ClinVar Miner

Submissions for variant NM_000546.6(TP53):c.673-5C>G

dbSNP: rs876658684
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen TP53 Variant Curation Expert Panel, ClinGen RCV001723803 SCV001949919 likely benign Li-Fraumeni syndrome 1 2021-09-24 reviewed by expert panel curation This variant is absent in the gnomAD cohort (PM2_Supporting; The SpliceAI splice site predictor indicates that the variant has no impact on splicing (BP4). This variant has been observed in 2-7 60+ year old females without a cancer diagnosis (BS2_Supporting; Invitae). In summary, TP53 c.673-5C>G meets criteria to be classified as likely benign for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: PM2_Supporting, BP4, BS2_Supporting.
Ambry Genetics RCV000221792 SCV000274270 likely benign Hereditary cancer-predisposing syndrome 2022-09-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000531487 SCV000629852 likely benign Li-Fraumeni syndrome 2024-01-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221792 SCV000691614 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001712328 SCV001940212 likely benign not provided 2019-04-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25074920)

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