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NM_212472.2(PRKAR1A):c.708+1G>T

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Mar 26, 2013)
Last evaluated:
Sep 20, 2012
Accession:
VCV000012672.2
Variation ID:
12672
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.708+1G>T

Allele ID
27711
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68525913 (GRCh38) GRCh38 UCSC
17: 66522054 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66522054G>T
NC_000017.11:g.68525913G>T
NM_212471.2:c.708+1G>T splice donor
... more HGVS
Protein change
-
Other names
IVS6DS, G-T, +1
Canonical SPDI
NC_000017.11:68525912:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 188830.0011
dbSNP: rs281864798
ClinGen: CA341230
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Sep 20, 2012 RCV000013508.20
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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
pathologic
(Sep 20, 2012)
no assertion criteria provided
Method: curation
Carney Complex
Allele origin: not provided
GeneReviews
Accession: SCV000058241.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Dec 01, 2002)
no assertion criteria provided
Method: literature only
CARNEY COMPLEX, TYPE 1
Allele origin: germline
OMIM
Accession: SCV000033755.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Carney Complex Stratakis CA - 2018 PMID: 20301463
Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. Groussin L American journal of human genetics 2002 PMID: 12424709

Text-mined citations for rs281864798...

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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 Apr 08, 2021