Variant · Snv

TP53 G244S

CI-VAR-00001671Explore in graph →NP_000537.3:p.Gly244SerNM_000546.5:c.730G>AClinVar 376600 CIViC 1060 rs1057519989

Curated evidence

Evidence by cancer (2 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Li Fraumeni Syndrome 11unmapped disease
TP53 G244S	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7336 In this study, a family of nine subjects with Li Fraumeni Syndrome suffering from a variety of tumors and cancer types was examined for TP53 mutations. Upon PCR amplification and sequencing of the DNA… (full text at CIViC) PMID 26818906 · Hu et al., 2016 · Open in CIViC	civic
Unmapped disease1unmapped disease
TP53 G244S	(functional)	Functional	D	Supports Dominant Negative	3	accepted	EID10252 A set of previously characterized p53 mutants was tested in the yeast assay to understand their transdominant potential (dominant negative). Each mutant was expressed equally with the wild-type p53. T… (full text at CIViC)

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
376600	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Rhabdomyosarcoma; Li-Fraumeni syndrome 1; Gastric cancer; Malignant tumor of urinary bladder; Adrenocortical carcinoma, hereditary; Neoplasm; Diffuse midline glioma, H3 K27M-mutant; Juvenile type testicular granulosa cell tumor	germline/somatic	11