NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414608.1

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)]

NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)

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_002734.5(PRKAR1A):c.491_492del (p.Val164fs)
HGVS:
  • NC_000017.11:g.68524064TG[1]
  • NG_007093.3:g.115442TG[1]
  • NM_001276289.2:c.491_492del
  • NM_001276290.1:c.491_492del
  • NM_001278433.2:c.491_492del
  • NM_001369389.1:c.491_492del
  • NM_001369390.1:c.491_492del
  • NM_002734.5:c.491_492delMANE SELECT
  • NM_212471.3:c.491_492del
  • NM_212472.2:c.491_492del
  • NP_001263218.1:p.Val164fs
  • NP_001263219.1:p.Val164fs
  • NP_001265362.1:p.Val164fs
  • NP_001356318.1:p.Val164fs
  • NP_001356319.1:p.Val164fs
  • NP_002725.1:p.Val164fs
  • NP_997636.1:p.Val164fs
  • NP_997637.1:p.Val164fs
  • LRG_514t2:c.491_492del
  • LRG_514:g.115442TG[1]
  • LRG_514p2:p.Val164fs
  • NC_000017.10:g.66520205TG[1]
  • NC_000017.10:g.66520205_66520206del
  • NM_002734.3:c.491_492delTG
  • NM_002734.4:c.491_492del
  • NM_212472.1:c.491_492delTG
Protein change:
V164fs
Links:
OMIM: 188830.0001; dbSNP: rs281864790
NCBI 1000 Genomes Browser:
rs281864790
Molecular consequence:
  • NM_001276289.2:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276290.1:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278433.2:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369389.1:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369390.1:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002734.5:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_212471.3:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_212472.2:c.491_492del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490739GeneDxcriteria provided, single submitter
Pathogenic
(Aug 1, 2016)
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, SCV000490739.2

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

Description

The c.491_492delTG pathogenic variant in the PRKAR1A gene has been reported previously in association with Carney complex (Kirschner et al., 2000; Bertherat et al., 2009; Guo et al., 2015). The deletion causes a frameshift starting with codon Valine 164, changes this amino acid to a Aspartic Acid residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Val164AspfsX5. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay. Therefore, we interpret this variant as pathogenic.

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

Last Updated: May 28, 2021

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