ERMARD p.Pro273=
c.819A>G · rs149907871 · VCV384837
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.59%, afr)
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 -7.4 | GERP 1.9 |
| Overall | ||
| CADD | 0.332 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.59%
African / African-American · 1,196/75,048 alleles
Filtering AF
1.52%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.49%
Overall
0.0832%
1,343/1,613,988 alleles · low-frequency
exomes 690/1,461,662 · genomes 653/152,326 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.59% | 63 |
| Remaining individualsnot grpmax-eligible | 0.122% | 822 |
| Admixed American | 0.075% | 1,333 |
| Middle Eastern | 0.033% | 3,030 |
| South Asian | 0.00659% | 15,175 |
| European (non-Finnish) | 0.00153% | 65,550 |
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.Pro273=
- Coding
- c.819A>G
- MANE Select
- NM_018341
- dbSNP
- rs149907871
- Type
- single nucleotide variant
- Location
- chr6:169760718 (GRCh38)
- Gene constraint
- LOEUF 0.996 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.79
Similar variants
- ERMARD p.Pro273Leu Uncertain significance ★ ⚠ same residue
- 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
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-pro273 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown