ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1054dup (p.Tyr352fs) (rs80359261)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130964 SCV000185879 pathogenic Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031306 SCV000145811 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768618 SCV000324884 pathogenic Breast and/or ovarian cancer 2015-08-12 criteria provided, single submitter clinical testing
Color RCV000130964 SCV000903408 pathogenic Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031306 SCV000326488 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031306 SCV000677668 likely pathogenic Breast-ovarian cancer, familial 2 2016-12-23 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000257966 SCV000588076 pathogenic Hereditary breast and ovarian cancer syndrome 2017-04-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031306 SCV000300383 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000365830 SCV000329132 pathogenic not provided 2018-04-11 criteria provided, single submitter clinical testing This duplication of one nucleotide in BRCA2 is denoted c.1054dupT at the cDNA level and p.Tyr352LeufsX6 (Y352LfsX6) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GAAAAA[dupT]ACTC. The duplication causes a frameshift which changes a Tyrosine to a Leucine at codon 352, and creates a premature stop codon at position 6 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.1054dupT, also denoted BRCA2 1282insT using alternate nomenclature, has been reported in the literature in several individuals with a personal and/or family history of breast and/or ovarian cancer (Sinclair 2002, Rashidi 2015, Dos Santos Vidal 2016, Maxwell 2017). We consider this variant to be pathogenic.
Invitae RCV000257966 SCV000549801 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr352Leufs*6) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals with a personal and/or family history of breast and/or ovarian cancer. (PMID: 25428384, 26941049, 28831036). This variant is also known as 1282insT in the literature. ClinVar contains an entry for this variant (Variation ID: 37725). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257966 SCV000587579 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031306 SCV000053911 pathogenic Breast-ovarian cancer, familial 2 2008-11-20 no assertion criteria provided clinical testing

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