DSPP p.Ser912=
c.2736T>C · rs111215872 · VCV1280112
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 33.6%, mid) — 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 -0.73 | GERP -1.8 |
| Overall | ||
| CADD | 0.584 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
33.6%
Middle Eastern · 1,750/5,210 alleles
Filtering AF
32.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 31.7%
Overall
24.4%
340,911/1,397,324 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 33.6% | 3 |
| Finnishnot grpmax-eligible | 32.6% | 3 |
| Admixed American | 31% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 27.9% | 4 |
| European (non-Finnish) | 24.9% | 4 |
| Remaining individualsnot grpmax-eligible | 23.8% | 4 |
| Amishnot grpmax-eligible | 21.3% | 5 |
| South Asian | 18.2% | 5 |
| African / African-American | 17% | 6 |
| East Asian | 9.96% | 10 |
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.Ser912=
- Coding
- c.2736T>C
- dbSNP
- rs111215872
- Type
- single nucleotide variant
- Location
- chr4:87615398 (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-ser912 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown