ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9658_9660del (p.Pro3220del)

dbSNP: rs2073049047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284460 SCV001470268 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094331 SCV005754763 uncertain significance Hereditary breast ovarian cancer syndrome 2024-05-21 criteria provided, single submitter clinical testing This variant, c.9658_9660del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Pro3220del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with ovarian cancer (PMID: 35409996). ClinVar contains an entry for this variant (Variation ID: 993183). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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