NM_000059.4(BRCA2):c.7889_7890dup (p.Leu2631fs) AND Breast-ovarian cancer, familial, susceptibility to, 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000077014.12

Allele description [Variation Report for NM_000059.4(BRCA2):c.7889_7890dup (p.Leu2631fs)]

NM_000059.4(BRCA2):c.7889_7890dup (p.Leu2631fs)

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.7889_7890dup (p.Leu2631fs)

HGVS:

NC_000013.11:g.32362606_32362607dup
NG_012772.3:g.52127_52128dup
NM_000059.4:c.7889_7890dupMANE SELECT
NM_000059.4:c.7889_7890dupAA
NP_000050.3:p.Leu2631fs
LRG_293:g.52127_52128dup
NC_000013.10:g.32936743_32936744dup
NM_000059.3:c.7889_7890dupAA

Nucleotide change:

8118insAA

Protein change:

L2631fs

Links:

dbSNP: rs398122593

NCBI 1000 Genomes Browser:

rs398122593

Molecular consequence:

NM_000059.4:c.7889_7890dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000108811	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Feb 12, 2010)	germline	clinical testing
SCV000301218	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108811

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Pathogenic
(Feb 12, 2010)

germline

clinical testing

SCV000301218

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015)

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	curation
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108811.2

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301218.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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: Oct 26, 2024

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