ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8143A>T (p.Lys2715Ter) (rs863224469)

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Total submissions: 6
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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) RCV000238968 SCV000301247 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 RCV000199997 SCV000253758 pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2715*) 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 individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 216032). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000221489 SCV000274977 pathogenic Hereditary cancer-predisposing syndrome 2018-07-20 criteria provided, single submitter clinical testing The p.K2715* pathogenic mutation (also known as c.8143A>T), located in coding exon 17 of the BRCA2 gene, results from an A to T substitution at nucleotide position 8143. This changes the amino acid from a lysine to a stop codon within coding exon 17. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Counsyl RCV000238968 SCV000488718 likely pathogenic Breast-ovarian cancer, familial 2 2016-05-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283941 SCV001469457 pathogenic not provided 2020-07-28 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in general population data.
Sharing Clinical Reports Project (SCRP) RCV000238968 SCV000297562 pathogenic Breast-ovarian cancer, familial 2 2011-03-14 no assertion criteria provided clinical testing

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