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NM_005163.2(AKT1):c.951C>A (p.Ala317=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 28, 2019
Accession:
VCV000473866.2
Variation ID:
473866
Description:
single nucleotide variant
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NM_005163.2(AKT1):c.951C>A (p.Ala317=)

Allele ID
463863
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.33
Genomic location
14: 104773257 (GRCh38) GRCh38 UCSC
14: 105239594 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.105239594G>T
NC_000014.9:g.104773257G>T
NM_001014431.2:c.951C>A NP_001014431.1:p.Ala317= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00009
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00010
1000 Genomes Project 0.00020
Links
dbSNP: rs17846831
ClinGen: CA7374611
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Feb 28, 2019 RCV000534938.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AKT1 - - GRCh38
GRCh37
167 226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000653517.3
Submitted: (Mar 14, 2019)
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 Dec 15, 2019