NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs) AND Wolfram syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 15, 2008
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:: RCV000023511.6

Allele description [Variation Report for NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs)]

NM_006005.3(WFS1):c.1936_1943del (p.Phe646fs)

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.1936_1943del (p.Phe646fs)

HGVS:

NC_000004.12:g.6301731_6301738del
NG_011700.1:g.36882_36889del
NM_001145853.1:c.1936_1943del
NM_006005.3:c.1936_1943delMANE SELECT
NP_001139325.1:p.Phe646fs
NP_005996.2:p.Phe646fs
LRG_1417t1:c.1936_1943del
LRG_1417:g.36882_36889del
LRG_1417p1:p.Phe646fs
NC_000004.11:g.6303458_6303465del

Protein change:

F646fs

Links:

OMIM: 606201.0025; dbSNP: rs71524374

NCBI 1000 Genomes Browser:

rs71524374

Molecular consequence:

NM_001145853.1:c.1936_1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006005.3:c.1936_1943del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000044802	OMIM	no assertion criteria provided	Pathogenic (Dec 15, 2008)	germline	literature only	Zalloua, P. A., Azar, S. T., Delepine, M., Makhoul, N. J., Blanc, H., Sanyoura, M., Lavergne, A., Stankov, K., Lemainque, A., Baz, P., Julier, C. WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. Hum. Molec. Genet. 17: 4012-4021, 2008.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044802

OMIM

no assertion criteria provided

Pathogenic
(Dec 15, 2008)

germline

literature only

Zalloua, P. A., Azar, S. T., Delepine, M., Makhoul, N. J., Blanc, H., Sanyoura, M., Lavergne, A., Stankov, K., Lemainque, A., Baz, P., Julier, C. WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. Hum. Molec. Genet. 17: 4012-4021, 2008.

Help

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, SCV000044802.4

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

Description

For discussion of the 8-bp deletion in the WFS1 gene that was found in patients with Wolfram syndrome (WFS1; 222300) or nonsyndromic nonautoimmune diabetes mellitus by Zalloua et al. (2008), see 606201.0024.

#	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: Mar 16, 2024

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