BRAF p.Cys532=
c.1596T>C · rs2129018396 · VCV1292355
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.083 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 4.4, phastCons 1 |
| Overall | ||
| CADD | 9.397 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BRAF
- Protein
- p.Cys532=
- Coding
- c.1596T>C
- MANE Select
- NM_004333
- dbSNP
- rs2129018396
- Type
- single nucleotide variant
- Location
- chr7:140777010 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 67.87 · 135 PDB
- Residue 532
- an α-helix; the protein kinase domain
Similar variants
- BRAF p.Cys532Tyr Likely pathogenic ★★★ same residue
- BRAF p.Ala246Pro Pathogenic ★★★ same type
- BRAF p.Asn581Asp Pathogenic ★★★ same type
- BRAF p.Asp594Val Pathogenic ★★★ same type
- BRAF p.Gln257Arg Pathogenic ★★★ ⚠ same type
- BRAF p.Gly265Arg Likely pathogenic ★★★ same type
- BRAF p.Gly464Glu Pathogenic ★★★ same type
- BRAF p.Gly469Glu Pathogenic ★★★ same type
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-cys532 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown