NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) AND Wolfram syndrome 1

Germline classification:: Uncertain risk allele (1 submission)
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:: RCV003127655.3

Allele description [Variation Report for NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)]

NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)

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.1739T>A (p.Val580Glu)

HGVS:

NC_000004.12:g.6301534T>A
NG_011700.1:g.36685T>A
NM_001145853.1:c.1739T>A
NM_006005.3:c.1739T>AMANE SELECT
NP_001139325.1:p.Val580Glu
NP_005996.2:p.Val580Glu
LRG_1417t1:c.1739T>A
LRG_1417:g.36685T>A
LRG_1417p1:p.Val580Glu
NC_000004.11:g.6303261T>A
NC_000004.11:g.6303261T>A

Protein change:

V580E

Links:

dbSNP: rs140773453

NCBI 1000 Genomes Browser:

rs140773453

Molecular consequence:

NM_001145853.1:c.1739T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.1739T>A - 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
SCV003801409	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Uncertain risk allele	unknown	research	PubMed (6) [See all records that cite these PMIDs] 20738327, 17603484, 20301750, 18060660, 12955714, 33879153 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003801409

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Uncertain risk allele

unknown

research

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Wolfram syndrome and WFS1 gene.

Rigoli L, Lombardo F, Di Bella C.

Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004.2010.01522.x. Epub 2010 Aug 26. Review.

PubMed [citation]

PMID:: 20738327

Common variants in WFS1 confer risk of type 2 diabetes.

Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, et al.

Nat Genet. 2007 Aug;39(8):951-3. Epub 2007 Jul 1.

PubMed [citation]

PMID:: 17603484
PMCID:: PMC2672152

See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV003801409.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (6)

Description

Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy.However no sufficient evidence is found to ascertain the role of this particular variant rs140773453 in Wolfram's syndrome yet.

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

Last Updated: Sep 29, 2024

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