Unique variants in gene BRCA2

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

298 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
+?/+? 1 - c.-40+1G>A r.spl? p.? g.32889805G>A - BRCA2_000243 - - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c. 1405_1406del r.(?) p.(Asp469*) g.32907020_32907021del - BRCA2_000280 rs397507586 - Germline ? - - - Despoina Kalfakakou
+/+ 3 - c.5791 C>T r.(?) p.(Gln1931*) g.32914283C>T - BRCA2_000134 rs80358807 - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c.9382 C>T r.(?) p.(Arg3128*) g.32968951C>T - BRCA2_000258 - - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.10G>T r.(?) p.(Gly4*) g.32890607G>T - BRCA2_000227 rs397507571 - Germline yes - - - Despoina Kalfakakou
?/? 1 - c.13T>C r.(?) p.(Ser5Pro) g.32890610T>C - BRCA2_000073 rs1478936460 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.28A>G r.(?) p.(Thr10Ala) g.32890625A>G - BRCA2_000178 rs786203080 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.67+51C>A r.(=) p.(=) g.32890715C>A - BRCA2_000037 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.68-42T>C r.(=) p.(=) g.32893172T>C - BRCA2_000085 - - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.68-16T>A r.(=) p.(=) g.32893198T>A - BRCA2_000122 rs397507882 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.68-16T>C r.(=) p.(=) g.32893198T>C - BRCA2_000086 - - Germline - - - - Despoina Kalfakakou
-/- 15 - c.68-7T>A r.(=) p.(=) g.32893207T>A - BRCA2_000028 rs81002830 - Germline ? - - - Despoina Kalfakakou
+/+ 3 3 c.(67+1_68-1)_(316+1_317-1)del r.(?) p.(?) g.(32890665_32893213)_(32893463_32899212)del - BRCA2_000316 - - Germline ? BRCA2 exon 3 deletion - - Despoina Kalfakakou
?/? 1 - c.77C>T r.(?) p.(Pro26Leu) g.32893223C>T - BRCA2_000210 rs1566215668 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.117T>A r.(=) p.(=) g.32893263T>A - BRCA2_000199 - - Germline - - - - Despoina Kalfakakou
-?/-? 7 - c.125A>G r.(?) p.(Tyr42Cys) g.32893271A>G - BRCA2_000087 rs4987046 - Germline - - - - Despoina Kalfakakou
-/- 5 - c.198A>G r.(=) p.(=) g.32893344A>G - BRCA2_000074 rs28897700 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.244A>C r.(?) p.(Lys82Gln) g.32893390A>C - BRCA2_000189 rs397507628 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.267G>A r.(=) p.(=) g.32893413G>A - BRCA2_000162 rs587780648 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.316+12A>G r.(=) p.(=) g.32893474A>G - BRCA2_000038 rs186419778 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.316+32A>G r.(=) p.(=) g.32893494A>G - BRCA2_000147 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.316+33C>G r.(=) p.(=) g.32893495C>G - BRCA2_000123 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.324T>C r.(=) p.(=) g.32899220T>C - BRCA2_000291 rs772010158 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.374A>T r.(?) p.(Asp125Val) g.32899270A>T - BRCA2_000281 - - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.375T>A r.(?) p.(Asp125Glu) g.32899271T>A - BRCA2_000212 rs80358616 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.425+33A>G r.(=) p.(=) g.32899354A>G - BRCA2_000206 rs200065709 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.425+37A>G r.(=) p.(=) g.32899358A>G - BRCA2_000039 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.426-7A>G r.(=) p.(=) g.32900231A>G - BRCA2_000148 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.438A>G r.(=) p.(=) g.32900250A>G - BRCA2_000029 rs200942633 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.440A>G r.(?) p.(Gln147Arg) g.32900252A>G - BRCA2_000224 rs80358674 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.475+26T>C r.(=) p.(=) g.32900313T>C - BRCA2_000111 rs778866949 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.517-30T>C r.(=) p.(=) g.32900606T>C - BRCA2_000221 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.517-19C>T r.(=) p.(=) g.32900617C>T - BRCA2_000108 rs11571623 - Germline - - - - Despoina Kalfakakou
+/+ 8 - c.537dup r.(?) p.(Ile180Tyrfs*3) g.32900656dup - BRCA2_000312 rs1566219199 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.569C>T r.(?) p.(Pro190Leu) g.32900688C>T - BRCA2_000319 - - Germline - - - - Despoina Kalfakakou
-?/-? 5 - c.631+25C>T r.(=) p.(=) g.32900775C>T - BRCA2_000040 rs367871824 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.631+43G>T r.(=) p.(=) g.32900793G>T - BRCA2_000088 rs276174869 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.631+47A>G r.(=) p.(=) g.32900797A>G - BRCA2_000131 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.632-4_632-3del r.spl? p.? g.32903576_32903577del - BRCA2_000089 - - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.658_659del r.(?) p.(Val220Ilefs*4) g.32903606_32903607del - BRCA2_000251 rs80359604 - Germline ? - - - Despoina Kalfakakou
-?/-? 5 - c.682-32A>G r.(=) p.(=) g.32905024A>G - BRCA2_000030 rs376686897 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.682-1G>T r.spl? p.? g.32905055G>T - BRCA2_000271 rs81002831 - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.710A>G r.(?) p.(Asp237Gly) g.32905084A>G - BRCA2_000137 rs730881506 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.794-45A>G r.(=) p.(=) g.32906364A>G - BRCA2_000072 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.794-43G>A r.(=) p.(=) g.32906366G>A - BRCA2_000132 - - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.800G>A r.(?) p.(Gly267Glu) g.32906415G>A - BRCA2_000182 rs80359036 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.856T>C r.(?) p.(Ser286Pro) g.32906471T>C - BRCA2_000121 rs80359111 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.905C>T r.(?) p.(Thr302Ile) g.32906520C>T - BRCA2_000090 rs80359158 - Germline - - - - Despoina Kalfakakou
-/-, ./. 8 - c.978C>A r.(?) p.(Ser326Arg) g.32906593C>A - BRCA2_000041 rs28897706 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.992A>T r.(?) p.(Lys331Ile) g.32906607A>T - BRCA2_000154 rs80359253 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1012G>A r.(?) p.(Ala338Thr) g.32906627G>A - BRCA2_000109 rs80358396 - Germline ? - - - Despoina Kalfakakou
?/? 2 - c.1022G>A r.(?) p.(Cys341Tyr) g.32906637G>A - BRCA2_000239 rs80358403 - Germline ? - - - Despoina Kalfakakou
+/+ 2 - c.1117C>T r.(?) p.(Gln373*) g.32906732C>T - BRCA2_000124 rs397507572 - Germline ? - - - Despoina Kalfakakou
?/? 2 - c.1127T>G r.(?) p.(Phe376Cys) g.32906742T>G - BRCA2_000050 rs80358410 - Germline ? - - - Despoina Kalfakakou
-/-, ./. 18 - c.1151C>T r.(?) p.(Ser384Phe) g.32906766C>T - BRCA2_000031 rs41293475 - Germline - - - - Despoina Kalfakakou, Stevi Xera
./. 1 - c.1159G>T r.(?) p.(Val387Phe) g.32906774G>T - BRCA2_000328 - - - - - - - Stevi Xera
./. 1 - c.1177T>C r.(?) p.(Cys393Arg) g.32906792T>C - BRCA2_000327 - - - - - - - Stevi Xera
-/- 1 - c.1181A>C r.(?) p.(Glu394Ala) g.32906796A>C - BRCA2_000032 rs56016241 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1216G>A r.(?) p.(Ala406Thr) g.32906831G>A - BRCA2_000110 rs751535164 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1219C>G r.(?) p.(Gln407Glu) g.32906834C>G - BRCA2_000104 rs781079248 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1342C>T r.(?) p.(Arg448Cys) g.32906957C>T - BRCA2_000186 rs80358422 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1362A>G r.(=) p.(=) g.32906977A>G - BRCA2_000222 rs55919657 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1385A>G r.(?) p.(Glu462Gly) g.32907000A>G - BRCA2_000033 rs56403624 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.1400_1401del r.(?) p.(Asp469*) g.32907015_32907016del - BRCA2_000051 rs397507586 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1444C>T r.(?) p.(Leu482Phe) g.32907059C>T - BRCA2_000036 rs587776460 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.1514T>C r.(?) p.(Ile505Thr) g.32907129T>C - BRCA2_000157 rs28897708 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.1532C>A r.(?) p.(Ser511*) g.32907147C>A - BRCA2_000272 rs1555281935 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.1545T>C r.(=) p.(=) g.32907160T>C - BRCA2_000114 rs786202158 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1786G>C r.(?) p.(Asp596His) g.32907401G>C - BRCA2_000115 rs56328701 - Germline - - - - Despoina Kalfakakou
-/- 2 - c.1788T>C r.(=) p.(=) g.32907403T>C - BRCA2_000163 rs11571642 - Germline - - - - Despoina Kalfakakou
-/- 13 - c.1792A>G r.(?) p.(Thr598Ala) g.32907407A>G - BRCA2_000034 rs28897710 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1796_1800del r.(?) p.(Ser599*) g.32907411_32907415del - BRCA2_000149 rs276174813 - Germline ? - - - Despoina Kalfakakou
+/+ 1 - c.1806del r.(?) p.(Ile605Tyrfs*9) g.32907421del - BRCA2_000043 rs80359307 - Germline - - - - Despoina Kalfakakou
+/+ 11 - c.1813dup r.(?) p.(Ile605Asnfs*11) g.32907428dup - BRCA2_000274 rs80359306 - Germline ? - - - Despoina Kalfakakou
-?/-? 1 - c.1820A>C r.(?) p.(Lys607Thr) g.32907435A>C - BRCA2_000116 rs55962656 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1887_1888insA r.(?) p.(Thr630Asnfs*6) g.32907502_32907503insA - BRCA2_000173 rs80359314 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1910-10T>C r.(=) p.(=) g.32910392T>C - BRCA2_000213 - - Germline - - - - Despoina Kalfakakou
-/- 4 - c.1938C>T r.(=) p.(=) g.32910430C>T - BRCA2_000117 rs28897711 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1964C>G r.(?) p.(Pro655Arg) g.32910456C>G - BRCA2_000183 rs28897712 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2045T>A r.(?) p.(Ile682Asn) g.32910537T>A - BRCA2_000220 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2144G>C r.(?) p.(Gly715Ala) g.32910636G>C - BRCA2_000192 rs1566226193 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2174A>G r.(?) p.(Lys725Arg) g.32910666A>G - BRCA2_000035 - - Germline - - - - Despoina Kalfakakou
+/+ 19 - c.2339C>G r.(?) p.(Ser780*) g.32910831C>G - BRCA2_000044 rs587781471 - Germline ? - - - Despoina Kalfakakou
-?/-? 3 - c.2490C>T r.(=) p.(=) g.32910982C>T - BRCA2_000105 rs56331088 - Germline - - - - Despoina Kalfakakou
+/+ 4 - c.2490_2491insT r.(?) p.(Val831Cysfs*2) g.32910982_32910983insT - BRCA2_000045 rs886040430 - Germline ? - - - Despoina Kalfakakou
./., ?/? 2 - c.2496G>T r.(?) p.(Glu832Asp), p.Glu832Asp g.32910988G>T - BRCA2_000324 - - Germline - - - - Stevi Xera
?/? 1 - c.2533C>T r.(?) p.(Pro845Ser) g.32911025C>T - BRCA2_000146 - - Germline - - - - Despoina Kalfakakou
-/- 1 - c.2538A>C r.(=) p.(=) g.32911030A>C - BRCA2_000164 rs11571654 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.2644del r.(?) p.(Leu882Phefs*13) g.32911136del - BRCA2_000290 rs1555282764 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2701C>G r.(?) p.(Leu901Val) g.32911193C>G - BRCA2_000295 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2753A>G r.(?) p.(Asn918Ser) g.32911245A>G - BRCA2_000019 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.2779A>G r.(?) p.(Met927Val) g.32911271A>G - BRCA2_000020 rs786201837 - Germline - - - - Despoina Kalfakakou
-?/-? 4 - c.2803G>A r.(?) p.(Asp935Asn) g.32911295G>A - BRCA2_000081 rs28897716 - Germline - - - - Despoina Kalfakakou
./. 1 - c.2806_2809del r.(?) p.(Ala938Profs*21) g.32911298_32911301del - BRCA2_000238 rs80359351 - - - - - - Stevi Xera
+/+ 11 - c.2808_2811del r.(?) p.(Ala938Profs*21) g.32911298_32911301del, g.32911300_32911303del - BRCA2_000238 rs80359351 - Germline ? - - - Despoina Kalfakakou
-/- 2 - c.2883G>A r.(=) p.(=) g.32911375G>A - BRCA2_000203 rs11571655 - Germline - - - - Despoina Kalfakakou
-/- 4 - c.2919G>A r.(=) p.(=) g.32911411G>A - BRCA2_000021 rs45525041 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2944A>C r.(?) p.(Ile982Leu) g.32911436A>C - BRCA2_000165 rs28897717 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.3032C>G r.(?) p.(Thr1011Arg) g.32911524C>G - BRCA2_000118 rs80358548 - Germline - - - - Despoina Kalfakakou
+?/+?, ./. 7 - c.3049A>G r.(?) p.(Ile1017Val) g.32911541A>G - BRCA2_000179 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
Legend   « First ‹ Prev     1 2 3     Next › Last »