Unique variants in gene DNA2

Information The variants shown are described using the NM_001080449.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
Legend  

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.68C>T r.(?) p.(Ala23Val) - likely benign g.70231554G>A g.68471797G>A DNA2(NM_001080449.2):c.68C>T (p.A23V) - DNA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 - c.74+4A>C r.spl p.? - pathogenic (recessive) g.70231544T>G g.68471787T>G - - DNA2_000008 Minigene assay indicates impaired splicing although low levels of normal splicing remain Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
?/. 1 - c.152C>T r.(?) p.Ala51Val ACMG VUS g.70229843G>A g.68470086G>A - - DNA2_000004 ACMG grading: PM2,BP4 - - rs773427416 Germline - - - - - Andreas Laner
-?/. 1 - c.194G>A r.(?) p.(Arg65His) - - g.70229801C>T - DNA2(NM_001080449.2):c.194G>A (p.(Arg65His)) - DNA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.357G>A r.(?) p.(Leu119=) - benign g.70227964C>T g.68468207C>T - - DNA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.461G>A r.(?) p.(Arg154His) - likely benign g.70225550C>T g.68465793C>T DNA2(NM_001080449.2):c.461G>A (p.(Arg154His)) - DNA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.653G>A r.(?) p.(Cys218Tyr) - likely benign g.70218927C>T g.68459170C>T DNA2(NM_001080449.2):c.653G>A (p.C218Y) - DNA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.720-4del r.spl? p.? - likely benign g.70210019del g.68450262del DNA2(NM_001080449.2):c.720-4del (p.?) - DNA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.720-4dup r.spl? p.? - benign g.70210019dup g.68450262dup DNA2(NM_001080449.2):c.720-4dupT - DNA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.775A>G r.(?) p.Met259Val ACMG VUS g.70209949T>C g.68450192T>C - - DNA2_000005 not regarded causative for phenotype in patient, no second variante in DNA2 detected - - - Germline - - - - - Andreas Laner
-?/. 1 - c.791G>A r.(?) p.(Ser264Asn) - likely benign g.70209933C>T g.68450176C>T DNA2(NM_001080449.2):c.791G>A (p.S264N) - DNA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.878A>T r.(?) p.(Lys293Met) - VUS g.70209846T>A g.68450089T>A - - DNA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1058-6dup r.(=) p.(=) - likely benign g.70204853dup g.68445096dup DNA2(NM_001080449.2):c.1058-6dupT - DNA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1465A>C r.(?) p.(Lys489Gln) - likely benign g.70196949T>G g.68437192T>G DNA2(NM_001080449.2):c.1465A>C (p.(Lys489Gln)) - DNA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC r.[=,1764_1873del] p.[=,Ser588Argfs*4] - pathogenic (recessive) g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 1 more item Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
+/. 1 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTCT r.[=,1764_1873del] p.[=,Ser588Argfs*4] - pathogenic (recessive) g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 1 more item Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
-?/. 2 - c.1796G>A r.(?) p.(Arg599His) - likely benign g.70192040C>T g.68432283C>T DNA2(NM_001080449.2):c.1796G>A (p.R599H) - DNA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1819C>G r.(?) p.(Leu607Val) - VUS g.70192017G>C g.68432260G>C - - DNA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1898C>T r.(?) p.(Ala633Val) - VUS g.70191704G>A g.68431947G>A DNA2(NM_001080449.2):c.1898C>T (p.A633V) - DNA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.1963A>G r.(?) p.(Thr655Ala) - pathogenic (recessive) g.70191639T>C g.68431882T>C - - DNA2_000007 - Journal: Tarnauskaite 2019 - - Germline yes - - - - David A. Parry
?/. 1 - c.1983C>T r.(?) p.(Leu661=) - VUS g.70191619G>A g.68431862G>A DNA2(NM_001080449.2):c.1983C>T (p.L661=) - DNA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2153G>T r.(?) p.(Cys718Phe) - likely benign g.70190248C>A g.68430491C>A DNA2(NM_001080449.2):c.2153G>T (p.(Cys718Phe)) - DNA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2272T>G r.(?) p.(Phe758Val) - likely benign g.70182584A>C g.68422827A>C - - DNA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2278A>G r.(?) p.(Ile760Val) - VUS g.70182578T>C g.68422821T>C DNA2(NM_001080449.2):c.2278A>G (p.(Ile760Val)) - DNA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2286T>G r.(?) p.(Asp762Glu) - VUS g.70182570A>C g.68422813A>C - - DNA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2697+2T>G r.spl? p.? - VUS g.70181980A>C g.68422223A>C DNA2(NM_001080449.2):c.2697+2T>G (p.?) - DNA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2713C>A r.(?) p.(Gln905Lys) - likely benign g.70179634G>T g.68419877G>T DNA2(NM_001080449.2):c.2713C>A (p.(Gln905Lys)) - DNA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 1 20i c.3114+6delc r.[2935_3114del; 2935_3116del; 2935_3121del; 2935_3134del; 2935_3136del] p.[Val979_Leu1038del; Val979Hisfs*2; Val979Ilefs*65; Val979Argfs*3; Val979Asnfs*60] - pathogenic g.70176460delg g.68416703delg p.(Val1065Ilefs*23) - DNA2_000001 1 more item PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - - - Fowzan Alkuraya
Legend