TRIM37 p.Ser712=
c.2136C>T · rs768860943 · VCV559042
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.148%, mid)
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 0.35 | GERP -4.3, phastCons 0.006 |
| Overall | ||
| CADD | 9.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.148%
Middle Eastern · 9/6,084 alleles
Filtering AF
0.0772%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0576%
Overall
0.00768%
124/1,614,100 alleles · rare
exomes 114/1,461,870 · genomes 10/152,230 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.148% | 676 |
| African / African-American | 0.0187% | 5,353 |
| Remaining individualsnot grpmax-eligible | 0.0176% | 5,681 |
| Admixed American | 0.0133% | 7,501 |
| European (non-Finnish) | 0.00653% | 15,325 |
| South Asian | 0.00549% | 18,219 |
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
- Protein
- p.Ser712=
- Coding
- c.2136C>T
- MANE Select
- NM_015294
- dbSNP
- rs768860943
- Type
- single nucleotide variant
- Location
- chr17:59028536 (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 type
- TRIM37 c.1948+2T>C Likely pathogenic ★★ same type
- TRIM37 c.1949-12A>G Likely pathogenic ★★ same type
- TRIM37 c.370-1G>A Pathogenic/Likely pathogenic ★★ same type
- TRIM37 c.493-2A>G Pathogenic ★★ same type
- TRIM37 c.617-1G>A Likely pathogenic ★★ same type
- TRIM37 p.Arg14Ter Likely pathogenic ★★ same type
- TRIM37 p.Arg361Ter Pathogenic/Likely pathogenic ★★ 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/trim37-p-ser712 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown