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NM_006005.3(WFS1):c.1923G>A (p.Thr641=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000378860.3
Variation ID:
378860
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.1923G>A (p.Thr641=)

Allele ID
368046
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6301718 (GRCh38) GRCh38 UCSC
4: 6303445 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6303445G>A
NC_000004.12:g.6301718G>A
NM_006005.3:c.1923G>A MANE Select NP_005996.2:p.Thr641= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:6301717:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00012
Exome Aggregation Consortium (ExAC) 0.00008
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00016
Links
ClinGen: CA2839547
dbSNP: rs139040290
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 31, 2015 RCV000441905.2
Likely benign 1 criteria provided, single submitter Nov 24, 2020 RCV001459951.1
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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
(Mar 31, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000515275.4
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)
Likely 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: SCV001365985.1
Submitted: (May 14, 2020)
Evidence details
Comment:
Thr641Thr in Exon 08 of WFS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is … (more)
Likely benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001663807.1
Submitted: (Jan 07, 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 rs139040290...

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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 07, 2021