NM_212472.2(PRKAR1A):c.618_621del (p.Ile206fs) AND Familial atrial myxoma

Clinical significance:Pathogenic (Last evaluated: Sep 20, 2012)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000013501.19

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.618_621del (p.Ile206fs)]

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

Gene:
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q24.2
Genomic location:
Preferred name:
NM_212472.2(PRKAR1A):c.618_621del (p.Ile206fs)
HGVS:
  • NC_000017.11:g.68525822_68525825del
  • NG_007093.3:g.117200_117203del
  • NM_001276289.1:c.618_621del
  • NM_001276290.1:c.618_621del
  • NM_001278433.1:c.618_621del
  • NM_001369389.1:c.618_621del
  • NM_001369390.1:c.618_621del
  • NM_002734.4:c.618_621del
  • NM_212471.2:c.618_621del
  • NM_212472.2:c.618_621del
  • NP_001263218.1:p.Ile206fs
  • NP_001263219.1:p.Ile206fs
  • NP_001265362.1:p.Ile206fs
  • NP_001356318.1:p.Ile206fs
  • NP_001356319.1:p.Ile206fs
  • NP_002725.1:p.Ile206fs
  • NP_997636.1:p.Ile206fs
  • NP_997637.1:p.Ile206fs
  • LRG_514t1:c.618_621del
  • LRG_514t2:c.618_621del
  • LRG_514:g.117200_117203del
  • LRG_514p1:p.Ile206fs
  • LRG_514p2:p.Ile206fs
  • NC_000017.10:g.66521963_66521966del
  • NM_212472.1:c.618_621delTTAT
Protein change:
I206fs
Links:
OMIM: 188830.0004; dbSNP: rs281864791
NCBI 1000 Genomes Browser:
rs281864791
Molecular consequence:
  • NM_001276289.1:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276290.1:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278433.1:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369389.1:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369390.1:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002734.4:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_212471.2:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_212472.2:c.618_621del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Familial atrial myxoma
Synonyms:
Intracardiac myxoma
Identifiers:
MONDO: MONDO:0009719; MedGen: C2931787; OMIM: 255960

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033748OMIMno assertion criteria providedPathogenic
(Sep 1, 2000)
germlineliterature only

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

SCV000058237GeneReviewsno assertion criteria providedpathologic
(Sep 20, 2012)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Familial myxomas in four siblings.

Liebler GA, Magovern GJ, Park SB, Cushing WJ, Begg FR, Joyner CR.

J Thorac Cardiovasc Surg. 1976 Apr;71(4):605-8.

PubMed [citation]
PMID:
1263542

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA.

Nat Genet. 2000 Sep;26(1):89-92.

PubMed [citation]
PMID:
10973256

Details of each submission

From OMIM, SCV000033748.2

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

Description

In affected members of a family segregating cardiac myxomas (255960) and no other features of Carney complex (CNC1; 160980), originally reported by Liebler et al. (1976), Kirschner et al. (2000) identified a heterozygous 4-bp deletion, 617TTAT, in exon 5 of the PRKAR1A gene. The deletion resulted in a frameshift after residue 204 and a stop codon after 26 missense residues. The mutation would abolish the second cAMP-binding domain.

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

From GeneReviews, SCV000058237.2

#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

Last Updated: Jun 14, 2021

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