MYO7A c.6237+234del
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 11.1%, 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 | ||
| Splice region | donor +234 | deep intronic (+234 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.12 | GERP 0.39 |
| Non-coding constraint | Z 3.59 | 1 kb window · o/e 0.77 · regional · uncalibrated |
| Overall | ||
| CADD | 8.231 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
11.1%
African / African-American · 4,588/41,488 alleles
Filtering AF
10.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 10.7%
Overall
3.18%
4,839/152,204 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 11.1% | 9 |
| Remaining individualsnot grpmax-eligible | 2.08% | 48 |
| Ashkenazi Jewishnot grpmax-eligible | 1.04% | 96 |
| Admixed American | 0.895% | 112 |
| Middle Eastern | 0.68% | 147 |
| European (non-Finnish) | 0.0456% | 2,194 |
| South Asian | 0.0207% | 4,824 |
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
- MYO7A
- Coding
- c.6237+234del
- MANE Select
- NM_000260
- dbSNP
- rs10711382
- Type
- Deletion
- Location
- chr11:77211570 (GRCh38)
- Gene constraint
- LOEUF 0.995 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.73 · 1 PDB
Similar variants
- MYO7A c.3503+12_3503+33del Benign ★★★ same type
- MYO7A c.2187+2_2187+8del Pathogenic/Likely pathogenic ★★ same type
- MYO7A c.2283-2_2293del Pathogenic/Likely pathogenic ★★ same type
- MYO7A c.5471_5480+5del Pathogenic/Likely pathogenic ★★ same type
- MYO7A p.Ala1277fs Pathogenic/Likely pathogenic ★★ same type
- MYO7A p.Ala2009fs Pathogenic ★★ same type
- MYO7A p.Ala202fs Pathogenic/Likely pathogenic ★★ same type
- MYO7A p.Ala353_Thr354insTer Pathogenic/Likely pathogenic ★★ 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/myo7a-c-6237-plus-234del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown