AKT3 E17K

CI-VAR-00000678Explore in graph →NP_001193658.1:p.Glu17LysNM_001206729.1:c.49G>AClinVar 39816 CIViC 1227 rs397514606

Curated evidence

Evidence by cancer (1 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 1–1 of 1 evidence items across 1 cancer context 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
Melanoma1
AKT3 E17K	Vemurafenib	Predictive	D	Supports Resistance	3	accepted	EID4521 An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype AKT3 and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells virally induced to stably ove… (full text at CIViC) PMID 24265155 · Shi et al., 2014 · Open in CIViC	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
39816	Pathogenic	reviewed by expert panel	3	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes; Medulloblastoma; Cns neuroblastoma with FOXR2 activation	germline/somatic	3	Feb 12, 2022	clinvar