NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter) AND Carney complex, type 1

Clinical significance:Pathogenic (Last evaluated: Apr 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000034288.3

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter)]

NM_212472.2(PRKAR1A):c.286C>T (p.Arg96Ter)

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.286C>T (p.Arg96Ter)
HGVS:
  • NC_000017.11:g.68522864C>T
  • NG_007093.3:g.114242C>T
  • NM_001276289.1:c.286C>T
  • NM_001276290.1:c.286C>T
  • NM_001278433.1:c.286C>T
  • NM_001369389.1:c.286C>T
  • NM_001369390.1:c.286C>T
  • NM_002734.4:c.286C>T
  • NM_212471.2:c.286C>T
  • NM_212472.2:c.286C>T
  • NP_001263218.1:p.Arg96Ter
  • NP_001263219.1:p.Arg96Ter
  • NP_001265362.1:p.Arg96Ter
  • NP_001356318.1:p.Arg96Ter
  • NP_001356319.1:p.Arg96Ter
  • NP_002725.1:p.Arg96Ter
  • NP_997636.1:p.Arg96Ter
  • NP_997637.1:p.Arg96Ter
  • LRG_514t1:c.286C>T
  • LRG_514t2:c.286C>T
  • LRG_514:g.114242C>T
  • LRG_514p1:p.Arg96Ter
  • LRG_514p2:p.Arg96Ter
  • NC_000017.10:g.66519005C>T
  • NM_212472.1:c.286C>T
Protein change:
R96*
Links:
dbSNP: rs281864783
NCBI 1000 Genomes Browser:
rs281864783
Molecular consequence:
  • NM_001276289.1:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001276290.1:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278433.1:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369389.1:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001369390.1:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_002734.4:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_212471.2:c.286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_212472.2:c.286C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058232GeneReviewsno assertion criteria providedpathologic
(Sep 20, 2012)
not providedcuration

SCV000287678Invitaecriteria provided, single submitter
Pathogenic
(Apr 9, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).

Urban C, Weinhäusel A, Fritsch P, Sovinz P, Weinhandl G, Lackner H, Moritz A, Haas OA.

J Pediatr Endocrinol Metab. 2007 Feb;20(2):247-52.

PubMed [citation]
PMID:
17396442

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
See all PubMed Citations (4)

Details of each submission

From GeneReviews, SCV000058232.2

#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, SCV000287678.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Arg96*) 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 varaint has been reported in the literature in an individual affected with Carney complex (PMID: 17396442). ClinVar contains an entry for this variant (Variation ID: 41386). 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 10, 2021

Support Center