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NM_000410.4(HFE):c.157G>A (p.Val53Met) AND HFE POLYMORPHISM

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 1, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000000032.5

Allele description [Variation Report for NM_000410.4(HFE):c.157G>A (p.Val53Met)]

NM_000410.4(HFE):c.157G>A (p.Val53Met)

Genes:
HFE-AS1:HFE antisense RNA 1 [Gene - HGNC]
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.157G>A (p.Val53Met)
HGVS:
  • NC_000006.12:g.26090921G>A
  • NG_008720.2:g.8641G>A
  • NM_000410.4:c.157G>AMANE SELECT
  • NM_001300749.3:c.157G>A
  • NM_001384164.1:c.157G>A
  • NM_001406751.1:c.157G>A
  • NM_139003.3:c.157G>A
  • NM_139004.3:c.157G>A
  • NM_139006.3:c.157G>A
  • NM_139007.3:c.77-393G>A
  • NM_139008.3:c.77-393G>A
  • NM_139009.3:c.88G>A
  • NM_139010.3:c.77-1764G>A
  • NM_139011.3:c.77-2198G>A
  • NP_000401.1:p.Val53Met
  • NP_000401.1:p.Val53Met
  • NP_001287678.1:p.Val53Met
  • NP_001287678.1:p.Val53Met
  • NP_001371093.1:p.Val53Met
  • NP_001393680.1:p.Val53Met
  • NP_620572.1:p.Val53Met
  • NP_620573.1:p.Val53Met
  • NP_620575.1:p.Val53Met
  • NP_620578.1:p.Val30Met
  • LRG_748t1:c.157G>A
  • LRG_748:g.8641G>A
  • LRG_748p1:p.Val53Met
  • NC_000006.11:g.26091149G>A
  • NM_000410.3:c.157G>A
  • NM_001300749.2:c.157G>A
  • NR_144383.1:n.114C>T
  • Q30201:p.Val53Met
Protein change:
V30M; VAL53MET
Links:
UniProtKB: Q30201#VAR_008111; OMIM: 613609.0005; dbSNP: rs28934889
NCBI 1000 Genomes Browser:
rs28934889
Molecular consequence:
  • NM_139007.3:c.77-393G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_139008.3:c.77-393G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_139010.3:c.77-1764G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_139011.3:c.77-2198G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000410.4:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001300749.3:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384164.1:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406751.1:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139003.3:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139004.3:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139006.3:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_139009.3:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_144383.1:n.114C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
HFE POLYMORPHISM
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020175OMIM
no assertion criteria provided
Benign
(Aug 1, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

de Villiers JN, Hillermann R, Loubser L, Kotze MJ.

Hum Mol Genet. 1999 Aug;8(8):1517-22. Erratum in: Hum Mol Genet 1999 Sep;8(9):1817.

PubMed [citation]
PMID:
10401000

Details of each submission

From OMIM, SCV000020175.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mutation analysis of the HFE gene using DNA samples from members of 4 different ethnic groups in South Africa, de Villiers et al. (1999) identified a 157G-A transition in exon 2 of the HFE gene, resulting in a val53-to-met (V53M) substitution. The mutation was detected only in South African Black and Bushman (Khoisan) populations. The mutation created a new NlaIII site and abolished an MaeII site.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024