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NM_006005.3(WFS1):c.1109C>T (p.Ala370Val) AND Developmental cataract

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001775024.2

Allele description [Variation Report for NM_006005.3(WFS1):c.1109C>T (p.Ala370Val)]

NM_006005.3(WFS1):c.1109C>T (p.Ala370Val)

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.1109C>T (p.Ala370Val)
HGVS:
  • NC_000004.12:g.6300904C>T
  • NG_011700.1:g.36055C>T
  • NM_001145853.1:c.1109C>T
  • NM_006005.3:c.1109C>TMANE SELECT
  • NP_001139325.1:p.Ala370Val
  • NP_005996.2:p.Ala370Val
  • LRG_1417t1:c.1109C>T
  • LRG_1417:g.36055C>T
  • LRG_1417p1:p.Ala370Val
  • NC_000004.11:g.6302631C>T
Protein change:
A370V
Links:
dbSNP: rs1377309089
NCBI 1000 Genomes Browser:
rs1377309089
Molecular consequence:
  • NM_001145853.1:c.1109C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1109C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental cataract
Synonyms:
Congenital cataract; Congenital cataracts
Identifiers:
MedGen: C0009691; Human Phenotype Ontology: HP:0000519

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001573185Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania
no assertion criteria provided

(ACMG Guidelines, 2015)		Uncertain significance
(May 1, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania, SCV001573185.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024