ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by Genetics and Molecular Pathology, SA Pathology

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met) rs876658195 0.00004
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg) rs587781396 0.00001
NM_007194.4(CHEK2):c.444+4G>A rs1434760802 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe) rs765175665 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala) rs1174270999
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.7648A>C (p.Ile2550Leu) rs41293507
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) rs730881690
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) rs587781519
NM_024675.4(PALB2):c.2724A>T (p.Lys908Asn) rs1555459932
NM_024675.4(PALB2):c.3351-7C>T rs2142255767
NM_024675.4(PALB2):c.3386C>T (p.Ala1129Val) rs1567205179
NM_024675.4(PALB2):c.693A>T (p.Lys231Asn) rs876658847
NM_032043.3(BRIP1):c.359G>A (p.Gly120Asp) rs730881637

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