NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 8, 2021
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:: RCV001022845.3

Allele description [Variation Report for NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)]

NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)

HGVS:

NC_000013.11:g.32326139G>A
NG_012772.3:g.15660G>A
NM_000059.4:c.464G>AMANE SELECT
NP_000050.2:p.Arg155Lys
NP_000050.3:p.Arg155Lys
LRG_293t1:c.464G>A
LRG_293:g.15660G>A
LRG_293p1:p.Arg155Lys
NC_000013.10:g.32900276G>A
NM_000059.3:c.464G>A

Protein change:

R155K

Links:

dbSNP: rs377639990

NCBI 1000 Genomes Browser:

rs377639990

Molecular consequence:

NM_000059.4:c.464G>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
SCV001184626	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001184626

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 8, 2021)

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, SCV001184626.4

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

Description

The p.R155K variant (also known as c.464G>A), located in coding exon 4 of the BRCA2 gene, results from a G to A substitution at nucleotide position 464. The arginine at codon 155 is replaced by lysine, an amino acid with highly similar properties. This alteration has been detected in a Peruvian breast cancer patient and not in 100 Peruvian controls (Buleje J et al. Mol Genet Genomic Med. 2017 Jun 28;5(5):481-494). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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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