ASCC1 p.Glu156=
c.468A>G · rs1417729705 · VCV2184115
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00334%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.217 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP -0.28, phastCons 1 |
| Overall | ||
| CADD | 7.33 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00334%
Admixed American · 2/59,968 alleles
Filtering AF
0.000553%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000207%
Overall
0.000186%
3/1,613,226 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00334% | 29,984 |
| European (non-Finnish) | 8.47e-05% | 1,180,008 |
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
- ASCC1
- Protein
- p.Glu156=
- Coding
- c.468A>G
- MANE Select
- NM_001198800
- dbSNP
- rs1417729705
- Type
- single nucleotide variant
- Location
- chr10:72196832 (GRCh38)
- Gene constraint
- LOEUF 1.002 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.70 · 1 PDB
Similar variants
- ASCC1 p.Glu156Gly Uncertain significance ★ ⚠ same residue
- ASCC1 p.Glu156Lys Uncertain significance ★ ⚠ same residue
- ASCC1 c.311-2A>G Pathogenic ★★ same type
- ASCC1 c.626+1G>A Pathogenic/Likely pathogenic ★★ same type
- ASCC1 c.871+1G>A Pathogenic/Likely pathogenic ★★ same type
- ASCC1 p.Arg110Ter Pathogenic ★★ same type
- ASCC1 p.Arg117Ter Pathogenic ★★ same type
- ASCC1 p.Arg128Ter Pathogenic ★★ 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/ascc1-p-glu156 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown