ClinVar

Description

The FANCC p.Lys109= variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Cosmic, MutDB, or the LOVD 3.0 database. The variant was only identified in control databases in 1 of 245964 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). It was observed in the following population: European in 1 of 111520 chromosomes (freq: 0.00001); it was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.Lys109= 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. However, 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. 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.