ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) (rs397507419)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018830 SCV001180111 pathogenic Hereditary cancer-predisposing syndrome 2019-02-26 criteria provided, single submitter clinical testing The c.9096_9097delAA pathogenic mutation, located in coding exon 22 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 9096 to 9097, causing a translational frameshift with a predicted alternate stop codon (p.K3032Nfs*11). 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.
Color Health, Inc RCV001018830 SCV001348140 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193953 SCV001363146 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-08-16 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.9096_9097delAA (p.Lys3032AsnfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 245952 control chromosomes (gnomAD). To our knowledge, no occurrence of c.9096_9097delAA in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV001193953 SCV001585727 pathogenic Hereditary breast and ovarian cancer syndrome 2020-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys3032Asnfs*11) 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 observed in individual(s) with with breast and/or ovarian cancer (PMID: 29383094). ClinVar contains an entry for this variant (Variation ID: 823004). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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