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NM_006005.3(WFS1):c.1243_1245del (p.Val415del) AND Wolfram syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2011
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:
RCV001843422.5

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044807OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2011) 		germlineliterature only

Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Moller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M., Tranebjaerg, L. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am. J. Med. Genet. 155A: 1298-1313, 2011.

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000044807.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

For discussion of the 3-bp deletion in the WFS1 gene (1243delGTC) that was found in compound heterozygous state in sibs with Wolfram syndrome (WFS1; 222300) by Rendtorff et al. (2011), see 606201.0028.

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

Last Updated: Nov 3, 2024