BRAF G469E

CI-VAR-00001751Explore in graph →NP_001341538.1:p.Gly469GluNM_001354609.2:c.1406G>AClinVar 13974 CIViC 993 rs121913355

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 3 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
Breast Ductal Carcinoma1
BRAF G469E	Trametinib	Predictive	C	Supports Sensitivity Response	2	submitted	EID7861 Subprotocol R of the NCI-MATCH study tested the MEK inhibitor trametinib in non-V600 BRAF mutant tumors. 32 patients were eligible and received therapy with trametinib. Of these 1 patient had a confir… (full text at CIViC) PMID 31924734 · Johnson et al., 2020 · Open in CIViC	civic
Cutaneous Melanoma2
BRAF G469E	Sorafenib	Predictive	D	Supports Sensitivity Response	3	accepted	EID6003 In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition but underwent apoptosis after shRN… (full text at CIViC) PMID 18794803 ·

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
13974	Pathogenic	reviewed by expert panel	3	Cardiofaciocutaneous syndrome 1; RASopathy; Cardio-facio-cutaneous syndrome; Noonan syndrome and Noonan-related syndrome; Noonan syndrome 7; Noonan syndrome 1; BRAF-related disorder; Neoplasm	germline/somatic	21	Sep 17, 2024	clinvar

Unmapped disease2unmapped disease
BRAF G469E	(functional)	Functional	D	Supports Gain Of Function	5	submitted	EID12983 BRAF p.Gly469Glu (NM_004333.6:c.1406G>A) causes increased MEK phosphorylation, increased signaling through RAF1 (CRAF), it has low kinase activity. Class 3 BRAF variant. (In PMID: 15035987 AA numbers … (full text at CIViC) PMID 15035987 · Wan et al., 2004 · Open in CIViC	civic
BRAF G469E	(functional)	Functional	D	Supports Gain Of Function	5	submitted	EID12984 BRAF p.Gly469Glu (NM_004333.6:c.1406G>A) causes increased ratio of pERK/ERK, increased signaling through RAF1 (CRAF), it has low kinase activity. Class 3 BRAF variant. PMID 18794803 · Smalley et al., 2009 · Open in CIViC	civic