ASXL2 p.Pro145=
c.435A>G · VCV4954018
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
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 -2.8 | GERP -3.3 |
| Overall | ||
| CADD | 5.899 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,179,796 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000137%
2/1,461,528 alleles · very rare
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
- ASXL2
- Protein
- p.Pro145=
- Coding
- c.435A>G
- MANE Select
- NM_018263
- Type
- single nucleotide variant
- Location
- chr2:25771509 (GRCh38)
- Gene constraint
- LOEUF 0.239 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 47.17 · 1 PDB
- Residue 145
- the 'disordered' region
Similar variants
- ASXL2 p.Pro145Ala Uncertain significance ★ ⚠ same residue
- ASXL2 p.Pro145Leu Likely benign ★ same residue
- ASXL2 p.Ala1372Gly Uncertain significance ★★ ⚠ same type
- ASXL2 p.Ala336Ser Uncertain significance ★★ ⚠ same type
- ASXL2 p.Ala682Thr Uncertain significance ★★ ⚠ same type
- ASXL2 p.Ala844Pro Uncertain significance ★★ ⚠ same type
- ASXL2 p.Arg252Lys Uncertain significance ★★ ⚠ same type
- ASXL2 p.Asn803Lys 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/asxl2-p-pro145 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown