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Gene Variant type cHGVS pHGVS AF (%) in sample 01 AF (%) in sample 02 AF (%) in sample 03 variant status (germline/somatic) Frequencies in different population in GnomAD database BRCA2 missense_variant NM_000059.3:c.978C > A NP_000050.2:p.(Ser326Arg) 16.96 24.69 15.98 confirmed germline varianta ALL:0.090% - NFE:0.14% FGF5 3_prime_UTR_variant NM_004464.3:c.*1139 T > C 39.17 40.88 81.8 likely germline variantb ALL:0.89% - NFE:0.82% FGFR2 missense_variant NM_000141.4:c.170C > T NP_000132.3:p.(Ser57Leu) 40.64 50 88.62 likely germline variantb ALL:0.45% - NFE:0.31% STK11 synonymous_variant NM_000455.4:c.945G > A NM_000455.4:p.(Pro315=) 70.77 40.5 80.77 confirmed germline varianta ALL:0.072% - NFE:0.073% BCL6 splice_region_variant,intron_variant NM_001706.4:c.1356-3 T > C p.? 48.3 30.6 42.9 likely germline variantb ALL:0.24% -NFE:0.18% BRCA2 splice_acceptor_variant NM_000059.3:c.8755-1G > A p.? 72.3 72.6 81.2 confirmed germline varianta Not known to gnomAD AR synonymous_variant NM_000044.3:c.1365 T > G NM_000044.3:p.(Gly455=) 13.82 nd nd somatic variantc Not known to gnomAD RPS6KB1 synonymous_variant NM_001272043.1:c.621G > A NM_001272043.1:p.(Gly207=) 8.99 nd nd somatic variantc Not known to gnomAD PDGFRB missense_variant NM_002609.3:c.1312G > T NP_002600.1:p.(Gly438Cys) nd 33.2 nd somatic variantc Not known to gnomAD CTNNB1 synonymous_variant NM_001904.3:c.765C > A NM_001904.3:p.(Ala255=) nd nd 77.66 somatic variantc Not known to gnomAD ERBB4 missense_variant NM_005235.2:c.670C > A NP_005226.1:p.(Pro224Thr) nd nd 23.68 somatic variantc Not known to gnomAD FGF14 missense_variant NM_175929.2:c.4G > A NP_787125.1:p.(Val2Ile) nd nd 37.15 somatic variantc ALL:0.00040% NF1 missense_variant NM_000267.3:c.7086C > G NP_000258.1:p.(Asn2362Lys) nd nd 34.25 somatic variantc Not known to gnomAD TP53 missense_variant NM_000546.5:c.844C > T NP_000537.3:p.(Arg282Trp) nd nd 73.6 somatic variantc ALL:0.00040% - NFE:0.00090% TSC1 missense_variant NM_000368.4:c.967C > A NP_000359.1:p.(Pro323Thr) nd nd 32.35 somatic variantc ALL:0.00040% - NFE:0.00090%
AF allele frequency of nucleotide variant in the sample, nd not detected, cHGVS variant description on coding DNA reference sequence according to Human Genome Variation Society, pHGVS variant description on protein reference sequence according to Human Genome Variation Societya the variant was confirmed on DNA isolated from patient blood sample, b variant was classified as likely gemline if the frequency in populations reported in GnomAD database were > 0,005, c variants not reported in GnomAD or reported in GnomAD with the frequency < 0,005 in different populations
