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NM_212472.2(PRKAR1A):c.349-5T>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 28, 2019
Accession:
VCV000580456.4
Variation ID:
580456
Description:
single nucleotide variant
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NM_212472.2(PRKAR1A):c.349-5T>C

Allele ID
571564
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q24.2
Genomic location
17: 68523720 (GRCh38) GRCh38 UCSC
17: 66519861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66519861T>C
NC_000017.11:g.68523720T>C
NM_001278433.1:c.349-5T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:68523719:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1456043929
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 28, 2019 RCV000704003.4
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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
408 596

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: unknown
Mendelics
Accession: SCV001140823.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(May 04, 2019)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV000832935.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change falls in intron 3 of the PRKAR1A gene. It does not directly change the encoded amino acid sequence of the PRKAR1A protein. … (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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1456043929...

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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 12, 2021