RBMY1F
Chr YRNA binding motif protein Y-linked family 1 member F
Also known as: YRRM2
The protein is an RNA-binding protein that participates in pre-mRNA splicing during spermatogenesis and is required for sperm development. Mutations cause male infertility due to azoospermia, with inheritance following a Y-linked pattern since the gene is located on the Y chromosome. The gene has multiple functional copies in the AZFb region and shows relatively low constraint to loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
99 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 72 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 13 |
Likely Benign | — | — | — | — | 8 |
Benign | — | — | — | — | 3 |
| Total | — | 99 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RBMY1F · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools