C7 p.Ala698fs
c.2092_2095del · rs2478276765 · VCV2801945
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.038 | GERP -3.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. 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
- C7
- Protein
- p.Ala698fs
- Coding
- c.2092_2095del
- MANE Select
- NM_001565 · reported on NM_000587
- dbSNP
- rs2478276765
- Type
- Deletion
- Location
- chr5:40976764 (GRCh38)
- Structure
- AlphaFold pLDDT 89.67 · 6 PDB
Similar variants
- C7 p.Ala698Pro Uncertain significance ★ ⚠ same residue
- C7 c.2350+1del Likely pathogenic ★★ same type
- C7 p.Asn136fs Pathogenic/Likely pathogenic ★★ same type
- C7 p.Cys85fs Pathogenic/Likely pathogenic ★★ same type
- C7 p.Ser212fs Pathogenic/Likely pathogenic ★★ same type
- C7 p.Ala363fs Pathogenic ★ same type
- C7 p.Arg294fs Pathogenic ★ same type
- C7 p.Asn157fs Pathogenic ★ 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/c7-p-ala698fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown