Full data view for gene DBT

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

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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-?/. - c.-17G>C r.(?) p.(=) Unknown - likely benign g.100715393C>G g.100249837C>G DBT(NM_001918.5):c.-17G>C - DBT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.16A>T r.(?) p.(Met6Leu) Unknown - likely benign g.100715361T>A g.100249805T>A DBT(NM_001918.3):c.16A>T (p.M6L) - DBT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.30G>A r.(?) p.(Trp10Ter) Both (homozygous) - pathogenic (recessive) g.100715347C>T g.100249791C>T - - DBT_000059 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - - Germline - 2/66 alleles MSUD - - - DNA SEQ - - MSUD Pat32 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Cys26Trpfs*2) Both (homozygous) ACMG pathogenic (recessive) g.100706416_100706417del g.100240860_100240861del - - DBT_000037 This variant that is responsible of 'Maple syrup urine disease, type II', was identified in co-occurrence with the ABCA4 homozygous pathogenic variant NM_000350.3:c.2453G>A, p.p.Gly818Glu, causing ABCA4-related disorder; Imtiaz 2017:28417071, Hjelm 2010:20639189, Rodríguez-Pombo 2006:16786533 - ClinVar-11950 rs768832921 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD1A 3bINP-069 PubMed: Vela-Amieva 2024 Likely consanguinity. Co-occurrence of two different monogenic diseases. M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 2 c.75_76del r.(?) p.(Cys26Trpfs*2) Both (homozygous) ACMG pathogenic (recessive) g.100706416_100706417del g.100240860_100240861del - - DBT_000037 Imtiaz 2017:28417071, Hjelm 2010:20639189, Rodríguez-Pombo 2006:16786533 - ClinVar-11950 rs768832921 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD2 3bINP-092 PubMed: Vela-Amieva 2024 Familial case (sister affected: died at 01m) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 2 c.75_76del r.(?) p.(Cys26TrpfsTer2) Parent #1 - pathogenic (recessive) g.100706416_100706417del g.100240860_100240861del 75_76delAT - DBT_000037 - PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud004 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Cys26TrpfsTer2) Parent #1 - pathogenic (recessive) g.100706416_100706417del g.100240860_100240861del 75_76delAT - DBT_000037 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat30 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 1 Johan den Dunnen
+/. 2i c.176-1G>A r.176_189del p.Ala59GlyfsTer14 Both (homozygous) - pathogenic (recessive) g.100701068C>T g.100235512C>T IVS3-1G>A - DBT_000048 - PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MSUD Pat5 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.204del r.(?) p.(Lys68Asnfs*12) Unknown - pathogenic g.100701039del - - - DBT_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.241_242del r.(?) p.(Val81Ter) Both (homozygous) - pathogenic (recessive) g.100701002_100701003del g.100235446_100235447del 241_242delGT - DBT_000058 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - - Germline - 2/66 alleles MSUD - - - DNA SEQ - - MSUD Pat33 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
-?/. - c.251+19dup r.(=) p.(=) Unknown - likely benign g.100700978dup g.100235422dup DBT(NM_001918.5):c.251+19dupA - DBT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.263_265del r.(?) p.(Glu88del) Both (homozygous) ACMG likely pathogenic (recessive) g.100696460_100696462del g.100230904_100230906del - - DBT_000041 This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). Nguyen et al 2020 reported a Vietnamese pediatric patient with maple sirup who presents this same variant in homozygous state (PMID:32515140). In silico analysis shows that the microdeletion occurs in the functional domain PLN02528 (2-oxoisovalerate dehydrogenase E2 component). The MutPred-indel program predicts it as deleterious: sp P11182 ODB2_HUMAN Lipoamide acyltransferase component: 0.7621 (>0.5 = deleterious) NA - The CADD program predicts it as also as deleterious: 21.0 (score "threshold" for deleterious >20). The Glu at position 88 of the DBT protein is evolutionarily conserved from human to C.elegans; Adhikari 2020:32778825, - ClinVar-527136 rs1217050849 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD1A 3bINP-104 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 4 c.294C>G r.294C>G p.Ile98Met Parent #1 - pathogenic (recessive) g.100696428G>C g.100230872G>C 309C>G (I37M) - DBT_000047 0.09 decarboxylation activity PubMed: Tsurata 1998, Journal: Tsurata 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MSUD KM05 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
-/. - c.327C>T r.(?) p.(=) Unknown - benign g.100696395G>A g.100230839G>A DBT(NM_001918.3):c.327C>T (p.T109=), DBT(NM_001918.5):c.327C>T (p.T109=) - DBT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327C>T r.(?) p.(=) Unknown - likely benign g.100696395G>A g.100230839G>A DBT(NM_001918.3):c.327C>T (p.T109=), DBT(NM_001918.5):c.327C>T (p.T109=) - DBT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327C>T r.(?) p.(=) Unknown - likely benign g.100696395G>A g.100230839G>A DBT(NM_001918.3):c.327C>T (p.T109=), DBT(NM_001918.5):c.327C>T (p.T109=) - DBT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.342T>A r.(?) p.(Tyr114*) Unknown - pathogenic g.100696380A>T g.100230824A>T DBT(NM_001918.3):c.342T>A (p.Y114*) - DBT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.434-15_434-4del r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.100684307_100684318del g.100218751_100218762del - - DBT_000036 Confirmed by Sanger sequencing. Another patient (with the same phenotype) showed the same variant in heterozygous state; Sajeev 2021:34069211, Chuang 1997:9239422 - ClinVar-166983 rs727503895 Germline yes 2/97 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD2 3bINP-027 PubMed: Vela-Amieva 2024 Familial case (sister affected: died at 05m) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 6 c.434-15_434-4del r.spl? p.? Parent #2 ACMG pathogenic (recessive) g.100684307_100684318del g.100218751_100218762del - - DBT_000036 another patient (same phenotype) showed same variant in homozygous state PubMed: Vela-Amieva 2024 ClinVar-166983 rs727503895 Germline yes 2/97 patients - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD2 3bINP-081 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 6 c.670G>T r.(?) p.(Glu224*) Parent #1 ACMG pathogenic (recessive) g.100681641C>A g.100216085C>A - - DBT_000040 Khalifa 2020:32812330, Rodríguez-Pombo 2006:16786533, Homanics 2006:16579849 PubMed: Vela-Amieva 2024 ClinVar-94009 rs74103423 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD2 3bINP-081 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 6 c.670G>T r.(?) p.(Glu224Ter) Both (homozygous) - pathogenic (recessive) g.100681641C>A g.100216085C>A - - DBT_000040 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs74103423 Germline - 8/66 alleles MSUD - - - DNA SEQ - - MSUD Pat28 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 6 c.670G>T r.(?) p.(Glu224Ter) Both (homozygous) - pathogenic (recessive) g.100681641C>A g.100216085C>A - - DBT_000040 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs74103423 Germline - 8/66 alleles MSUD - - - DNA SEQ - - MSUD Pat29 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 6 c.670G>T r.(?) p.(Glu224Ter) Both (homozygous) - pathogenic (recessive) g.100681641C>A g.100216085C>A - - DBT_000040 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs74103423 Germline - 8/66 alleles MSUD - - - DNA SEQ - - MSUD Pat30 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 6 c.670G>T r.(?) p.(Glu224Ter) Both (homozygous) - pathogenic (recessive) g.100681641C>A g.100216085C>A - - DBT_000040 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs74103423 Germline - 8/66 alleles MSUD - - - DNA SEQ - - MSUD Pat31 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
-/. - c.715A>G r.(?) p.(Ile239Val) Unknown - benign g.100681596T>C g.100216040T>C DBT(NM_001918.5):c.715A>G (p.I239V) - DBT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724T>C r.(?) p.(Ser242Pro) Unknown - benign g.100681587A>G g.100216031A>G DBT(NM_001918.3):c.724T>C (p.S242P), DBT(NM_001918.5):c.724T>C (p.S242P) - DBT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724T>C r.(?) p.(Ser242Pro) Unknown - benign g.100681587A>G g.100216031A>G DBT(NM_001918.3):c.724T>C (p.S242P), DBT(NM_001918.5):c.724T>C (p.S242P) - DBT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724T>C r.(?) p.(Ser242Pro) Parent #1 - likely benign g.100681587A>G g.100216031A>G - - DBT_000014 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146249007 Germline - 21/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
+/. 6 c.747_773del r.(?) p.(Lys250_Gly258del) Both (homozygous) - pathogenic (recessive) g.100680543_100681568del g.100214987_100216012del - - DBT_000057 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat9 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 1 Johan den Dunnen
-/. - c.753C>T r.(?) p.(=) Unknown - benign g.100681558G>A g.100216002G>A DBT(NM_001918.3):c.753C>T (p.D251=), DBT(NM_001918.5):c.753C>T (p.D251=) - DBT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>T r.(?) p.(=) Unknown - likely benign g.100681558G>A g.100216002G>A DBT(NM_001918.3):c.753C>T (p.D251=), DBT(NM_001918.5):c.753C>T (p.D251=) - DBT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.772+1G>A r.spl? p.? Unknown - likely pathogenic g.100681538C>T - DBT(NM_001918.3):c.772+1G>A - DBT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.787A>T r.(?) p.(Met263Leu) Both (homozygous) - pathogenic (recessive) g.100680525T>A g.100214969T>A - - DBT_000056 - Journal: Jaradat 2016 - - Germline - - - - - DNA SEQ - - MSUD Pat5 Journal: Jaradat 2016 2-generation family, affected (sister/brother), unaffected heterozygous carrier parents F yes Jordan - - - - - 2 Johan den Dunnen
+?/. - c.827T>G r.(?) p.(Phe276Cys) Unknown - likely pathogenic g.100680485A>C g.100214929A>C DBT(NM_001918.3):c.827T>G (p.F276C) - DBT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.827T>G r.(?) p.(Phe276Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.100680485A>C g.100214929A>C - - DBT_000013 - PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat3 PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.827T>G r.(?) p.(Phe276Cys) Parent #2 - pathogenic (recessive) g.100680485A>C g.100214929A>C - - DBT_000013 - PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud004 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.872G>A r.(?) p.(Arg291Gln) Unknown - VUS g.100680440C>T g.100214884C>T DBT(NM_001918.5):c.872G>A (p.R291Q) - DBT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899C>T r.(?) p.(Ala300Val) Unknown - likely benign g.100680413G>A - DBT(NM_001918.3):c.899C>T (p.(Ala300Val)) - DBT_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.920T>C r.(?) p.(Phe307Ser) Parent #2 - pathogenic (recessive) g.100680392A>G g.100214836A>G - - DBT_000055 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - - Germline - - - - - DNA SEQ - - MSUD Pat30 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 1 Johan den Dunnen
+/. 7i c.940-1G>A r.940_1017del p.Ala315_Ala340del Both (homozygous) - pathogenic (recessive) g.100676328C>T g.100210772C>T - - DBT_000054 enzyme activity 0.03 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MSUD msud005 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.963G>C r.(?) p.(Gln321His) Unknown - VUS g.100676304C>G g.100210748C>G DBT(NM_001918.3):c.963G>C (p.(Gln321His)) - DBT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.972C>T r.(?) p.(Phe324=) Unknown - benign g.41928652C>T g.41422747C>T - - BCKDHA_000018 - Journal: Jaradat 2016 - rs284652 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
-/. - c.995+26C>T r.(?) p.(=) Unknown - benign g.41928701C>T g.41422796C>T - - BCKDHA_000053 - Journal: Jaradat 2016 - rs284653 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
-/. - c.995+49G>A r.(?) p.(=) Unknown - benign g.41928724G>A g.41422819G>A - - DBT_000001 - Journal: Jaradat 2016 - rs284654 Germline - - - - - DNA SEQ - - Healthy/Control - Journal: Jaradat 2016 control - - Jordan - - - - - 1 Johan den Dunnen
+/. 8i c.1018-550A>G r.1017_1018ins1018-676_1018-551 p.fs* Paternal (confirmed) - pathogenic (recessive) g.100672742T>C g.100207186T>C - - DBT_000045 variant causes allelic expression imbalance PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? Pat3 PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
+/. 8i c.1018-550A>G r.1017_1018ins1018-676_1018-551 p.Ala340TyrfsTer5 Both (homozygous) - pathogenic (recessive) g.100672742T>C g.100207186T>C - - DBT_000045 0.09 decarboxylation activity PubMed: Tsurata 1998, Journal: Tsurata 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MSUD KM03 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - - - - 1 Johan den Dunnen
+/. 9 c.1057G>A r.(?) p.(Gly353Ser) Both (homozygous) - pathogenic (recessive) g.100672153C>T g.100206597C>T - - DBT_000053 - Journal: Jaradat 2016 - rs578139656 Germline - - - - - DNA SEQ - - MSUD Pat6 Journal: Jaradat 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F yes Jordan - - - - - 2 Johan den Dunnen
?/. - c.1100T>A r.(?) p.(Ile367Lys) Unknown - VUS g.100672110A>T - DBT(NM_001918.3):c.1100T>A (p.I367K) - DBT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132C>T r.(?) p.(Gln378Ter) Both (homozygous) - likely pathogenic g.100672078G>A g.100206522G>A - - DBT_000042 - PubMed: Wang 2019 - - Germline - 2/2 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 2 Johan den Dunnen
-/. - c.1150A>G r.(?) p.(Ser384Gly) Unknown - benign g.100672060T>C g.100206504T>C DBT(NM_001918.3):c.1150A>G (p.S384G), DBT(NM_001918.5):c.1150A>G (p.S384G) - DBT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1150A>G r.(?) p.(Ser384Gly) Unknown - benign g.100672060T>C g.100206504T>C DBT(NM_001918.3):c.1150A>G (p.S384G), DBT(NM_001918.5):c.1150A>G (p.S384G) - DBT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1150A>G r.(?) p.(Ser384Gly) Unknown - benign g.100672060T>C g.100206504T>C DBT(NM_001918.3):c.1150A>G (p.S384G), DBT(NM_001918.5):c.1150A>G (p.S384G) - DBT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1150A>G r.1150A>G p.Ser384Gly Parent #2 - benign (!) g.100672060T>C g.100206504T>C 1165G>A (G323S) - DBT_000028 variant originally reported as pathogenic PubMed: Tsurata 1998, Journal: Tsurata 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MSUD KM05 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
-?/. 9 c.1150A>G r.(?) p.(Ser384Gly) Unknown - likely benign g.100672060T>C g.100206504T>C 1150G>A (G384S) - DBT_000028 enzyme activity <0.05 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud007 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - 1 Johan den Dunnen
-?/. 9 c.1150A>G r.(?) p.(Ser384Gly) Both (homozygous) - likely benign g.100672060T>C g.100206504T>C 1151G>A (G384S) - DBT_000028 enzyme activity <0.05 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud011 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - 1 Johan den Dunnen
-/. - c.1150A>G r.(?) p.(Ser384Gly) Unknown - benign g.100672060T>C g.100206504T>C 1150G>A (Gly384Ser) - DBT_000028 - PubMed: Flaschker 2007, Journal: Flaschker 2007 - rs12021720 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1210-10del r.(=) p.(=) Unknown - likely benign g.100671879del g.100206323del DBT(NM_001918.3):c.1210-10delT, DBT(NM_001918.5):c.1210-10delT - DBT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1210-10del r.(=) p.(=) Unknown - benign g.100671879del g.100206323del DBT(NM_001918.3):c.1210-10delT, DBT(NM_001918.5):c.1210-10delT - DBT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-10dup r.(=) p.(=) Unknown - likely benign g.100671879dup g.100206323dup DBT(NM_001918.5):c.1210-10dupT - DBT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1210-10T>A r.(=) p.(=) Unknown - benign g.100671867A>T g.100206311A>T DBT(NM_001918.3):c.1210-10T>A, DBT(NM_001918.5):c.1210-10T>A - DBT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1210-10T>A r.(=) p.(=) Unknown - benign g.100671867A>T g.100206311A>T DBT(NM_001918.3):c.1210-10T>A, DBT(NM_001918.5):c.1210-10T>A - DBT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1210-9A>T r.(=) p.(=) Unknown - benign g.100671866T>A g.100206310T>A DBT(NM_001918.5):c.1210-9A>T - DBT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1210-9_1210-8insT r.(=) p.(=) Unknown - benign g.100671865_100671866insA g.100206309_100206310insA DBT(NM_001918.3):c.1210-9_1210-8insT, DBT(NM_001918.5):c.1210-9_1210-8insT - DBT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1210-9_1210-8insT r.(=) p.(=) Unknown - benign g.100671865_100671866insA g.100206309_100206310insA DBT(NM_001918.3):c.1210-9_1210-8insT, DBT(NM_001918.5):c.1210-9_1210-8insT - DBT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-4del r.spl? p.? Unknown - likely benign g.100671866del g.100206310del DBT(NM_001918.5):c.1210-4delA - DBT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210-3T>A r.spl? p.? Both (homozygous) ACMG VUS g.100671860A>T g.100206304A>T - - DBT_000039 Additional phenotype information, segregation information and/or functional analysis may provide further evidence to reclassify the variant. - ClinVar-1906704 - Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD2 3bINP-076 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
?/. 10 c.1261G>T r.(?) p.(Gly421Trp) Both (homozygous) ACMG VUS g.100671806C>A g.100206250C>A - - DBT_000038 Additional phenotype information, segregation information and/or functional analysis may provide further evidence to reclassify the variant; Adhikari 2020:32778825 - ClinVar-203669 rs796051945 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MSUD2 3bINP-094 PubMed: Vela-Amieva 2024 Family case (affected maternal aunt and uncle) M yes Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-?/. - c.1282-114C>T r.(=) p.(=) Unknown - likely benign g.100662092G>A g.100196536G>A DBT(NM_001918.3):c.1282-114C>T - DBT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1282-17_1282-10del r.(=) p.(=) Unknown - benign g.100662008_100662015del g.100196452_100196459del DBT(NM_001918.5):c.1282-17_1282-10delTTTTTTTT - DBT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-16_1282-10del r.(=) p.(=) Unknown - likely benign g.100662009_100662015del g.100196453_100196459del DBT(NM_001918.5):c.1282-16_1282-10delTTTTTTT - DBT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-15_1282-10del r.(=) p.(=) Unknown - likely benign g.100662010_100662015del g.100196454_100196459del DBT(NM_001918.3):c.1282-15_1282-10delTTTTTT, DBT(NM_001918.5):c.1282-15_1282-10delTTTTTT - DBT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-15_1282-10del r.(=) p.(=) Unknown - likely benign g.100662010_100662015del g.100196454_100196459del DBT(NM_001918.3):c.1282-15_1282-10delTTTTTT, DBT(NM_001918.5):c.1282-15_1282-10delTTTTTT - DBT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-14_1282-10del r.(=) p.(=) Unknown - likely benign g.100662011_100662015del g.100196455_100196459del DBT(NM_001918.3):c.1282-14_1282-10delTTTTT, DBT(NM_001918.5):c.1282-14_1282-10delTTTTT - DBT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1282-14_1282-10del r.(=) p.(=) Unknown - benign g.100662011_100662015del g.100196455_100196459del DBT(NM_001918.3):c.1282-14_1282-10delTTTTT, DBT(NM_001918.5):c.1282-14_1282-10delTTTTT - DBT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1282-13_1282-10del r.(=) p.(=) Unknown - benign g.100662012_100662015del g.100196456_100196459del DBT(NM_001918.3):c.1282-13_1282-10delTTTT, DBT(NM_001918.5):c.1282-13_1282-10delTTTT - DBT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-13_1282-10del r.(=) p.(=) Unknown - likely benign g.100662012_100662015del g.100196456_100196459del DBT(NM_001918.3):c.1282-13_1282-10delTTTT, DBT(NM_001918.5):c.1282-13_1282-10delTTTT - DBT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1282-11_1282-10del r.(=) p.(=) Unknown - benign g.100662014_100662015del g.100196458_100196459del DBT(NM_001918.5):c.1282-11_1282-10delTT - DBT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-4C>A r.spl? p.? Unknown - likely benign g.100661982G>T g.100196426G>T DBT(NM_001918.3):c.1282-4C>A - DBT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282-4C>A r.spl? p.? Unknown - likely benign g.100661982G>T - DBT(NM_001918.3):c.1282-4C>A - DBT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1286T>A r.(?) p.(Ile429Asn) Parent #1 - pathogenic (recessive) g.100661974A>T g.100196418A>T - - DBT_000052 enzyme activity 0.65 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud019 PubMed: Henneke 2003, Journal: Henneke 2003 - - - France - - - - - 1 Johan den Dunnen
+?/. 11 c.1291C>T r.(?) p.(Arg431Ter) Both (homozygous) - likely pathogenic (recessive) g.100661969G>A g.100196413G>A - - DBT_000051 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs398123660 Germline - 10/66 alleles MSUD - - - DNA SEQ - - MSUD Pat23 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+?/. 11 c.1291C>T r.(?) p.(Arg431Ter) Both (homozygous) - likely pathogenic (recessive) g.100661969G>A g.100196413G>A - - DBT_000051 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs398123660 Germline - 10/66 alleles MSUD - - - DNA SEQ - - MSUD Pat24 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+?/. 11 c.1291C>T r.(?) p.(Arg431Ter) Both (homozygous) - likely pathogenic (recessive) g.100661969G>A g.100196413G>A - - DBT_000051 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs398123660 Germline - 10/66 alleles MSUD - - - DNA SEQ - - MSUD Pat25 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+?/. 11 c.1291C>T r.(?) p.(Arg431Ter) Both (homozygous) - likely pathogenic (recessive) g.100661969G>A g.100196413G>A - - DBT_000051 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs398123660 Germline - 10/66 alleles MSUD - - - DNA SEQ - - MSUD Pat26 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+?/. 11 c.1291C>T r.(?) p.(Arg431Ter) Both (homozygous) - likely pathogenic (recessive) g.100661969G>A g.100196413G>A - - DBT_000051 - PubMed: Khalifa 2020, Journal: Khalifa 2020 - rs398123660 Germline - 10/66 alleles MSUD - - - DNA SEQ - - MSUD Pat27 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - 1 Johan den Dunnen
+/. - c.1333_1336delAATG r.(?) p.(Asn445Ter) Both (homozygous) - pathogenic (recessive) g.100661928_100661931del g.100196372_100196375del 1333_1336delAATG - DBT_000050 - PubMed: Jaafar 2013, Journal: Jaafar 2013 - - Germline - - - - - DNA SEQ - - MSUD Pat3 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Tunisia - - - - - 1 Johan den Dunnen
+/. 11 c.1336G>A r.(?) p.(Val446Met) Parent #2 - pathogenic (recessive) g.100661924C>T g.100196368C>T - - DBT_000049 enzyme activity 0.65 PubMed: Henneke 2003, Journal: Henneke 2003 - - Germline - - - - - DNA SEQ, SSCA - - MSUD msud019 PubMed: Henneke 2003, Journal: Henneke 2003 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.1418A>G r.(?) p.(Asn473Ser) Unknown - likely benign g.100661842T>C g.100196286T>C DBT(NM_001918.3):c.1418A>G (p.N473S) - DBT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1448G>T r.1448G>T p.Ter483LeuextTer7 Both (homozygous) - pathogenic (recessive) g.100661812C>A g.100196256C>A 1463G>T (X422L) - DBT_000046 0.20 decarboxylation activity PubMed: Tsurata 1998, Journal: Tsurata 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MSUD KM24 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents M likely Japan - - - - - 1 Johan den Dunnen
-?/. - c.*4872A>G r.(=) p.(=) Parent #1 - likely benign g.100656939T>C g.100191383T>C - - DBT_000033 85 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12044663 Germline - 85/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 85 Mohammed Faruq
-?/. - c.*4872A>G r.(=) p.(=) Both (homozygous) - likely benign g.100656939T>C g.100191383T>C - - DBT_000033 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12044663 Germline - 1/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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