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NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 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:
RCV000152666.7

Allele description [Variation Report for NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)]

NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)

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.716A>G (p.Lys239Arg)
HGVS:
  • NC_000004.12:g.6295044A>G
  • NG_011700.1:g.30195A>G
  • NM_001145853.1:c.716A>G
  • NM_006005.3:c.716A>GMANE SELECT
  • NP_001139325.1:p.Lys239Arg
  • NP_005996.2:p.Lys239Arg
  • LRG_1417t1:c.716A>G
  • LRG_1417:g.30195A>G
  • LRG_1417p1:p.Lys239Arg
  • NC_000004.11:g.6296771A>G
Protein change:
K239R
Links:
dbSNP: rs727503747
NCBI 1000 Genomes Browser:
rs727503747
Molecular consequence:
  • NM_001145853.1:c.716A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.716A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000202025Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 29, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not 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, SCV000202025.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The p.Lys239Arg variant in WFS1 has not been previously reported in any other fa milies with hearing loss or in any individuals with WFS1-related disorders. This variant has also been identified in 3/33580 Latino chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs727503747) ; however its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Lys239Arg variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4 (Ri chards 2015).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: May 16, 2025