NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter) AND Breast-ovarian cancer, familial 2

This record was updated by the submitter. Please see the current version.

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2016)
Review status:3 stars out of maximum of 4 stars
reviewed by expert panel

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Based on:: 4 submissions [Details]
Record status:: current
Accession:: RCV000031698.6

Allele description

NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)

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.7758G>A (p.Trp2586Ter)

HGVS:

NC_000013.11:g.32357882G>A
NG_012772.3:g.47403G>A
NM_000059.3:c.7758G>A
NM_000059.4:c.7758G>AMANE SELECT
NP_000050.2:p.Trp2586Ter
NP_000050.3:p.Trp2586Ter
LRG_293t1:c.7758G>A
LRG_293:g.47403G>A
LRG_293p1:p.Trp2586Ter
NC_000013.10:g.32932019G>A
U43746.1:n.7986G>A
p.Trp2586X

Nucleotide change:

7986G>A

Protein change:

W2586*

Links:

dbSNP: rs80359004

NCBI 1000 Genomes Browser:

rs80359004

Molecular consequence:

NM_000059.3:c.7758G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_000059.4:c.7758G>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial 2 (BROVCA2)
Synonyms:: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast 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
SCV000054305	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Jun 9, 2008)	germline	clinical testing
SCV000147173	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000301200	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,
SCV000327725	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter CIMBA Mutation Classification guidelines May 2016	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf Citation Link

Summary from all submissions

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Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	10	not provided	not provided	not provided	clinical testing, curation
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European, Near Eastern	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000054305.3

#	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 Breast Cancer Information Core (BIC) (BRCA2), SCV000147173.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Latin American, Caribbean	1	not provided	not provided	clinical testing	not provided
2	Western European, Near Eastern	1	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		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000301200.2

#	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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000327725.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	10	not provided

Last Updated: Apr 2, 2021

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