NM_000059.3(BRCA2):c.6450dup (p.Val2151fs) AND Breast-ovarian cancer, familial 2

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

Clinical significance:Pathogenic (Last evaluated: Apr 22, 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:: RCV000113593.3

Allele description

NM_000059.3(BRCA2):c.6450dup (p.Val2151fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.6450dup (p.Val2151fs)

Other names:

6678insA; 6569dup

HGVS:

NC_000013.10:g.32914939_32914940insA
NC_000013.11:g.32340805dup
NG_012772.3:g.30326dup
LRG_293t1:c.6450dup
LRG_293:g.30326dup
LRG_293p1:p.Val2151fs
NC_000013.10:g.32914939_32914940insA
NC_000013.10:g.32914942dup
NC_000013.10:g.32914942dupA
NM_000059.3:c.6450dupA
NM_000059.4:c.6450dupAMANE SELECT
U43746.1:n.6678_6679insA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 6678&base_change=ins A; dbSNP: rs80359594

NCBI 1000 Genomes Browser:

rs80359594

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
SCV000146860	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000282425	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel ENIGMA BRCA1/2 Classification Criteria (2015)	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000327435	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,
SCV000677692	Counsyl	criteria provided, single submitter Counsyl Autosomal Dominant Disease Classification criteria (2015)	Pathogenic (Dec 21, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] 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	6	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Diagnostic criteria for testing for BRCA1 and BRCA2: the experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project.

Fries MH, Holt C, Carpenter I, Carter CL, Daniels J, Flanagan J, Murphy K, Hailey BJ, Martin L, Hume R, Hudson G, Cadman M, Weatherly R, Nunes ME.

Mil Med. 2002 Feb;167(2):99-103.

PubMed [citation]

PMID:: 11873550

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146860.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	2	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		2	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282425.1

#	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, SCV000327435.3

#	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	6	not provided

From Counsyl, SCV000677692.1

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

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

Last Updated: Sep 23, 2021

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