USH2A p.Asp2436His
c.7306G>C · VCV3813973
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.6185 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.6185 | likely pathogenic |
|---|---|---|
| REVEL | 0.372 | indeterminate |
| SaProt | — | not scored · why |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.7, phastCons 1 |
| Regional constraint | o/e 1.05 | unconstrained · MANE · 797 kb · p 0.00011 · regional, not allelic |
| Overall | ||
| CADD | 24.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- USH2A
- Protein
- p.Asp2436His
- Coding
- c.7306G>C
- MANE Select
- NM_206933
- Type
- single nucleotide variant
- Location
- chr1:215900900 (GRCh38)
- Gene constraint
- LOEUF 0.855 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- USH2A p.Asp2436fs Pathogenic/Likely pathogenic ★★ same residue
- USH2A p.Gln4900Ter Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Ala1617Val Uncertain significance ★★ same condition
- USH2A p.Ala1877Glu Uncertain significance ★★ same condition
- USH2A p.Ala1952Val Uncertain significance ★★ ⚠ same condition
- USH2A p.Ala2111Glu Uncertain significance ★★ ⚠ same condition
- USH2A p.Ala2234Val Uncertain significance ★★ ⚠ same condition
- USH2A p.Ala2246Asp 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/ush2a-p-asp2436his (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown