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NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) AND Hearing impairment

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 12, 2021
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:
RCV001375054.7

Allele description [Variation Report for NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)]

NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)

Gene:
WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.1
Genomic location:
Preferred name:
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
HGVS:
  • NC_000004.12:g.6301166G>T
  • NG_011700.1:g.36317G>T
  • NM_001145853.1:c.1371G>T
  • NM_006005.3:c.1371G>TMANE SELECT
  • NP_001139325.1:p.Arg457Ser
  • NP_005996.2:p.Arg457Ser
  • LRG_1417t1:c.1371G>T
  • LRG_1417:g.36317G>T
  • LRG_1417p1:p.Arg457Ser
  • NC_000004.11:g.6302893G>T
  • O76024:p.Arg457Ser
Protein change:
R457S
Links:
UniProtKB: O76024#VAR_029502; dbSNP: rs113446173
NCBI 1000 Genomes Browser:
rs113446173
Molecular consequence:
  • NM_001145853.1:c.1371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1371G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571768Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		Likely pathogenic
(Apr 12, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, Delobel B, Paquis-Flucklinger V; French Group of WS..

Hum Mutat. 2005 Jan;25(1):99-100.

PubMed [citation]
PMID:
15605410

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center, SCV001571768.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

PS1_Strong, PM2_Moderate, PM5_Moderate, PP3_Supporting

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

Last Updated: Nov 10, 2024