ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8954-2A>T

dbSNP: rs1135401928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000845285 SCV004632489 likely pathogenic Hereditary breast ovarian cancer syndrome 2023-05-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 31343793; Invitae). Studies have shown that disruption of this splice site alters BRCA2 gene expression (PMID: 31343793). ClinVar contains an entry for this variant (Variation ID: 632615). Disruption of this splice site has been observed in individual(s) with breast cancer (PMID: 31343793). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 22 of the BRCA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology RCV000845285 SCV000916373 pathogenic Hereditary breast ovarian cancer syndrome 2019-03-01 no assertion criteria provided research

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