ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.713G>C (p.Cys238Ser) (rs730882005)

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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067780 SCV001232859 pathogenic Li-Fraumeni syndrome 2019-03-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 238 of the TP53 protein (p.Cys238Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an affected individual undergoing multi-gene panel testing (PMID: 29470806). ClinVar contains an entry for this variant (Variation ID: 376575). This variant has been reported to affect TP53 protein function (PMID:12826609, 25294809, 21343334, 19681600). This variant disrupts the p.Cys238 amino acid residue in TP53. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12406399, 14673037, 15925506). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Department of Pediatrics,Memorial Sloan Kettering Cancer Center RCV001523834 SCV001478192 likely pathogenic Li-Fraumeni syndrome 1 2020-12-15 criteria provided, single submitter research
GeneDx RCV001551247 SCV001771714 pathogenic not provided 2019-06-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30840781, 29843463, 28160562, 29470806, 19681600, 29979965, 21343334, 20126990, 21197471, 7732013, 25294809, 25105660, 11166732, 14559903, 28303898, 29580149)
Database of Curated Mutations (DoCM) RCV000439773 SCV000507718 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419485 SCV000507719 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429749 SCV000507720 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440842 SCV000507721 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423226 SCV000507722 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434344 SCV000507723 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441115 SCV000507724 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424302 SCV000507725 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434584 SCV000507726 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442617 SCV000507727 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424531 SCV000507728 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432222 SCV000507729 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442527 SCV000507730 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425465 SCV000507731 likely pathogenic Chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435732 SCV000507732 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418923 SCV000507733 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425867 SCV000507734 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only

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