ABCB7 c.1935+8A>G
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.116%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -2.9, phastCons 0.079 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
| Overall | ||
| CADD | 1.518 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.116%
South Asian · 65/56,197 alleles
Filtering AF
0.093%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0849%
Overall
0.00564%
67/1,188,580 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.116% | 865 |
| Admixed American | 0.00219% | 45,696 |
| Remaining individualsnot grpmax-eligible | 0.00213% | 46,916 |
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
- ABCB7
- Coding
- c.1935+8A>G
- MANE Select
- NM_001271696
- dbSNP
- rs750875059
- Type
- single nucleotide variant
- Location
- chrX:75062320 (GRCh38)
- Structure
- AlphaFold pLDDT 78.19 · 4 PDB
Similar variants
- ABCB7 c.1659+5T>G Uncertain significance ★★ same type
- ABCB7 c.1935+5G>C Uncertain significance ★★ same type
- ABCB7 p.Ala5Glu Uncertain significance ★★ ⚠ same type
- ABCB7 p.Arg711His Uncertain significance ★★ ⚠ same type
- ABCB7 p.Asn378Asp Uncertain significance ★★ ⚠ same type
- ABCB7 p.Asp653Asn Uncertain significance ★★ ⚠ same type
- ABCB7 p.Glu494Gln Uncertain significance ★★ ⚠ same type
- ABCB7 p.Gly197Cys 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/abcb7-c-1935-plus-8a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown