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NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000041047.5
Variation ID:
41047
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=)

Allele ID
49469
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68515486 (GRCh38) GRCh38 UCSC
17: 66511627 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66511627G>A
NC_000017.11:g.68515486G>A
NM_001276289.1:c.87G>A NP_001263218.1:p.Ala29= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:68515485:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00779 (A)

Allele frequency
1000 Genomes Project 0.00779
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01692
Exome Aggregation Consortium (ExAC) 0.01750
The Genome Aggregation Database (gnomAD) 0.01831
Trans-Omics for Precision Medicine (TOPMed) 0.01605
The Genome Aggregation Database (gnomAD), exomes 0.01779
Links
ClinGen: CA8729156
dbSNP: rs3730349
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 Nov 6, 2017 RCV000247351.4
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000229742.5
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000315884.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000354275.1
Benign 1 criteria provided, single submitter Dec 12, 2016 RCV000568769.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PRKAR1A - - GRCh38
GRCh37
412 607

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: SCV000309155.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Nov 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000514271.4
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)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV000287684.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Carney Complex
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405873.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Acrodysostosis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405872.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 12, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000664950.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)

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 rs3730349...

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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 Jun 23, 2021