DNAH10 p.Phe2218=
c.6654C>T · rs142142817 · VCV730712
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.711%, 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 -1.9 | GERP -4.1 |
| Overall | ||
| CADD | 8.788 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.711%
African / African-American · 533/74,974 alleles
Filtering AF
0.661%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.641%
Overall
0.039%
629/1,610,892 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.711% | 141 |
| Admixed American | 0.0673% | 1,487 |
| Remaining individualsnot grpmax-eligible | 0.0561% | 1,781 |
| Middle Eastern | 0.0165% | 6,056 |
| South Asian | 0.00222% | 45,051 |
| European (non-Finnish) | 0.00153% | 65,492 |
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
- DNAH10
- Protein
- p.Phe2218=
- Coding
- c.6654C>T
- MANE Select
- NM_001372106
- dbSNP
- rs142142817
- Type
- single nucleotide variant
- Location
- chr12:123859173 (GRCh38)
- Gene constraint
- LOEUF 0.763 · pLI <0.01 (gnomAD)
- Residue 2218
- the 'aaa 2' region
Similar variants
- DNAH10 p.Ala2444Val Uncertain significance ★★ ⚠ same type
- DNAH10 p.Arg2111Trp Uncertain significance ★★ ⚠ same type
- DNAH10 p.Arg2957Gln Uncertain significance ★★ same type
- DNAH10 p.Arg3955His Uncertain significance ★★ ⚠ same type
- DNAH10 p.Asp3319Gly Uncertain significance ★★ ⚠ same type
- DNAH10 p.Glu4042Gln Uncertain significance ★★ ⚠ same type
- DNAH10 p.Gly4445Glu Uncertain significance ★★ same type
- DNAH10 p.Ile4202Thr 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/dnah10-p-phe2218 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown