PIGB p.Ser151=
c.453T>C · rs35201245 · VCV1666650
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.02%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.56 | GERP 0.1, phastCons 0.062 |
| Overall | ||
| CADD | 7.003 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.02%
African / African-American · 762/74,988 alleles
Filtering AF
0.956%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.932%
Overall
0.0661%
1,066/1,612,172 alleles · low-frequency
exomes 599/1,459,862 · genomes 467/152,310 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.02% | 98 |
| Admixed American | 0.143% | 702 |
| Middle Eastern | 0.132% | 758 |
| Remaining individualsnot grpmax-eligible | 0.131% | 761 |
| European (non-Finnish) | 0.0105% | 9,509 |
| South Asian | 0.00442% | 22,649 |
| Finnishnot grpmax-eligible | 0.00156% | 64,014 |
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
- PIGB
- Protein
- p.Ser151=
- Coding
- c.453T>C
- MANE Select
- NM_004855
- dbSNP
- rs35201245
- Type
- single nucleotide variant
- Location
- chr15:55327566 (GRCh38)
- Gene constraint
- LOEUF 1.098 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.48
- Residue 151
- a UniProt-annotated variant site (in dee80; uncertain significance)
Similar variants
- PIGB c.795-1G>C Likely pathogenic ★★ same type
- PIGB c.795-2A>G Likely pathogenic ★★ same type
- PIGB c.847-10A>G Pathogenic ★★ same type
- PIGB p.Asp155His Likely pathogenic ★★ same type
- PIGB p.Leu131Ter Pathogenic ★★ same type
- PIGB p.Lys31Ter Pathogenic ★★ same type
- PIGB p.Ala400Thr Uncertain significance ★★ ⚠ same type
- PIGB p.Arg339Trp 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/pigb-p-ser151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown