DISP1 p.Ser114=
c.342G>A · rs374294853 · VCV1981939
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0133%, afr)
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 -3.7 | GERP -4 |
| Overall | ||
| CADD | 6.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0133%
African / African-American · 10/74,990 alleles
Filtering AF
0.00722%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00549%
Overall
0.00233%
34/1,459,384 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0133% | 7,499 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,914 |
| South Asian | 0.0022% | 45,513 |
| European (non-Finnish) | 0.00127% | 78,526 |
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
- DISP1
- Protein
- p.Ser114=
- Coding
- c.342G>A
- MANE Select
- NM_001377229
- dbSNP
- rs374294853
- Type
- single nucleotide variant
- Location
- chr1:222943165 (GRCh38)
- Gene constraint
- LOEUF 1.028 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 65.21 · 4 PDB
Similar variants
- DISP1 p.Ser114Leu Uncertain significance ★★ ⚠ same residue
- DISP1 p.Ala1123Thr Uncertain significance ★★ ⚠ same type
- DISP1 p.Ala1204Thr Uncertain significance ★★ ⚠ same type
- DISP1 p.Ala248Val Uncertain significance ★★ ⚠ same type
- DISP1 p.Ala733Val Uncertain significance ★★ ⚠ same type
- DISP1 p.Arg1061His Uncertain significance ★★ ⚠ same type
- DISP1 p.Arg718His Uncertain significance ★★ ⚠ same type
- DISP1 p.Arg763His 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/disp1-p-ser114 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown