NM_000059.4(BRCA2):c.2684del (p.Ala895fs) AND Familial cancer of breast

Germline classification:: not provided (1 submission)
Last evaluated:: Feb 1, 2013
Review status:: no classification 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:: RCV000044038.11

Allele description [Variation Report for NM_000059.4(BRCA2):c.2684del (p.Ala895fs)]

NM_000059.4(BRCA2):c.2684del (p.Ala895fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.2684del (p.Ala895fs)

Other names:

2912delC

HGVS:

NC_000013.11:g.32337039del
NG_012772.3:g.26560del
NM_000059.4:c.2684delMANE SELECT
NM_000059.4:c.2684delC
NP_000050.3:p.Ala895fs
LRG_293:g.26560del
NC_000013.10:g.32911176del
NM_000059.3:c.2684delC
U43746.1:n.2912delC

Links:

Breast Cancer Information Core (BIC) (BRCA2): 2912&base_change=del C; dbSNP: rs80359342

NCBI 1000 Genomes Browser:

rs80359342

Molecular consequence:

NM_000059.4:c.2684del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000072051	Labcorp Genetics (formerly Invitae), Labcorp	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000072051

Labcorp Genetics (formerly Invitae), Labcorp

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]

PMID:: 10923033

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000072051.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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