BCAM p.Pro244=
c.732C>G · rs139275212 · VCV740467
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.197%, 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 -2.3 | GERP -3.2 |
| Overall | ||
| CADD | 5.248 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.197%
African / African-American · 148/75,044 alleles
Filtering AF
0.171%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.161%
Overall
0.00998%
161/1,612,644 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.197% | 507 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,926 |
| Admixed American | 0.00667% | 15,002 |
| European (non-Finnish) | 0.00017% | 589,960 |
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
- BCAM
- Protein
- p.Pro244=
- Coding
- c.732C>G
- MANE Select
- NM_005581
- dbSNP
- rs139275212
- Type
- single nucleotide variant
- Location
- chr19:44813568 (GRCh38)
- Gene constraint
- LOEUF 1.102 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.29 · 2 PDB
- Residue 244
- the ig-like v-type 2 domain; an α-helix
Similar variants
- BCAM p.Arg282His Benign ★★ same type
- BCAM p.Leu409= Benign ★★ same type
- BCAM p.Pro589Leu Likely benign ★★ same type
- BCAM p.Thr539Ala Benign ★★ same type
- BCAM p.Val381Ile Benign ★★ same type
- BCAM p.Val540= Benign ★★ same type
- BCAM p.Ala129Ser Uncertain significance ★ ⚠ same type
- BCAM p.Ala129Thr 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/bcam-p-pro244 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown