NM_000059.3(BRCA2):c.6833_6837delTCTTA (p.Ile2278Serfs) AND Hereditary cancer-predisposing syndrome

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 9, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000162934.1

Allele description

NM_000059.3(BRCA2):c.6833_6837delTCTTA (p.Ile2278Serfs)

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.6833_6837delTCTTA (p.Ile2278Serfs)

Other names:

7061del5; 7057del5

HGVS:

NC_000013.11:g.32341188_32341192delTCTTA
NG_012772.3:g.30709_30713delTCTTA
NM_000059.3:c.6833_6837delTCTTA
NP_000050.2:p.Ile2278Serfs
LRG_293t1:c.6833_6837delTCTTA
LRG_293:g.30709_30713delTCTTA
LRG_293p1:p.Ile2278Serfs
NC_000013.10:g.32915325_32915329delTCTTA
U43746.1:n.7057_7061delCTTAT
U43746.1:n.7061_7065delTCTTA
p.I2278Sfs*13

Links:

Breast Cancer Information Core (BIC) (BRCA2): 7057&base_change=del CTTAT; Breast Cancer Information Core (BIC) (BRCA2): 7061&base_change=del TCTTA; dbSNP: rs80359626; dbSNP: rs80359627

NCBI 1000 Genomes Browser:

rs80359626

Molecular consequence:

NM_000059.3:c.6833_6837delTCTTA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:: MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000213421	Ambry Genetics,	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (9/4/14))	Pathogenic (Aug 9, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000213421

Ambry Genetics,

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (9/4/14))

Pathogenic
(Aug 9, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics,, SCV000213421.1

#	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	not provided	not provided

Last Updated: Aug 29, 2016

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