BICC1 p.Val183=
c.549A>G · rs141141471 · VCV2183691
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0491%, eas)
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 -0.7 | GERP -5 |
| Overall | ||
| CADD | 0.437 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0491%
East Asian · 22/44,792 alleles
Filtering AF
0.0332%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.028%
Overall
0.00404%
65/1,607,372 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0491% | 2,036 |
| South Asian | 0.0209% | 4,780 |
| Remaining individualsnot grpmax-eligible | 0.0193% | 5,192 |
| African / African-American | 0.012% | 8,320 |
| European (non-Finnish) | 0.000256% | 391,373 |
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
- BICC1
- Protein
- p.Val183=
- Coding
- c.549A>G
- MANE Select
- NM_001080512
- dbSNP
- rs141141471
- Type
- single nucleotide variant
- Location
- chr10:58788372 (GRCh38)
- Gene constraint
- LOEUF 0.541 · pLI 0.30 (gnomAD)
- Structure
- AlphaFold pLDDT 61.02 · 3 PDB
- Residue 183
- the kh 1 domain
Similar variants
- BICC1 p.Ala190Thr Uncertain significance ★★ ⚠ same type
- BICC1 p.Ala276Ser Uncertain significance ★★ ⚠ same type
- BICC1 p.Ala523Val Uncertain significance ★★ ⚠ same type
- BICC1 p.Arg302Gln Uncertain significance ★★ ⚠ same type
- BICC1 p.Arg657Lys Uncertain significance ★★ ⚠ same type
- BICC1 p.Arg804His Uncertain significance ★★ ⚠ same type
- BICC1 p.Arg839His Uncertain significance ★★ ⚠ same type
- BICC1 p.Arg961Cys 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/bicc1-p-val183 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown