BOC p.Ala715=
c.2145A>G · rs16860782 · VCV775894
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.06%, 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 -5.5 | GERP -4.6 |
| Overall | ||
| CADD | 0.135 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.06%
African / African-American · 1,543/75,018 alleles
Filtering AF
1.97%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.94%
Overall
0.111%
1,784/1,613,894 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.06% | 49 |
| Middle Eastern | 0.182% | 551 |
| Admixed American | 0.148% | 674 |
| Remaining individualsnot grpmax-eligible | 0.147% | 679 |
| South Asian | 0.00439% | 22,757 |
| European (non-Finnish) | 0.00373% | 26,817 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,598 |
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
- BOC
- Protein
- p.Ala715=
- Coding
- c.2145A>G
- MANE Select
- NM_001378074
- dbSNP
- rs16860782
- Type
- single nucleotide variant
- Location
- chr3:113279945 (GRCh38)
- Gene constraint
- LOEUF 0.789 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.98 · 3 PDB
- Residue 715
- the fibronectin type-iii 3 domain
Similar variants
- BOC p.Lys884Asn Benign ★★ same type
- BOC p.Pro829Arg Benign ★★ same type
- BOC p.Pro913Ser Benign ★★ same type
- BOC p.Ala226Thr Uncertain significance ★ ⚠ same type
- BOC p.Ala424Thr Uncertain significance ★ ⚠ same type
- BOC p.Ala470Val Uncertain significance ★ ⚠ same type
- BOC p.Ala503Val Uncertain significance ★ ⚠ same type
- BOC p.Ala578Thr 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/boc-p-ala715 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown