Full data view for gene DNA2

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

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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dbSNP ID     

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ID_report     

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-?/. - c.68C>T likely benign r.(?) p.(Ala23Val) Unknown g.70231554G>A - DNA2(NM_001080449.2):c.68C>T (p.A23V) - DNA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.74+4A>C pathogenic (recessive) r.spl p.? Maternal (confirmed) 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 - - 0 - DNA SEQ-NG-I - WES MOPD P3 Journal: Tarnauskaite 2019 - F no United States - - 0 - - 1 David A. Parry
+?/. - c.74+4A>C pathogenic (recessive) r.spl p.? Both (homozygous) 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 - - 0 - DNA SEQ-NG-I - WES MOPD P4 Journal: Tarnauskaite 2019 - M no India - - 0 - - 1 David A. Parry
?/. - c.152C>T ACMG: 3 r.(?) p.Ala51Val Unknown g.70229843G>A - - - DNA2_000004 ACMG grading: PM2,BP4 - - rs773427416 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
-/. - c.357G>A benign r.(?) p.(=) Unknown g.70227964C>T - - - DNA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461G>A likely benign r.(?) p.(Arg154His) Unknown g.70225550C>T - DNA2(NM_001080449.2):c.461G>A (p.(Arg154His)) - DNA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653G>A likely benign r.(?) p.(Cys218Tyr) Unknown g.70218927C>T - DNA2(NM_001080449.2):c.653G>A (p.C218Y) - DNA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.720-4del likely benign r.spl? p.? Unknown g.70210019del - DNA2(NM_001080449.2):c.720-4del (p.?) - DNA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.720-4dup benign r.spl? p.? Unknown g.70210019dup - DNA2(NM_001080449.2):c.720-4dupT - DNA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775A>G ACMG: 3 r.(?) p.Met259Val Unknown g.70209949T>C - - - DNA2_000005 not regarded causative for phenotype in patient, no second variante in DNA2 detected - - - Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
-?/. - c.791G>A likely benign r.(?) p.(Ser264Asn) Unknown g.70209933C>T - DNA2(NM_001080449.2):c.791G>A (p.S264N) - DNA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878A>T VUS r.(?) p.(Lys293Met) Unknown g.70209846T>A - - - DNA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058-6dup likely benign r.(=) p.(=) Unknown g.70204853dup - DNA2(NM_001080449.2):c.1058-6dupT - DNA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1465A>C likely benign r.(?) p.(Lys489Gln) Unknown g.70196949T>G - DNA2(NM_001080449.2):c.1465A>C (p.(Lys489Gln)) - chr10_004917 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4] Both (homozygous) g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 Alteration of splicing shown via minigene assay. This variant results in partial loss of splicing, but some normally spliced transcript remains. Journal: Tarnauskaite 2019 - - Germline yes - - 0 - DNA SEQ - - MOPD - Journal: Tarnauskaite 2019 - F - - - - 0 - - 1 David A. Parry
+/. 11i c.1764-38_1764-37insCAAGGTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTCT pathogenic (recessive) r.[=,1764_1873del] p.[=,Ser588Argfs*4] Both (homozygous) g.70192109_70192110ins[70192109_70192125inv;NC_000003.11:32545404_32545440inv] g.68432352_68432353insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG g.70192109_70192110insAGAAAAGTGGAGTGAAAGGCCTGCATTCCAGCTGCTCCTGGCTGTTTGACCTTG - DNA2_000006 Alteration of splicing shown via minigene assay. This variant results in partial loss of splicing, but some normally spliced transcript remains. Transcript analysis using RNA isolated from patient PBLs demonstrated similarly altered splicing. Journal: Tarnauskaite 2019 - - Germline yes - - 0 - DNA SEQ-NG-I - WES MOPD - Journal: Tarnauskaite 2019 - F yes Italy - - 0 - - 1 David A. Parry
-?/. - c.1796G>A likely benign r.(?) p.(Arg599His) Unknown g.70192040C>T - DNA2(NM_001080449.2):c.1796G>A (p.R599H) - DNA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1796G>A likely benign r.(?) p.(Arg599His) Unknown g.70192040C>T - DNA2(NM_001080449.2):c.1796G>A (p.R599H) - DNA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1819C>G VUS r.(?) p.(Leu607Val) Unknown g.70192017G>C - - - DNA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1963A>G pathogenic (recessive) r.(?) p.(Thr655Ala) Paternal (inferred) g.70191639T>C g.68431882T>C - - DNA2_000007 - Journal: Tarnauskaite 2019 - - Germline yes - - 0 - DNA SEQ-NG-I - WES MOPD P3 Journal: Tarnauskaite 2019 - F no United States - - 0 - - 1 David A. Parry
?/. - c.1983C>T VUS r.(?) p.(=) Unknown g.70191619G>A - DNA2(NM_001080449.2):c.1983C>T (p.L661=) - DNA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2153G>T likely benign r.(?) p.(Cys718Phe) Unknown g.70190248C>A - DNA2(NM_001080449.2):c.2153G>T (p.(Cys718Phe)) - DNA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2272T>G likely benign r.(?) p.(Phe758Val) Unknown g.70182584A>C - - - chr10_004916 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2278A>G VUS r.(?) p.(Ile760Val) Unknown g.70182578T>C - DNA2(NM_001080449.2):c.2278A>G (p.(Ile760Val)) - DNA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2286T>G VUS r.(?) p.(Asp762Glu) Unknown g.70182570A>C - - - chr10_004915 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2697+2T>G VUS r.spl? p.? Unknown g.70181980A>C - DNA2(NM_001080449.2):c.2697+2T>G (p.?) - chr10_004914 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 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] Both (homozygous) g.70176460delg g.68416703delg p.(Val1065Ilefs*23) - DNA2_000001 WB severely reduced DNA2 protein PubMed: Shaheen 2014, Journal: Shaheen 2014 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SCKL - PubMed: Shaheen 2014, Journal: Shaheen 2014 3-generation family, affected uncle (II5)/nephew (III1), unaffected carrier parents (2) and relatives (1) M yes Saudi Arabia Arab - 0 - - 5 Fowzan Alkuraya
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