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NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 10, 2021
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:
RCV002485310.3

Allele description [Variation Report for NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)]

NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys)

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.1123C>T (p.Arg375Cys)
HGVS:
  • NC_000004.12:g.6300918C>T
  • NG_011700.1:g.36069C>T
  • NM_001145853.1:c.1123C>T
  • NM_006005.3:c.1123C>TMANE SELECT
  • NP_001139325.1:p.Arg375Cys
  • NP_005996.2:p.Arg375Cys
  • LRG_1417t1:c.1123C>T
  • LRG_1417:g.36069C>T
  • LRG_1417p1:p.Arg375Cys
  • NC_000004.11:g.6302645C>T
Protein change:
R375C
Links:
dbSNP: rs200095753
NCBI 1000 Genomes Browser:
rs200095753
Molecular consequence:
  • NM_001145853.1:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1123C>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)
Identifiers:
MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300
Name:
Autosomal dominant nonsyndromic hearing loss 6 (LFSNHL)
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
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
Name:
Wolfram-like syndrome
Synonyms:
HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; Wolfram-like syndrome, autosomal dominant
Identifiers:
MONDO: MONDO:0013673; MedGen: C3280358; Orphanet: 411590; OMIM: 614296

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002776632Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 10, 2021) 		unknownclinical testing

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

Help

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, SCV002776632.1

#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: Sep 29, 2024