KIT p.Gln252=
c.756G>A · rs2109679584 · VCV1476377
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00439%, sas)
Conditions
2
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.26 | donor loss · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 13.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00439%
South Asian · 4/91,050 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000891%
Overall
0.000274%
4/1,461,506 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- KIT
- Protein
- p.Gln252=
- Coding
- c.756G>A
- MANE Select
- NM_000222
- dbSNP
- rs2109679584
- Type
- single nucleotide variant
- Location
- chr4:54699766 (GRCh38)
- Gene constraint
- LOEUF 0.24 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 78.52 · 65 PDB
- Residue 252
- a disulfide bond; the ig-like c2-type 3 domain
Similar variants
- KIT p.Ala621Thr Pathogenic/Likely pathogenic ★★ same condition
- KIT p.Asp820Tyr Pathogenic ★★ same condition
- KIT p.Gln190Ter Pathogenic ★★ same condition
- KIT p.Leu576Pro Pathogenic/Likely pathogenic ★★ same condition
- KIT p.Lys642Glu Pathogenic ★★ same condition
- KIT p.Trp557Arg Pathogenic/Likely pathogenic ★★ same condition
- KIT p.Val559Ala Pathogenic/Likely pathogenic ★★ same condition
- KIT c.1232-3T>C Uncertain significance ★★ 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/kit-p-gln252 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown