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Table. 1.

Results of DxSeq and BRCAaccuTest next-generation sequencing panel from positive sample of Sanger sequencing

Test ID Gene Nucleotide change AA change Inter-pretation Variant type Dxome results (NT) Dxome results (AA) BRCAaccuTest results
D85 BRCA2 c.9253delA p.Thr3085Glnfs*19 LP Indel c.9253delA p.Thr3085Glnfs*19 Not tested
D86 BRCA1 c.4027_4051delinsTC p.Asp1343Serfs*5 LP Indel c.4027_4051delinsTC p.Asp1343Serfs*5 Not tested
D87 BRCA2 c.8186delA p.Lys2729Argfs*4 LP Indel c.8186delA p.Lys2729Argfs*4 Not tested
D88 BRCA2 c.8488-1G>A P Intronic c.8488-1G>A Not tested
D89 BRCA1 c.520C>T p.Gln174* LP Nonsense c.520C>T p.Gln174* Not tested
D90 BRCA2 c.8969G>A p.Trp2990* P Nonsense c.8969G>A p.Trp2990* Not tested
D91 BRCA2 c.4766delC p.Pro1589Glnfs*28 LP Indel c.4766delC p.Pro1589Glnfs*28 Not tested
D92 BRCA2 c.5351delA p.Asn1784Thrfs*7 LP Indel c.5351delA p.Asn1784Thrfs*7 Not tested
D93 BRCA2 c.8488-1G>A P Intronic c.8488-1G>A Not tested
D94 BRCA1 c.5496_5506del11insA p.Val1833Serfs*7 LP Indel c.5496_5506del11insA p.Val1833Serfs*7 Not tested
D95 BRCA2 c.7480C>T p.Arg2494* P Nonsense c.7480C>T p.Arg2494* Not tested
D96 BRCA1 c.302-2A>C P Intronic c.302-2A>C Not tested
D97 BRCA1 c.928C>T p.Gln310* P Nonsense c.928C>T p.Gln310* Concordance
D98 BRCA1 c.2830delT p.Cys944Valfs*56 LP Indel c.2830delT p.Cys944Valfs*56 Concordance
D99 BRCA1 c.2563C>T p.Gln855* P Nonsense c.2563C>T p.Gln855* Concordance
D100 BRCA2 c.3744_3747delTGAG p.Ser1248Argfs*10 LP Indel c.3744_3747delTGAG p.Ser1248Argfs*10 Concordance
D101 BRCA2 c.7480C>T p.Arg2494* P Nonsense c.7480C>T p.Arg2494* Concordance
D102 BRCA1 c.5509T>C p.Trp1837Arg VUS Missense c.5509T>C p.Trp1837Arg Concordance
D103 BRCA2 c.1399A>T p.Lys467* P Nonsense c.1399A>T p.Lys467* Concordance
D104 BRCA1 c.4065_4068delTCAA p.Asn1355Lysfs*10 VUS Indel c.4065_4068delTCAA p.Asn1355Lysfs*10 Concordance
D105 BRCA1 c.922_924delinsT p.Ser308* LP Nonsense c.922_924delinsT p.Ser308* Concordance
D106 BRCA1 c.1823delA p.Lys608Argfs*4 LP Indel c.1823delA p.Lys608Argfs*4 Concordance
D107 BRCA2 c.5576_5579delTTAA p.Ile1859Lysfs*3 LP Indel c.5576_5579delTTAA p.Ile1859Lysfs*3 Concordance
D108 BRCA2 c.7480C>T p.Arg2494* P Nonsense c.7480C>T p.Arg2494* Concordance
D109 BRCA2 c.1888dupA p.Thr630Asnfs*6 LP Indel c.1888dupA p.Thr630Asnfs*6 Concordance
D110 BRCA2 c.9253delA p.Thr3085Glnfs*19 LP Indel c.9253delA p.Thr3085Glnfs*19 Concordance
D111 BRCA2 c.1399A>T p.Lys467* P Nonsense c.1399A>T p.Lys467* Concordance
D112 BRCA1 c.5445G>A p.Trp1815* P Nonsense c.5445G>A p.Trp1815* Concordance
D113 BRCA1 c.5445G>A p.Trp1815* P Nonsense c.5445G>A p.Trp1815* Concordance
D114 BRCA2 c.2798_2799delCA p.Thr933Argfs*2 LP Indel c.2798_2799delCA p.Thr933Argfs*2 Not detected
D115 BRCA1 c.2281G>T p.Glu761* LP Nonsense c.2281G>T p.Glu761* Concordance
D116 BRCA1 c.(441+1_442-1)_ (4185+1_4186-1)del VUS CNV Exon 8-12 deletion by CNV detection algorithm Not detected
D117 BRCA1 c.3627dupA p.Glu1210Argfs*9 VUS Indel c.3627dupA p.Glu1210Argfs*9 Concordance
D118 BRCA2 c.1399A>T p.Lys467* P Nonsense c.1399A>T p.Lys467* Concordance
D119 BRCA1 c.81-9C>G VUS Intronic c.81-9C>G Concordance
D120 BRCA1 c.5496_5506delinsA p.Val1833Serfs*7 LP Indel c.5496_5506delinsA p.Val1833Serfs*7 Not tested
D121 BRCA2 c.1399A>T p.Lys467* P Nonsense c.1399A>T p.Lys467* Concordance
D122 BRCA1 c.1511dupG p.Lys505* LP Nonsense c.1511dupG p.Lys505* Concordance
D123 BRCA1 c.3627dupA p.Glu1210Argfs*9 VUS Indel c.3627dupA p.Glu1210Argfs*9 Concordance
D124 BRCA2 c.5576_5579delTTAA p.Ile1859Lysfs*3 LP Indel c.5576_5579delTTAA p.Ile1859Lysfs*3 Concordance
D125 BRCA1 c.5445G>A p.Trp1815* P Nonsense c.5445G>A p.Trp1815* Concordance
D126 BRCA1 c.911_918dup p.Lys307Serfs*10 LP Indel c.911_918dup p.Lys307Serfs*10 Not detected
D127 BRCA2 c.7480C>T p.Arg2494* P Nonsense c.7480C>T p.Arg2494* Concordance
D128 BRCA1 c.66dupA p.Glu23Argfs*18 LP Indel c.66dupA p.Glu23Argfs*18 Concordance
D129 BRCA2 c.7480C>T p.Arg2494* P Nonsense c.7480C>T p.Arg2494* Concordance
D130 BRCA1 c.4335_4338dup p.Gln1447Argfs*16 LP Indel c.4335_4338dup p.Gln1447Argfs*16 Concordance
D131 BRCA2 c.9253delA p.Thr3085Glnfs*19 LP Indel c.9253delA p.Thr3085Glnfs*19 Concordance
D132 BRCA2 c.6332dupA p.Arg2112Glufs*17 LP Indel c.6332dupA p.Arg2112Glufs*17 Concordance
D133 BRCA1 c.5467+1G>A P Intronic c.5467+1G>A Concordance
D134 BRCA1 c.2400_2402delinsTT Lys800Asnfs*3 LP Indel c.2400_2402delinsTT Lys800Asnfs*3 Concordance
D135 BRCA1 c.3982dupT p.Ser1328Phefs*2 LP Indel c.3982dupT p.Ser1328Phefs*2 Concordance
D136 BRCA2 c.5576_5579delTTAA p.Ile1859Lysfs*3 LP Indel c.5576_5579delTTAA p.Ile1859Lysfs*3 Concordance
D137 BRCA2 c.8732delC p.Ala2911Glufs*16 LP Indel c.8732delC p.Ala2911Glufs*16 Concordance
D138 BRCA2 c.8172_8175delGTGG p.Trp2725Metfs*7 LP Indel c.8172_8175delGTGG p.Trp2725Metfs*7 Not detected
D139 BRCA1 c.3442delG p.Glu1148Argfs*7 LP Indel c.3442delG p.Glu1148Argfs*7 Not detected
D140 BRCA1 c.390C>A p.Tyr130* VUS Nonsense c.390C>A p.Tyr130* Concordance
D141 BRCA1 c.5266C>T p.Gln1756* P Nonsense c.5266C>T p.Gln1756* Concordance
D142 BRCA2 c.4523dupG p.Gln1509Thrfs*5 LP Indel c.4523dupG p.Gln1509Thrfs*5 Concordance
D143 BRCA2 c.9076C>T p.Gln3026* P Nonsense c.9076C>T p.Gln3026* Concordance
D144 BRCA2 c.6553delG p.Ala2185Leufs*6 LP Indel c.6553delG p.Ala2185Leufs*6 Not tested

The instruments used were from the following companies: DxSeq BRCA1/2 (Dxome, Seongnam, Korea) and BRCAaccuTest (NGeneBio, Seoul, Korea).

Abbreviations: AA, amino acid; BRCA1, breast cancer susceptibility gene 1; BRCA2, breast cancer susceptibility gene 2; LP, likely pathogenic; NT, nucleotide; P, pathogenic; VUS, variant of uncertain significance; CNV, copy number variant.
Lab Med Qual Assur 2022;44:216~225 https://doi.org/10.15263/jlmqa.2022.44.4.216
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