BIRC6 p.Ser4302=
c.12906T>C · rs142781350 · VCV722696
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.44%, 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 -0.03 | GERP -1, phastCons 0.88 |
| Overall | ||
| CADD | 4.911 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.44%
African / African-American · 1,084/75,048 alleles
Filtering AF
1.37%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.34%
Overall
0.0774%
1,249/1,613,804 alleles · low-frequency
exomes 586/1,461,468 · genomes 663/152,336 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.44% | 69 |
| Admixed American | 0.122% | 822 |
| Remaining individualsnot grpmax-eligible | 0.11% | 905 |
| South Asian | 0.00329% | 30,351 |
| European (non-Finnish) | 0.0017% | 58,989 |
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.Ser4302=
- Coding
- c.12906T>C
- MANE Select
- NM_016252
- dbSNP
- rs142781350
- Type
- single nucleotide variant
- Location
- chr2:32547945 (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-ser4302 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown