NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) AND Carney complex, type 1

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:
RCV000013505.26

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val)]

NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val)

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.1A>G (p.Met1Val)
HGVS:
  • NC_000017.11:g.68515400A>G
  • NG_007093.3:g.106778A>G
  • NM_001276289.1:c.1A>G
  • NM_001276290.1:c.1A>G
  • NM_001278433.1:c.1A>G
  • NM_001369389.1:c.1A>G
  • NM_001369390.1:c.1A>G
  • NM_002734.4:c.1A>G
  • NM_212471.2:c.1A>G
  • NM_212472.2:c.1A>G
  • NP_001263218.1:p.Met1Val
  • NP_001263219.1:p.Met1Val
  • NP_001265362.1:p.Met1Val
  • NP_001356318.1:p.Met1Val
  • NP_001356319.1:p.Met1Val
  • NP_002725.1:p.Met1Val
  • NP_997636.1:p.Met1Val
  • NP_997637.1:p.Met1Val
  • LRG_514t1:c.1A>G
  • LRG_514t2:c.1A>G
  • LRG_514:g.106778A>G
  • LRG_514p1:p.Met1Val
  • LRG_514p2:p.Met1Val
  • NC_000017.10:g.66511541A>G
  • NG_007093.2:g.8432A>G
  • NM_002734.3:c.1A>G
  • NM_212472.1:c.1A>G
  • NP_002725.1:p.0
Protein change:
M1V
Links:
OMIM: 188830.0008; dbSNP: rs281864779
NCBI 1000 Genomes Browser:
rs281864779
Molecular consequence:
  • NM_001276289.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001276290.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001278433.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001369389.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001369390.1:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_002734.4:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_212471.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_212472.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001276289.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276290.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278433.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369389.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369390.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002734.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212471.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212472.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000033752OMIMno assertion criteria providedPathogenic
(Dec 12, 2000)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000058231GeneReviewsno 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

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

Details of each submission

From OMIM, SCV000033752.2

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

Description

In affected members of a family with Carney complex (CNC1; 160980), Kirschner et al. (2000) found an A-to-G transition at nucleotide 88 of the PRKAR1A gene, abolishing the ATG translation start codon in exon 2.

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

From GeneReviews, SCV000058231.2

#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: Apr 12, 2021

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