Unique variants in the AARS2 gene

Information The variants shown are described using the NM_020745.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.221T>A r.(?) p.(Phe74Tyr) - VUS g.44280840A>T - AARS2(NM_020745.3):c.221T>A (p.F74Y) - AARS2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 1i c.243+6G>A r.(=) p.(=) - benign g.44280812C>T g.44313075C>T - - AARS2_000001 - - - rs167772 Germline - - - - - Andreas Laner
-?/. 1 - c.267C>T r.(?) p.(Thr89=) - likely benign g.44279977G>A - AARS2(NM_020745.3):c.267C>T (p.T89=) - AARS2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 2i c.436-37G>A r.(=) p.(=) - benign g.44279309C>T g.44311572C>T - - AARS2_000007 - - - rs41282672 Germline - - - - - Andreas Laner
-/. 1 3i c.581+16T>C r.(=) p.(=) - benign g.44279111A>G g.44311374A>G - - AARS2_000006 - - - rs9688508 Germline - - - - - Andreas Laner
?/. 1 - c.595C>T r.(?) p.(Arg199Cys) - VUS g.44278885G>A g.44311148G>A AARS2(NM_020745.3):c.595C>T (p.R199C) - AARS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.647dup r.(?) p.(Cys218Leufs*6), p.(Cys218LeufsTer6) - likely pathogenic, pathogenic (recessive) g.44278834dup g.44311097dup 647_648insG, AARS2(NM_020745.3):c.647dupG (p.C218Lfs*6) - AARS2_000043 VKGL data sharing initiative Nederland PubMed: Taylor 2014 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.678C>T r.(?) p.(Tyr226=) - likely benign g.44278802G>A - AARS2(NM_020745.3):c.678C>T (p.Y226=) - AARS2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.806G>A r.(?) p.(Gly269Asp) - VUS g.44278124C>T - AARS2(NM_020745.3):c.806G>A (p.G269D) - AARS2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.843C>T r.(?) p.(His281=) - likely benign g.44278087G>A - AARS2(NM_020745.3):c.843C>T (p.H281=) - AARS2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 5i c.895-64C>A r.(=) p.(=) - benign g.44275195G>T g.44307458G>T - - AARS2_000005 found in patient with homozygous pathogenic mutation c.1774C>T; p.Arg592Trp - - rs41282670 Germline - - - - - Andreas Laner
?/. 1 - c.967G>A r.(?) p.(Val323Met) - VUS g.44275059C>T - AARS2(NM_020745.3):c.967G>A (p.V323M) - AARS2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1015= r.(=) p.(Val339=) - benign g.44275011T>C g.44307274T>C AARS2(NM_020745.3):c.1015A>G (p.I339V) - AARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 6 c.1015A>G r.(?) p.(Ile339Val) - benign g.44275011T>C g.44307274T>C - - AARS2_000004 - - - rs324136 Germline - - - - - Andreas Laner
?/. 1 - c.1040+1G>A r.spl? p.? - VUS g.44274985C>T g.44307248C>T AARS2(NM_020745.3):c.1040+1G>A (p.?) - AARS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 6i c.1041-29A>G r.(=) p.(=) - benign g.44274797T>C g.44307060T>C - - AARS2_000003 - - - rs7740535 Germline - - - - - Andreas Laner
?/. 1 - c.1100C>A r.(?) p.(Ala367Glu) - VUS g.44274709G>T g.44306972G>T - - AARS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1398C>T r.(?) p.(Ser466=) - likely benign g.44273426G>A g.44305689G>A AARS2(NM_020745.3):c.1398C>T (p.S466=) - AARS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1434+1del r.spl? p.? - likely pathogenic g.44273390del - AARS2(NM_020745.3):c.1434+1delG - AARS2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1462C>G r.(?) p.(Gln488Glu) - likely benign g.44272908G>C g.44305171G>C AARS2(NM_020745.3):c.1462C>G (p.(Gln488Glu)) - AARS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1534G>C r.(?) p.(Asp512His) - VUS g.44272836C>G g.44305099C>G AARS2(NM_020745.3):c.1534G>C (p.D512H) - AARS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1579+1G>T r.spl? p.? - pathogenic g.44272790C>A g.44305053C>A AARS2(NM_020745.3):c.1579+1G>T - AARS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1616A>G r.(?) p.(Tyr539Cys) - pathogenic (recessive) g.44272518T>C g.44304781T>C - - AARS2_000042 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1621G>A r.(?) p.(Glu541Lys) - VUS g.44272513C>T g.44304776C>T AARS2(NM_020745.3):c.1621G>A (p.E541K) - AARS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1643C>T r.(?) p.(Ser548Phe) - likely benign g.44272491G>A g.44304754G>A AARS2(NM_020745.3):c.1643C>T (p.(Ser548Phe)) - AARS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1649G>C r.(?) p.(Gly550Ala) - likely benign g.44272485C>G g.44304748C>G AARS2(NM_020745.3):c.1649G>C (p.G550A) - AARS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1661G>A r.(?) p.(Arg554His) - likely benign g.44272473C>T - AARS2(NM_020745.3):c.1661G>A (p.R554H) - AARS2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1738C>T r.(?) p.(Arg580Trp) - likely pathogenic g.44272396G>A g.44304659G>A - - AARS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1739G>A r.(?) p.(Arg580Gln) - VUS g.44272395C>T g.44304658C>T AARS2(NM_020745.3):c.1739G>A (p.(Arg580Gln)) - AARS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1752G>A r.(?) p.(Glu584=) - likely benign g.44272382C>T g.44304645C>T AARS2(NM_020745.3):c.1752G>A (p.(=)) - AARS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 12i c.1753-54G>T r.(=) p.(=) - benign g.44272324C>A g.44304587C>A - - AARS2_000002 found in patient with homozygous pathogenic mutation c.1774C>T; p.Arg592Trp; - - rs74964556 Germline - - - - - Andreas Laner
-/. 1 12i c.1753-14C>G r.(=) p.(=) - benign g.44272284G>C g.44304547G>C - - AARS2_000013 - - - rs74950428 Germline - Frequency up to 17% - - - Andreas Laner
+/., +?/. 9 13 c.1774C>T r.(?) p.(Arg592Trp), p.Arg592Trp ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.44272249G>A g.44304512G>A - - AARS2_000012 ACMG grading: PM3,PM2,PP3,PP5; no second variant deteced in AARS, found homozygous; homozygous PubMed: Taylor 2014 - rs138119149 Germline - - - - - Johan den Dunnen, Andreas Laner, Rick Kamps
?/. 1 - c.2005C>A r.(?) p.(Gln669Lys) - VUS g.44271920G>T g.44304183G>T AARS2(NM_020745.3):c.2005C>A (p.(Gln669Lys)) - AARS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2007+8C>T r.(=) p.(=) - benign g.44271910G>A g.44304173G>A AARS2(NM_020745.3):c.2007+8C>T - AARS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2027A>C r.(?) p.(Gln676Pro) - likely pathogenic g.44271141T>G g.44303404T>G - - AARS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2036C>T r.(?) p.(Ala679Val) - likely benign g.44271132G>A g.44303395G>A AARS2(NM_020745.3):c.2036C>T (p.A679V) - AARS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 15i c.2146-24G>A r.(=) p.(=) - benign g.44270936C>T g.44303199C>T - - AARS2_000011 - - - rs325001 Germline - - - - - Andreas Laner
+?/., ?/. 2 - c.2162T>C r.(?) p.(Val721Ala) - likely pathogenic, VUS g.44270896A>G g.44303159A>G AARS2(NM_020745.3):c.2162T>C (p.V721A) - AARS2_000038 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs775065697 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.2164C>T r.(?) p.(Arg722Trp) - VUS g.44270894G>A - AARS2(NM_020745.3):c.2164C>T (p.R722W) - AARS2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 16 c.2188G>A r.(?) p.(Val730Met) - benign, likely benign g.44270870C>T g.44303133C>T - - AARS2_000010 1 homozygous; Clinindb (India), 48 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs35623954 Germline - 1/2795 individuals, 48/2795 individuals - - - Andreas Laner, Mohammed Faruq
-?/. 2 - c.2253G>A r.(?) p.(Gly751=) - likely benign g.44270805C>T g.44303068C>T AARS2(NM_020745.3):c.2253G>A (p.G751=, p.(=)) - AARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 16i c.2255+35C>A r.(=) p.(=) - benign g.44270768G>T g.44303031G>T - - AARS2_000009 - - - rs325002 Germline - - - - - Andreas Laner
?/. 1 - c.2551C>G r.(?) p.(Leu851Val) - VUS g.44269844G>C - AARS2(NM_020745.3):c.2551C>G (p.L851V) - TCTE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2579G>A r.(?) p.(Arg860His) - VUS g.44269816C>T g.44302079C>T AARS2(NM_020745.3):c.2579G>A (p.R860H) - TCTE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 20 c.2607G>A r.(=) p.(=) - benign g.44269193C>T g.44301456C>T - - AARS2_000008 - - - rs498512 Germline - - - - - Andreas Laner
-?/. 1 - c.2629C>T r.(?) p.(Arg877Trp) - likely benign g.44269171G>A g.44301434G>A - - TCTE1_000001 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112247130 Germline - 2/2794 individuals - - - Mohammed Faruq
-?/. 1 - c.2682+10A>T r.(=) p.(=) - likely benign g.44269108T>A g.44301371T>A AARS2(NM_020745.3):c.2682+10A>T - TCTE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 20i c.2683-20A>G r.(=) p.(=) - benign g.44269023T>C g.44301286T>C AARS2(NM_020745.3):c.2683-20A>G - AARS2_000014 VKGL data sharing initiative Nederland - - rs325007 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Groningen
-?/. 1 - c.2716C>G r.(?) p.(Gln906Glu) - likely benign g.44268970G>C g.44301233G>C AARS2(NM_020745.3):c.2716C>G (p.(Gln906Glu)) - AARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 21 c.2871A>G r.(=), r.(?) p.(=), p.(Ser957=) - benign g.44268371T>C g.44300634T>C AARS2(NM_020745.3):c.2871A>G (p.S957=) - AARS2_000015 VKGL data sharing initiative Nederland - - rs325008 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Groningen
+/. 1 - c.2882C>T r.(?) p.(Ala961Val) - pathogenic (recessive) g.44268360G>A g.44300623G>A - - AARS2_000041 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen
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