rs7652331

This is a 3 prime utr variant variant in the FYCO1 gene.

ClinVar annotation

Benign☆☆☆
2 submitters1 publication

Cataract 18 (CATC2)

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Research that mentions this SNP (2)

Common variants at 8q24 are associated with prostate cancer risk in Taiwanese men
ReviewMarcelo Chen et al.(2010)· The Prostate

Systematic literature review of 22 GWAS studies identifying 53 SNPs in 29 genomic loci associated with aggressive and progressive prostate cancer, particularly in low-grade disease. Functional analysis of 21 SNPs revealed involvement in the MYC/POU5F1B pathway (rs1447295, rs6983267, rs4242382), androgen receptor pathway (rs17021918, rs10486567, rs7679673, rs2939244), and PSA/KLK3 biomarkers (rs2735839, rs10993994). SNPs were integrated with somatic copy number aberration data, with 17 SNPs found in regions of recurrent CNAs predictive of progression; notably, rs1447295 and 7 other SNPs cluster in 8q24 gain regions harboring MYC.

Traits studied:Aggressive prostate cancerBiochemical recurrenceGleason score upgradeLow-grade prostate cancerMetastatic prostate cancerProstate cancerProstate cancer progression
Association of genetic polymorphisms at 8q24 with the risk of prostate cancer in a Japanese population
ReviewNaoki Terada et al.(2008)· The Prostate

This systematic review identified 53 unique SNPs in 29 genomic loci associated with aggressive prostate cancer progression and poor outcomes from GWAS studies. Functional studies implicated 21 SNPs as modulating the androgen receptor pathway, MYC oncogene, and PSA-related genes, with rs1447295 and rs10993994 being replicated across multiple populations and associated with unfavorable pathological features in low-grade prostate cancer.

Traits studied:Biochemical recurrenceGleason score upgradeMetastasisPSA recurrenceProstate cancer aggressivenessProstate cancer progression

About FYCO1

The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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