ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.707A>C (p.Tyr236Ser) (rs730882026)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000161069 SCV000211803 uncertain significance not provided 2014-08-18 criteria provided, single submitter clinical testing This variant is denoted TP53 c.707A>C at the cDNA level, p.Tyr236Ser (Y236S) at the protein level, and results in the change of a Tyrosine to a Serine (TAC>TCC) in exon 7. This variant was observed as a somatic variation in several different cancer types (COSMIC, Lo Nigro 2012). Functional studies of this variant suggest that it may result in impaired transactivation capacity (IARC database. TP53 Tyr236Ser was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Tyrosine and Serine differ in some properties, this is considered a semi-conservative amino acid substitution. TP53 Tyr236Ser alters a position that is highly variable across species and is located in the region of interaction with AXIN1, HIPK1, ZNF385A, and FBXO42 (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether TP53 Tyr236Ser is a pathogenic mutation or a benign variant. This variant has been seen apparently mosaic. The variant is found in HEREDICANCER panel(s).

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