NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND not specified

Clinical significance:Benign (Last evaluated: May 26, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000038657.4

Allele description [Variation Report for NM_006005.3(WFS1):c.2335G>A (p.Val779Met)]

NM_006005.3(WFS1):c.2335G>A (p.Val779Met)

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.2335G>A (p.Val779Met)
HGVS:
  • NC_000004.12:g.6302130G>A
  • NG_011700.1:g.37281G>A
  • NM_001145853.1:c.2335G>A
  • NM_006005.3:c.2335G>AMANE SELECT
  • NP_001139325.1:p.Val779Met
  • NP_005996.2:p.Val779Met
  • LRG_1417t1:c.2335G>A
  • LRG_1417:g.37281G>A
  • LRG_1417p1:p.Val779Met
  • NC_000004.11:g.6303857G>A
  • O76024:p.Val779Met
  • c.2335G>A
  • p.V779M
Protein change:
V779M
Links:
UniProtKB: O76024#VAR_032966; dbSNP: rs141328044
NCBI 1000 Genomes Browser:
rs141328044
Molecular consequence:
  • NM_001145853.1:c.2335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2335G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
16

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062335Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 30, 2012)
germlineclinical testing

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

SCV000252500GeneDxcriteria provided, single submitter
Benign
(Jun 23, 2014)
germlineclinical testing

Citation Link,

SCV000341012EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(May 26, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided1616not providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot 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, Partners HealthCare Personalized Medicine, SCV000062335.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided16not providednot providedclinical testing PubMed (1)

Description

Val779Met in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 2.5% (92/3730) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs141328044).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided16not provided16not provided

From GeneDx, SCV000252500.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000341012.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

Support Center