AFF2 p.Asn1192fs
c.3575del · rs1064796818 · VCV424137
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 19 of 21 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.8 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,191,952). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- AFF2
- Protein
- p.Asn1192fs
- Coding
- c.3575del
- MANE Select
- NM_002025
- dbSNP
- rs1064796818
- Type
- Deletion
- Location
- chrX:148980739 (GRCh38)
- Structure
- AlphaFold pLDDT 49.27
Similar variants
- AFF2 p.Asn1192= Uncertain significance ★ same residue
- AFF2 p.Asn1192Thr Uncertain significance ★ same residue
- AFF2 c.1350_1397+1491del Pathogenic ★ same type
- AFF2 c.2568+5_2568+13del Uncertain significance ★ same type
- AFF2 p.Ile1001_Ala1010del Likely benign ★ same type
- AFF2 p.Val996_Thr999del Likely benign ★ 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/aff2-p-asn1192fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown