rs2091450305
- Pathogenic
Your Genotype
Sign InDescription
The PKD1 p.Gln4060X variant was not identified in the literature nor was it identified in dbSNP, 1000 Genomes Project, NHLBI GO Exome Sequencing Project , the Exome Aggregation Consortium database (August 8, 2016) Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD, and PKD1-LOVD 3.0. The p.Gln4060X variant leads to a premature stop codon at position 4060, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PKD1 gene are an established mechanism of disease in autosomal dominant polycystic kidney disease and is the type of variant expected to cause the disorder. It is important to note that many frameshift variants have been reported downstream of this variant in the PKD mutation database and elsewhere. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Reference Allele
G
Alternative Allele
A
Chromosome
16
Location
2090551
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter)
Allele
A
Clinical Significance
Pathogenic