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NM_003380.5(VIM):c.813C>T (p.Asp271=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 12, 2019)
Last evaluated:
May 31, 2018
Accession:
VCV000474044.2
Variation ID:
474044
Description:
single nucleotide variant
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NM_003380.5(VIM):c.813C>T (p.Asp271=)

Allele ID
460188
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p13
Genomic location
10: 17233862 (GRCh38) GRCh38 UCSC
10: 17275861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.17275861C>T
NC_000010.11:g.17233862C>T
NM_003380.5:c.813C>T NP_003371.2:p.Asp271= synonymous
NG_012413.1:g.10604C>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.05651 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.05313
Exome Aggregation Consortium (ExAC) 0.01703
The Genome Aggregation Database (gnomAD) 0.04871
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.05374
The Genome Aggregation Database (gnomAD), exomes 0.01386
1000 Genomes Project 0.05651
Links
ClinGen: CA5426572
dbSNP: rs4903
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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 Jul 26, 2017 RCV000548199.1
Benign 1 criteria provided, single submitter May 31, 2018 RCV000828313.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VIM - - GRCh38
GRCh37
5 26

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 26, 2017)
criteria provided, single submitter
Method: clinical testing
Cataract 30
Allele origin: germline
Invitae
Accession: SCV000653791.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(May 31, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000969998.1
Submitted: (Apr 12, 2019)
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)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019