ERMARD p.Glu598=
c.1794G>A · rs147781275 · VCV2151136
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.044%, 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 -0.042 | GERP -4.5 |
| Overall | ||
| CADD | 0.276 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.044%
African / African-American · 33/75,052 alleles
Filtering AF
0.0321%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0281%
Overall
0.00242%
39/1,614,244 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.044% | 2,274 |
| Admixed American | 0.00666% | 15,006 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,510 |
| European (non-Finnish) | 8.47e-05% | 1,180,048 |
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
- ERMARD
- Protein
- p.Glu598=
- Coding
- c.1794G>A
- MANE Select
- NM_018341
- dbSNP
- rs147781275
- Type
- single nucleotide variant
- Location
- chr6:169779236 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.79
Similar variants
- ERMARD p.Ala474Val Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg367His Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg400Ser Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg537Gln Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg544Cys Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg569Cys Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg571Gln Uncertain significance ★★ ⚠ same type
- ERMARD p.Arg571Trp 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/ermard-p-glu598 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown