Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
May 11, 2020
Accession:
VCV000012662.5
Variation ID:
12662
Description:
2bp microsatellite
Help

NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)

Allele ID
27701
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
17q24.2
Genomic location
17: 68524064-68524065 (GRCh38) GRCh38 UCSC
17: 66520205-66520206 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.66520205TG[1]
NC_000017.11:g.68524064TG[1]
NM_002734.5:c.491_492del MANE Select NP_002725.1:p.Val164fs frameshift
... more HGVS
Protein change
V164fs
Other names
-
Canonical SPDI
NC_000017.11:68524063:TGTG:TG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341219
OMIM: 188830.0001
dbSNP: rs281864790
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter May 11, 2020 RCV000013498.29
Pathogenic 1 criteria provided, single submitter Aug 1, 2016 RCV000414608.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000490739.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.491_492delTG pathogenic variant in the PRKAR1A gene has been reported previously in association with Carney complex (Kirschner et al., 2000; Bertherat et al., 2009; … (more)
Pathogenic
(May 11, 2020)
criteria provided, single submitter
Method: clinical testing
Carney complex, type 1
Allele origin: germline
Invitae
Accession: SCV001234247.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Val164Aspfs*5) in the PRKAR1A gene. It is expected to result in an absent or disrupted protein … (more)
pathologic
(Sep 20, 2012)
no assertion criteria provided
Method: curation
Carney Complex
Allele origin: not provided
GeneReviews
Accession: SCV000058234.2
Submitted: (Mar 26, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Sep 01, 2000)
no assertion criteria provided
Method: literature only
CARNEY COMPLEX, TYPE 1
Allele origin: germline
OMIM
Accession: SCV000033745.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Carney Complex Stratakis CA - 2018 PMID: 20301463
Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG. Guo H World journal of surgical oncology 2015 PMID: 25890363
Carney complex with biatrial cardiac myxoma. Havrankova E Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia 2014 PMID: 24088910
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. Bertherat J The Journal of clinical endocrinology and metabolism 2009 PMID: 19293268
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Kirschner LS Human molecular genetics 2000 PMID: 11115848
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

Text-mined citations for rs281864790...

Help
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 28, 2021