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NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 9, 2021)
Last evaluated:
Jun 30, 2021
Accession:
VCV000209207.7
Variation ID:
209207
Description:
4bp deletion
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NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs)

Allele ID
205740
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
4p16.1
Genomic location
4: 6302441-6302444 (GRCh38) GRCh38 UCSC
4: 6304168-6304171 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6304170_6304173del
NC_000004.12:g.6302443_6302446del
NM_006005.3:c.2648_2651delTCTT MANE Select frameshift
... more HGVS
Protein change
F883fs
Other names
-
Canonical SPDI
NC_000004.12:6302440:TTTCTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA276185
OMIM: 606201.0012
dbSNP: rs797045076
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 1, 2020 RCV000200365.4
Pathogenic 2 criteria provided, single submitter May 4, 2015 RCV000191146.4
Pathogenic 1 criteria provided, single submitter Jun 30, 2021 RCV001536011.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WFS1 No evidence available No evidence available GRCh38
GRCh37
740 815

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 04, 2015)
criteria provided, single submitter
Method: clinical testing
Diabetes mellitus AND insipidus with optic atrophy AND deafness
(Autosomal recessive inheritance)
Allele origin: paternal, germline
Baylor Genetics
Study: Adult_WES
Accession: SCV000245555.1
Submitted: (Aug 17, 2015)
Evidence details
Publications
PubMed (1)
PMID:10521293
Comment:
This variant has been previously reported as disease-causing and was found once in our laboratory in trans with a missense variant [C755R] in a 38-year-old … (more)
Likely pathogenic
(Mar 02, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000252562.5
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The c.2648_2651delTCTT variant in the WFS1 gene has been reported previously in the homozygous state or in the presence of another WFS1 variant in multiple … (more)
Pathogenic
(Oct 30, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001409808.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the WFS1 gene (p.Phe883Serfs*68). While this is not anticipated to result in nonsense mediated … (more)
Pathogenic
(Jul 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500780.2
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Jun 30, 2021)
criteria provided, single submitter
Method: clinical testing
Cataract 41
Type 2 diabetes mellitus
Wolfram syndrome 1
Autosomal dominant nonsyndromic deafness 6
Wolfram-like syndrome, autosomal dominant
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV001752691.1
Submitted: (Jul 09, 2021)
Comment:
This variant has been detected in individual(s) who were sent for testing of Renasight - kidney gene panel.
Evidence details
Pathogenic
(Feb 01, 2001)
no assertion criteria provided
Method: literature only
WOLFRAM SYNDROME 1
Allele origin: germline
OMIM
Accession: SCV000024952.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia. Astuti D Human mutation 2017 PMID: 28432734
Molecular diagnostic experience of whole-exome sequencing in adult patients. Posey JE Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26633545
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Hansen L European journal of human genetics : EJHG 2005 PMID: 16151413
Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. Sam W Clinical genetics 2001 PMID: 11260218
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Hardy C American journal of human genetics 1999 PMID: 10521293
PMID:10521293 - - - -

Text-mined citations for rs797045076...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 20, 2021