MYO7B p.Pro517=
c.1551G>A · rs61743462 · VCV3060919
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 3.82%, afr)
Conditions
1
MYO7B-related disorder
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 -2.7 | GERP -4.1 |
| Overall | ||
| CADD | 6.884 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.82%
African / African-American · 2,865/75,028 alleles
Filtering AF
3.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.65%
Overall
0.202%
3,258/1,613,766 alleles · low-frequency
exomes 1,589/1,461,510 · genomes 1,669/152,256 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.82% | 26 |
| Admixed American | 0.26% | 385 |
| Remaining individualsnot grpmax-eligible | 0.243% | 411 |
| Middle Eastern | 0.181% | 551 |
| South Asian | 0.0121% | 8,280 |
| European (non-Finnish) | 0.00517% | 19,341 |
| East Asian | 0.00223% | 44,874 |
| Finnishnot grpmax-eligible | 0.00157% | 63,882 |
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.Pro517=
- Coding
- c.1551G>A
- MANE Select
- NM_001393586
- dbSNP
- rs61743462
- Type
- single nucleotide variant
- Location
- chr2:127584329 (GRCh38)
- Gene constraint
- LOEUF 0.956 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.34 · 3 PDB
- Residue 517
- the myosin motor domain
Disease context
MYO7B-related disorder
Similar variants
- MYO7B p.Ala397Ser Uncertain significance ⚠ same condition
- MYO7B c.1081-10G>T Benign same condition
- MYO7B c.1691-7T>C Benign same condition
- MYO7B c.2339+4C>T Benign same condition
- MYO7B c.4333+8C>A Likely benign same condition
- MYO7B c.5714-7C>T Benign same condition
- MYO7B c.5821-8T>C Benign same condition
- MYO7B c.6123+9T>C 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/myo7b-p-pro517 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown