OFD1 p.Lys877=
c.2631G>A · rs797045848 · VCV211789
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
primary ciliary dyskinesia
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 0.13 | GERP -3.4 |
| Overall | ||
| CADD | 0.589 | PHRED · no single calibrated threshold — expert panels disagree |
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
- OFD1
- Protein
- p.Lys877=
- Coding
- c.2631G>A
- MANE Select
- NM_003611
- dbSNP
- rs797045848
- Type
- single nucleotide variant
- Location
- chrX:13767158 (GRCh38)
- Structure
- AlphaFold pLDDT 68.41
- Residue 877
- the 'mediates the interaction with sdccag8' region; the 'disordered' region
Disease context
primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary ciliary dyskinesia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Neonatal
- Prevalence
- 1-5 / 10 000 (Pakistan)
Similar variants
- OFD1 p.Arg909Ter Pathogenic/Likely pathogenic ★★ same condition
- OFD1 p.Ala213Gly Uncertain significance ★★ ⚠ same condition
- OFD1 p.Ala506Gly Uncertain significance ★★ ⚠ same condition
- OFD1 p.Ala856Val Uncertain significance ★★ ⚠ same condition
- OFD1 p.Arg263Trp Uncertain significance ★★ ⚠ same condition
- OFD1 p.Arg467Ser Uncertain significance ★★ ⚠ same condition
- OFD1 p.Arg487Trp Uncertain significance ★★ ⚠ same condition
- OFD1 p.Asn118Thr 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/ofd1-p-lys877 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown