ClinVar

Description

The PKD2 p.Asn3Asn variant was not identified in the literature nor was it identified in the ClinVar, LOVD 3.0, ADPKD Mutation Database or PKD1-LOVD databases. The variant was identified in dbSNP (ID: rs773343245) and in control databases in 14 of 85778 chromosomes at a frequency of 0.000163 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 2 of 2566 chromosomes (freq: 0.000779), Ashkenazi Jewish in 4 of 5596 chromosomes (freq: 0.000715), European (non-Finnish) in 6 of 36322 chromosomes (freq: 0.000165) and South Asian in 2 of 14048 chromosomes (freq: 0.000142), while the variant was not observed in the African, Latino, East Asian, and European (Finnish) populations. The p.Asn3Asn 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. Two of four in silico or computational prediction software programs (SpliceSiteFinder and MaxEntScan) predict the creation of a new 5' splice site, however this is not very predictive of pathogenecity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.