CD151 c.277-4C>A
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0212%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | acceptor -4 | acceptor splice region (-4, within the last 20 intronic nt) · inside the BP7-excluded zone |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.83 | GERP -4.3 |
| Overall | ||
| CADD | 0.481 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0212%
European (non-Finnish) · 250/1,179,896 alleles
Filtering AF
0.019%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0182%
Overall
0.0162%
262/1,612,562 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0212% | 4,720 |
| South Asian | 0.00769% | 13,010 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,820 |
| Admixed American | 0.00333% | 29,989 |
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.277-4C>A
- MANE Select
- NM_004357
- dbSNP
- rs376390859
- Type
- single nucleotide variant
- Location
- chr11:836765 (GRCh38)
- Gene constraint
- LOEUF 0.816 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.02
Similar variants
- CD151 p.Lys7Ter Pathogenic ★★ same type
- CD151 c.352-11C>G Uncertain significance ★★ same type
- CD151 c.702+4A>G Uncertain significance ★★ same type
- CD151 c.702+5G>C Uncertain significance ★★ same type
- CD151 p.Ala145Thr Uncertain significance ★★ ⚠ same type
- CD151 p.Ala81Thr Uncertain significance ★★ ⚠ same type
- CD151 p.Arg133Cys Uncertain significance ★★ ⚠ same type
- CD151 p.Arg165Gln 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/cd151-c-277-minus-4c-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown