DLC1 p.Arg1182=
c.3546C>A · rs568182 · VCV1282045
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 23.8%, 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 1.6 | GERP -0.28, phastCons 1 |
| Overall | ||
| CADD | 6.622 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
23.8%
African / African-American · 17,831/74,906 alleles
Filtering AF
23.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 23.4%
Overall
6.15%
99,167/1,613,454 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 23.8% | 4 |
| South Asian | 9.82% | 10 |
| Middle Eastern | 9.56% | 10 |
| Ashkenazi Jewishnot grpmax-eligible | 8.65% | 12 |
| Finnishnot grpmax-eligible | 7.43% | 13 |
| Remaining individualsnot grpmax-eligible | 6.87% | 15 |
| Admixed American | 4.93% | 20 |
| European (non-Finnish) | 4.71% | 21 |
| Amishnot grpmax-eligible | 4.06% | 25 |
| East Asian | 3.78% | 26 |
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
- DLC1
- Protein
- p.Arg1182=
- Coding
- c.3546C>A
- MANE Select
- NM_003746 · reported on NM_182643
- dbSNP
- rs568182
- Type
- single nucleotide variant
- Location
- chr8:13092806 (GRCh38)
- Structure
- AlphaFold pLDDT 95.45 · 22 PDB
Similar variants
- DLC1 p.Arg1182Cys Uncertain significance ★★ ⚠ same residue
- DLC1 p.Arg1182His Uncertain significance ★★ ⚠ same residue
- DLC1 c.2991-5C>A Uncertain significance ★★ same type
- DLC1 p.Ala1268Val Uncertain significance ★★ ⚠ same type
- DLC1 p.Ala1278Thr Uncertain significance ★★ ⚠ same type
- DLC1 p.Ala167Pro Uncertain significance ★★ ⚠ same type
- DLC1 p.Ala350Val Uncertain significance ★★ ⚠ same type
- DLC1 p.Ala752Gly 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/dlc1-p-arg1182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown