BIRC6 p.Pro1367=
c.4101C>T · rs34139419 · VCV780346
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 6.91%, afr) — too common for a highly-penetrant pathogenic allele
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 0.65 | GERP -4.7, phastCons 1 |
| Overall | ||
| CADD | 10.23 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.91%
African / African-American · 5,137/74,328 alleles
Filtering AF
6.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.69%
Overall
0.353%
5,666/1,603,612 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.91% | 14 |
| Remaining individualsnot grpmax-eligible | 0.42% | 238 |
| Admixed American | 0.33% | 303 |
| Middle Eastern | 0.1% | 995 |
| East Asian | 0.0179% | 5,595 |
| South Asian | 0.0112% | 8,941 |
| European (non-Finnish) | 0.00451% | 22,177 |
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
- BIRC6
- Protein
- p.Pro1367=
- Coding
- c.4101C>T
- MANE Select
- NM_016252
- dbSNP
- rs34139419
- Type
- single nucleotide variant
- Location
- chr2:32442221 (GRCh38)
- Gene constraint
- LOEUF 0.213 · pLI 1.00 (gnomAD)
Similar variants
- BIRC6 p.Gln853Arg Uncertain significance ★★ ⚠ same type
- BIRC6 p.Glu4506Asp Uncertain significance ★★ ⚠ same type
- BIRC6 c.7409-6T>C Likely benign ★★ same type
- BIRC6 p.Ala1549= Benign ★★ same type
- BIRC6 p.Ala3622Val Likely benign ★★ same type
- BIRC6 p.Ala4466= Benign/Likely benign ★★ same type
- BIRC6 p.Arg4605= Benign ★★ same type
- BIRC6 p.Asp4607= 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/birc6-p-pro1367 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown