NM_000059.3(BRCA2):c.5692delG (p.Asp1898Metfs) AND Breast-ovarian cancer, familial 2

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 2010
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:: RCV000076940.2

Allele description

NM_000059.3(BRCA2):c.5692delG (p.Asp1898Metfs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.5692delG (p.Asp1898Metfs)

HGVS:

NC_000013.11:g.32340047delG
NG_012772.3:g.29568delG
NM_000059.3:c.5692delG
NP_000050.2:p.Asp1898Metfs
LRG_293t1:c.5692delG
LRG_293:g.29568delG
LRG_293p1:p.Asp1898Metfs
NC_000013.10:g.32914184delG

Nucleotide change:

5920DELG

Links:

dbSNP: rs398122539

NCBI 1000 Genomes Browser:

rs398122539

Molecular consequence:

NM_000059.3:c.5692delG - frameshift variant - [Sequence Ontology: SO:0001589]

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:

MedGen: C2675520; Orphanet: 145; OMIM: 612555

Age of onset:

All ages

Prevalence:

1-9 / 100 000 Orphanet: 145
Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108737	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Sep 8, 2010)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000108737

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Pathogenic
(Sep 8, 2010)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108737.2

#	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	3	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 29, 2016

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