AMY1B p.Arg352Gln
c.1055G>A · VCV3861970
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00906%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.727 | pathogenic-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP 0.73, phastCons 0.01 |
| Regional constraint | o/e 0.02 | constrained · MANE · 8,187 bp · p 1e-10 · regional, not allelic |
| Overall | ||
| CADD | 25.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00906%
Admixed American · 2/22,068 alleles
Filtering AF
0.0016%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00066%
Overall
0.00123%
7/570,562 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00906% | 11,034 |
| European (non-Finnish) | 0.00113% | 88,376 |
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
- AMY1B
- Protein
- p.Arg352Gln
- Coding
- c.1055G>A
- MANE Select
- NM_001008218
- Type
- single nucleotide variant
- Location
- chr1:103691340 (GRCh38)
- Structure
- AlphaFold pLDDT 96.57
- Residue 352
- a binding site
Similar variants
- AMY1B p.Arg358His Uncertain significance ★ same type
- AMY1B p.Gly300Ser Uncertain significance ★ same type
- AMY1B p.Gly324Glu Uncertain significance ★ same type
- AMY1B p.Leu328Ile Uncertain significance ★ same type
- AMY1B p.Lys337Glu Uncertain significance ★ same type
- AMY1B p.Phe363Leu Uncertain significance ★ same type
- AMY1B p.Glu364Ala Likely 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/amy1b-p-arg352gln (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown