SMARCA1 p.Arg751Ter
c.2251C>T · VCV3958395
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 25 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 6.5 | GERP 0.97, phastCons 1 |
| Overall | ||
| CADD | 37.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No allele count reported in gnomAD v4.1 (AN 1,202,889). 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
- SMARCA1
- Protein
- p.Arg751Ter
- Coding
- c.2251C>T
- MANE Select
- NM_001282874
- Type
- single nucleotide variant
- Location
- chrX:129481152 (GRCh38)
- Structure
- AlphaFold pLDDT 75.48
Similar variants
- SMARCA1 p.Arg751Gln Uncertain significance ★★ ⚠ same residue
- SMARCA1 p.Ala39Thr Uncertain significance ★★ ⚠ same type
- SMARCA1 p.Ala48Glu Uncertain significance ★★ ⚠ same type
- SMARCA1 p.Ala6Pro Uncertain significance ★★ ⚠ same type
- SMARCA1 p.Asp721Asn Uncertain significance ★★ ⚠ same type
- SMARCA1 p.Gly30Arg Uncertain significance ★★ ⚠ same type
- SMARCA1 p.Lys680Glu Uncertain significance ★★ same type
- SMARCA1 p.Met1028Ile 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/smarca1-p-arg751ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown