ARRDC3 p.Lys151=
c.453A>G · rs34152201 · VCV768019
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 5.19%, afr) — too common for a highly-penetrant pathogenic allele
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 5.1 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 10.85 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.19%
African / African-American · 3,896/75,036 alleles
Filtering AF
5.06%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5%
Overall
0.29%
4,672/1,613,622 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.19% | 19 |
| Remaining individualsnot grpmax-eligible | 0.405% | 247 |
| Ashkenazi Jewishnot grpmax-eligible | 0.338% | 296 |
| Admixed American | 0.322% | 311 |
| Middle Eastern | 0.182% | 550 |
| European (non-Finnish) | 0.0174% | 5,754 |
| South Asian | 0.0143% | 7,006 |
| Finnishnot grpmax-eligible | 0.00156% | 64,040 |
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
- ARRDC3
- Protein
- p.Lys151=
- Coding
- c.453A>G
- MANE Select
- NM_020801
- dbSNP
- rs34152201
- Type
- single nucleotide variant
- Location
- chr5:91376678 (GRCh38)
- Gene constraint
- LOEUF 0.325 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 82.36 · 3 PDB
- Residue 151
- a β-strand
Similar variants
- ARRDC3 p.Ala227Thr Uncertain significance ★ ⚠ same type
- ARRDC3 p.Ala65Thr Uncertain significance ★ ⚠ same type
- ARRDC3 p.Arg109Gly Uncertain significance ★ ⚠ same type
- ARRDC3 p.Arg135His Uncertain significance ★ ⚠ same type
- ARRDC3 p.Arg284His Uncertain significance ★ ⚠ same type
- ARRDC3 p.Arg414Cys Uncertain significance ★ ⚠ same type
- ARRDC3 p.Arg414His Uncertain significance ★ ⚠ same type
- ARRDC3 p.Arg43Ser 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/arrdc3-p-lys151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown