NM_000059.3(BRCA2):c.6589delA (p.Thr2197Leufs) AND Familial cancer of breast

delete

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:: RCV000044987.2

Allele description

NM_000059.3(BRCA2):c.6589delA (p.Thr2197Leufs)

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.6589delA (p.Thr2197Leufs)

HGVS:

NC_000013.11:g.32340944delA
NG_012772.3:g.30465delA
NM_000059.3:c.6589delA
NP_000050.2:p.Thr2197Leufs
LRG_293t1:c.6589delA
LRG_293:g.30465delA
LRG_293p1:p.Thr2197Leufs
NC_000013.10:g.32915081delA

Links:

dbSNP: rs397507868

NCBI 1000 Genomes Browser:

rs397507868

Molecular consequence:

NM_000059.3:c.6589delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: CHEK2-Related Breast Cancer
Identifiers:: MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000073000	Invitae,	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

SCV000073000

Invitae,

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

Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.

Konecny M, Vizvaryova M, Zavodna K, Behulova R, Gerykova Bujalkova M, Krivulcik T, Cisarik F, Kausitz J, Weismanova E.

Breast Cancer Res Treat. 2010 Jan;119(1):233-7. doi: 10.1007/s10549-008-0244-6. Epub 2008 Nov 15.

PubMed [citation]

PMID:: 19011960

Details of each submission

From Invitae,, SCV000073000.2

#	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: Dec 7, 2017

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