BORCS8 p.Ser118=
c.354A>G · VCV3777826
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.491%, nfe)
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 -1.3 | GERP -1 |
| Overall | ||
| CADD | 4.964 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.491%
European (non-Finnish) · 5,630/1,146,702 alleles
Filtering AF
0.48%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.476%
Overall
0.387%
6,004/1,550,506 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.491% | 204 |
| Remaining individualsnot grpmax-eligible | 0.267% | 375 |
| Finnishnot grpmax-eligible | 0.172% | 581 |
| Ashkenazi Jewishnot grpmax-eligible | 0.112% | 894 |
| African / African-American | 0.0807% | 1,240 |
| Admixed American | 0.0295% | 3,392 |
| South Asian | 0.00477% | 20,985 |
| East Asian | 0.00244% | 40,904 |
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
- BORCS8
- Protein
- p.Ser118=
- Coding
- c.354A>G
- MANE Select
- NM_001145784
- Type
- single nucleotide variant
- Location
- chr19:19180734 (GRCh38)
- Gene constraint
- LOEUF 1.104 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.74
Similar variants
- BORCS8 p.Glu68Ter Likely pathogenic ★ same type
- BORCS8 p.Ala25Gly Uncertain significance ★ ⚠ same type
- BORCS8 p.Arg40His Uncertain significance ★ ⚠ same type
- BORCS8 p.Arg55Cys Uncertain significance ★ ⚠ same type
- BORCS8 p.Arg55Leu Uncertain significance ★ ⚠ same type
- BORCS8 p.Arg85His Uncertain significance ★ ⚠ same type
- BORCS8 p.Arg85Leu Uncertain significance ★ ⚠ same type
- BORCS8 p.Arg98Trp 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/borcs8-p-ser118 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown