MYO7B p.Tyr1912=
c.5736C>T · rs140035193 · VCV2651340
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.884%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.37 | GERP 1.7, phastCons 0.99 |
| Overall | ||
| CADD | 3.732 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.884%
African / African-American · 663/75,026 alleles
Filtering AF
0.828%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.806%
Overall
0.0442%
713/1,613,288 alleles · rare
exomes 336/1,461,014 · genomes 377/152,274 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.884% | 113 |
| Middle Eastern | 0.0495% | 2,019 |
| Remaining individualsnot grpmax-eligible | 0.0416% | 2,402 |
| Admixed American | 0.0267% | 3,747 |
| South Asian | 0.0011% | 90,984 |
| European (non-Finnish) | 0.000339% | 294,923 |
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
- MYO7B
- Protein
- p.Tyr1912=
- Coding
- c.5736C>T
- MANE Select
- NM_001393586
- dbSNP
- rs140035193
- Type
- single nucleotide variant
- Location
- chr2:127635142 (GRCh38)
- Gene constraint
- LOEUF 0.956 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.34 · 3 PDB
- Residue 1912
- the ferm 2 domain; the 'mediates interaction with cdhr2, cdhr5 and ush1c' region; an α-helix
Similar variants
- MYO7B p.Thr349Met Uncertain significance ★★ ⚠ same type
- MYO7B p.Ile1309Val Benign ★★ same type
- MYO7B p.Val1556Ile Benign ★★ same type
- MYO7B p.Val1876= Benign ★★ same type
- MYO7B p.Ala1010Thr Uncertain significance ★ ⚠ same type
- MYO7B p.Ala1092Thr Uncertain significance ★ ⚠ same type
- MYO7B p.Ala1109Thr Uncertain significance ★ ⚠ same type
- MYO7B p.Ala1126Thr 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/myo7b-p-tyr1912 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown