BPTF p.Cys2890fs
c.8670del · rs2148606524 · VCV1701329
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 27 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.5, phastCons 1 |
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
- BPTF
- Protein
- p.Cys2890fs
- Coding
- c.8670del
- MANE Select
- NM_182641
- dbSNP
- rs2148606524
- Type
- Deletion
- Location
- chr17:67975902 (GRCh38)
- Gene constraint
- LOEUF 0.09 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Similar variants
- BPTF p.Thr115_Arg119del Uncertain significance ★★ same type
- BPTF c.6701-19del Benign/Likely benign ★★ same type
- BPTF p.Arg101_Gly109del Likely benign ★★ same type
- BPTF c.8260_8261+2del Likely pathogenic ★ same type
- BPTF p.Arg2854fs Likely pathogenic ★ same type
- BPTF p.Arg68fs Pathogenic ★ same type
- BPTF p.Asn1101fs Pathogenic ★ same type
- BPTF p.Asn789fs 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/bptf-p-cys2890fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown