DISC1 p.Val849=
c.2547C>T · rs1338509413 · VCV732583
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00938%, afr)
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 0.85 | GERP -1.1 |
| Overall | ||
| CADD | 2.174 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00938%
African / African-American · 7/74,646 alleles
Filtering AF
0.00439%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0031%
Overall
0.000439%
7/1,594,816 alleles · very rare
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
- DISC1
- Protein
- p.Val849=
- Coding
- c.2547C>T
- MANE Select
- NM_018662
- dbSNP
- rs1338509413
- Type
- single nucleotide variant
- Location
- chr1:232036813 (GRCh38)
- Gene constraint
- LOEUF 0.893 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.74 · 1 PDB
- Residue 849
- the 'interaction with pafah1b1' region; the 'necessary and sufficient for interaction with pcnt and localization at the centrosome' region; the 'interaction with atf4 and atf5' region
Similar variants
- DISC1 p.Cys187Tyr Uncertain significance ★★ ⚠ same type
- DISC1 p.Arg170Cys Benign ★★ same type
- DISC1 p.Arg345Gln Benign ★★ same type
- DISC1 p.Glu751Gln Benign ★★ same type
- DISC1 p.Leu330Phe Benign ★★ ⚠ same type
- DISC1 p.Pro432Leu Likely benign ★★ same type
- DISC1 p.Ala13Thr Uncertain significance ★ ⚠ same type
- DISC1 p.Ala220Val 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/disc1-p-val849 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown