CIC p.Ala1787=
c.5361T>C · rs10410185 · VCV1246218
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 18.2%, mid) — 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 | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.7 | GERP -2.7 |
| Overall | ||
| CADD | 0.021 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
18.2%
Middle Eastern · 1,103/6,062 alleles
Filtering AF
17.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 16.9%
Overall
6.18%
99,687/1,612,864 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 18.2% | 5 |
| South Asian | 14.8% | 7 |
| Admixed American | 11.8% | 8 |
| African / African-American | 8.38% | 12 |
| Remaining individualsnot grpmax-eligible | 7.16% | 14 |
| Ashkenazi Jewishnot grpmax-eligible | 6.05% | 17 |
| European (non-Finnish) | 5.18% | 19 |
| Finnishnot grpmax-eligible | 4.28% | 23 |
| East Asian | 3.74% | 27 |
| Amishnot grpmax-eligible | 1.1% | 91 |
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
- CIC
- Protein
- p.Ala1787=
- Coding
- c.5361T>C
- MANE Select
- NM_005984 · reported on NM_001386298
- dbSNP
- rs10410185
- Type
- single nucleotide variant
- Location
- chr19:42291402 (GRCh38)
- Structure
- AlphaFold pLDDT 75.09
Similar variants
- CIC c.3179+1G>A Likely pathogenic ★★ same type
- CIC c.3179+1G>T Pathogenic ★★ same type
- CIC c.5903-2A>G Likely pathogenic ★★ same type
- CIC p.Asn1136Ser Likely pathogenic ★★ same type
- CIC p.Gln1134Ter Pathogenic ★★ same type
- CIC p.Gln1799Ter Likely pathogenic ★★ same type
- SLC25A1 c.821+1G>A Pathogenic ★★ same type
- SLC25A1 p.Ala274Val Pathogenic/Likely pathogenic ★★ 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/cic-p-ala1787 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown