SRCAP p.Arg2428fs
c.7282dup · rs2506726581 · VCV2702680
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 | escapes | premature termination codon in the last exon (34 of 34) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -2.4 | GERP -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
- SRCAP
- Protein
- p.Arg2428fs
- Coding
- c.7282dup
- MANE Select
- NM_006662
- dbSNP
- rs2506726581
- Type
- Duplication
- Location
- chr16:30737318 (GRCh38)
- Gene constraint
- LOEUF 0.223 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Residue 2428
- the 'disordered' region; a UniProt-annotated variant site (in dehmba); a UniProt-annotated variant site (in flhs)
Similar variants
- SRCAP p.Arg2428Cys Uncertain significance ★ ⚠ same residue
- SRCAP p.Pro1879fs Pathogenic/Likely pathogenic ★★ same type
- SRCAP p.Ser2422fs Pathogenic/Likely pathogenic ★★ same type
- SRCAP c.2630+18dup Likely benign ★★ same type
- SRCAP p.Gln2769_Arg2771dup Likely benign ★★ same type
- SRCAP p.Ala2409fs Likely pathogenic ★ same type
- SRCAP p.Ala454fs Pathogenic ★ same type
- SRCAP p.Arg1007fs 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/srcap-p-arg2428fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown