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NM_006005.3(WFS1):c.1124G>A (p.Arg375His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 14, 2017
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:
RCV000615343.7

Allele description [Variation Report for NM_006005.3(WFS1):c.1124G>A (p.Arg375His)]

NM_006005.3(WFS1):c.1124G>A (p.Arg375His)

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.1124G>A (p.Arg375His)
HGVS:
  • NC_000004.12:g.6300919G>A
  • NG_011700.1:g.36070G>A
  • NM_001145853.1:c.1124G>A
  • NM_006005.3:c.1124G>AMANE SELECT
  • NP_001139325.1:p.Arg375His
  • NP_005996.2:p.Arg375His
  • LRG_1417t1:c.1124G>A
  • LRG_1417:g.36070G>A
  • LRG_1417p1:p.Arg375His
  • NC_000004.11:g.6302646G>A
Protein change:
R375H
Links:
dbSNP: rs142671083
NCBI 1000 Genomes Browser:
rs142671083
Molecular consequence:
  • NM_001145853.1:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711249Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 14, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided32not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711249.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The p.Arg375His variant in WFS1 has been previously reported by our laboratory i n one individual with hearing loss. This variant has also been identified in 60/ 126648 European chromosomes by the Genome Aggregation Database (gnomAD, http://g nomad.broadinstitute.org; dbSNP rs142671083); however, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conser vation analyses do not provide strong support for or against an impact to the pr otein. In summary, the clinical significance of the p.Arg375His variant is uncer tain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided2not provided

Last Updated: Nov 3, 2024