MYO7B p.Val1876=
c.5628C>T · rs61738660 · VCV783341
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.75%, 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 0.26 | GERP -3.2, phastCons 0.98 |
| Overall | ||
| CADD | 9.252 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.75%
African / African-American · 2,810/74,988 alleles
Filtering AF
3.63%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.58%
Overall
0.19%
3,064/1,611,200 alleles · low-frequency
exomes 1,469/1,458,874 · genomes 1,595/152,326 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.75% | 27 |
| Admixed American | 0.184% | 542 |
| Remaining individualsnot grpmax-eligible | 0.173% | 578 |
| Middle Eastern | 0.066% | 1,515 |
| South Asian | 0.00996% | 10,045 |
| European (non-Finnish) | 0.00195% | 51,248 |
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.Val1876=
- Coding
- c.5628C>T
- MANE Select
- NM_001393586
- dbSNP
- rs61738660
- Type
- single nucleotide variant
- Location
- chr2:127634598 (GRCh38)
- Gene constraint
- LOEUF 0.956 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.34 · 3 PDB
- Residue 1876
- the myth4 3 domain; the ferm 2 domain; the 'mediates interaction with cdhr2, cdhr5 and ush1c' region
Similar variants
- MYO7B p.Thr349Met Uncertain significance ★★ ⚠ same type
- MYO7B p.Ile1309Val Benign ★★ same type
- MYO7B p.Val1556Ile 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
- MYO7B p.Ala1154Val 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-val1876 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown