DSPP p.Ser1148=
c.3444T>C · VCV3910413
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.298%, eas)
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 -1.7 |
| Overall | ||
| CADD | 0.658 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.298%
East Asian · 30/10,062 alleles
Filtering AF
0.215%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.186%
Overall
0.0431%
319/739,400 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.298% | 335 |
| South Asian | 0.127% | 788 |
| Admixed American | 0.109% | 921 |
| Remaining individualsnot grpmax-eligible | 0.0345% | 2,896 |
| European (non-Finnish) | 0.0338% | 2,962 |
| African / African-American | 0.0187% | 5,350 |
| Finnishnot grpmax-eligible | 0.0172% | 5,816 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0116% | 8,627 |
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.Ser1148=
- Coding
- c.3444T>C
- Type
- single nucleotide variant
- Location
- chr4:87616106 (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-ser1148 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown