NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter) AND Carney complex, type 1

Clinical significance:Pathogenic (Last evaluated: Oct 7, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000034284.3

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter)]

NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter)

Gene:
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_212472.2(PRKAR1A):c.124C>T (p.Arg42Ter)
HGVS:
  • NC_000017.11:g.68515523C>T
  • NG_007093.3:g.106901C>T
  • NM_001276289.1:c.124C>T
  • NM_001276290.1:c.124C>T
  • NM_001278433.1:c.124C>T
  • NM_001369389.1:c.124C>T
  • NM_001369390.1:c.124C>T
  • NM_002734.4:c.124C>T
  • NM_212471.2:c.124C>T
  • NM_212472.2:c.124C>T
  • NP_001263218.1:p.Arg42Ter
  • NP_001263219.1:p.Arg42Ter
  • NP_001265362.1:p.Arg42Ter
  • NP_001356318.1:p.Arg42Ter
  • NP_001356319.1:p.Arg42Ter
  • NP_002725.1:p.Arg42Ter
  • NP_997636.1:p.Arg42Ter
  • NP_997637.1:p.Arg42Ter
  • LRG_514t1:c.124C>T
  • LRG_514t2:c.124C>T
  • LRG_514:g.106901C>T
  • LRG_514p1:p.Arg42Ter
  • LRG_514p2:p.Arg42Ter
  • NC_000017.10:g.66511664C>T
  • NM_002734.3:c.124C>T
  • NM_212472.1:c.124C>T
Protein change:
R42*
Links:
dbSNP: rs281864782
NCBI 1000 Genomes Browser:
rs281864782
Molecular consequence:
  • NM_001276289.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276290.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278433.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369389.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369390.1:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002734.4:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_212471.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_212472.2:c.124C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Carney complex, type 1 (CNC1)
Synonyms:
CARNEY MYXOMA-ENDOCRINE COMPLEX
Identifiers:
MONDO: MONDO:0008057; MedGen: C2607929; Orphanet: 1359; OMIM: 160980

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058227GeneReviewsno assertion criteria providedpathologic
(Sep 20, 2012)
not providedcuration

SCV001588731Invitaecriteria provided, single submitter
Pathogenic
(Oct 7, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA.

Hum Mol Genet. 2000 Dec 12;9(20):3037-46.

PubMed [citation]
PMID:
11115848

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, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17.

PubMed [citation]
PMID:
19293268
PMCID:
PMC2690418
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000058227.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Invitae, SCV001588731.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg42*) in the PRKAR1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Carney complex (PMID: 11115848). This variant is also known as 211C>T. ClinVar contains an entry for this variant (Variation ID: 41382). Loss-of-function variants in PRKAR1A are known to be pathogenic (PMID: 11115848, 19293268). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 14, 2021

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