DSPP p.Ser1210=
c.3630C>T · rs750535290 · VCV2654930
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.44%, afr)
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 -2.5 |
| Overall | ||
| CADD | 1.759 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.44%
African / African-American · 618/42,846 alleles
Filtering AF
1.35%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.31%
Overall
0.155%
1,955/1,262,238 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.44% | 69 |
| Finnishnot grpmax-eligible | 0.416% | 240 |
| Middle Eastern | 0.283% | 354 |
| Admixed American | 0.16% | 625 |
| Ashkenazi Jewishnot grpmax-eligible | 0.14% | 717 |
| Remaining individualsnot grpmax-eligible | 0.133% | 751 |
| South Asian | 0.131% | 764 |
| European (non-Finnish) | 0.0925% | 1,081 |
| East Asian | 0.0251% | 3,984 |
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.Ser1210=
- Coding
- c.3630C>T
- dbSNP
- rs750535290
- Type
- single nucleotide variant
- Location
- chr4:87616292 (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-ser1210 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown