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NM_006005.3(WFS1):c.1134C>G (p.Thr378=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 20, 2021)
Last evaluated:
Apr 27, 2017
Accession:
VCV000259895.3
Variation ID:
259895
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.1134C>G (p.Thr378=)

Allele ID
251553
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6300929 (GRCh38) GRCh38 UCSC
4: 6302656 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6302656C>G
NC_000004.12:g.6300929C>G
NM_006005.3:c.1134C>G MANE Select NP_005996.2:p.Thr378= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:6300928:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.01238 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA2839230
dbSNP: rs71530904
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter - RCV000247636.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001151789.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001151790.1
Likely benign 1 no assertion criteria provided Dec 14, 2020 RCV001577332.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311305.1
Submitted: (Apr 28, 2016)
Evidence details
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nonsyndromic deafness 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312959.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
WFS1-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001312960.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Dec 14, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001804687.1
Submitted: (Aug 20, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs71530904...

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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 Aug 24, 2021