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NM_212472.2(PRKAR1A):c.618_621del (p.Ile206fs)

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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:
VCV000012665.2
Variation ID:
12665
Description:
4bp deletion
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NM_212472.2(PRKAR1A):c.618_621del (p.Ile206fs)

Allele ID
27704
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
17q24.2
Genomic location
17: 68525820-68525823 (GRCh38) GRCh38 UCSC
17: 66521961-66521964 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_514:g.117200_117203del
NC_000017.10:g.66521963_66521966del
NC_000017.11:g.68525822_68525825del
... more HGVS
Protein change
I206fs
Other names
-
Canonical SPDI
NC_000017.11:68525819:ATTTAT:AT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341226
OMIM: 188830.0004
dbSNP: rs281864791
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 RCV000013501.19
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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: SCV000058237.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Sep 01, 2000)
no assertion criteria provided
Method: literature only
MYXOMA, INTRACARDIAC
Allele origin: germline
OMIM
Accession: SCV000033748.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
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
Familial myxomas in four siblings. Liebler GA The Journal of thoracic and cardiovascular surgery 1976 PMID: 1263542

Text-mined citations for rs281864791...

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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