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NM_212472.2(PRKAR1A):c.891+3A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 24, 2020
Accession:
VCV000012664.3
Variation ID:
12664
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.891+3A>G

Allele ID
27703
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68528994 (GRCh38) GRCh38 UCSC
17: 66525135 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66525135A>G
NC_000017.11:g.68528994A>G
NM_212472.2:c.891+3A>G
... more HGVS
Protein change
-
Other names
IVS8DS, A-G, +3
Canonical SPDI
NC_000017.11:68528993:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341225
OMIM: 188830.0003
dbSNP: rs281864799
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 3 criteria provided, single submitter Mar 24, 2020 RCV000013500.26
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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
403 585

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 24, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV001576383.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change falls in intron 9 of the PRKAR1A gene. It does not directly change the encoded amino acid sequence of the PRKAR1A protein, … (more)
Pathogenic
(Sep 01, 2000)
no assertion criteria provided
Method: literature only
CARNEY COMPLEX, TYPE 1
Allele origin: germline
OMIM
Accession: SCV000033747.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
pathologic
(Sep 20, 2012)
no assertion criteria provided
Method: curation
Carney Complex
Allele origin: not provided
GeneReviews
Accession: SCV000058248.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. Gaujoux S The Journal of clinical endocrinology and metabolism 2011 PMID: 21900385
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Kirschner LS Nature genetics 2000 PMID: 10973256
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs281864799...

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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 May 13, 2021