BICRA p.Ser710=
c.2130C>T · rs575946170 · VCV2650170
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.678%, sas)
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 -2.4 | GERP -6.7 |
| Overall | ||
| CADD | 6.179 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.678%
South Asian · 586/86,438 alleles
Filtering AF
0.632%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.614%
Overall
0.0457%
718/1,570,092 alleles · rare
exomes 674/1,417,902 · genomes 44/152,190 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.678% | 148 |
| Remaining individualsnot grpmax-eligible | 0.059% | 1,696 |
| Middle Eastern | 0.0351% | 2,853 |
| East Asian | 0.0306% | 3,272 |
| European (non-Finnish) | 0.00645% | 15,509 |
| African / African-American | 0.00541% | 18,487 |
| Admixed American | 0.0036% | 27,811 |
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.Ser710=
- Coding
- c.2130C>T
- MANE Select
- NM_001394372
- dbSNP
- rs575946170
- Type
- single nucleotide variant
- Location
- chr19:47681999 (GRCh38)
- Gene constraint
- LOEUF 0.659 · pLI 0.03 (gnomAD)
- Structure
- AlphaFold pLDDT 42.79
- Residue 710
- a UniProt-annotated variant site (in css12)
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-ser710 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown