ABCG4 p.Asn345=
c.1035C>T · rs12271907 · VCV778564
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 5%, 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 -11 | GERP -4 |
| Overall | ||
| CADD | 0.219 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5%
African / African-American · 3,742/74,874 alleles
Filtering AF
4.86%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.81%
Overall
0.307%
4,944/1,612,868 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5% | 20 |
| Admixed American | 0.593% | 169 |
| Remaining individualsnot grpmax-eligible | 0.413% | 242 |
| Middle Eastern | 0.314% | 319 |
| European (non-Finnish) | 0.0468% | 2,137 |
| Ashkenazi Jewishnot grpmax-eligible | 0.017% | 5,896 |
| South Asian | 0.011% | 9,092 |
| Finnishnot grpmax-eligible | 0.00469% | 21,337 |
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
- ABCG4
- Protein
- p.Asn345=
- Coding
- c.1035C>T
- MANE Select
- NM_022169
- dbSNP
- rs12271907
- Type
- single nucleotide variant
- Location
- chr11:119156981 (GRCh38)
- Gene constraint
- LOEUF 0.694 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.69
Similar variants
- ABCG4 p.Lys178= Benign ★★ same type
- ABCG4 p.Pro352Leu Benign ★★ same type
- ABCG4 p.Ala17Pro Uncertain significance ★ ⚠ same type
- ABCG4 p.Ala19Thr Uncertain significance ★ ⚠ same type
- ABCG4 p.Ala19Val Uncertain significance ★ ⚠ same type
- ABCG4 p.Ala212Thr Uncertain significance ★ ⚠ same type
- ABCG4 p.Ala234Ser Uncertain significance ★ ⚠ same type
- ABCG4 p.Ala28Thr 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/abcg4-p-asn345 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown