DSPP p.Asp1047=
c.3141T>C · rs375385448 · VCV2654902
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.117%, 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 -1.8 |
| Overall | ||
| CADD | 0.294 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.117%
African / African-American · 51/43,602 alleles
Filtering AF
0.0913%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0822%
Overall
0.0139%
188/1,350,656 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.117% | 855 |
| Finnishnot grpmax-eligible | 0.0195% | 5,134 |
| Remaining individualsnot grpmax-eligible | 0.0134% | 7,447 |
| European (non-Finnish) | 0.0106% | 9,391 |
| East Asian | 0.00912% | 10,963 |
| South Asian | 0.00786% | 12,726 |
| Admixed American | 0.00489% | 20,437 |
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.Asp1047=
- Coding
- c.3141T>C
- dbSNP
- rs375385448
- Type
- single nucleotide variant
- Location
- chr4:87615803 (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-asp1047 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown