ERMARD p.Phe282=
c.846C>T · rs138733309 · VCV787844
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.327%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.50 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.34 | loss · gain 0.00 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 0.27 | GERP 4.3, phastCons 0.011 |
| Overall | ||
| CADD | 1.268 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.327%
African / African-American · 245/74,970 alleles
Filtering AF
0.293%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.28%
Overall
0.0164%
265/1,611,898 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.327% | 306 |
| Middle Eastern | 0.033% | 3,029 |
| Remaining individualsnot grpmax-eligible | 0.016% | 6,244 |
| Admixed American | 0.00834% | 11,997 |
| European (non-Finnish) | 0.000255% | 392,699 |
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.Phe282=
- Coding
- c.846C>T
- MANE Select
- NM_018341
- dbSNP
- rs138733309
- Type
- single nucleotide variant
- Location
- chr6:169760745 (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-phe282 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown