SUN5
Sad1 and UNC84 domain containing 5
Summary
The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs928843192 | 20:31,571,634 | T/G | — | uncertain significance |
| rs200348907 | 20:31,571,665 | C/G | — | uncertain significance |
| rs572445773 | 20:31,571,672 | G/A | — | likely benign |
| rs754130052 | 20:31,571,674 | G/A | missense variant | pathogenic |
| rs199593580 | 20:31,572,897 | G/A | — | uncertain significance |
| rs886041025 | 20:31,573,588 | G/C | stop gained | pathogenic |
| rs2515950329 | 20:31,573,595 | T/A | — | uncertain significance |
| rs756459525 | 20:31,573,615 | G/A | missense variant | pathogenic |
| rs886041024 | 20:31,573,658 | C/T | missense variant | pathogenic |
| rs562319793 | 20:31,573,966 | C/T | — | — |
| rs918364461 | 20:31,575,521 | T/C | — | uncertain significance |
| rs757373537 | 20:31,575,577 | G/A | — | uncertain significance |
| rs2515957418 | 20:31,577,487 | T/G | — | uncertain significance |
| rs760765349 | 20:31,577,496 | C/A | — | uncertain significance |
| rs886041023 | 20:31,583,474 | A/T | missense variant | pathogenic |
| rs200977155 | 20:31,584,136 | C/T | — | uncertain significance |
| rs759077361 | 20:31,585,456 | C/G | — | uncertain significance |
| rs145325433 | 20:31,585,457 | A/G | — | uncertain significance |
| rs1989889325 | 20:31,585,478 | G/C | — | uncertain significance |
| rs1189954636 | 20:31,587,882 | A/G | — | uncertain significance |
| rs769922427 | 20:31,589,024 | G/A | — | uncertain significance |
| rs775572724 | 20:31,589,045 | G/A | — | uncertain significance |
| rs372936971 | 20:31,589,094 | A/G | — | likely benign |
| rs747822378 | 20:31,590,402 | C/T | — | uncertain significance |
| rs149962354 | 20:31,590,708 | C/T | — | uncertain significance |
| rs749321471 | 20:31,590,714 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.