NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 6, 2013
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:: RCV000197607.1

Allele description

NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs)

Gene:

WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4p16.1

Genomic location:

Preferred name:

NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs)

HGVS:

NC_000004.12:g.6300706_6300709dupTTGA
NG_011700.1:g.35857_35860dup
NM_006005.3:c.911_914dupTTGA
NP_005996.2:p.Met306Terfs
NC_000004.11:g.6302433_6302436dupTTGA
NM_006005.2:c.911_914dup
NP_005996.1:p.Met306Terfs
p.M306*

Links:

dbSNP: rs863224264

NCBI 1000 Genomes Browser:

rs863224264

Molecular consequence:

NM_006005.3:c.911_914dupTTGA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252549	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 6, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000252549

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 6, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000252549.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.911_914dupTTGA mutation in the WFS1 gene causes a frameshift starting with codon Methionine 306, and changes this amino acid to a premature Stop codon at this position, denoted p.Met306Stop (M306X). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, we interpret c.911_914dupTTGA as a mutation. This variant has been observed to be paternally inherited. The variant is found in WFS1 panel(s).

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

Last Updated: Mar 31, 2019

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