BTRC p.His388=
c.1164C>T · rs199806547 · VCV729638
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.112%, amr)
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 0.83 | GERP -0.52, phastCons 1 |
| Overall | ||
| CADD | 9.277 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.112%
Admixed American · 67/60,024 alleles
Filtering AF
0.0901%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0823%
Overall
0.00477%
77/1,614,174 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.112% | 896 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,627 |
| African / African-American | 0.00133% | 75,044 |
| European (non-Finnish) | 0.000424% | 236,005 |
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
- BTRC
- Protein
- p.His388=
- Coding
- c.1164C>T
- MANE Select
- NM_033637
- dbSNP
- rs199806547
- Type
- single nucleotide variant
- Location
- chr10:101534727 (GRCh38)
- Gene constraint
- LOEUF 0.643 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.33 · 15 PDB
- Residue 388
- a β-strand
Similar variants
- BTRC p.Leu271Phe Uncertain significance ★★ ⚠ same type
- BTRC p.Leu86Phe Uncertain significance ★★ ⚠ same type
- BTRC c.556+7C>G Benign ★★ same type
- BTRC p.Ala543Ser Benign ★★ same type
- BTRC p.Ile229= Benign ★★ same type
- BTRC p.Leu387= Likely benign ★★ same type
- BTRC p.Pro592Arg Likely benign ★★ same type
- BTRC p.Pro592His 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/btrc-p-his388 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown