TRIM37 c.*759T>C
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.03%, afr)
Conditions
1
mulibrey nanism
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 2.7 | GERP -2.8, phastCons 1 |
| Non-coding constraint | Z -0.84 | 1 kb window · o/e 1.06 · regional · uncalibrated |
| Overall | ||
| CADD | 6.114 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.03%
African / African-American · 593/57,374 alleles
Filtering AF
0.965%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.937%
Overall
0.0672%
662/985,444 alleles · low-frequency
exomes 190/833,090 · genomes 472/152,354 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.03% | 97 |
| Admixed American | 0.227% | 440 |
| Remaining individualsnot grpmax-eligible | 0.0646% | 1,548 |
| Middle Eastern | 0.0522% | 1,914 |
| European (non-Finnish) | 0.00145% | 69,160 |
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
- TRIM37
- Coding
- c.*759T>C
- MANE Select
- NM_015294
- dbSNP
- rs191702204
- Type
- single nucleotide variant
- Location
- chr17:58998618 (GRCh38)
- Gene constraint
- LOEUF 0.789 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.93 · 1 PDB
Similar variants
- TRIM37 c.1020-1G>C Likely pathogenic ★★ same condition
- TRIM37 c.1948+2T>C Likely pathogenic ★★ same condition
- TRIM37 c.1949-12A>G Likely pathogenic ★★ same condition
- TRIM37 c.370-1G>A Pathogenic/Likely pathogenic ★★ same condition
- TRIM37 c.493-2A>G Pathogenic ★★ same condition
- TRIM37 p.Arg14Ter Likely pathogenic ★★ same condition
- TRIM37 p.Arg361Ter Pathogenic/Likely pathogenic ★★ same condition
- TRIM37 p.Arg471Ter Pathogenic/Likely pathogenic ★★ same condition
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/trim37-c-star-759t-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown