ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.1039del (p.Ala347fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV003482187 SCV004227973 likely pathogenic Hereditary breast ovarian cancer syndrome 2023-10-12 criteria provided, single submitter curation PVS1_strong, PS3_sup, PM2_sup Frameshift-variant which affects oligomerization domain and CTD. More c-terminal variants are classified pathogenic in Penkert et al., p.Ala347Pro shows only 11.3% of wild-type Transcriptional activity in yeast (Kato et al.). According to the ACMG gene specific: TP53 criteria we chose these criteria: PVS1 (strong pathogenic): Frameshift variant which affects oligomerziation domain, PS3 (supporting pathogenic): p.Ala347Pro shows only 11.3% of wild-type Transcriptional activity in yeast (Kato et al.), PM2 (supporting pathogenic): Absent from controls

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