CIB1 p.Ser145=
c.435T>C · rs34958365 · VCV710077
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.79%, 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 -2.2 | GERP -2.8 |
| Overall | ||
| CADD | 1.104 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.79%
African / African-American · 2,840/75,018 alleles
Filtering AF
3.67%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.62%
Overall
0.223%
3,601/1,614,120 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.79% | 26 |
| Ashkenazi Jewishnot grpmax-eligible | 0.476% | 210 |
| Remaining individualsnot grpmax-eligible | 0.312% | 321 |
| Admixed American | 0.267% | 375 |
| Middle Eastern | 0.148% | 674 |
| South Asian | 0.0253% | 3,960 |
| European (non-Finnish) | 0.0195% | 5,131 |
| East Asian | 0.00668% | 14,961 |
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
- CIB1
- Protein
- p.Ser145=
- Coding
- c.435T>C
- MANE Select
- NM_006384
- dbSNP
- rs34958365
- Type
- single nucleotide variant
- Location
- chr15:90231125 (GRCh38)
- Gene constraint
- LOEUF 1.233 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.37 · 9 PDB
- Residue 145
- a UniProt-annotated variant site (in ev3; absence of cib1 protein in homozygous patient cells); an α-helix
Similar variants
- CIB1 p.Ala184Pro Uncertain significance ★★ ⚠ same type
- CIB1 p.Ala66Thr Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg113His Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg143Gln Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg143Trp Uncertain significance ★★ ⚠ same type
- CIB1 p.Arg72Gln Uncertain significance ★★ ⚠ same type
- CIB1 p.Asn155Asp Uncertain significance ★★ ⚠ same type
- CIB1 p.Asn169Ser 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/cib1-p-ser145 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown