NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 19, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001026644.3

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=)]

NM_002734.5(PRKAR1A):c.762T>C (p.Ser254=)

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.762T>C (p.Ser254=)
HGVS:
  • NC_000017.11:g.68527893T>C
  • NG_007093.3:g.119271T>C
  • NM_001276289.2:c.762T>C
  • NM_001276290.1:c.762T>C
  • NM_001278433.2:c.762T>C
  • NM_001369389.1:c.762T>C
  • NM_001369390.1:c.762T>C
  • NM_002734.5:c.762T>CMANE SELECT
  • NM_212471.3:c.762T>C
  • NM_212472.2:c.762T>C
  • NP_001263218.1:p.Ser254=
  • NP_001263219.1:p.Ser254=
  • NP_001265362.1:p.Ser254=
  • NP_001356318.1:p.Ser254=
  • NP_001356319.1:p.Ser254=
  • NP_002725.1:p.Ser254=
  • NP_002725.1:p.Ser254=
  • NP_997636.1:p.Ser254=
  • NP_997637.1:p.Ser254=
  • LRG_514t1:c.762T>C
  • LRG_514t2:c.762T>C
  • LRG_514:g.119271T>C
  • LRG_514p1:p.Ser254=
  • LRG_514p2:p.Ser254=
  • NC_000017.10:g.66524034T>C
  • NM_002734.3:c.762T>C
  • NM_002734.4:c.762T>C
Links:
dbSNP: rs753621663
NCBI 1000 Genomes Browser:
rs753621663
Molecular consequence:
  • NM_001276289.2:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001276290.1:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278433.2:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369389.1:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369390.1:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002734.5:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212471.3:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_212472.2:c.762T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001189067Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Mar 19, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001189067.4

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 20, 2024