NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) AND Wolfram syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 1998
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:: RCV000004767.5

Allele description [Variation Report for NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)]

NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)

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.2171C>T (p.Pro724Leu)

HGVS:

NC_000004.12:g.6301966C>T
NG_011700.1:g.37117C>T
NM_001145853.1:c.2171C>T
NM_006005.3:c.2171C>TMANE SELECT
NP_001139325.1:p.Pro724Leu
NP_005996.2:p.Pro724Leu
LRG_1417t1:c.2171C>T
LRG_1417:g.37117C>T
LRG_1417p1:p.Pro724Leu
NC_000004.11:g.6303693C>T
O76024:p.Pro724Leu

Protein change:

P724L; PRO724LEU

Links:

UniProtKB: O76024#VAR_005845; OMIM: 606201.0003; dbSNP: rs28937890

NCBI 1000 Genomes Browser:

rs28937890

Molecular consequence:

NM_001145853.1:c.2171C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.2171C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Wolfram syndrome 1 (WFS1)
Identifiers:: MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024943	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1998)	germline	literature only	Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal-Mizrachi, E., Meuckler, M., Marshall, H., Donis-Keller, H., Crock, P., Rogers, D., Mikuni, M., Kumashiro, H., Higashi, K., Sobue, G., Oka, Y., Permutt, M. A. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nature Genet. 20: 143-148, 1998.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024943

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1998)

germline

literature only

Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal-Mizrachi, E., Meuckler, M., Marshall, H., Donis-Keller, H., Crock, P., Rogers, D., Mikuni, M., Kumashiro, H., Higashi, K., Sobue, G., Oka, Y., Permutt, M. A. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nature Genet. 20: 143-148, 1998.

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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, SCV000024943.3

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

Description

In a Japanese family segregating Wolfram syndrome (WFS1; 222300), Inoue et al. (1998) demonstrated that affected members were homozygous for a 2341C-T transition resulting in a pro724-to-leu (P724L) amino acid substitution.

#	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: Sep 29, 2024

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