BICRA p.Pro173=
c.519T>C · rs2911006 · VCV1262228
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 96.4%, eas) — 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 -0.13 | GERP 3.4, phastCons 0.46 |
| Overall | ||
| CADD | 1.884 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
96.4%
East Asian · 38,918/40,380 alleles
Filtering AF
95.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 95.2%
Overall
74.9%
1,142,719/1,525,910 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 96.4% | 1 |
| Amishnot grpmax-eligible | 85.9% | 1 |
| Admixed American | 82.2% | 1 |
| South Asian | 81.6% | 1 |
| African / African-American | 78.5% | 1 |
| Finnishnot grpmax-eligible | 78.3% | 1 |
| Remaining individualsnot grpmax-eligible | 76.2% | 1 |
| Middle Eastern | 76.1% | 1 |
| European (non-Finnish) | 73% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 69.4% | 1 |
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
- BICRA
- Protein
- p.Pro173=
- Coding
- c.519T>C
- MANE Select
- NM_001394372
- dbSNP
- rs2911006
- Type
- single nucleotide variant
- Location
- chr19:47679689 (GRCh38)
- Gene constraint
- LOEUF 0.659 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 42.79
Similar variants
- BICRA p.Gln290Ter Pathogenic/Likely pathogenic ★★ same type
- BICRA p.Ala1110Thr Uncertain significance ★★ ⚠ same type
- BICRA p.Ala313Pro Uncertain significance ★★ ⚠ same type
- BICRA p.Ala579Thr Uncertain significance ★★ ⚠ same type
- BICRA p.Arg1384Cys Uncertain significance ★★ ⚠ same type
- BICRA p.Arg802Cys Uncertain significance ★★ ⚠ same type
- BICRA p.Asn408Lys Uncertain significance ★★ ⚠ same type
- BICRA p.Gly441Arg 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/bicra-p-pro173 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown