ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.74+23C>T

dbSNP: rs1453148314
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV002266553 SCV002548543 likely benign Breast-ovarian cancer, familial, susceptibility to, 3 2022-05-15 criteria provided, single submitter clinical testing TP53:c.74+23C>T is present in 0.00040% in the large population studies (GnomAd). The variant is predicted to create a de novo donor splice site in intron 2 by in silico splicing tools. Functional RNA study has shown that the variant causes insignificant splicing aberration leading to an out-of-frame transcript (PMID: 35806449). Therefore the variant was classified as likely benign (ACMG/AMP: BS3-Stand alone)

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