ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10062_10070del (p.Ser3356_Gly3358del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005241758 SCV005888902 uncertain significance not provided 2024-09-12 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Located in a region that tolerates variation and lacks pathogenic variants; Observed in individual(s) with breast cancer (PMID: 37335020); Also known as 10290_10298delTGGTTCAAC; This variant is associated with the following publications: (PMID: 37335020)

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