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SYCP3

Synonyms
COR1, RPRGL4, SCP3, SPGF4
External resources
Summary
This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,907
Likely benign
902
Benign
1,923

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SYCP3 gene.

Phenotype class
Patients in 3billion (%)

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