ASPN p.Asp44=
c.132T>C · rs150545989 · VCV3040749
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0329%, mid)
Conditions
1
ASPN-related disorder
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 -3.8 | GERP -2.3 |
| Overall | ||
| CADD | 0.315 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0329%
Middle Eastern · 2/6,080 alleles
Filtering AF
0.0242%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0232%
Overall
0.0207%
334/1,612,810 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0329% | 3,040 |
| Ashkenazi Jewishnot grpmax-eligible | 0.027% | 3,700 |
| European (non-Finnish) | 0.0266% | 3,756 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,940 |
| African / African-American | 0.00134% | 74,728 |
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
- ASPN
- Protein
- p.Asp44=
- Coding
- c.132T>C
- MANE Select
- NM_017680
- dbSNP
- rs150545989
- Type
- single nucleotide variant
- Location
- chr9:92474766 (GRCh38)
- Gene constraint
- LOEUF 1.526 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.71
- Residue 44
- the 'disordered' region
Disease context
ASPN-related disorder
Similar variants
- ASPN p.Gly192Glu Benign ⚠ same condition
- ASPN p.Leu243= Likely benign same condition
- ASPN p.Met30Thr Likely benign ⚠ same condition
- ASPN p.Ser126= Likely benign same condition
- CENPP c.564+94884TCA[18] Benign same condition
- ASPN p.Asn209Lys Uncertain significance ★ ⚠ same type
- ASPN p.Pro21His Uncertain significance ★ ⚠ same type
- ASPN p.Arg364Cys 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/aspn-p-asp44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown