NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) AND Cataract 41

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2013
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:: RCV000077875.11

Allele description [Variation Report for NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)]

NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)

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.1385A>G (p.Glu462Gly)

HGVS:

NC_000004.12:g.6301180A>G
NG_011700.1:g.36331A>G
NM_001145853.1:c.1385A>G
NM_006005.3:c.1385A>GMANE SELECT
NP_001139325.1:p.Glu462Gly
NP_005996.2:p.Glu462Gly
LRG_1417t1:c.1385A>G
LRG_1417:g.36331A>G
LRG_1417p1:p.Glu462Gly
NC_000004.11:g.6302907A>G
O76024:p.Glu462Gly

Protein change:

E462G; GLU462GLY

Links:

UniProtKB: O76024#VAR_070935; OMIM: 606201.0032; dbSNP: rs398123066

NCBI 1000 Genomes Browser:

rs398123066

Molecular consequence:

NM_001145853.1:c.1385A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.1385A>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109704	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2013)	germline	literature only	Berry, V., Gregory-Evans, C., Emmett, W., Waseem, N., Raby, J., Prescott, D., Moore, A. T., Bhattacharya, S. S. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Europ. J. Hum. Genet. 21: 1356-1360, 2013.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109704

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2013)

germline

literature only

Berry, V., Gregory-Evans, C., Emmett, W., Waseem, N., Raby, J., Prescott, D., Moore, A. T., Bhattacharya, S. S. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Europ. J. Hum. Genet. 21: 1356-1360, 2013.

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000109704.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In affected members of a 4-generation family of Irish descent with congenital nuclear cataract (CTRCT41; 116400), Berry et al. (2013) identified heterozygosity for a c.1385A-G transition in exon 8 of the WFS1 gene, resulting in a glu462-to-gly (E462G) substitution at a highly conserved residue in the cytoplasmic loop linking transmembrane domains 4 and 5. The mutation was not found in unaffected family members or in 100 white European controls.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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