NM_000059.3(BRCA2):c.5065_5066delGCinsAAA (p.Ala1689Lysfs) 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:: May 29, 2002
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:: RCV000113372.1

Allele description

NM_000059.3(BRCA2):c.5065_5066delGCinsAAA (p.Ala1689Lysfs)

Gene:

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

Variant type:

Indel

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.3(BRCA2):c.5065_5066delGCinsAAA (p.Ala1689Lysfs)

Other names:

5293delGCinsAAA

HGVS:

NC_000013.11:g.32339420_32339421delGCinsAAA
NG_012772.3:g.28941_28942delGCinsAAA
NM_000059.3:c.5065_5066delGCinsAAA
NP_000050.2:p.Ala1689Lysfs
LRG_293t1:c.5065_5066delGCinsAAA
LRG_293:g.28941_28942delGCinsAAA
LRG_293p1:p.Ala1689Lysfs
NC_000013.10:g.32913557_32913558delGCinsAAA
U43746.1:n.5293_5294delGCinsAAA

Links:

Breast Cancer Information Core (BIC) (BRCA2): 5293&base_change=del GC ins AAA; dbSNP: rs276174852

NCBI 1000 Genomes Browser:

rs276174852

Molecular consequence:

NM_000059.3:c.5065_5066delGCinsAAA - 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
SCV000146527	Breast Cancer Information Core (BIC) (BRCA2)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000146527

Breast Cancer Information Core (BIC) (BRCA2)

no assertion criteria provided

Pathogenic
(May 29, 2002)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Sephardic Jewish	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA2), SCV000146527.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Sephardic Jewish	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

Last Updated: Aug 29, 2016

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