NM_000410.4(HFE):c.766G>A (p.Val256Ile) AND Hemochromatosis type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 8, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003126811.8

Allele description [Variation Report for NM_000410.4(HFE):c.766G>A (p.Val256Ile)]

NM_000410.4(HFE):c.766G>A (p.Val256Ile)

Gene:

HFE:homeostatic iron regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

Preferred name:

NM_000410.4(HFE):c.766G>A (p.Val256Ile)

HGVS:

NC_000006.12:g.26092834G>A
NG_008720.2:g.10554G>A
NM_000410.4:c.766G>AMANE SELECT
NM_001300749.3:c.766G>A
NM_001384164.1:c.766G>A
NM_001406751.1:c.757G>A
NM_001406752.1:c.502G>A
NM_139003.3:c.448G>A
NM_139004.3:c.490G>A
NM_139006.3:c.724G>A
NM_139007.3:c.502G>A
NM_139008.3:c.460G>A
NM_139009.3:c.697G>A
NM_139010.3:c.226G>A
NM_139011.3:c.77-285G>A
NP_000401.1:p.Val256Ile
NP_000401.1:p.Val256Ile
NP_001287678.1:p.Val256Ile
NP_001287678.1:p.Val256Ile
NP_001371093.1:p.Val256Ile
NP_001393680.1:p.Val253Ile
NP_001393681.1:p.Val168Ile
NP_620572.1:p.Val150Ile
NP_620573.1:p.Val164Ile
NP_620575.1:p.Val242Ile
NP_620576.1:p.Val168Ile
NP_620577.1:p.Val154Ile
NP_620578.1:p.Val233Ile
NP_620579.1:p.Val76Ile
LRG_748t1:c.766G>A
LRG_748:g.10554G>A
LRG_748p1:p.Val256Ile
NC_000006.11:g.26093062G>A
NM_000410.3:c.766G>A
NM_001300749.2:c.766G>A

Protein change:

V150I

Links:

dbSNP: rs202068193

NCBI 1000 Genomes Browser:

rs202068193

Molecular consequence:

NM_139011.3:c.77-285G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000410.4:c.766G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001300749.3:c.766G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384164.1:c.766G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406751.1:c.757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406752.1:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139003.3:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139004.3:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139006.3:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139007.3:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139008.3:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139009.3:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_139010.3:c.226G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemochromatosis type 1 (HFE1)
Synonyms:: HFE-Associated Hereditary Hemochromatosis
Identifiers:: MONDO: MONDO:0021001; MedGen: C3469186; OMIM: 235200

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Polr2h polymerase (RNA) II (DNA directed) polypeptide H [Mus musculus]
Polr2h polymerase (RNA) II (DNA directed) polypeptide H [Mus musculus]
Gene ID:245841

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003801938	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 8, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003801938

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 8, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV003801938.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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