NM_212472.2(PRKAR1A):c.709-7_709-2del AND Carney complex

Clinical significance:Pathogenic (Last evaluated: May 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013512.26

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.709-7_709-2del]

NM_212472.2(PRKAR1A):c.709-7_709-2del

Gene:
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_212472.2(PRKAR1A):c.709-7_709-2del
HGVS:
  • NC_000017.11:g.68527827_68527832TTTTTA[1]
  • NG_007093.3:g.119205_119210TTTTTA[1]
  • NM_001276289.1:c.709-7_709-2del
  • NM_001276290.1:c.709-7_709-2del
  • NM_001278433.1:c.709-7_709-2del
  • NM_001369389.1:c.709-7_709-2del
  • NM_001369390.1:c.709-7_709-2del
  • NM_002734.4:c.709-7_709-2del
  • NM_212471.2:c.709-7_709-2del
  • NM_212472.2:c.709-7_709-2del
  • LRG_514t1:c.709-7_709-2del
  • LRG_514t2:c.709-7_709-2del
  • LRG_514:g.119205_119210TTTTTA[1]
  • NC_000017.10:g.66523965_66523970del
  • NC_000017.10:g.66523968_66523973TTTTTA[1]
  • NM_212472.1:c.709-7_709-2delTTTTTA
  • NM_212472.1:c.709-7_709-2delTTTTTA
Links:
OMIM: 188830.0014; dbSNP: rs281864801
NCBI 1000 Genomes Browser:
rs281864801
Molecular consequence:
  • NM_001276289.1:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001276290.1:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001278433.1:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369389.1:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369390.1:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_002734.4:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_212471.2:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_212472.2:c.709-7_709-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Carney complex
Synonyms:
Carney syndrome; Carney myxoma-endocrine complex; Myxoma, spotty pigmentation, and endocrine overactivity
Identifiers:
MONDO: MONDO:0015285; MedGen: C0406810

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033759OMIMno assertion criteria providedPathogenic
(May 1, 2006)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.

Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J.

J Clin Endocrinol Metab. 2006 May;91(5):1943-9. Epub 2006 Feb 7.

PubMed [citation]
PMID:
16464939

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.

Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J.

J Clin Endocrinol Metab. 2002 Sep;87(9):4324-9.

PubMed [citation]
PMID:
12213893

Details of each submission

From OMIM, SCV000033759.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 12 unrelated kindreds referred for Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD1; 610489), Groussin et al. (2006) reported a 6-bp polypyrimidine tract deletion extending from positions -7 to -2 in intron 6 of the PRKAR1A gene. Nine of the patients had no family history; in 2, there was a family history of isolated PPNAD. Only 1 patient met the criteria for Carney complex (CNC1; 160980). Some relatives carrying the same mutation had no manifestations of Carney complex or PPNAD, suggesting a low penetrance of this PRKAR1A defect. Groussin et al. (2002) originally described this mutation in 1 of 5 patients with PPNAD.

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

Last Updated: May 14, 2021

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