rs1804177

Description

The PKD1 p.Ala4044= variant was not identified in the literature nor was it identified in the ClinVar, LOVD 3.0, ADPKD Mutation Database, and PKD1-LOVD databases. The variant was identified in dbSNP (ID: rs1804177) as “NA”. The variant was identified in control databases in 1 of 242430 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017), observed in the following populations: African in 1 of 14994 chromosomes (freq: 0.00007), while not observed in the Other, Latino, European Non-Finnish, Ashkenazi Jewish, East Asian, European Finnish, and South Asian populations. The p.Ala4044= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, the c.12132C is not highly conserved and nucleotide in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.