DYNC2LI1 p.Pro78=
c.234A>T · rs1271820940 · VCV3004349
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.015%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.073 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 0.19 | GERP -4.8, phastCons 0.41 |
| Overall | ||
| CADD | 5.576 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.015%
Admixed American · 9/59,846 alleles
Filtering AF
0.00775%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0058%
Overall
0.000558%
9/1,613,390 alleles · ultra-rare
exomes 9/1,461,040 · genomes 0/152,350 · joint denominator
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
- DYNC2LI1
- Protein
- p.Pro78=
- Coding
- c.234A>T
- MANE Select
- NM_016008
- dbSNP
- rs1271820940
- Type
- single nucleotide variant
- Location
- chr2:43789635 (GRCh38)
- Gene constraint
- LOEUF 1.028 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.49 · 3 PDB
Similar variants
- DYNC2LI1 p.Leu117Val Pathogenic/Likely pathogenic ★★ ⚠ same type
- DYNC2LI1 p.Trp124Ter Pathogenic/Likely pathogenic ★★ same type
- ABCG5 p.Ala505Asp Uncertain significance ★★ ⚠ same type
- ABCG5 p.Gly288Ser Uncertain significance ★★ ⚠ same type
- ABCG5 p.Ser361Cys Uncertain significance ★★ ⚠ same type
- ABCG5 p.Val420Gly Uncertain significance ★★ ⚠ same type
- DYNC2LI1 p.Cys203Tyr Uncertain significance ★★ same type
- DYNC2LI1 p.Glu23Lys 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/dync2li1-p-pro78 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown