PRMT7 p.Pro635=
c.1905C>T · rs61733486 · VCV1327451
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 10.8%, mid) — too common for a highly-penetrant pathogenic allele
Conditions
1
short stature-brachydactyly-obesity-global developmental delay syndrome
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 0.088 | GERP -1.6, phastCons 0.015 |
| Overall | ||
| CADD | 7.319 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
10.8%
Middle Eastern · 483/4,464 alleles
Filtering AF
10%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.71%
Overall
5.76%
92,434/1,605,786 alleles · common
exomes 83,206/1,453,490 · genomes 9,228/152,296 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 10.8% | 9 |
| Amishnot grpmax-eligible | 8.11% | 12 |
| Ashkenazi Jewishnot grpmax-eligible | 7.84% | 13 |
| African / African-American | 7.62% | 13 |
| Remaining individualsnot grpmax-eligible | 6.02% | 17 |
| South Asian | 5.92% | 17 |
| European (non-Finnish) | 5.87% | 17 |
| Finnishnot grpmax-eligible | 5.21% | 19 |
| Admixed American | 4.08% | 25 |
| East Asian | 0.0202% | 4,956 |
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
- PRMT7
- Protein
- p.Pro635=
- Coding
- c.1905C>T
- MANE Select
- NM_019023
- dbSNP
- rs61733486
- Type
- single nucleotide variant
- Location
- chr16:68356794 (GRCh38)
- Gene constraint
- LOEUF 1.01 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 93.19
- Residue 635
- the sam-dependent mtase prmt-type 2 domain
Similar variants
- PRMT7 c.1056-1G>T Pathogenic/Likely pathogenic ★★ same condition
- PRMT7 p.Arg274Ter Pathogenic/Likely pathogenic ★★ same condition
- PRMT7 p.Arg390Ter Pathogenic ★★ same condition
- PRMT7 p.Cys571Ter Pathogenic ★★ same condition
- PRMT7 p.Gln323Ter Pathogenic ★★ same condition
- PRMT7 p.Glu108Ter Pathogenic/Likely pathogenic ★★ same condition
- PRMT7 p.Tyr159Ter Pathogenic ★★ same condition
- PRMT7 p.Arg360Cys Uncertain significance ★★ ⚠ 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/prmt7-p-pro635 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown