CD151 c.276+107del
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 97.7%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +107 | deep intronic (+107 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.2 | GERP -3 |
| Overall | ||
| CADD | 0.77 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
97.7%
East Asian · 34,998/35,808 alleles
Filtering AF
96.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 96.5%
Overall
91.2%
712,406/781,520 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 97.7% | 1 |
| Admixed American | 93.5% | 1 |
| Finnishnot grpmax-eligible | 93.1% | 1 |
| African / African-American | 92.5% | 1 |
| Amishnot grpmax-eligible | 91.9% | 1 |
| Remaining individualsnot grpmax-eligible | 90.8% | 1 |
| European (non-Finnish) | 90.5% | 1 |
| South Asian | 90% | 1 |
| Middle Eastern | 88.7% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 86.3% | 1 |
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
- CD151
- Coding
- c.276+107del
- MANE Select
- NM_004357
- dbSNP
- rs56063221
- Type
- Deletion
- Location
- chr11:836540 (GRCh38)
- Gene constraint
- LOEUF 0.816 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.02
Similar variants
- CD151 p.Cys208_Thr210del Likely pathogenic ★ same type
- CD151 c.616-42_616-11del Uncertain significance ★ same type
- CD151 p.Gly176fs Uncertain significance ★ same type
- CD151 p.Thr10del Uncertain significance ★ same type
- CD151 c.277-3del Benign ★ same type
- CD151 c.615+44del Benign ★ same type
- CD151 c.615+51del Benign ★ 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/cd151-c-276-plus-107del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown