BCAR1 p.Pro356=
c.1068G>A · rs112060276 · VCV713188
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.09%, 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 -16 | GERP -3.4 |
| Overall | ||
| CADD | 0.038 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.09%
African / African-American · 2,294/74,342 alleles
Filtering AF
2.98%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.94%
Overall
0.173%
2,732/1,575,392 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.09% | 32 |
| Admixed American | 0.349% | 287 |
| Remaining individualsnot grpmax-eligible | 0.233% | 430 |
| Ashkenazi Jewishnot grpmax-eligible | 0.07% | 1,428 |
| Middle Eastern | 0.0667% | 1,499 |
| South Asian | 0.00808% | 12,373 |
| European (non-Finnish) | 0.00663% | 15,092 |
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
- BCAR1
- Protein
- p.Pro356=
- Coding
- c.1068G>A
- MANE Select
- NM_014567
- dbSNP
- rs112060276
- Type
- single nucleotide variant
- Location
- chr16:75235831 (GRCh38)
- Gene constraint
- LOEUF 0.778 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.07 · 5 PDB
- Residue 356
- the 'substrate for kinases' region
Similar variants
- BCAR1 p.Pro356Leu Benign ★ same residue
- BCAR1 c.2100+10C>T Benign/Likely benign ★★ same type
- BCAR1 p.Ala411= Benign ★★ same type
- BCAR1 p.Ala514= Benign ★★ same type
- BCAR1 p.Ala590Thr Benign ★★ same type
- BCAR1 p.Arg491Leu Benign ★★ same type
- BCAR1 p.Gly450Val Benign ★★ same type
- BCAR1 p.Gly568Ser Benign ★★ 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/bcar1-p-pro356 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown