DSPP p.Asp1188=
c.3564T>C · rs111205184 · VCV1282422
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 25.7%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -3.1 |
| Overall | ||
| CADD | 0.259 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
25.7%
African / African-American · 16,925/65,904 alleles
Filtering AF
25.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 25.2%
Overall
6.64%
100,206/1,509,600 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 25.7% | 4 |
| Finnishnot grpmax-eligible | 11.5% | 9 |
| Middle Eastern | 10.1% | 10 |
| Ashkenazi Jewishnot grpmax-eligible | 9.52% | 11 |
| Remaining individualsnot grpmax-eligible | 7.48% | 13 |
| South Asian | 5.82% | 17 |
| European (non-Finnish) | 5.48% | 18 |
| Admixed American | 4.9% | 20 |
| East Asian | 1.06% | 94 |
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
- DSPP
- Protein
- p.Asp1188=
- Coding
- c.3564T>C
- dbSNP
- rs111205184
- Type
- single nucleotide variant
- Location
- chr4:87616226 (GRCh38)
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/dspp-p-asp1188 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown