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NM_014915.2(ANKRD26):c.3913G>A (p.Val1305Ile)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000260467.1
Variation ID:
260467
Description:
single nucleotide variant
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NM_014915.2(ANKRD26):c.3913G>A (p.Val1305Ile)

Allele ID
253724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p12.1
Genomic location
10: 27028911 (GRCh38) GRCh38 UCSC
10: 27317840 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.27317840C>T
NC_000010.11:g.27028911C>T
NM_001256053.1:c.3910G>A NP_001242982.1:p.Val1304Ile missense
... more HGVS
Protein change
V1305I
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.31729 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.20313
1000 Genomes Project 0.31729
The Genome Aggregation Database (gnomAD) 0.20351
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.17227
The Genome Aggregation Database (gnomAD), exomes 0.22033
Exome Aggregation Consortium (ExAC) 0.22170
Links
dbSNP: rs10829163
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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 - RCV000245883.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000261512.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ANKRD26 - - GRCh38
GRCh37
118 133

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
Accession: SCV000312255.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Thrombocytopenia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000362040.2
Submitted: (Oct 18, 2016)
Evidence details

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 Aug 30, 2019