NM_002734.5(PRKAR1A):c.763A>G (p.Ile255Val) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2022
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:: RCV002388958.2

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.763A>G (p.Ile255Val)]

NM_002734.5(PRKAR1A):c.763A>G (p.Ile255Val)

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.763A>G (p.Ile255Val)

HGVS:

NC_000017.11:g.68527894A>G
NG_007093.3:g.119272A>G
NM_001276289.2:c.763A>G
NM_001276290.1:c.763A>G
NM_001278433.2:c.763A>G
NM_001369389.1:c.763A>G
NM_001369390.1:c.763A>G
NM_002734.5:c.763A>GMANE SELECT
NM_212471.3:c.763A>G
NM_212472.2:c.763A>G
NP_001263218.1:p.Ile255Val
NP_001263219.1:p.Ile255Val
NP_001265362.1:p.Ile255Val
NP_001356318.1:p.Ile255Val
NP_001356319.1:p.Ile255Val
NP_002725.1:p.Ile255Val
NP_997636.1:p.Ile255Val
NP_997637.1:p.Ile255Val
LRG_514t2:c.763A>G
LRG_514:g.119272A>G
LRG_514p2:p.Ile255Val
NC_000017.10:g.66524035A>G
NM_002734.3:c.763A>G

Protein change:

I255V

Links:

dbSNP: rs1282833520

NCBI 1000 Genomes Browser:

rs1282833520

Molecular consequence:

NM_001276289.2:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276290.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278433.2:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369389.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369390.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002734.5:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_212471.3:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_212472.2:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002674869	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 30, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002674869

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 30, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002674869.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.I255V variant (also known as c.763A>G), located in coding exon 7 of the PRKAR1A gene, results from an A to G substitution at nucleotide position 763. The isoleucine at codon 255 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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