MYRF p.Gln397=
c.1191G>A · VCV4911842
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.507%, sas)
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 6.7 | GERP -3.8, phastCons 1 |
| Overall | ||
| CADD | 19.13 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.507%
South Asian · 462/91,086 alleles
Filtering AF
0.469%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.454%
Overall
0.031%
500/1,613,828 alleles · rare
exomes 470/1,461,534 · genomes 30/152,294 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.507% | 197 |
| Middle Eastern | 0.0495% | 2,020 |
| Remaining individualsnot grpmax-eligible | 0.0464% | 2,155 |
| East Asian | 0.00669% | 14,956 |
| Admixed American | 0.00167% | 60,022 |
| European (non-Finnish) | 0.000169% | 589,991 |
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
- MYRF
- Protein
- p.Gln397=
- Coding
- c.1191G>A
- MANE Select
- NM_001127392
- Type
- single nucleotide variant
- Location
- chr11:61774042 (GRCh38)
- Gene constraint
- LOEUF 0.215 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.76 · 2 PDB
- Residue 397
- a β-strand; a DNA-binding region
Similar variants
- MYRF p.Gln397Ter Likely pathogenic ★ same residue
- MYRF p.Gln150Ter Pathogenic/Likely pathogenic ★★ same type
- MYRF p.Trp939Ter Pathogenic ★★ same type
- MYRF p.Ala1001Ser Uncertain significance ★★ ⚠ same type
- MYRF p.Arg174Cys Uncertain significance ★★ ⚠ same type
- MYRF p.Arg733Gln Uncertain significance ★★ ⚠ same type
- MYRF p.Asn267Ser Uncertain significance ★★ ⚠ same type
- MYRF p.Glu421Lys 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/myrf-p-gln397 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown