NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Nov 6, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

Allele description [Variation Report for NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=)]

NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=)

PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=)
  • NC_000017.11:g.68515486G>A
  • NG_007093.3:g.106864G>A
  • NM_001276289.1:c.87G>A
  • NM_001276290.1:c.87G>A
  • NM_001278433.1:c.87G>A
  • NM_001369389.1:c.87G>A
  • NM_001369390.1:c.87G>A
  • NM_002734.4:c.87G>A
  • NM_212471.2:c.87G>A
  • NM_212472.2:c.87G>A
  • NP_001263218.1:p.Ala29=
  • NP_001263219.1:p.Ala29=
  • NP_001265362.1:p.Ala29=
  • NP_001356318.1:p.Ala29=
  • NP_001356319.1:p.Ala29=
  • NP_002725.1:p.Ala29=
  • NP_997636.1:p.Ala29=
  • NP_997637.1:p.Ala29=
  • LRG_514t1:c.87G>A
  • LRG_514t2:c.87G>A
  • LRG_514:g.106864G>A
  • LRG_514p1:p.Ala29=
  • LRG_514p2:p.Ala29=
  • NC_000017.10:g.66511627G>A
  • NM_002734.3:c.87G>A
dbSNP: rs3730349
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001276289.1:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276290.1:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278433.1:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369389.1:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369390.1:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002734.4:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212471.2:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212472.2:c.87G>A - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000309155PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000514271GeneDxcriteria provided, single submitter
Likely benign
(Nov 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000309155.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000514271.4

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


This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Jun 23, 2021

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