Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000226900 | SCV001429626 | likely benign | Li-Fraumeni syndrome | 2022-01-10 | reviewed by expert panel | curation | Transactivation assays show retained function according to Kato, et al. and there is no evidence of a dominant negative effect or loss of function according to Giacomelli, et al. (BS3; PMID: 12826609, 30224644). This variant has a BayesDel score < 0.16 and Align GVGD (Zebrafish) is Class C0 (BP4). This variant has been observed in 2-7 60+ year old females without a cancer diagnosis (BS2_Supporting; Internal laboratory contributor). In summary, TP53 c.1163A>C (p.Glu388Ala) 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: BS3, BP4, BS2_Supporting. |
Ambry Genetics | RCV000129934 | SCV000184752 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 | RCV000226900 | SCV000285173 | likely benign | Li-Fraumeni syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000236435 | SCV000293950 | likely benign | not provided | 2020-11-02 | criteria provided, single submitter | clinical testing | Located in the critical functional domain: C-terminal regulatory domain (Bode 2004); This variant is associated with the following publications: (PMID: 22915647, 26534844, 17369817, 11124955, 21900752, 26269570, 33020477) |
Color Diagnostics, |
RCV000129934 | SCV000691579 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-29 | criteria provided, single submitter | clinical testing |