NM_006005.3(WFS1):c.1243_1245del (p.Val415del) AND WFS1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2024
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:
RCV004541271.2

Allele description [Variation Report for NM_006005.3(WFS1):c.1243_1245del (p.Val415del)]

NM_006005.3(WFS1):c.1243_1245del (p.Val415del)

Gene:
WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p16.1
Genomic location:
Preferred name:
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)
Other names:
WFS1, 3-BP DEL, VAL415DEL
HGVS:
  • NC_000004.11:g.6302763_6302765del
  • NC_000004.12:g.6301038_6301040del
  • NG_011700.1:g.36189_36191del
  • NM_001145853.1:c.1243_1245del
  • NM_006005.3:c.1243_1245delMANE SELECT
  • NP_001139325.1:p.Val415del
  • NP_005996.2:p.Val415del
  • LRG_1417t1:c.1243_1245del
  • LRG_1417:g.36189_36191del
  • LRG_1417p1:p.Val415del
  • NC_000004.11:g.6302763_6302765del
  • NC_000004.11:g.6302765_6302767del
  • NC_000004.11:g.6302765_6302767delGTC
  • NM_006005.3:c.1243_1245del
  • NM_006005.3:c.1243_1245delGTCMANE SELECT
  • p.V415del
Protein change:
V415del; VAL415DEL
Links:
OMIM: 606201.0029; dbSNP: rs863224265
NCBI 1000 Genomes Browser:
rs863224265
Molecular consequence:
  • NM_001145853.1:c.1243_1245del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_006005.3:c.1243_1245del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
WFS1-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004798201PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Feb 23, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004798201.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The WFS1 c.1243_1245delGTC variant is predicted to result in an in-frame deletion (p.Val415del). This sequence variant has been documented to be causative for Wolfram syndrome (Hardy et al. 1999. PubMed ID: 10521293; Smith et al. 2004. PubMed ID: 15277431; Hansen et al. 2005. PubMed ID: 16151413; Gasparin et al. 2009. PubMed ID: 19042979; Marshall et al. 2013. PubMed ID: 23981289). This variant is reported in 0.026% of alleles in individuals of Latino descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024