U.S. flag

An official website of the United States government

  • delete

NM_000059.3(BRCA2):c.8322dupT (p.Met2775Tyrfs) 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:
RCV000045472.2

Allele description

NM_000059.3(BRCA2):c.8322dupT (p.Met2775Tyrfs)

Gene:
BRCA2:BRCA2, DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q13.1
Genomic location:
Preferred name:
NM_000059.3(BRCA2):c.8322dupT (p.Met2775Tyrfs)
HGVS:
  • NC_000013.11:g.32363524dupT
  • NG_012772.3:g.53045dupT
  • NM_000059.3:c.8322dupT
  • NP_000050.2:p.Met2775Tyrfs
  • LRG_293t1:c.8322dupT
  • LRG_293:g.53045dupT
  • LRG_293p1:p.Met2775Tyrfs
  • NC_000013.10:g.32937661dupT
  • NG_012772.3:g.53045_53046insT
  • NM_000059.3:c.8322_8323insT
  • NM_000059.3:c.8322dup
  • U43746.1:n.8550_8551insT
Nucleotide change:
8550insT
Links:
Breast Cancer Information Core (BIC) (BRCA2): 8550&base_change=ins T; dbSNP: rs80359706
NCBI 1000 Genomes Browser:
rs80359706
Molecular consequence:
  • NM_000059.3:c.8322dupT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073485Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, McGuire C, Neuhausen S.

Cancer Epidemiol Biomarkers Prev. 2005 Jul;14(7):1666-71.

PubMed [citation]
PMID:
16030099

Details of each submission

From Invitae,, SCV000073485.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2017