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NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2022
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:
RCV004021170.1

Allele description [Variation Report for NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)]

NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)

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.2122C>T (p.Arg708Cys)
HGVS:
  • NC_000004.12:g.6301917C>T
  • NG_011700.1:g.37068C>T
  • NM_001145853.1:c.2122C>T
  • NM_006005.3:c.2122C>TMANE SELECT
  • NP_001139325.1:p.Arg708Cys
  • NP_005996.2:p.Arg708Cys
  • LRG_1417t1:c.2122C>T
  • LRG_1417:g.37068C>T
  • LRG_1417p1:p.Arg708Cys
  • NC_000004.11:g.6303644C>T
  • O76024:p.Arg708Cys
Protein change:
R708C
Links:
UniProtKB: O76024#VAR_011311; dbSNP: rs200099217
NCBI 1000 Genomes Browser:
rs200099217
Molecular consequence:
  • NM_001145853.1:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2122C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004979918Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jun 28, 2022)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De Luca F, Lorini R, Santorelli FM.

Hum Mutat. 2001 Apr;17(4):348-9.

PubMed [citation]
PMID:
11295831

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, et al.

Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1.

PubMed [citation]
PMID:
28432734
PMCID:
PMC5535005

Details of each submission

From Ambry Genetics, SCV004979918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Unlikely to be causative of autosomal dominant WFS1-related Wolfram syndrome and autosomal dominant WFS1-related low frequency sensorineural hearing loss Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024