rs2091413514
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
PM2, PP3, PP4
The PKD1 c.12465T>G; p.Phe4155Leu variant is reported in the literature in individuals affected with autosomal dominant polycystic kidney disease (ADPKD) (Hwang 2016). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The phenylalanine at codon 4155 is highly conserved, and] computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, another variant at this codon (c.12463T>G; p.Phe4155Val) has been reported in individuals with ADPKD (Tan 2009). However, given the lack of clinical and functional data, the significance of the p.Phe4155Leu variant is uncertain at this time. References: Hwang YH et al. Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016 Jun;27(6):1861-8. Tan YC et al. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. Hum Mutat. 2009 Feb;30(2):264-73.
Reference Allele
A
Alternative Allele
C
Chromosome
16
Location
2090174
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu)
Allele
C
Clinical Significance
Conflicting interpretations of pathogenicity