Full data view for gene DNMT3A

Information The variants shown are described using the NM_022552.4 transcript reference sequence.

153 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-781G>T r.(?) p.(=) Unknown - VUS g.25565298C>A g.25342429C>A DNMT3A(NM_175629.2):c.-178+1G>T - DNMT3A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_23_ c.0 r.0 p.0 Unknown - pathogenic g.(23900000_24012152)_(25552894_25600000)del - - arr 2p23.3 (24,012,152–25,552,894)x1 dn DNMT3A_000002 de novo 1.5-Mb deletion 2p23.3 PubMed: Okamoto 2016, Journal: Okamoto 2016 - - De novo - - - - - DNA arrayCGH, FISH Peripheral Blood - TBRS 26866722-P1 PubMed: Okamoto 2016, Journal: Okamoto 2016 2 generation family, 1 affected (1M), unaffected non-carrier parents M no Japan - - - - - 1 Lynn Boekhoudt
?/. - c.56G>A r.(?) p.(Arg19Gln) Unknown - VUS g.25536798C>T - DNMT3A(NM_022552.5):c.56G>A (p.(Arg19Gln)), DNMT3A(NM_175629.2):c.56G>A (p.R19Q) - DNMT3A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56G>A r.(?) p.(Arg19Gln) Unknown - VUS g.25536798C>T - DNMT3A(NM_022552.5):c.56G>A (p.(Arg19Gln)), DNMT3A(NM_175629.2):c.56G>A (p.R19Q) - DNMT3A_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72+10G>A r.(=) p.(=) Unknown - likely benign g.25536772C>T g.25313903C>T DNMT3A(NM_022552.5):c.72+10G>A, DNMT3A(NM_175629.2):c.72+10G>A - DNMT3A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.72+10G>A r.(=) p.(=) Unknown - benign g.25536772C>T - DNMT3A(NM_022552.5):c.72+10G>A, DNMT3A(NM_175629.2):c.72+10G>A - DNMT3A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75C>T r.(?) p.(=) Unknown - likely benign g.25523110G>A - DNMT3A(NM_022552.5):c.75C>T (p.D25=) - DNMT3A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76G>A r.(?) p.(Gly26Arg) Unknown - likely benign g.25523109C>T - DNMT3A(NM_022552.5):c.76G>A (p.(Gly26Arg)) - DNMT3A_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>C r.(?) p.(Glu30Ala) Unknown - likely benign g.25523096T>G g.25300227T>G DNMT3A(NM_001320892.1):c.89A>C (p.(Glu30Ala)), DNMT3A(NM_175629.2):c.89A>C (p.E30A) - DNMT3A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89A>C r.(?) p.(Glu30Ala) Unknown - VUS g.25523096T>G g.25300227T>G DNMT3A(NM_001320892.1):c.89A>C (p.(Glu30Ala)), DNMT3A(NM_175629.2):c.89A>C (p.E30A) - DNMT3A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106G>A r.(?) p.(Glu36Lys) Unknown - likely benign g.25523079C>T - DNMT3A(NM_022552.4):c.106G>A (p.(Glu36Lys)) - DNMT3A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.120G>A r.(?) p.(=) Unknown - likely benign g.25523065C>T - DNMT3A(NM_022552.5):c.120G>A (p.E40=) - DNMT3A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.131C>T r.(?) p.(Thr44Met) Unknown - likely benign g.25523054G>A - DNMT3A(NM_022552.5):c.131C>T (p.(Thr44Met)) - DNMT3A_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172C>G r.(?) p.(Pro58Ala) Unknown - VUS g.25523013G>C - DNMT3A(NM_022552.4):c.172C>G (p.(Pro58Ala)) - DNMT3A_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176C>T r.(?) p.(Pro59Leu) Unknown - likely benign g.25523009G>A - DNMT3A(NM_022552.5):c.176C>T (p.(Pro59Leu)) - DNMT3A_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178-8A>G r.(=) p.(=) Unknown - likely benign g.25505588T>C - DNMT3A(NM_022552.5):c.178-8A>G - DNMT3A_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186C>T r.(?) p.(=) Unknown - likely benign g.25505572G>A - DNMT3A(NM_001320892.1):c.186C>T (p.(Ser62=)) - DNMT3A_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194C>T r.(?) p.(Thr65Met) Unknown - likely benign g.25505564G>A - DNMT3A(NM_022552.5):c.194C>T (p.(Thr65Met)) - DNMT3A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209C>T r.(?) p.(Ala70Val) Unknown - likely benign g.25505549G>A - DNMT3A(NM_022552.4):c.209C>T (p.(Ala70Val)) - DNMT3A_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337G>A r.(?) p.(Gly113Arg) Unknown - VUS g.25505421C>T - DNMT3A(NM_022552.5):c.337G>A (p.G113R) - DNMT3A_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.427C>T r.(?) p.(Arg143*) Unknown - likely pathogenic g.25505331G>A - - - DNMT3A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448+45A>G r.(=) p.(=) Unknown - likely benign g.25505265T>C - DNMT3A(NM_001320892.2):c.493A>G (p.(Ile165Val)) - DNMT3A_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.541C>T r.(?) p.(Arg181Cys) Unknown - likely pathogenic g.25497908G>A g.25275039G>A - - DNMT3A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553A>G r.(?) p.(Met185Val) Unknown - VUS g.25497896T>C - DNMT3A(NM_022552.5):c.553A>G (p.(Met185Val)) - DNMT3A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639+6G>A r.(=) p.(=) Unknown - likely benign g.25497804C>T - DNMT3A(NM_175629.2):c.639+6G>A - DNMT3A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640-3791G>A r.(=) p.(=) Unknown - likely benign g.25474912C>T - DNMT3A(NM_001320893.1):c.52G>A (p.G18R) - DNMT3A_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640-1431C>T r.(=) p.(=) Unknown - likely benign g.25472552G>A - DNMT3A(NM_153759.3):c.46C>T (p.(Arg16Cys)) - DNMT3A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640-1403T>G r.(=) p.(=) Unknown - likely benign g.25472524A>C - DNMT3A(NM_153759.3):c.72+2T>G (p.?) - DNMT3A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.759C>T r.(?) p.(=) Unknown - likely benign g.25471002G>A - DNMT3A(NM_022552.5):c.759C>T (p.(Pro253=)) - DNMT3A_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Ser267=) Unknown - likely benign g.25470960G>A g.25248091G>A DNMT3A(NM_001320893.1):c.345C>T (p.(Ser115=)), DNMT3A(NM_022552.5):c.801C>T (p.S267=), DNMT3A(NM_175629.2):c.801C>T (p.S267=) - DNMT3A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Ser267=) Unknown - likely benign g.25470960G>A - DNMT3A(NM_001320893.1):c.345C>T (p.(Ser115=)), DNMT3A(NM_022552.5):c.801C>T (p.S267=), DNMT3A(NM_175629.2):c.801C>T (p.S267=) - DNMT3A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801C>T r.(?) p.(Ser267=) Unknown - likely benign g.25470960G>A - DNMT3A(NM_001320893.1):c.345C>T (p.(Ser115=)), DNMT3A(NM_022552.5):c.801C>T (p.S267=), DNMT3A(NM_175629.2):c.801C>T (p.S267=) - DNMT3A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.855+1G>A r.(?) p.(?) Unknown - likely pathogenic g.25470905C>T - - - DNMT3A_000134 - - - rs772041639 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886G>A r.(?) p.(Val296Met) Unknown - VUS g.25470588C>T - - - DNMT3A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.889_891del r.(?) p.(Trp297del) Unknown - pathogenic g.25470584_25470586del g.25247715_25247717del 889_891delTGG (Trp297del) - DNMT3A_000003 inframe deletion PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases BsaXI- - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG0274-P1 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
+/. - c.890G>A r.(?) p.(Trp297Ter) Unknown - pathogenic g.25470584C>T g.25247715C>T - - DNMT3A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.901C>T r.(?) p.(Arg301Trp) Unknown - pathogenic g.25470573G>A - - - DNMT3A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.919C>T r.(?) p.(Pro307Ser) Unknown - likely pathogenic g.25470555G>A g.25247686G>A NM_175629.2:c.919C>T (Pro307Ser) - DNMT3A_000048 - - - - De novo - - - - - DNA SEQ-NG-I Blood Whole Exome Sequencing TBRS Patient 7 - - F no Spain white - - - - 1 Jair Antonio Tenorio
?/. - c.925del r.(?) p.(Arg309Alafs*7) Unknown - VUS g.25470550del - DNMT3A(NM_022552.5):c.925del (p.(Arg309Alafs*7)) - DNMT3A_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.926G>A r.(?) p.(Arg309His) Unknown - VUS g.25470548C>T - DNMT3A(NM_175629.2):c.926G>A (p.R309H) - DNMT3A_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.928A>T r.(?) p.(Ile310Phe) Unknown - likely pathogenic g.25470546T>A g.25247677T>A - - DNMT3A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.929T>A r.(?) p.(Ile310Asn) Unknown - pathogenic g.25470545A>T g.25247676A>T - - DNMT3A_000004 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases BsrDI+ - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG1770-P2 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
+/. 8 c.934_937dup r.(?) p.(Trp313Phefs*12) Unknown - pathogenic g.25470537_25470540dup g.25247668_25247671dup 934_937dupTCTT - DNMT3A_000005 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases - - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG1670-P3 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
+?/. 8 c.958C>T r.(?) p.(Arg320*) Unknown - likely pathogenic g.25470516G>A g.25247647G>A - - DNMT3A_000016 Mother non-carrier, father’s DNA not available PubMed: Tlemsani 2016, Journal: Tlemsani 2016 - - Germline/De novo (untested) - 1/210 cases BlpI+; BspCNI+; DdeI+ - - DNA SEQ, SEQ-NG Blood samples - ? 27317772-T57-P2 PubMed: Tlemsani 2016, Journal: Tlemsani 2016 2 generation family, 1 affected (1F), unaffected non-carrier mother, paternal DNA not available. F - France - - - - - 1 Lynn Boekhoudt
?/. - c.971G>T r.(?) p.(Gly324Val) Unknown - VUS g.25470503C>A - DNMT3A(NM_022552.4):c.971G>T (p.(Gly324Val)) - DNMT3A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980_983dup r.(?) p.(Met329Glyfs*15) Unknown - pathogenic g.25470492_25470495dup - DNMT3A(NM_022552.5):c.980_983dupGGGT (p.M329Gfs*15) - DNMT3A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993C>T r.(?) p.(=) Unknown - likely benign g.25470481G>A - DNMT3A(NM_022552.5):c.993C>T (p.F331=) - DNMT3A_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1034del r.(?) p.(Met345Serfs*3) Unknown - likely pathogenic g.25470008del - DNMT3A(NM_175629.2):c.1034delT (p.M345Sfs*3) - DNMT3A_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1055G>A r.(?) p.(Ser352Asn) Unknown - likely benign g.25469987C>T - DNMT3A(NM_175629.2):c.1055G>A (p.S352N) - DNMT3A_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1080_1082del r.(?) p.(Asn360del) Unknown - likely pathogenic g.25469964_25469966del - - - DNMT3A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1084C>T r.(?) p.(Gln362*) Maternal (confirmed) - likely pathogenic g.25469958G>A g.25247089G>A - - DNMT3A_000017 germline mosaicism in unaffected mother PubMed: Tlemsani 2016, Journal: Tlemsani 2016 - - Germline - 1/210 ApeKI-; BbvI-; Fnu4HI-; TseI- - - DNA SEQ, SEQ-NG Blood samples - ? 27317772-T214-P3 PubMed: Tlemsani 2016, Journal: Tlemsani 2016 2 generation family, 1 affected (1M), unaffected non-carrier parents. M - France - - - - - 1 Lynn Boekhoudt
+?/. 8 c.1094A>G r.(?) p.(Tyr365Cys) Unknown - likely pathogenic g.25469948T>C g.25247079T>C - - DNMT3A_000018 - PubMed: Tlemsani 2016, Journal: Tlemsani 2016 - - De novo - 1/210 - - - DNA SEQ, SEQ-NG Blood samples - ? 27317772-T144-P4 PubMed: Tlemsani 2016, Journal: Tlemsani 2016 2 generation family, 1 affected (1F), unaffected non-carrier parents. F - France - - - - - 1 Lynn Boekhoudt
+/. - c.1111del r.(?) p.(Glu371ArgfsTer36) Unknown - pathogenic g.25469931del - DNMT3A(NM_175629.2):c.1111delG (p.E371Rfs*36) - DNMT3A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1138G>A r.(?) p.(Ala380Thr) Unknown - VUS g.25469630C>T - DNMT3A(NM_175629.2):c.1138G>A (p.A380T) - DNMT3A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1155G>A r.(?) p.(=) Unknown - likely benign g.25469613C>T - DNMT3A(NM_022552.5):c.1155G>A (p.P385=) - DNMT3A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170C>T r.(?) p.(Ser390=) Unknown - likely benign g.25469598G>A g.25246729G>A DNMT3A(NM_175629.2):c.1170C>T (p.S390=) - DNMT3A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275A>C r.(?) p.(Pro425=) Unknown - likely benign g.25469493T>G g.25246624T>G DNMT3A(NM_175629.2):c.1275A>C (p.P425=) - DNMT3A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1296C>G r.(?) p.(Tyr432Ter) Unknown - VUS g.25469162G>C g.25246293G>C DNMT3A(NM_175629.2):c.1296C>G (p.?) - DNMT3A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1310C>T r.(?) p.(Thr437Met) Unknown - likely benign g.25469148G>A - DNMT3A(NM_022552.4):c.1310C>T (p.(Thr437Met)) - DNMT3A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386G>A r.(?) p.(Ala462=) Unknown - likely benign g.25469072C>T - DNMT3A(NM_175629.2):c.1386G>A (p.A462=) - DNMT3A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1430-13C>T r.(=) p.(=) Unknown - likely benign g.25468946G>A - DNMT3A(NM_022552.5):c.1430-13C>T - DNMT3A_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1481G>C r.(?) p.(Cys494Ser) Unknown - pathogenic (dominant) g.25468195C>G g.25245326C>G - - DNMT3A_000078 - - - - De novo - - - - - DNA SEQ-NG Blood - TBRS - - - M - - - - - - - 1 Javier Porta
-?/. - c.1502A>G r.(?) p.(Asn501Ser) Unknown - likely benign g.25468174T>C - DNMT3A(NM_022552.4):c.1502A>G (p.(Asn501Ser)), DNMT3A(NM_022552.5):c.1502A>G (p.N501S) - DNMT3A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1502A>G r.(?) p.(Asn501Ser) Unknown - likely benign g.25468174T>C - DNMT3A(NM_022552.4):c.1502A>G (p.(Asn501Ser)), DNMT3A(NM_022552.5):c.1502A>G (p.N501S) - DNMT3A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1554+9A>G r.(=) p.(=) Unknown - likely benign g.25468113T>C - DNMT3A(NM_022552.5):c.1554+9A>G - DNMT3A_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1555-13C>T r.(=) p.(=) Unknown - likely benign g.25467534G>A - DNMT3A(NM_022552.5):c.1555-13C>T - DNMT3A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1585G>A r.(?) p.(Asp529Asn) Unknown - likely pathogenic g.25467491C>T g.25244622C>T - - DNMT3A_000019 - PubMed: Tlemsani 2016, Journal: Tlemsani 2016 - - De novo - 1/210 cases - - - DNA SEQ, SEQ-NG Blood samples - ? 27317772-T94-P5 PubMed: Tlemsani 2016, Journal: Tlemsani 2016 2 generation family, 1 affected (1M), unaffected non-carrier parents. M - France - - - - - 1 Lynn Boekhoudt
-?/. - c.1587C>T r.(?) p.(=) Unknown - likely benign g.25467489G>A - DNMT3A(NM_022552.5):c.1587C>T (p.D529=) - DNMT3A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1594G>A r.(?) p.(Gly532Ser) Unknown - pathogenic g.25467482C>T g.25244613C>T - - DNMT3A_000006 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases AluI+; BceAI- - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG0141-P4 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
?/. - c.1594G>A r.(?) p.(Gly532Ser) Unknown - VUS g.25467482C>T - - - DNMT3A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1627G>A r.(1627g>a) p.(Gly543Ser) Unknown - likely pathogenic g.25467449C>T g.25244580C>T g.25463286 - DNMT3A_000045 - - - - Germline yes - - - - DNA SEQ-NG-I Blood Custom gene panel TBRS Patient 5 - - F no Spain white - - - - 1 Jair Antonio Tenorio
+/. 14 c.1643T>A r.(?) p.(Met548Lys) Unknown - pathogenic g.25467433A>T g.25244564A>T - - DNMT3A_000007 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases BpuEI+; SmlI+; CviAII-; FatI-; NlaIII- - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG0422-P5 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
+?/. - c.1643T>C r.(?) p.(Met548Thr) Unknown - likely pathogenic g.25467433A>G g.25244564A>G - - DNMT3A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1645T>C r.(?) p.(Cys549Arg) Unknown - pathogenic g.25467431A>G g.25244562A>G - - DNMT3A_000008 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases BstUI+; HhaI+; HinP1I+ - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG1288-P6 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
+?/. - c.1667+2T>G r.spl p.? Unknown - likely pathogenic g.25467407A>C g.25244538A>C - - DNMT3A_000047 variant not possible - - - Germline ? - - - - RNA SEQ-NG-I Blood Custom gene panel TBRS Patient 2 - - M no Spain white - - - - 1 Jair Antonio Tenorio
-?/. - c.1677C>T r.(?) p.(=) Unknown - likely benign g.25467198G>A - DNMT3A(NM_022552.5):c.1677C>T (p.C559=) - DNMT3A_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.1681G>T r.(?) p.(Glu561*) Unknown - pathogenic g.25467194C>A g.25244325C>A - - DNMT3A_000044 - - - - Germline yes - - - - DNA SEQ-NG-I Blood Custom gene panel TBRS Patient 6 - - M no Spain - - - - - 1 Jair Antonio Tenorio
?/. - c.1741T>C r.(?) p.(Trp581Arg) Unknown - VUS g.25467134A>G g.25244265A>G - - DNMT3A_000060 mother wt PubMed: Minardi 2020 - - Germline - - - - - DNA SEQ-NG-I - - EIEE - PubMed: Minardi 2020 - F - Italy - - - - - 1 Francesca Bisulli
+/. - c.1795G>T r.(?) p.(Glu599*) Unknown - pathogenic g.25467080C>A - DNMT3A(NM_175629.2):c.1795G>T (p.E599*) - DNMT3A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1803G>A r.(?) p.(Trp601*) Unknown - pathogenic g.25467072C>T - DNMT3A(NM_175629.2):c.1803G>A (p.W601*) - DNMT3A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1803G>A r.(?) p.(Trp601Ter) Unknown - pathogenic (dominant) g.25467072C>T g.25244203C>T - - DNMT3A_000067 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? COG0510 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
?/. - c.1852-3T>G r.spl? p.? Unknown - VUS g.25466854A>C - - - DNMT3A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1904G>A r.(?) p.(Arg635Gln) Unknown - likely pathogenic g.25466799C>T - - - DNMT3A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1907T>C r.(?) p.(Val636Ala) Unknown - likely pathogenic g.25466796A>G - DNMT3A(NM_022552.4):c.1907T>C (p.(Val636Ala)) - DNMT3A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1936+8G>A r.(=) p.(=) Unknown - likely benign g.25466759C>T g.25243890C>T DNMT3A(NM_022552.4):c.1936+8G>A (p.(=)) - DNMT3A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.1943T>C r.(?) p.(Leu648Pro) Unknown - pathogenic g.25464570A>G g.25241701A>G - - DNMT3A_000009 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases HpaII+; MspI+; NciI+; BstNI-; PspGI- - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG0553-P7 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
?/. - c.1974_1975dup r.(?) p.(Arg659ProfsTer47) Unknown - VUS g.25464538_25464539dup g.25241669_25241670dup DNMT3A(NM_175629.2):c.1975_1976insCC (p.?) - DNMT3A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1975dup r.(?) p.(Arg659Profs*9) Unknown - pathogenic g.25464539dup - DNMT3A(NM_022552.5):c.1975dupC (p.R659Pfs*9) - DNMT3A_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1976G>A r.(?) p.(Arg659His) Unknown - VUS g.25464537C>T g.25241668C>T - - DNMT3A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2062C>T r.(?) p.(Arg688Cys) Unknown - likely pathogenic g.25464451G>A - DNMT3A(NM_175629.2):c.2062C>T (p.R688C) - DNMT3A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2063G>A r.(?) p.(Arg688His) Unknown - likely pathogenic g.25464450C>T g.25241581C>T DNMT3A(NM_022552.4):c.2063G>A (p.(Arg688His)) - DNMT3A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2063G>A r.(?) p.(Arg688His) Unknown - VUS g.25464450C>T - DNMT3A(NM_022552.4):c.2063G>A (p.(Arg688His)) - DNMT3A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2074C>T r.(?) p.(Gln692Ter) Unknown - pathogenic g.25464439G>A - - - DNMT3A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2099C>T r.(?) p.(Pro700Leu) Unknown - pathogenic g.25463583G>A g.25240714G>A - - DNMT3A_000010 - PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 - - De novo - 1/152 cases ApaI-; BaeGI-; BanII-; Bsp1286I-; PspOMI- - - DNA SEQ, SEQ-NG Peripheral Blood - ? 24614070-COG1688-P8 PubMed: Tatton-Brown 2014, Journal: Tatton-Brown 2014, PubMed: Tatton-Brown 2017 2 generation family, 1 affected individual, unaffected non-carrier parents. - - United Kingdom (Great Britain) - - - - - 1 Lynn Boekhoudt
+?/. - c.2141C>G r.(?) p.(Ser714Cys) Unknown - likely pathogenic g.25463541G>C g.25240672G>C - - DNMT3A_000041 - - - - Somatic - - - - - DNA SEQ-NG Brain tissue gene panel cancer patient8 - - F ? - - - - - - 1 Lisa-Marie Niestroj
+/. - c.2141C>G r.(?) p.(Ser714Cys) Unknown - pathogenic (dominant) g.25463541G>C g.25240672G>C - - DNMT3A_000041 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ - - ? COG0316 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-/. - c.2151C>T r.(?) p.(Asn717=) Unknown - benign g.25463531G>A - DNMT3A(NM_001320893.1):c.1695C>T (p.(Asn565=)), DNMT3A(NM_022552.5):c.2151C>T (p.N717=) - DNMT3A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2151C>T r.(?) p.(Asn717=) Unknown - likely benign g.25463531G>A - DNMT3A(NM_001320893.1):c.1695C>T (p.(Asn565=)), DNMT3A(NM_022552.5):c.2151C>T (p.N717=) - DNMT3A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2158C>T r.(?) p.(Arg720Cys) Unknown - VUS g.25463524G>A - DNMT3A(NM_022552.4):c.2158C>T (p.(Arg720Cys)) - DNMT3A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2171_2172del r.(?) p.(Tyr724*) Unknown - pathogenic g.25463510_25463511del - DNMT3A(NM_175629.2):c.2171_2172delAC (p.Y724*) - DNMT3A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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