BCAM p.Cys237=
c.711C>T · rs3810141 · VCV3056456
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 17.8%, sas) — too common for a highly-penetrant pathogenic allele
Conditions
1
BCAM-related disorder
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 -2.7 | GERP -3.2 |
| Overall | ||
| CADD | 4.537 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
17.8%
South Asian · 16,203/91,074 alleles
Filtering AF
17.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 17.5%
Overall
6.93%
111,763/1,612,474 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 17.8% | 6 |
| Admixed American | 11.6% | 9 |
| African / African-American | 9.36% | 11 |
| Finnishnot grpmax-eligible | 7.3% | 14 |
| Remaining individualsnot grpmax-eligible | 7.12% | 14 |
| Middle Eastern | 6.96% | 14 |
| European (non-Finnish) | 5.88% | 17 |
| Ashkenazi Jewishnot grpmax-eligible | 4.25% | 24 |
| East Asian | 3.18% | 31 |
| Amishnot grpmax-eligible | 3.08% | 32 |
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.Cys237=
- Coding
- c.711C>T
- MANE Select
- NM_005581
- dbSNP
- rs3810141
- Type
- single nucleotide variant
- Location
- chr19:44813547 (GRCh38)
- Gene constraint
- LOEUF 1.102 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.29 · 2 PDB
- Residue 237
- a disulfide bond; the ig-like v-type 2 domain; a β-strand
Disease context
BCAM-related disorder
Similar variants
- BCAM p.Cys237Ter Pathogenic same residue
- BCAM c.1764-4C>T Likely benign same condition
- BCAM c.1882-9G>A Likely benign same condition
- BCAM c.433+8T>A Likely benign same condition
- BCAM p.Ala238= Benign same condition
- BCAM p.Lys451Gln Likely benign same condition
- BCAM p.Met204Lys Likely benign ⚠ same condition
- BCAM p.Pro39Leu Likely benign ⚠ same condition
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-cys237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown