Unique variants in gene BRCA2

Information The variants shown are described using the NM_000059.3 transcript reference sequence.

239 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
+/+ 1 - c.10G>T r.(?) p.(Gly4*) g.32890607G>T - BRCA2_000227 - Germline yes No Despoina Kalfakakou
./. 1 - c.13T>C r.(?) p.(Ser5Pro) g.32890610T>C - BRCA2_000073 - - - - Despoina Kalfakakou
./. 1 - c.28A>G r.(?) p.(Thr10Ala) g.32890625A>G - BRCA2_000178 - - - - Despoina Kalfakakou
./. 1 - c.67+51C>A r.(=) p.(=) g.32890715C>A - BRCA2_000037 - - - - Despoina Kalfakakou
./. 2 - c.68-42T>C r.(=) p.(=) g.32893172T>C - BRCA2_000085 - - - - Despoina Kalfakakou
./. 2 - c.68-16T>A r.(=) p.(=) g.32893198T>A - BRCA2_000122 - - - - Despoina Kalfakakou
./. 2 - c.68-16T>C r.(=) p.(=) g.32893198T>C - BRCA2_000086 - - - - Despoina Kalfakakou
-/-, ./. 13 - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 - Germline ? No Despoina Kalfakakou
./. 1 - c.77C>T r.(?) p.(Pro26Leu) g.32893223C>T - BRCA2_000210 - - - - Despoina Kalfakakou
./. 1 - c.117T>A r.(=) p.(=) g.32893263T>A - BRCA2_000199 - - - - Despoina Kalfakakou
./. 7 - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - - - Despoina Kalfakakou
./. 5 - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - - - Despoina Kalfakakou
./. 2 - c.244A>C r.(?) p.(Lys82Gln) g.32893390A>C - BRCA2_000189 - - - - Despoina Kalfakakou
./. 3 - c.267G>A r.(=) p.(=) g.32893413G>A - BRCA2_000162 - - - - Despoina Kalfakakou
./. 2 - c.316+12A>G r.(=) p.(=) g.32893474A>G - BRCA2_000038 - - - - Despoina Kalfakakou
./. 1 - c.316+32A>G r.(=) p.(=) g.32893494A>G - BRCA2_000147 - - - - Despoina Kalfakakou
./. 1 - c.316+33C>G r.(=) p.(=) g.32893495C>G - BRCA2_000123 - - - - Despoina Kalfakakou
./. 1 - c.375T>A r.(?) p.(Asp125Glu) g.32899271T>A - BRCA2_000212 rs80358616 - - - Despoina Kalfakakou
./. 1 - c.425+33A>G r.(=) p.(=) g.32899354A>G - BRCA2_000206 - - - - Despoina Kalfakakou
./. 1 - c.425+37A>G r.(=) p.(=) g.32899358A>G - BRCA2_000039 - - - - Despoina Kalfakakou
./. 1 - c.426-7A>G r.(=) p.(=) g.32900231A>G - BRCA2_000148 - - - - Despoina Kalfakakou
./. 2 - c.438A>G r.(=) p.(=) g.32900250A>G - BRCA2_000029 - - - - Despoina Kalfakakou
./. 1 - c.440A>G r.(?) p.(Gln147Arg) g.32900252A>G - BRCA2_000224 rs80358674 - - - Despoina Kalfakakou
./. 4 - c.475+26T>C r.(=) p.(=) g.32900313T>C - BRCA2_000111 - - - - Despoina Kalfakakou
./. 1 - c.517-30T>C r.(=) p.(=) g.32900606T>C - BRCA2_000221 - - - - Despoina Kalfakakou
./. 1 - c.517-19C>T r.(=) p.(=) g.32900617C>T - BRCA2_000108 rs11571623 - - - Despoina Kalfakakou
./. 1 - c.536_537insT r.(?) p.(Ile180Tyrfs*3) g.32900655_32900656insT - BRCA2_000174 - - - - Despoina Kalfakakou
./. 4 - c.631+25C>T r.(=) p.(=) g.32900775C>T - BRCA2_000040 - - - - Despoina Kalfakakou
./. 4 - c.631+43G>T r.(=) p.(=) g.32900793G>T - BRCA2_000088 - - - - Despoina Kalfakakou
./. 1 - c.631+47A>G r.(=) p.(=) g.32900797A>G - BRCA2_000131 - - - - Despoina Kalfakakou
./. 2 - c.632-4_632-3del r.spl? p.? g.32903576_32903577del - BRCA2_000089 - - - - Despoina Kalfakakou
./. 6 - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 - - - - Despoina Kalfakakou
./. 1 - c.710A>G r.(?) p.(Asp237Gly) g.32905084A>G - BRCA2_000137 - - - - Despoina Kalfakakou
./. 1 - c.794-45A>G r.(=) p.(=) g.32906364A>G - BRCA2_000072 - - - - Despoina Kalfakakou
./. 1 - c.794-43G>A r.(=) p.(=) g.32906366G>A - BRCA2_000132 - - - - Despoina Kalfakakou
./. 1 - c.800G>A r.(?) p.(Gly267Glu) g.32906415G>A - BRCA2_000182 rs80359036 - - - Despoina Kalfakakou
./. 2 - c.856T>C r.(?) p.(Ser286Pro) g.32906471T>C - BRCA2_000121 rs80359111 - - - Despoina Kalfakakou
./. 1 - c.905C>T r.(?) p.(Thr302Ile) g.32906520C>T - BRCA2_000090 rs80359158 - - - Despoina Kalfakakou
./. 7 - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - - - Despoina Kalfakakou
./. 1 - c.992A>T r.(?) p.(Lys331Ile) g.32906607A>T - BRCA2_000154 rs80359253 - - - Despoina Kalfakakou
./. 1 - c.1012G>A r.(?) p.(Ala338Thr) g.32906627G>A - BRCA2_000109 rs80358396 - - - Despoina Kalfakakou
?/? 2 - c.1022G>A r.(?) p.(Cys341Tyr) g.32906637G>A - BRCA2_000239 - Germline ? N/A Despoina Kalfakakou
./. 1 - c.1117C>T r.(?) p.(Gln373*) g.32906732C>T - BRCA2_000124 - - - - Despoina Kalfakakou
./. 1 - c.1127T>G r.(?) p.(Phe376Cys) g.32906742T>G - BRCA2_000050 rs80358410 - - - Despoina Kalfakakou
./. 16 - c.1151C>T r.(?) p.(Ser384Phe) g.32906766C>T - BRCA2_000031 rs41293475 - - - Despoina Kalfakakou
./. 1 - c.1181A>C r.(?) p.(Glu394Ala) g.32906796A>C - BRCA2_000032 rs56016241 - - - Despoina Kalfakakou
./. 2 - c.1216G>A r.(?) p.(Ala406Thr) g.32906831G>A - BRCA2_000110 - - - - Despoina Kalfakakou
./. 2 - c.1219C>G r.(?) p.(Gln407Glu) g.32906834C>G - BRCA2_000104 - - - - Despoina Kalfakakou
./. 1 - c.1342C>T r.(?) p.(Arg448Cys) g.32906957C>T - BRCA2_000186 rs80358422 - - - Despoina Kalfakakou
./. 1 - c.1362A>G r.(=) p.(=) g.32906977A>G - BRCA2_000222 rs55919657 - - - Despoina Kalfakakou
./. 1 - c.1385A>G r.(?) p.(Glu462Gly) g.32907000A>G - BRCA2_000033 rs56403624 - - - Despoina Kalfakakou
./. 1 - c.1400_1401del r.(?) p.(Asp469*) g.32907015_32907016del - BRCA2_000051 - - - - Despoina Kalfakakou
./. 1 - c.1429C>A r.(?) p.(His477Asn) g.32907044C>A - BRCA2_000205 - - - - Despoina Kalfakakou
./. 1 - c.1444C>T r.(?) p.(Leu482Phe) g.32907059C>T - BRCA2_000036 - - - - Despoina Kalfakakou
./. 2 - c.1514T>C r.(?) p.(Ile505Thr) g.32907129T>C - BRCA2_000157 rs28897708 - - - Despoina Kalfakakou
./. 1 - c.1545T>C r.(=) p.(=) g.32907160T>C - BRCA2_000114 - - - - Despoina Kalfakakou
./. 1 - c.1786G>C r.(?) p.(Asp596His) g.32907401G>C - BRCA2_000115 rs56328701 - - - Despoina Kalfakakou
./. 1 - c.1788T>C r.(=) p.(=) g.32907403T>C - BRCA2_000163 rs11571642 - - - Despoina Kalfakakou
./. 13 - c.1792A>G r.(?) p.(Thr598Ala) g.32907407A>G - BRCA2_000034 rs28897710 - - - Despoina Kalfakakou
+/+ 1 - c.1796_1800del r.(?) p.(Ser599*) g.32907411_32907415del - BRCA2_000149 - Germline ? - Despoina Kalfakakou
./. 2 - c.1805_1806insA r.(?) p.(Ile605Asnfs*11) g.32907420_32907421insA - BRCA2_000042 - - - - Despoina Kalfakakou
./. 1 - c.1806del r.(?) p.(Ile605Tyrfs*9) g.32907421del - BRCA2_000043 rs80359307 - - - Despoina Kalfakakou
./. 1 - c.1820A>C r.(?) p.(Lys607Thr) g.32907435A>C - BRCA2_000116 rs55962656 - - - Despoina Kalfakakou
./. 1 - c.1887_1888insA r.(?) p.(Thr630Asnfs*6) g.32907502_32907503insA - BRCA2_000173 - - - - Despoina Kalfakakou
./. 1 - c.1910-10T>C r.(=) p.(=) g.32910392T>C - BRCA2_000213 - - - - Despoina Kalfakakou
./. 3 - c.1938C>T r.(=) p.(=) g.32910430C>T - BRCA2_000117 rs28897711 - - - Despoina Kalfakakou
./. 1 - c.1964C>G r.(?) p.(Pro655Arg) g.32910456C>G - BRCA2_000183 rs28897712 - - - Despoina Kalfakakou
./. 1 - c.2045T>A r.(?) p.(Ile682Asn) g.32910537T>A - BRCA2_000220 - - - - Despoina Kalfakakou
./. 2 - c.2144G>C r.(?) p.(Gly715Ala) g.32910636G>C - BRCA2_000192 - - - - Despoina Kalfakakou
./. 1 - c.2174A>G r.(?) p.(Lys725Arg) g.32910666A>G - BRCA2_000035 - - - - Despoina Kalfakakou
+/+, ./. 5 - c.2339C>G r.(?) p.(Ser780*) g.32910831C>G - BRCA2_000044 - Germline ? No Despoina Kalfakakou
./. 2 - c.2490C>T r.(=) p.(=) g.32910982C>T - BRCA2_000105 rs56331088 - - - Despoina Kalfakakou
./. 2 - c.2490_2491insT r.(?) p.(Val831Cysfs*2) g.32910982_32910983insT - BRCA2_000045 - - - - Despoina Kalfakakou
./. 1 - c.2533C>T r.(?) p.(Pro845Ser) g.32911025C>T - BRCA2_000146 - - - - Despoina Kalfakakou
./. 1 - c.2538A>C r.(=) p.(=) g.32911030A>C - BRCA2_000164 rs11571654 - - - Despoina Kalfakakou
./. 1 - c.2753A>G r.(?) p.(Asn918Ser) g.32911245A>G - BRCA2_000019 - - - - Despoina Kalfakakou
./. 3 - c.2779A>G r.(?) p.(Met927Val) g.32911271A>G - BRCA2_000020 - - - - Despoina Kalfakakou
./. 5 - c.2803G>A r.(?) p.(Asp935Asn) g.32911295G>A - BRCA2_000081 rs28897716 - - - Despoina Kalfakakou
./. 3 - c.2806_2809del r.(?) p.(Ala938Profs*21) g.32911298_32911301del - BRCA2_000091 rs80359351 - - - Despoina Kalfakakou
+/+ 1 - c.2808_2811del r.(?) p.(Ala938Profs*21) g.32911300_32911303del - BRCA2_000238 - Germline - - Despoina Kalfakakou
./. 2 - c.2883G>A r.(=) p.(=) g.32911375G>A - BRCA2_000203 rs11571655 - - - Despoina Kalfakakou
./. 4 - c.2919G>A r.(=) p.(=) g.32911411G>A - BRCA2_000021 rs45525041 - - - Despoina Kalfakakou
./. 1 - c.2944A>C r.(?) p.(Ile982Leu) g.32911436A>C - BRCA2_000165 rs28897717 - - - Despoina Kalfakakou
./. 2 - c.3032C>G r.(?) p.(Thr1011Arg) g.32911524C>G - BRCA2_000118 rs80358548 - - - Despoina Kalfakakou
./. 2 - c.3049A>G r.(?) p.(Ile1017Val) g.32911541A>G - BRCA2_000179 - - - - Despoina Kalfakakou
./. 10 - c.3055C>G r.(?) p.(Leu1019Val) g.32911547C>G - BRCA2_000022 rs55638633 - - - Despoina Kalfakakou
./. 1 - c.3073A>G r.(?) p.(Lys1025Glu) g.32911565A>G - BRCA2_000023 rs80358550 - - - Despoina Kalfakakou
./. 1 - c.3136G>A r.(?) p.(Glu1046Lys) g.32911628G>A - BRCA2_000046 - - - - Despoina Kalfakakou
./. 1 - c.3404A>G r.(?) p.(Tyr1135Cys) g.32911896A>G - BRCA2_000126 - - - - Despoina Kalfakakou
./. 2 - c.3413A>T r.(?) p.(Gln1138Leu) g.32911905A>T - BRCA2_000153 rs80358584 - - - Despoina Kalfakakou
./. 1 - c.3443A>G r.(?) p.(Gln1148Arg) g.32911935A>G - BRCA2_000228 - - - - Despoina Kalfakakou
./. 1 - c.3515C>T r.(?) p.(Ser1172Leu) g.32912007C>T - BRCA2_000135 rs80358600 - - - Despoina Kalfakakou
./. 22 - c.3516G>A r.(=) p.(=) g.32912008G>A - BRCA2_000024 rs1799952 - - - Despoina Kalfakakou
+/+, ./. 2 - c.3554_3563del r.(?) p.(Thr1185Ilefs*9) g.32912046_32912055del - BRCA2_000158 - Germline ? No Despoina Kalfakakou
./. 1 - c.3568C>T r.(?) p.(Arg1190Trp) g.32912060C>T - BRCA2_000092 rs80358604 - - - Despoina Kalfakakou
./. 2 - c.3569G>A r.(?) p.(Arg1190Gln) g.32912061G>A - BRCA2_000159 rs80358605 - - - Despoina Kalfakakou
./. 2 - c.3581G>A r.(?) p.(Gly1194Asp) g.32912073G>A - BRCA2_000106 rs28897721 - - - Despoina Kalfakakou
./. 1 - c.4061C>T r.(?) p.(Thr1354Met) g.32912553C>T - BRCA2_000198 rs80358656 - - - Despoina Kalfakakou
./. 19 - c.4068G>A r.(=) p.(=) g.32912560G>A - BRCA2_000025 rs28897724 - - - Despoina Kalfakakou
./. 28 - c.4258G>T r.(?) p.(Asp1420Tyr) g.32912750G>T - BRCA2_000026 rs28897727 - - - Despoina Kalfakakou
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