rs757326350
A SNP in the PLCZ1 gene on chromosome 12. Its most notable genotype is A;A: Male infertility (reported)
- Gene
- PLCZ1
- Location
- Chr 1218,688,215 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadMale infertility (reported)
- A;TBadCarrier of a male infertility variant
- T;TGoodcommon in clinvar
On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 120 words
rs757326350, also known as c.1465A>T, p.Ile489Phe and I489F, represents a very rare mutation in the PLCZ1 gene on chromosome 12. When inherited recessively, the rs757326350(A) allele (in dbSNP, not cDNA, orientation) is reported to lead to male infertility, designated in ClinVar and OMIM as spermatogenic failure, type 17. Functional studies of the effect of the protein encoded by this mutation support it's inability to trigger fertilization. Note: another variant, c.1465A>C, has been observed for this SNP. However, to date it is unclear if the (C) allele is linked to infertility.
A;A
Reported to lead to male infertility; see discussion at rs757326350.
A;T
Unaffected in absence of another PLCZ1 gene mutation; see discussion at rs757326350.
Source and license
Adapted from rs757326350 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.