SPARC p.Asp244=
c.732C>T · rs758034123 · VCV1934217
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0167%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.6 | GERP -9.8 |
| Overall | ||
| CADD | 0.277 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0167%
Admixed American · 10/59,986 alleles
Filtering AF
0.009%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00681%
Overall
0.00192%
31/1,613,612 alleles · ultra-rare
exomes 30/1,461,408 · genomes 1/152,204 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0167% | 5,999 |
| South Asian | 0.00549% | 18,206 |
| African / African-American | 0.00133% | 74,922 |
| European (non-Finnish) | 0.00127% | 78,650 |
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
- SPARC
- Protein
- p.Asp244=
- Coding
- c.732C>T
- MANE Select
- NM_003118
- dbSNP
- rs758034123
- Type
- single nucleotide variant
- Location
- chr5:151666363 (GRCh38)
- Gene constraint
- LOEUF 0.844 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.07 · 4 PDB
- Residue 244
- a β-strand
Similar variants
- SPARC p.Arg195Trp Uncertain significance ★★ ⚠ same type
- SPARC p.Arg205Leu Uncertain significance ★★ ⚠ same type
- SPARC p.Arg218Trp Uncertain significance ★★ ⚠ same type
- SPARC p.Asn202Tyr Uncertain significance ★★ ⚠ same type
- SPARC p.Asp115Tyr Uncertain significance ★★ ⚠ same type
- SPARC p.Asp120Asn Uncertain significance ★★ ⚠ same type
- SPARC p.Asp219Glu Uncertain significance ★★ ⚠ same type
- SPARC p.Gly13Arg Uncertain significance ★★ ⚠ same type
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/sparc-p-asp244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown