DOP1B p.Pro212=
c.636C>T · rs142768435 · VCV2652640
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0947%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -2.8 |
| Overall | ||
| CADD | 0.036 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0947%
European (non-Finnish) · 1,097/1,157,894 alleles
Filtering AF
0.09%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0882%
Overall
0.0762%
1,196/1,569,566 alleles · ultra-rare
exomes 1,093/1,417,342 · genomes 103/152,224 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0947% | 1,056 |
| African / African-American | 0.0642% | 1,558 |
| Remaining individualsnot grpmax-eligible | 0.0495% | 2,021 |
| Admixed American | 0.0325% | 3,076 |
| Finnishnot grpmax-eligible | 0.00641% | 15,605 |
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
- DOP1B
- Protein
- p.Pro212=
- Coding
- c.636C>T
- MANE Select
- NM_001320714
- dbSNP
- rs142768435
- Type
- single nucleotide variant
- Location
- chr21:36208859 (GRCh38)
- Gene constraint
- LOEUF 0.831 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.36
Similar variants
- DOP1B p.Ile343Met Uncertain significance ★★ ⚠ same type
- DOP1B p.Pro1079Ser Uncertain significance ★★ ⚠ same type
- DOP1B p.Val124Leu Uncertain significance ★★ ⚠ same type
- DOP1B p.Ala2159= Benign ★★ same type
- DOP1B p.Ala649Val Benign ★★ same type
- DOP1B p.Ala969= Benign ★★ same type
- DOP1B p.Arg1938His Benign ★★ same type
- DOP1B p.Asn726= Benign/Likely benign ★★ 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/dop1b-p-pro212 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown