PTCH1 p.Phe987=
c.2961T>C · rs2136662098 · VCV1665970
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
2
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.45 | GERP -2.1 |
| Overall | ||
| CADD | 8.986 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,086 alleles
Overall
6.2e-05%
1/1,614,106 alleles · very rare
exomes 1/1,461,852 · genomes 0/152,254 · joint denominator
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
- PTCH1
- Protein
- p.Phe987=
- Coding
- c.2961T>C
- MANE Select
- NM_000264
- dbSNP
- rs2136662098
- Type
- single nucleotide variant
- Location
- chr9:95458220 (GRCh38)
- Gene constraint
- LOEUF 0.146 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 74.36 · 16 PDB
- Residue 987
- an α-helix; the 'extracellular domain 2 (ecd2)' region
Similar variants
- PTCH1 c.1068-1G>A Pathogenic/Likely pathogenic ★★ same condition
- PTCH1 c.1068-1G>T Likely pathogenic ★★ same condition
- PTCH1 c.1216-1G>A Pathogenic/Likely pathogenic ★★ same condition
- PTCH1 c.1347+1G>C Likely pathogenic ★★ same condition
- PTCH1 c.1348-1G>A Pathogenic ★★ same condition
- PTCH1 c.1348-2A>G Pathogenic ★★ same condition
- PTCH1 c.1503+1G>C Pathogenic ★★ same condition
- PTCH1 c.1504-1G>C Pathogenic/Likely 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/ptch1-p-phe987 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown