DNAH2 p.Phe2953Ser
c.8858T>C · VCV4013008
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4696 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4696 | ambiguous |
|---|---|---|
| REVEL | 0.506 | indeterminate |
| SaProt | — | not scored · why |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.4, phastCons 1 |
| Regional constraint | o/e 0.87 | unconstrained · MANE · 35 kb · p 4.5e-10 · regional, not allelic |
| Overall | ||
| CADD | 26.7 | 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
- DNAH2
- Protein
- p.Phe2953Ser
- Coding
- c.8858T>C
- MANE Select
- NM_020877
- Type
- single nucleotide variant
- Location
- chr17:7801903 (GRCh38)
- Gene constraint
- LOEUF 0.655 · pLI <0.01 (gnomAD)
- Residue 2953
- the 'aaa 4' region
Similar variants
- DNAH2 p.Ala1036Val Uncertain significance ★★ ⚠ same condition
- DNAH2 p.Arg1533Cys Uncertain significance ★★ ⚠ same condition
- DNAH2 p.Arg2538Gln Uncertain significance ★★ same condition
- DNAH2 p.Arg3759His Uncertain significance ★★ ⚠ same condition
- DNAH2 p.Gln2069Glu Uncertain significance ★★ same condition
- DNAH2 p.Ile4043Ser Uncertain significance ★★ ⚠ same condition
- DNAH2 p.Pro3819Leu Uncertain significance ★★ ⚠ same condition
- DNAH2 p.Ala1058Thr Benign/Likely benign ★★ 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/dnah2-p-phe2953ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown