DCTN1 p.Ala848=
c.2544T>C · rs1371265373 · VCV468266
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.005%, amr)
Conditions
4
Inborn genetic diseases
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 -6 | GERP -4.5 |
| Overall | ||
| CADD | 0.875 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.005%
Admixed American · 3/60,012 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000668%
Overall
0.000867%
14/1,613,894 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.005% | 20,004 |
| European (non-Finnish) | 0.000932% | 107,270 |
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
- DCTN1
- Protein
- p.Ala848=
- Coding
- c.2544T>C
- MANE Select
- NM_004082
- dbSNP
- rs1371265373
- Type
- single nucleotide variant
- Location
- chr2:74366543 (GRCh38)
- Gene constraint
- LOEUF 0.448 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 77.43 · 13 PDB
Similar variants
- DCTN1 c.279+1G>T Pathogenic/Likely pathogenic ★★ same condition
- DCTN1 p.Gln93His Pathogenic/Likely pathogenic ★★ same condition
- DCTN1 p.Gly71Glu Pathogenic ★★ same condition
- DCTN1 p.Tyr78His Likely pathogenic ★★ same condition
- DCTN1 c.1128-3C>G Uncertain significance ★★ same condition
- DCTN1 c.1288-10C>G Uncertain significance ★★ same condition
- DCTN1 c.2185-3C>T Uncertain significance ★★ same condition
- DCTN1 c.33+3A>G Uncertain significance ★★ same condition
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/dctn1-p-ala848 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown