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NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000413782.11
Variation ID:
413782
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.381T>C (p.Ala127=)

Allele ID
402500
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68523757 (GRCh38) GRCh38 UCSC
17: 66519898 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66519898T>C
NC_000017.11:g.68523757T>C
NM_001276289.1:c.381T>C NP_001263218.1:p.Ala127= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:68523756:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00012
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00009
Links
ClinGen: CA8729230
dbSNP: rs372669687
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 Sep 1, 2019 RCV000588396.4
Likely benign 1 criteria provided, single submitter Jun 6, 2017 RCV000574210.1
Likely benign 1 criteria provided, single submitter Nov 26, 2020 RCV001084659.2
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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
(Feb 03, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698023.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The PRKAR1A c.381T>C (p.Ala127Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. . 5/5 splice prediction tools predict … (more)
Likely benign
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674430.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV000556794.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001249374.5
Submitted: (Jul 04, 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 rs372669687...

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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 Jul 10, 2021