DNAH7 p.Val2635=
c.7905A>G · rs10195652 · VCV789712
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 9.42%, afr) — too common for a highly-penetrant pathogenic allele
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 -2.9 | GERP -4.2 |
| Overall | ||
| CADD | 0.542 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
9.42%
African / African-American · 7,068/75,010 alleles
Filtering AF
9.24%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.16%
Overall
0.534%
8,615/1,614,074 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 9.42% | 11 |
| Ashkenazi Jewishnot grpmax-eligible | 0.949% | 105 |
| Remaining individualsnot grpmax-eligible | 0.726% | 138 |
| Admixed American | 0.65% | 154 |
| Middle Eastern | 0.561% | 178 |
| European (non-Finnish) | 0.0308% | 3,242 |
| South Asian | 0.0253% | 3,960 |
| East Asian | 0.00223% | 44,886 |
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
- DNAH7
- Protein
- p.Val2635=
- Coding
- c.7905A>G
- MANE Select
- NM_018897
- dbSNP
- rs10195652
- Type
- single nucleotide variant
- Location
- chr2:195858636 (GRCh38)
- Gene constraint
- LOEUF 0.961 · pLI <0.01 (gnomAD)
- Residue 2635
- the 'stalk' region
Similar variants
- DNAH7 p.Arg1884Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Arg3272Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asn2116Ser Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1219Gly Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1787Gly Uncertain significance ★★ same type
- DNAH7 p.Asp2867Tyr Uncertain significance ★★ ⚠ same type
- DNAH7 p.Ile1203Met Uncertain significance ★★ ⚠ same type
- DNAH7 p.Leu1715Met 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/dnah7-p-val2635 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown