NM_006005.3(WFS1):c.1491C>T (p.Val497=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Aug 10, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000152677.4

Allele description [Variation Report for NM_006005.3(WFS1):c.1491C>T (p.Val497=)]

NM_006005.3(WFS1):c.1491C>T (p.Val497=)

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.1491C>T (p.Val497=)
HGVS:
  • NC_000004.12:g.6301286C>T
  • NG_011700.1:g.36437C>T
  • NM_001145853.1:c.1491C>T
  • NM_006005.3:c.1491C>TMANE SELECT
  • NP_001139325.1:p.Val497=
  • NP_005996.2:p.Val497=
  • LRG_1417t1:c.1491C>T
  • LRG_1417:g.36437C>T
  • LRG_1417p1:p.Val497=
  • NC_000004.11:g.6303013C>T
  • p.V497V
  • p.Val497Val
Links:
dbSNP: rs148310584
NCBI 1000 Genomes Browser:
rs148310584
Molecular consequence:
  • NM_001145853.1:c.1491C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006005.3:c.1491C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202041Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 10, 2015)
germlineclinical testing

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

SCV000252484GeneDxcriteria provided, single submitter
Benign
(Sep 16, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided33not 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, SCV000202041.5

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

Description

p.Val497Val in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.4% (45/10368) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs148310584).

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

From GeneDx, SCV000252484.11

#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

Last Updated: Jul 7, 2021

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