BMPER c.133+8A>T
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.94%, nfe)
Conditions
1
BMPER-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.8 | GERP -0.47, phastCons 0.87 |
| Overall | ||
| CADD | 12.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.94%
European (non-Finnish) · 5,184/266,572 alleles
Filtering AF
1.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.88%
Overall
1.23%
5,670/459,200 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.94% | 51 |
| Remaining individualsnot grpmax-eligible | 1.33% | 75 |
| Middle Eastern | 0.374% | 267 |
| Ashkenazi Jewishnot grpmax-eligible | 0.278% | 360 |
| East Asian | 0.276% | 362 |
| South Asian | 0.229% | 436 |
| African / African-American | 0.213% | 469 |
| Admixed American | 0.0233% | 4,290 |
| Finnishnot grpmax-eligible | 0.0208% | 4,796 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BMPER
- Coding
- c.133+8A>T
- MANE Select
- NM_001365308
- dbSNP
- rs1350356122
- Type
- single nucleotide variant
- Location
- chr7:33905754 (GRCh38)
- Gene constraint
- LOEUF 0.652 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 80.24
Disease context
BMPER-related disorder
Similar variants
- BMPER c.219+1G>C Likely pathogenic same condition
- BMPER c.-1G>C Likely benign same condition
- BMPER c.*10C>T Likely benign same condition
- BMPER p.Glu288= Likely benign same condition
- BMPER p.Arg241Ter Likely pathogenic ★★ same type
- BMPER p.Gln309Ter Pathogenic ★★ same type
- BMPER p.Ala39Ser Uncertain significance ★★ ⚠ same type
- BMPER p.Ala486Val 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/bmper-c-133-plus-8a-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown