NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) AND not specified

Clinical significance:Likely benign (Last evaluated: Dec 30, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000200753.2

Allele description [Variation Report for NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)]

NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)

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.2119G>A (p.Val707Ile)
HGVS:
  • NC_000004.12:g.6301914G>A
  • NG_011700.1:g.37065G>A
  • NM_001145853.1:c.2119G>A
  • NM_006005.3:c.2119G>AMANE SELECT
  • NP_001139325.1:p.Val707Ile
  • NP_005996.2:p.Val707Ile
  • LRG_1417t1:c.2119G>A
  • LRG_1417:g.37065G>A
  • LRG_1417p1:p.Val707Ile
  • NC_000004.11:g.6303641G>A
  • p.V707I
Protein change:
V707I
Links:
dbSNP: rs71524377
NCBI 1000 Genomes Browser:
rs71524377
Molecular consequence:
  • NM_001145853.1:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000252496GeneDxcriteria provided, single submitter
Likely benign
(Dec 30, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000252496.11

#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: Apr 12, 2021

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