ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8560del (p.Tyr2854fs) (rs80359717)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113960 SCV000301289 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000045556 SCV000073569 pathogenic Hereditary breast and ovarian cancer syndrome 2016-10-12 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 20 of the BRCA2 mRNA (c.8560delT), causing a frameshift at codon 2854. This creates a premature translational stop signal (p.Tyr2854Metfs*9) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). This variant is also known as 8788delT. For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113960 SCV000327921 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657323 SCV000779054 pathogenic not provided 2017-08-15 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.8560delT at the cDNA level and p.Tyr2854MetfsX9 (Y2854MfsX9) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAAA[delT]ATGT. The deletion causes a frameshift which changes a Tyrosine to a Methionine at codon 2854, and creates a premature stop codon at position 9 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.8560delT has been reported in at least one individual with a family history of breast or ovarian cancer (Schroeder 2015). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113960 SCV000147400 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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