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<DocumentSummary uid="9">
	<obj_type>single nucleotide variant</obj_type>
	<accession>VCV000000009</accession>
	<accession_version>VCV000000009.</accession_version>
	<title>NM_000410.4(HFE):c.845G&gt;A (p.Cys282Tyr)</title>
	<variation_set>
		<variation>
			<measure_id>15048</measure_id>
			<variation_xrefs>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000019607</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000021464</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000021488</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000159973</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000219921</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000264968</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000271417</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000321635</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000323017</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000500300</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000500796</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000556562</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000558915</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000560787</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000568258</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000576400</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000607867</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>UniProtKB</db_source>
					<db_id>Q30201#VAR_004398</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>OMIM</db_source>
					<db_id>613609.0001</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>dbSNP</db_source>
					<db_id>1800562</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>ClinGen</db_source>
					<db_id>CA113795</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000007768</db_id>
				</variation_xref>
			</variation_xrefs>
			<variation_name>NM_000410.4(HFE):c.845G&gt;A (p.Cys282Tyr)</variation_name>
			<cdna_change>c.845G&gt;A</cdna_change>
			<aliases>
			</aliases>
			<variation_loc>
				<assembly_set>
					<status>current</status>
					<assembly_name>GRCh38</assembly_name>
					<chr>6</chr>
					<band>6p22.2</band>
					<start>26092913</start>
					<stop>26092913</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>26092913</display_start>
					<display_stop>26092913</display_stop>
					<assembly_acc_ver>GCF_000001405.38</assembly_acc_ver>
					<annotation_release></annotation_release>
					<alt></alt>
					<ref></ref>
				</assembly_set>
				<assembly_set>
					<status>previous</status>
					<assembly_name>GRCh37</assembly_name>
					<chr>6</chr>
					<band>6p22.2</band>
					<start>26093141</start>
					<stop>26093141</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>26093141</display_start>
					<display_stop>26093141</display_stop>
					<assembly_acc_ver>GCF_000001405.25</assembly_acc_ver>
					<annotation_release></annotation_release>
					<alt></alt>
					<ref></ref>
				</assembly_set>
			</variation_loc>
			<allele_freq_set>
				<allele_freq>
					<source>Exome Aggregation Consortium (ExAC)</source>
					<value>0.03243</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>The Genome Aggregation Database (gnomAD), exomes</source>
					<value>0.03321</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>Trans-Omics for Precision Medicine (TOPMed)</source>
					<value>0.03481</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>The Genome Aggregation Database (gnomAD)</source>
					<value>0.03880</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>1000 Genomes Project</source>
					<value>0.01258</value>
					<minor_allele>A</minor_allele>
				</allele_freq>
			</allele_freq_set>
			<variant_type>single nucleotide variant</variant_type>
			<canonical_spdi>NC_000006.12:26092912:G:A</canonical_spdi>
		</variation>
	</variation_set>
	<supporting_submissions>
		<scv>
			<string>SCV000493004</string>
			<string>SCV000151394</string>
			<string>SCV000221190</string>
			<string>SCV001194044</string>
			<string>SCV001905583</string>
			<string>SCV002028313</string>
			<string>SCV002576300</string>
			<string>SCV002580992</string>
			<string>SCV000461887</string>
			<string>SCV000607202</string>
			<string>SCV003799234</string>
			<string>SCV003920032</string>
			<string>SCV003931195</string>
			<string>SCV004022244</string>
			<string>SCV004024088</string>
			<string>SCV000245793</string>
			<string>SCV004177020</string>
			<string>SCV000219175</string>
			<string>SCV004120883</string>
			<string>SCV004803175</string>
			<string>SCV002525758</string>
			<string>SCV001523198</string>
			<string>SCV005086593</string>
			<string>SCV000020162</string>
			<string>SCV001246053</string>
			<string>SCV005198438</string>
			<string>SCV000329362</string>
			<string>SCV000206975</string>
			<string>SCV000267038</string>
			<string>SCV000223934</string>
			<string>SCV000839959</string>
			<string>SCV000230091</string>
			<string>SCV001137062</string>
			<string>SCV000883106</string>
			<string>SCV001251531</string>
			<string>SCV001448752</string>
			<string>SCV001519562</string>
			<string>SCV001549492</string>
			<string>SCV001749341</string>
			<string>SCV001984982</string>
			<string>SCV002011713</string>
			<string>SCV002061285</string>
			<string>SCV002502491</string>
			<string>SCV002044430</string>
			<string>SCV002568182</string>
			<string>SCV003925227</string>
			<string>SCV004812520</string>
			<string>SCV003702847</string>
			<string>SCV002550674</string>
		</scv>
		<rcv>
			<string>RCV000000019</string>
			<string>RCV000178096</string>
			<string>RCV000210820</string>
			<string>RCV000308358</string>
			<string>RCV000414811</string>
			<string>RCV001270034</string>
			<string>RCV001248830</string>
			<string>RCV001731264</string>
			<string>RCV002280089</string>
			<string>RCV002512585</string>
			<string>RCV003224084</string>
			<string>RCV003493406</string>
		</rcv>
	</supporting_submissions>
	<germline_classification>
		<description>Pathogenic/Pathogenic, low penetrance; other; risk factor</description>
		<last_evaluated>2024/07/31 00:00</last_evaluated>
		<review_status>criteria provided, multiple submitters, no conflicts</review_status>
		<fda_recognized_database></fda_recognized_database>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0392514</db_id>
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						<db_id>MONDO:0006507</db_id>
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						<db_source>OMIM</db_source>
						<db_id>PS235200</db_id>
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				<trait_name>Hereditary hemochromatosis</trait_name>
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					<trait_xref>
						<db_source>Orphanet</db_source>
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						<db_id>MONDO:0019257</db_id>
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				<trait_name>Juvenile hemochromatosis</trait_name>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C4023819</db_id>
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						<db_id>HP:0010461</db_id>
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				<trait_name>Abnormality of the male genitalia</trait_name>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0004941</db_id>
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						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0000715</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0002368</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0002456</db_id>
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				<trait_name>Atypical behavior</trait_name>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0030193</db_id>
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						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0012531</db_id>
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				<trait_name>Pain</trait_name>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C4025831</db_id>
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						<db_source>MONDO</db_source>
						<db_id>MONDO:0003620</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0000759</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0003483</db_id>
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				<trait_name>Abnormal peripheral nervous system morphology</trait_name>
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			<trait>
				<trait_xrefs>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0000737</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0002027</db_id>
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				<trait_name>Abdominal pain</trait_name>
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			<trait>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0497552</db_id>
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					<trait_xref>
						<db_source>MONDO</db_source>
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						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0000707</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0006987</db_id>
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					<trait_xref>
						<db_source>MedGen</db_source>
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						<db_source>MONDO</db_source>
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						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0009830</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0007235</db_id>
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					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0007355</db_id>
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				<trait_name>Peripheral neuropathy</trait_name>
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			<trait>
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					<trait_xref>
						<db_source>Orphanet</db_source>
						<db_id>139498</db_id>
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					<trait_xref>
						<db_source>Orphanet</db_source>
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						<db_source>MedGen</db_source>
						<db_id>C3469186</db_id>
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						<db_source>MONDO</db_source>
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						<db_source>OMIM</db_source>
						<db_id>235200</db_id>
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					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C2673520</db_id>
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						<db_id>612635</db_id>
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				<trait_name>Microvascular complications of diabetes, susceptibility to, 7</trait_name>
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					<trait_xref>
						<db_source>Orphanet</db_source>
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					<trait_xref>
						<db_source>Orphanet</db_source>
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					<trait_xref>
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				<trait_xrefs>
					<trait_xref>
						<db_source>Orphanet</db_source>
						<db_id>167848</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0878544</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MONDO</db_source>
						<db_id>MONDO:0004994</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>Human Phenotype Ontology</db_source>
						<db_id>HP:0001638</db_id>
					</trait_xref>
				</trait_xrefs>
				<trait_name>Cardiomyopathy</trait_name>
			</trait>
			<trait>
				<trait_xrefs>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0950123</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MeSH</db_source>
						<db_id>D030342</db_id>
					</trait_xref>
				</trait_xrefs>
				<trait_name>Inborn genetic diseases</trait_name>
			</trait>
			<trait>
				<trait_xrefs>
				</trait_xrefs>
				<trait_name>HFE-related disorder</trait_name>
			</trait>
			<trait>
				<trait_xrefs>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C3661900</db_id>
					</trait_xref>
				</trait_xrefs>
				<trait_name>not provided</trait_name>
			</trait>
			<trait>
				<trait_xrefs>
					<trait_xref>
						<db_source>Orphanet</db_source>
						<db_id>140162</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0027672</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MeSH</db_source>
						<db_id>D009386</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MONDO</db_source>
						<db_id>MONDO:0015356</db_id>
					</trait_xref>
				</trait_xrefs>
				<trait_name>Hereditary cancer-predisposing syndrome</trait_name>
			</trait>
		</trait_set>
	</germline_classification>
	<clinical_impact_classification>
		<description></description>
		<last_evaluated>1/01/01 00:00</last_evaluated>
		<review_status></review_status>
		<fda_recognized_database></fda_recognized_database>
		<trait_set>
		</trait_set>
	</clinical_impact_classification>
	<oncogenicity_classification>
		<description></description>
		<last_evaluated>1/01/01 00:00</last_evaluated>
		<review_status></review_status>
		<fda_recognized_database></fda_recognized_database>
		<trait_set>
		</trait_set>
	</oncogenicity_classification>
	<record_status></record_status>
	<gene_sort>HFE</gene_sort>
	<chr_sort>06</chr_sort>
	<location_sort>00000000000026092913</location_sort>
	<variation_set_name></variation_set_name>
	<variation_set_id></variation_set_id>
	<genes>
		<gene>
			<symbol>HFE</symbol>
			<GeneID>3077</GeneID>
			<strand>+</strand>
			<source>submitted</source>
		</gene>
	</genes>
	<molecular_consequence_list>
		<string>missense variant</string>
		<string>intron variant</string>
	</molecular_consequence_list>
	<protein_change>C282Y, C176Y, C180Y, C190Y, C194Y, C259Y, C268Y, C102Y, C279Y</protein_change>
	<fda_recognized_database></fda_recognized_database>
</DocumentSummary>

</DocumentSummarySet>
</eSummaryResult>
