Unique variants in the BRWD3 gene

Information The variants shown are described using the NM_153252.4 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.14C>G r.(?) p.(Pro5Arg) - likely benign g.80064957G>C g.80809458G>C BRWD3(NM_153252.4):c.14C>G (p.P5R) - BRWD3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.33G>A r.(?) p.(Glu11=) - likely benign g.80064802C>T g.80809303C>T BRWD3(NM_153252.4):c.33G>A (p.E11=, p.(=)) - BRWD3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.67G>C r.(?) p.(Gly23Arg) - VUS g.80064768C>G g.80809269C>G - - BRWD3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.94C>T r.(?) p.(Leu32=) - likely benign g.80064538G>A - BRWD3(NM_153252.4):c.94C>T (p.L32=) - BRWD3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.100C>T r.(?) p.(Gln34*) - likely pathogenic g.80064532G>A g.80809033G>A - - BRWD3_000083 - - - - Unknown - - - - - IMGAG
?/. 2 - c.121-163_121-162del r.(=) p.(=) - VUS g.80064259_80064260del g.80808760_80808761del - - BRWD3_000035 - - - - Germline - - - - - Yu Sun
?/. 2 - c.121-162del r.(=) p.(=) - VUS g.80064259del g.80808760del - - BRWD3_000033 - - - - Germline - - - - - Yu Sun
?/. 2 - c.331+123G>A r.(=) p.(=) - VUS g.80048998C>T g.80793499C>T - - BRWD3_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.348A>G r.(?) p.(Leu116=) - likely benign g.80047435T>C - BRWD3(NM_153252.4):c.348A>G (p.L116=) - BRWD3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.445G>A r.(?) p.(Ala149Thr) - VUS g.80001214C>T g.80745715C>T BRWD3(NM_153252.4):c.445G>A (p.A149T) - BRWD3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.460G>A r.(?) p.(Gly154Ser) - VUS g.80001199C>T g.80745700C>T BRWD3(NM_153252.5):c.460G>A (p.G154S) - BRWD3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.568C>T r.(?) p.(Arg190Ter) - likely pathogenic g.80001091G>A g.80745592G>A - - BRWD3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.573C>T r.(?) p.(Ser191=) - likely benign g.80001086G>A g.80745587G>A BRWD3(NM_153252.5):c.573C>T (p.S191=) - BRWD3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.591+1G>A r.spl? p.? - likely pathogenic g.80001067C>T g.80745568C>T - - BRWD3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 4 - c.592-47_592-45dup r.(=) p.(=) - VUS g.79999797_79999799dup g.80744298_80744300dup - - BRWD3_000031, BRWD3_000039 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.597A>C r.(?) p.(Ser199=) - likely benign g.79999747T>G g.80744248T>G BRWD3(NM_153252.5):c.597A>C (p.S199=) - BRWD3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.696T>A r.(?) p.(Tyr232*) - likely pathogenic g.79999648A>T g.80744149A>T - - BRWD3_000093 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.778C>A r.(?) p.(Leu260Ile) - VUS g.79999566G>T g.80744067G>T - - BRWD3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.814-167G>A r.(=) p.(=) - VUS g.79991754C>T g.80736255C>T - - BRWD3_000029 - - - - Germline - - - - - Yu Sun
-/. 1 - c.814-4dup r.spl? p.? - benign g.79991603dup g.80736104dup BRWD3(NM_153252.4):c.814-4dupT - BRWD3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.915A>G r.(?) p.(Arg305=) - likely benign g.79990696T>C - BRWD3(NM_153252.5):c.915A>G (p.R305=) - BRWD3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.917A>G r.(?) p.(Asp306Gly) - VUS g.79990694T>C g.80735195T>C - - BRWD3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 10 c.946dup r.(?) p.(Arg316Lysfs*22) - VUS g.79990665dup g.80735166dup R316Kfs*22 - BRWD3_000064 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1085C>T r.(?) p.(Thr362Met) - VUS g.79989618G>A g.80734119G>A BRWD3(NM_153252.4):c.1085C>T (p.T362M) - BRWD3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1087-100dup r.(=) p.(=) - VUS g.79989108dup g.80733609dup - - BRWD3_000028 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1087-23G>C r.(=) p.(=) - VUS g.79989018C>G g.80733519C>G - - BRWD3_000025 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1102G>C r.(?) p.(Val368Leu) - VUS g.79988980C>G g.80733481C>G BRWD3(NM_153252.5):c.1102G>C (p.V368L) - BRWD3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.1118A>G r.(?) p.(Asn373Ser) - likely benign, VUS g.79988964T>C g.80733465T>C BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser)) - BRWD3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1128-152T>G r.(=) p.(=) - VUS g.79985671A>C g.80730172A>C - - BRWD3_000024 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1131A>G r.(?) p.(Leu377=) - likely benign g.79985516T>C - BRWD3(NM_153252.4):c.1131A>G (p.L377=) - BRWD3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1307C>T r.(?) p.(Thr436Ile) - likely benign g.79984330G>A - BRWD3(NM_153252.4):c.1307C>T (p.T436I) - BRWD3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1500A>C r.(?) p.(Lys500Asn) - VUS g.79980453T>G g.80724954T>G BRWD3(NM_153252.4):c.1500A>C (p.K500N) - BRWD3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.1650+220A>G r.(=) p.(=) - VUS g.79979027T>C g.80723528T>C - - BRWD3_000021 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1685G>A r.(?) p.(Arg562His) - VUS g.79978252C>T g.80722753C>T - - BRWD3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1758T>A r.(?) p.(Pro586=) - likely benign g.79978179A>T - BRWD3(NM_153252.4):c.1758T>A (p.P586=) - BRWD3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2044+4_2044+7del r.spl? p.? - VUS g.79974984_79974987del - BRWD3(NM_153252.4):c.2044+4_2044+7delAGTA - BRWD3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2151G>A r.(?) p.(Arg717=) - likely benign g.79973152C>T g.80717653C>T BRWD3(NM_153252.4):c.2151G>A (p.R717=) - BRWD3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2165C>A r.(?) p.(Thr722Asn) - VUS g.79973138G>T - - - BRWD3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2187G>A r.(?) p.(Trp729*) - pathogenic g.79973116C>T - BRWD3(NM_153252.5):c.2187G>A (p.W729*) - BRWD3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.2325+5G>A r.spl? p.? - likely benign g.79971651C>T g.80716152C>T BRWD3(NM_153252.4):c.2325+5G>A (p.?), BRWD3(NM_153252.5):c.2325+5G>A - BRWD3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.2604A>G r.(?) p.(Leu868=) - likely benign g.79960294T>C - BRWD3(NM_153252.4):c.2604A>G (p.L868=) - BRWD3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2729G>C r.(?) p.(Gly910Ala) - VUS g.79959085C>G g.80703586C>G BRWD3(NM_153252.4):c.2729G>C (p.(Gly910Ala)) - BRWD3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2773C>T r.(?) p.(Pro925Ser) - VUS g.79959041G>A g.80703542G>A - - BRWD3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2784C>A r.(?) p.(Ile928=) - likely benign g.79959030G>T g.80703531G>T BRWD3(NM_153252.4):c.2784C>A (p.I928=) - BRWD3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2800C>T r.(?) p.(Arg934Ter) - likely pathogenic g.79959014G>A g.80703515G>A - - BRWD3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.3307G>T r.(?) p.(Glu1103Ter) - pathogenic g.79947606C>A g.80692107C>A BRWD3(NM_153252.4):c.3307G>T (p.E1103*) - BRWD3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3429A>G r.(?) p.(Arg1143=) - likely benign g.79947374T>C - BRWD3(NM_153252.4):c.3429A>G (p.R1143=) - BRWD3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 - c.3433G>A r.(?) p.(Glu1145Lys) - VUS g.79947370C>T g.80691871C>T 1 more item - BRWD3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+?/. 1 - c.3436G>T r.(?) p.(Glu1146*) ACMG likely pathogenic g.79947367C>A g.80691868C>A - - BRWD3_000088 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.3469C>T r.(?) p.(Leu1157Phe) - VUS g.79947334G>A g.80691835G>A BRWD3(NM_153252.4):c.3469C>T (p.(Leu1157Phe)) - BRWD3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.3481+136G>T r.(=) p.(=) - VUS g.79947186C>A g.80691687C>A - - BRWD3_000018 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.3482-4G>C r.spl? p.? - likely benign g.79946676C>G g.80691177C>G BRWD3(NM_153252.5):c.3482-4G>C - BRWD3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.3658T>C r.(?) p.(Phe1220Leu) - VUS g.79945536A>G g.80690037A>G - - BRWD3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.3791del r.(?) p.(Ser1264Ilefs*13) - likely pathogenic g.79945283del g.80689784del - - BRWD3_000092 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-/. 1 - c.3863= r.(=) p.(Arg1288=) - benign g.79943569T>C g.80688070T>C BRWD3(NM_153252.5):c.3863A>G (p.K1288R) - BRWD3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.3863A>G - p.(Lys1288Arg) - VUS g.79943569T>C g.80688070T>C - - BRWD3_000015 1 more item - - - Germline - - - - - Yu Sun
?/. 1 - c.3865-101_3865-98del r.(=) p.(=) - VUS g.79942619_79942622del g.80687120_80687123del - - BRWD3_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.3865-101_3865-96del r.(=) p.(=) - VUS g.79942599_79942604del g.80687100_80687105del - - BRWD3_000038 - - - - Germline - - - - - Yu Sun
?/. 1 - c.3865-99_3865-98del r.(=) p.(=) - VUS g.79942621_79942622del g.80687122_80687123del - - BRWD3_000014 - - - - Germline - - - - - Yu Sun
?/. 1 - c.3865-93_3865-92del r.(=) p.(=) - VUS g.79942599_79942600del g.80687100_80687101del - - BRWD3_000037 - - - - Germline - - - - - Yu Sun
+/. 1 - c.4067C>A r.(?) p.(Ser1356Ter) - pathogenic g.79940974G>T - BRWD3(NM_153252.4):c.4067C>A (p.S1356*) - BRWD3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 3 - c.4339C>T r.(?) p.(Arg1447Trp) - VUS g.79938022G>A g.80682523G>A BRWD3(NM_153252.4):c.4339C>T (p.R1447W), BRWD3(NM_153252.5):c.4339C>T (p.R1447W) - BRWD3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.4377A>G r.(?) p.(Leu1459=) - likely benign g.79937984T>C g.80682485T>C BRWD3(NM_153252.4):c.4377A>G (p.L1459=) - BRWD3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4394C>G r.(?) p.(Pro1465Arg) - VUS g.79937967G>C g.80682468G>C BRWD3(NM_153252.4):c.4394C>G (p.P1465R) - BRWD3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4471A>G r.(?) p.(Thr1491Ala) - likely benign g.79937520T>C g.80682021T>C BRWD3(NM_153252.4):c.4471A>G (p.T1491A) - BRWD3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.4585C>T r.(?) p.(Arg1529Ter) - likely pathogenic g.79936909G>A g.80681410G>A BRWD3(NM_153252.4):c.4585C>T (p.R1529*) - BRWD3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.4655-1G>T r.spl? p.? - likely pathogenic g.79932863C>A - - - BRWD3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 41 c.4786A>G r.(?) p.(Lys1596Glu) - VUS g.79932731T>C g.80677232T>C K1596E - BRWD3_000063 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 3 - c.5101G>A r.(?) p.(Gly1701Arg) - likely benign g.79932416C>T g.80676917C>T BRWD3(NM_153252.4):c.5101G>A (p.G1701R), BRWD3(NM_153252.5):c.5101G>A (p.G1701R) - BRWD3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.5130G>T r.(?) p.(Gly1710=) - likely benign g.79932387C>A g.80676888C>A BRWD3(NM_153252.4):c.5130G>T (p.G1710=) - BRWD3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5173C>T r.(?) p.(Arg1725Ter) - VUS g.79932344G>A g.80676845G>A - - BRWD3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.5174G>A r.(?) p.(Arg1725Gln) - VUS g.79932343C>T g.80676844C>T - - BRWD3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.5248A>T r.(?) p.(Arg1750Ter) - VUS g.79932269T>A g.80676770T>A - - BRWD3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.5263A>C r.(?) p.(Arg1755=) - likely benign g.79932254T>G - BRWD3(NM_153252.4):c.5263A>C (p.R1755=) - BRWD3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5292T>A r.(?) p.(Asp1764Glu) - likely benign g.79932225A>T g.80676726A>T BRWD3(NM_153252.4):c.5292T>A (p.D1764E) - BRWD3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*3850G>C r.(=) p.(=) - VUS g.79928258C>G g.80672759C>G - - BRWD3_000008 - - - - Germline - - - - - Yu Sun
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