DIP2C p.His836=
c.2508C>T · rs200354695 · VCV1555107
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.423%, sas)
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 -3.6 | GERP -3.7 |
| Overall | ||
| CADD | 0.211 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.423%
South Asian · 385/91,048 alleles
Filtering AF
0.388%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.374%
Overall
0.0273%
441/1,612,474 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.423% | 236 |
| Remaining individualsnot grpmax-eligible | 0.0384% | 2,604 |
| Middle Eastern | 0.033% | 3,031 |
| African / African-American | 0.0147% | 6,816 |
| Admixed American | 0.00833% | 12,003 |
| East Asian | 0.00223% | 44,862 |
| Finnishnot grpmax-eligible | 0.0016% | 62,544 |
| European (non-Finnish) | 0.00102% | 98,329 |
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
- DIP2C
- Protein
- p.His836=
- Coding
- c.2508C>T
- MANE Select
- NM_014974
- dbSNP
- rs200354695
- Type
- single nucleotide variant
- Location
- chr10:363281 (GRCh38)
- Gene constraint
- LOEUF 0.235 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 79.64
Similar variants
- DIP2C p.His836Gln Uncertain significance ★ ⚠ same residue
- DIP2C p.Ala1066Thr Uncertain significance ★★ ⚠ same type
- DIP2C p.Ala1066Val Uncertain significance ★★ ⚠ same type
- DIP2C p.Ala1101Val Uncertain significance ★★ ⚠ same type
- DIP2C p.Ala1155Thr Uncertain significance ★★ ⚠ same type
- DIP2C p.Ala1466Thr Uncertain significance ★★ ⚠ same type
- DIP2C p.Ala193Val Uncertain significance ★★ ⚠ same type
- DIP2C p.Ala422Thr Uncertain significance ★★ ⚠ 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/dip2c-p-his836 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown