Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129516 | SCV000184291 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-01-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000633367 | SCV000754589 | pathogenic | Li-Fraumeni syndrome | 2019-11-04 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 281 of the TP53 protein (p.Asp281Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with choroid plexus carcinoma (PMID: 15925506). ClinVar contains an entry for this variant (Variation ID: 141141). Experimental studies have shown that this missense change disrupts the transcriptional transactivation function of the TP53 protein (PMID: 21343334, 12826609, 10064694). Different missense substitutions at this codon (p.Asp281Asn, p.Asp281Tyr, p.Asp281Val, p.Asp281Ala, p.Asp281Glu, p.Asp281His) have been reported in individuals with TP53-related cancers (PMID: 17572079, 25293557, 10864200, 17390010, 21305319, 23894400). This suggests that the aspartic acid residue may be critical for TP53 protein function, and that missense substitutions at this position may be pathogenic. For these reasons, this variant has been classified as Pathogenic. |
Database of Curated Mutations |
RCV000434395 | SCV000507978 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000442813 | SCV000507979 | likely pathogenic | Hepatocellular carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000426980 | SCV000507980 | likely pathogenic | Squamous cell carcinoma of the head and neck | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000436807 | SCV000507981 | likely pathogenic | Ovarian Serous Cystadenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000442068 | SCV000507982 | likely pathogenic | Uterine Carcinosarcoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425885 | SCV000507983 | likely pathogenic | Neuroblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000436592 | SCV000507984 | likely pathogenic | Breast neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000418481 | SCV000507985 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000429146 | SCV000507986 | likely pathogenic | Malignant melanoma of skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435472 | SCV000507987 | likely pathogenic | Squamous cell carcinoma of the skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000418257 | SCV000507988 | likely pathogenic | Adenocarcinoma of stomach | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428043 | SCV000507989 | likely pathogenic | Transitional cell carcinoma of the bladder | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438583 | SCV000507990 | likely pathogenic | Pancreatic adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000423959 | SCV000507991 | likely pathogenic | Multiple myeloma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000431187 | SCV000507992 | likely pathogenic | Renal cell carcinoma, papillary, 1 | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000441016 | SCV000507993 | likely pathogenic | Chronic lymphocytic leukemia | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000423760 | SCV000507994 | likely pathogenic | Squamous cell lung carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000433596 | SCV000507995 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only |