ArticleJournal of assisted reproduction and genetics2026
STAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in Russian patients with early-onset premature ovarian insufficiency.
Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeTo describe a cohort of Russian patients with early-onset premature ovarian insufficiency carrying the recurrent STAG3 c.2776C > T, p.Arg926Ter variant, and to study its frequency in the Russian population in comparison with gnomAD.
methodsCase series description: six patients from five unrelated families of the Russian population. All probands manifested with early-onset POI and carried STAG3 c.2776C > T, p.Arg926Ter variant either in the homozygous state or in compound with another pathogenic or likely pathogenic STAG3 variant. Allele frequency analysis with the use of gnomAD and an in-house reference database and the review of literature.
resultsAll patients manifested with early-onset POI. Five of six patients presented with primary amenorrhea, one had secondary amenorrhea. Four of six patients carried the c.2776C > T, p.Arg926Ter variant in homozygous state, one carried it in compound with c.3550G > T, p.Glu1184Ter, and another in compound with c.1078C > T, p.Arg360Cys. In gnomAD v.4.0, the frequency of c.2776C > T, p.Arg926Ter was 0.000065 (no homozygotes), in our in-house database its frequency was 0.001184 which is 18-fold higher. In general, four STAG3 loss-of-function variants with statistically higher frequency in the Russian population compared with gnomAD were identified.
conclusionSTAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in early-onset POI and is enriched in the Russian population.
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