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NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val) AND Carney complex, type 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 12, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000013505.29

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)]

NM_002734.5(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_002734.5(PRKAR1A):c.1A>G (p.Met1Val)
HGVS:
  • NC_000017.11:g.68515400A>G
  • NG_007093.3:g.106778A>G
  • NM_001276289.2:c.1A>G
  • NM_001276290.1:c.1A>G
  • NM_001278433.2:c.1A>G
  • NM_001369389.1:c.1A>G
  • NM_001369390.1:c.1A>G
  • NM_002734.5:c.1A>GMANE SELECT
  • NM_212471.3: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_514t2:c.1A>G
  • LRG_514:g.106778A>G
  • 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
Protein change:
M1V
Links:
OMIM: 188830.0008; dbSNP: rs281864779
NCBI 1000 Genomes Browser:
rs281864779
Molecular consequence:
  • NM_001276289.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001276290.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001278433.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001369389.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001369390.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_002734.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_212471.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_212472.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001276289.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276290.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278433.2: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_002734.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_212471.3: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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033752OMIM
no assertion criteria provided
Pathogenic
(Dec 12, 2000) 		germlineliterature only

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

SCV000058231GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

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 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, SCV000033752.3

#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, SCV000058231.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024