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NM_212472.2(PRKAR1A):c.546G>A (p.Thr182=)

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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:
Nov 26, 2020
Accession:
VCV000239385.8
Variation ID:
239385
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.546G>A (p.Thr182=)

Allele ID
242961
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68524955 (GRCh38) GRCh38 UCSC
17: 66521096 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66521096G>A
NC_000017.11:g.68524955G>A
NM_001369389.1:c.546G>A NP_001356318.1:p.Thr182= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:68524954:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00011
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA8729299
dbSNP: rs117639566
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 26, 2020 RCV000229573.7
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 5, 2018 RCV000610412.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000404114.2
Likely benign 1 criteria provided, single submitter Mar 7, 2017 RCV000573601.1
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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
Likely benign
(Feb 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000715898.1
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
(Mar 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000920084.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: PRKAR1A c.546G>A alters a conserved nucleotide resulting in a synonymous change and 5/5 in silico tools predict no significant effect on splicing. However, … (more)
Likely benign
(Mar 07, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674433.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Acrodysostosis 1 with or without hormone resistance
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405885.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000405884.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV000287681.6
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 rs117639566...

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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 14, 2021