Is BRAF p.Pro492del (c.1475_1477del) pathogenic?

BRAF p.Pro492del (c.14751477del) is classified Likely pathogenic in BRAF (ClinVar, Single submitter, 1 submitter; last evaluated 2018-09-27). No gnomAD frequency available for this variant; Associated with cardiofaciocutaneous syndrome 1.

What condition is associated with BRAF p.Pro492del (c.1475_1477del)?

BRAF p.Pro492del (c.1475_1477del) is associated with cardiofaciocutaneous syndrome 1 (ClinVar).

How common is BRAF p.Pro492del (c.1475_1477del) in the general population?

BRAF p.Pro492del (c.1475_1477del) is no gnomAD frequency available for this variant (gnomAD).

BRAF p.Pro492del

c.1475_1477del · rs1800500908 · VCV976167

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cardiofaciocutaneous syndrome 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 6.8, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BRAF
Protein: p.Pro492del
Coding: c.1475_1477del
MANE Select: NM_004333
dbSNP: rs1800500908
Type: Deletion
Location: chr7:140778031 (GRCh38)
Gene constraint: LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 67.87 · 135 PDB
Residue 492: an α-helix; the protein kinase domain

Full BRAF gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cardiofaciocutaneous syndrome 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BRAF c.2128-27_2128-19del Likely benign ★★ same condition
BRAF p.Cys264fs Uncertain significance ★ same condition
BRAF p.Ala246Pro Pathogenic ★★★ same condition
BRAF p.Asn581Asp Pathogenic ★★★ same condition
BRAF p.Gln257Arg Pathogenic ★★★ ⚠ same condition
BRAF p.Gly464Glu Pathogenic ★★★ same condition
BRAF p.Gly469Glu Pathogenic ★★★ same condition
BRAF p.Gly596Val Pathogenic ★★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/braf-p-pro492del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown