ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8208_8209insAG (p.Leu2737fs)

dbSNP: rs483353122
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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) RCV000113888 SCV000301254 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113888 SCV000327839 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000496939 SCV001207565 pathogenic Hereditary breast ovarian cancer syndrome 2024-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2737Serfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 31273614). This variant is also known as c.8437insAG. ClinVar contains an entry for this variant (Variation ID: 126169). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113888 SCV000147299 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2013-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496939 SCV000587938 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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