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NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 14, 2020
Accession:
VCV000137920.10
Variation ID:
137920
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.2205C>T (p.Tyr735=)

Allele ID
141623
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6302000 (GRCh38) GRCh38 UCSC
4: 6303727 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1417:g.37151C>T
LRG_1417t1:c.2205C>T LRG_1417p1:p.Tyr735=
NC_000004.11:g.6303727C>T
... more HGVS
Protein change
-
Other names
p.Y735Y:TAC>TAT
Canonical SPDI
NC_000004.12:6301999:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00439 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00262
1000 Genomes Project 0.00439
The Genome Aggregation Database (gnomAD) 0.00274
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00316
Exome Aggregation Consortium (ExAC) 0.00115
The Genome Aggregation Database (gnomAD) 0.00245
Links
ClinGen: CA295795
dbSNP: rs71530911
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Feb 9, 2015 RCV000155349.4
Benign 4 criteria provided, multiple submitters, no conflicts Nov 14, 2020 RCV000756926.8
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001153483.1
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001153482.1
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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
842 917

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 28, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169832.12
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Feb 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232699.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205035.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Tyr735Tyr in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311323.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Feb 02, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884913.1
Submitted: (Oct 10, 2018)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
WFS1-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001314775.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nonsyndromic deafness 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001314776.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 14, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001013405.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923941.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001965444.1
Submitted: (Sep 21, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=WFS1 - - - -

Text-mined citations for rs71530911...

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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 Nov 27, 2021