NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: May 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000515318.1

Allele description [Variation Report for NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)]

NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)

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.1957C>T (p.Arg653Cys)
Other names:
p.R653C:CGC>TGC; NM_001145853.1(WFS1):c.1957C>T(p.Arg653Cys); NM_006005.3(WFS1):c.1957C>T(p.Arg653Cys)
HGVS:
  • NC_000004.12:g.6301752C>T
  • NG_011700.1:g.36903C>T
  • NM_001145853.1:c.1957C>T
  • NM_006005.3:c.1957C>TMANE SELECT
  • NP_001139325.1:p.Arg653Cys
  • NP_005996.2:p.Arg653Cys
  • LRG_1417t1:c.1957C>T
  • LRG_1417:g.36903C>T
  • LRG_1417p1:p.Arg653Cys
  • NC_000004.11:g.6303479C>T
  • O76024:p.Arg653Cys
Protein change:
R653C
Links:
UniProtKB: O76024#VAR_014037; dbSNP: rs201064551
NCBI 1000 Genomes Browser:
rs201064551
Molecular consequence:
  • NM_001145853.1:c.1957C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1957C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cataract 41 (CTRCT41)
Synonyms:
CATARACT 41, CONGENITAL NUCLEAR TYPE
Identifiers:
MONDO: MONDO:0007287; MedGen: C3805412; Orphanet: 91492; Orphanet: 98991; Orphanet: 98992; Orphanet: 98995; OMIM: 116400
Name:
Wolfram syndrome 1 (WFS1)
Synonyms:
DIDMOAD syndrome
Identifiers:
MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300
Name:
Autosomal dominant nonsyndromic deafness 6 (DFNA6)
Synonyms:
DEAFNESS, AUTOSOMAL DOMINANT 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010963; MedGen: C1833021; Orphanet: 90635; OMIM: 600965
Name:
Type 2 diabetes mellitus (T2D)
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO; NIDDM diabetes mellitus; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Name:
Wolfram-like syndrome, autosomal dominant (WFSL)
Synonyms:
HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; Wolfram-like syndrome
Identifiers:
MONDO: MONDO:0013673; MedGen: C3280358; Orphanet: 411590; OMIM: 614296

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000611534Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(May 23, 2017)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000611534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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