NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000523178.1

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000616832GeneDxcriteria provided, single submitter
Pathogenic
(Jul 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000616832.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1A>G variant in the PRKAR1A gene has previously been reported to segregate with disease in at least two families with features of Carney complex (Kirschner et al., 2000; Pereira et al., 2010). This variant is thought to lead to an alternate start codon downstream of the original start codon, and decrease binding of the PRKAR1A protein (Kirschner et al., 2000; Salpa et al., 2014). The c.1A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). As this variant changes the translator initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. Based on currently available evidence, we consider c.1A>G to be pathogenic.

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

Last Updated: Apr 12, 2021

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