NM_000059.4(BRCA2):c.7165A>T (p.Arg2389Ter) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 27, 2024
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:: RCV004556993.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7165A>T (p.Arg2389Ter)]

NM_000059.4(BRCA2):c.7165A>T (p.Arg2389Ter)

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.7165A>T (p.Arg2389Ter)

HGVS:

NC_000013.11:g.32355018A>T
NG_012772.3:g.44539A>T
NM_000059.4:c.7165A>TMANE SELECT
NM_001406719.1:c.7069A>T
NM_001406720.1:c.7165A>T
NM_001406721.1:c.2233A>T
NM_001406722.1:c.748A>T
NP_000050.2:p.Arg2389Ter
NP_000050.3:p.Arg2389Ter
NP_001393648.1:p.Arg2357Ter
NP_001393649.1:p.Arg2389Ter
NP_001393650.1:p.Arg745Ter
NP_001393651.1:p.Arg250Ter
LRG_293t1:c.7165A>T
LRG_293:g.44539A>T
LRG_293p1:p.Arg2389Ter
NC_000013.10:g.32929155A>T
NM_000059.3:c.7165A>T
NR_176251.1:n.7364A>T

Protein change:

R2357*

Molecular consequence:

NR_176251.1:n.7364A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000059.4:c.7165A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406719.1:c.7069A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406720.1:c.7165A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406721.1:c.2233A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406722.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV005045913	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005045913

Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 27, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV005045913.1

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

Description

PVS1; PM2_supporting; PM5_PTC_Strong

#	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		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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Relating variation to medicine