NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 6, 2016
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:: RCV000239453.2

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]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
Synonyms:: Breast-ovarian cancer, familial 2
Identifiers:: MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000282661	Centro de Genética y Biología Molecular, Universidad de San Martín de Porres - Mutational analysis of BRCA1 and BRCA2 genes in peruvian families with hereditary breast and ovarian cancer	criteria provided, single submitter (Population-based study)	Uncertain significance (Jun 6, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000282661

Centro de Genética y Biología Molecular, Universidad de San Martín de Porres - Mutational analysis of BRCA1 and BRCA2 genes in peruvian families with hereditary breast and ovarian cancer

criteria provided, single submitter

(Population-based study)

Uncertain significance
(Jun 6, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Centro de Genética y Biología Molecular, Universidad de San Martín de Porres - Mutational analysis of BRCA1 and BRCA2 genes in peruvian families with hereditary breast and ovarian cancer, SCV000282661.1

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

Description

No present in population-based study (100 controls)

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

Last Updated: Sep 29, 2024

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