NM_000059.4(BRCA2):c.7636dup (p.Ser2546fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 2, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003494445.1

Allele description [Variation Report for NM_000059.4(BRCA2):c.7636dup (p.Ser2546fs)]

NM_000059.4(BRCA2):c.7636dup (p.Ser2546fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.7636dup (p.Ser2546fs)

HGVS:

NC_000013.11:g.32357760dup
NG_012772.3:g.47281dup
NM_000059.4:c.7636dupMANE SELECT
NM_001406719.1:c.7540dup
NM_001406720.1:c.7636dup
NM_001406721.1:c.2704dup
NM_001406722.1:c.1219dup
NP_000050.2:p.Ser2546Phefs
NP_000050.3:p.Ser2546fs
NP_001393648.1:p.Ser2514fs
NP_001393649.1:p.Ser2546fs
NP_001393650.1:p.Ser902fs
NP_001393651.1:p.Ser407fs
LRG_293t1:c.7636dup
LRG_293:g.47281dup
LRG_293p1:p.Ser2546Phefs
NC_000013.10:g.32931897dup
NM_000059.3:c.7636dup
NR_176251.1:n.7835dup

Protein change:

S2514fs

Molecular consequence:

NM_000059.4:c.7636dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406719.1:c.7540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406720.1:c.7636dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406721.1:c.2704dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406722.1:c.1219dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176251.1:n.7835dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004243777	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004243777

BRCAlab, Lund University

no assertion criteria provided

Pathogenic
(Mar 2, 2020)

germline

clinical testing

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

Details of each submission

From BRCAlab, Lund University, SCV004243777.1

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

#	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: Sep 1, 2024

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