PTPRM p.Pro402=
c.1206A>G · rs145226629 · VCV3041857
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.22%, sas)
Conditions
1
PTPRM-related disorder
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 -0.77 | GERP -4.2 |
| Overall | ||
| CADD | 6.248 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.22%
South Asian · 2,929/91,072 alleles
Filtering AF
3.12%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.08%
Overall
1.15%
18,508/1,613,912 alleles · low-frequency
exomes 16,807/1,461,538 · genomes 1,701/152,374 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 3.22% | 31 |
| Middle Eastern | 2.16% | 46 |
| African / African-American | 1.49% | 67 |
| Remaining individualsnot grpmax-eligible | 1.2% | 84 |
| European (non-Finnish) | 1.09% | 91 |
| Admixed American | 0.831% | 120 |
| Ashkenazi Jewishnot grpmax-eligible | 0.284% | 352 |
| Finnishnot grpmax-eligible | 0.142% | 704 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| East Asian | 0.00891% | 11,222 |
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
- PTPRM
- Protein
- p.Pro402=
- Coding
- c.1206A>G
- MANE Select
- NM_001105244
- dbSNP
- rs145226629
- Type
- single nucleotide variant
- Location
- chr18:8069759 (GRCh38)
- Gene constraint
- LOEUF 0.334 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.38 · 5 PDB
- Residue 402
- the fibronectin type-iii 2 domain
Disease context
PTPRM-related disorder
Similar variants
- PTPRM p.Phe1069Leu Uncertain significance ⚠ same condition
- PTPRM c.1754-6C>T Likely benign same condition
- PTPRM c.3462+9G>A Likely benign same condition
- PTPRM c.4045-5C>T Benign same condition
- PTPRM c.839-7C>G Likely benign same condition
- PTPRM p.Ala198= Likely benign same condition
- PTPRM p.Ala673= Likely benign same condition
- PTPRM p.Asn439= Benign 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/ptprm-p-pro402 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown