NM_002734.5(PRKAR1A):c.850G>A (p.Val284Met) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 5, 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:: RCV003166324.2

Allele description [Variation Report for NM_002734.5(PRKAR1A):c.850G>A (p.Val284Met)]

NM_002734.5(PRKAR1A):c.850G>A (p.Val284Met)

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.850G>A (p.Val284Met)

HGVS:

NC_000017.11:g.68528950G>A
NG_007093.3:g.120328G>A
NM_001276289.2:c.850G>A
NM_001276290.1:c.850G>A
NM_001278433.2:c.850G>A
NM_001369389.1:c.850G>A
NM_001369390.1:c.850G>A
NM_002734.3:c.850G>A
NM_002734.5:c.850G>AMANE SELECT
NM_212471.3:c.850G>A
NM_212472.2:c.850G>A
NP_001263218.1:p.Val284Met
NP_001263219.1:p.Val284Met
NP_001265362.1:p.Val284Met
NP_001356318.1:p.Val284Met
NP_001356319.1:p.Val284Met
NP_002725.1:p.Val284Met
NP_002725.1:p.Val284Met
NP_997636.1:p.Val284Met
NP_997637.1:p.Val284Met
LRG_514t1:c.850G>A
LRG_514t2:c.850G>A
LRG_514:g.120328G>A
LRG_514p1:p.Val284Met
LRG_514p2:p.Val284Met
NC_000017.10:g.66525091G>A
NM_002734.4:c.850G>A

Protein change:

V284M

Links:

dbSNP: rs1264572252

NCBI 1000 Genomes Browser:

rs1264572252

Molecular consequence:

NM_001276289.2:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276290.1:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278433.2:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369389.1:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369390.1:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002734.5:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212471.3:c.850G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_212472.2:c.850G>A - 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
SCV003858630	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 5, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003858630

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 5, 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, SCV003858630.2

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

Description

The p.V284M variant (also known as c.850G>A), located in coding exon 8 of the PRKAR1A gene, results from a G to A substitution at nucleotide position 850. The valine at codon 284 is replaced by methionine, 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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