Full data view for gene MCCC2

Information The variants shown are described using the NM_022132.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.116C>T r.(?) p.(Ser39Phe) Parent #1 - VUS g.70883368C>T g.71587541C>T - - MCCC2_000013 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124371 Germline - 2/2753 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.129+3A>G r.spl? p.? Paternal (confirmed) - pathogenic g.70883384A>G g.71587557A>G - - MCCC2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - MCC2D - - - - - - - - - - - 1 Belen Perez
+?/. - c.129+3A>G r.spl p.? Parent #1 - likely pathogenic g.70883384A>G g.71587557A>G - - MCCC2_000006 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat44 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.158T>C r.(?) p.(Val53Ala) Both (homozygous) - likely pathogenic g.70888781T>C g.71592954T>C NM_022132.4:c.158T>C; p.Val53Ala - MCCC2_000024 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing MCC1D ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+?/. - c.167T>C r.(?) p.(Leu56Pro) Unknown - likely pathogenic g.70888790T>C g.71592963T>C - - MCCC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.281+4C>T r.spl p.? Parent #1 - VUS g.70892195C>T g.71596368C>T - - MCCC2_000022 - PubMed: Ganapathy 2019 - rs758998339 Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0563 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.295G>C r.(?) p.(Glu99Gln) Unknown - pathogenic g.70895499G>C - MCCC2(NM_022132.5):c.295G>C (p.E99Q) - MCCC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.295G>C r.(?) p.(Glu99Gln) Parent #1 - likely pathogenic g.70895499G>C g.71599672G>C - - MCCC2_000028 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat43 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.328G>A r.(?) p.(Asp110Asn) Unknown - VUS g.70895532G>A - MCCC2(NM_022132.5):c.328G>A (p.(Asp110Asn)) - MCCC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349G>C r.(?) p.(Gly117Arg) Unknown - VUS g.70895553G>C - - - MCCC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.531C>A r.(?) p.(Tyr177*) Unknown - likely pathogenic g.70900202C>A - MCCC2(NM_022132.5):c.531C>A (p.(Tyr177*)) - MCCC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577C>T r.(?) p.(Arg193Cys) Unknown - VUS g.70900248C>T g.71604421C>T - - MCCC2_000032 - PubMed: Wang 2019 - - Germline - 2/24 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 2 Johan den Dunnen
+?/. - c.577C>T r.(?) p.(Arg193Cys) Unknown - likely pathogenic g.70900248C>T - - - MCCC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592C>T r.(?) p.(Gln198Ter) Unknown - likely pathogenic g.70900263C>T g.71604436C>T - - MCCC2_000033 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
?/. - c.599T>A r.(?) p.(Ile200Asn) Unknown - VUS g.70900270T>A - MCCC2(NM_022132.4):c.599T>A (p.I200N) - MCCC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.641G>C r.(?) p.(Gly214Ala) Parent #2 - likely pathogenic g.70922483G>C g.71626656G>C - - MCCC2_000035 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat45 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.701G>A r.(?) p.(Arg234His) Unknown - VUS g.70922543G>A - MCCC2(NM_022132.5):c.701G>A (p.(Arg234His)) - MCCC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.735dup r.(?) p.(Val247GlyfsTer2) Unknown - pathogenic g.70922577dup - MCCC2(NM_022132.4):c.735dupC (p.V247Gfs*2) - MCCC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.803G>C r.(?) p.(Arg268Thr) Unknown - likely pathogenic g.70928012G>C - - - MCCC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.845A>C r.(?) p.(His282Pro) Unknown - VUS g.70930811A>C - - - MCCC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.845A>G r.(?) p.(His282Arg) Parent #2 - VUS g.70930811A>G g.71634984A>G - - MCCC2_000023 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0563 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. - c.904-12A>G r.(=) p.(=) Unknown - benign g.70930966A>G g.71635139A>G MCCC2(NM_022132.5):c.904-12A>G - MCCC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.904-12A>G r.(=) p.(=) Unknown - benign g.70930966A>G g.71635139A>G MCCC2(NM_022132.5):c.904-12A>G - MCCC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.994C>T r.(?) p.(Arg332*) Parent #1 - pathogenic g.70931068C>T g.71635241C>T - - MCCC2_000014 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs727504010 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-/. - c.999+929G>A r.(=) p.(=) Unknown - benign g.70932002G>A g.71636175G>A MCCC2(NM_022132.5):c.999+929G>A - MCCC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1000-1G>C r.spl? p.? Unknown - pathogenic g.70936829G>C g.71641002G>C MCCC2(NM_022132.5):c.1000-1G>C - MCCC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1014C>T r.(?) p.(Ile338=) Unknown - likely benign g.70936844C>T g.71641017C>T MCCC2(NM_022132.4):c.1014C>T (p.I338=) - MCCC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015G>A r.(?) p.(Val339Met) Unknown - pathogenic g.70936845G>A g.71641018G>A MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M) - MCCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015G>A r.(?) p.(Val339Met) Paternal (confirmed) - pathogenic g.70936845G>A g.71641018G>A - - MCCC2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - MCC2D - - - - - - - - - - - 1 Belen Perez
+/. - c.1015G>A r.(?) p.(Val339Met) Unknown - pathogenic g.70936845G>A - MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M) - MCCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015G>A r.(?) p.(Val339Met) Unknown - pathogenic g.70936845G>A - MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M) - MCCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1015G>A r.(?) p.(Val339Met) Parent #1 - likely pathogenic g.70936845G>A g.71641018G>A - - MCCC2_000003 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat45 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1015G>A r.(?) p.(Val339Met) Parent #1 - likely pathogenic g.70936845G>A g.71641018G>A - - MCCC2_000003 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat46 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1015G>A r.(?) p.(Val339Met) Unknown - pathogenic g.70936845G>A - MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M) - MCCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1015G>A r.(?) p.(Val339Met) Unknown - pathogenic g.70936845G>A - MCCC2(NM_022132.4):c.1015G>A (p.V339M), MCCC2(NM_022132.5):c.1015G>A (p.(Val339Met), p.V339M) - MCCC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1054G>A r.[1054g>a,1000_1072delins999+858_999+921] p.[Gly352Arg,Val334_Thrr357delins21] Both (homozygous) - pathogenic (recessive) g.70936884G>A - - - MCCC2_000025 relative expression transcripts 3:2 PubMed: Stucki 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MCC2D MCC019 PubMed: Stucki 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Switzerland - - - - - 1 Johan den Dunnen
+/. - c.1081C>T r.(?) p.(Arg361*) Parent #1 - pathogenic g.70939654C>T g.71643827C>T - - MCCC2_000015 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs763293192 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1154del r.(?) p.(Thr385Ilefs*53) Maternal (confirmed) - pathogenic g.70942042del g.71646215del 1154delC - MCCC2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - MCC2D - - - - - - - - - - - 1 Belen Perez
+/. 13 c.1154del r.(?) p.(Thr385IlefsTer53) Parent #2 - pathogenic g.70942042del g.71646215del 1154delC - MCCC2_000007 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat46 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.1181G>C r.(?) p.(Arg394Thr) Unknown - VUS g.70942069G>C - - - MCCC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1255G>A r.(?) p.(Ala419Thr) Unknown - VUS g.70944962G>A - MCCC2(NM_022132.5):c.1255G>A (p.(Ala419Thr)) - MCCC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271A>C r.(?) p.(Lys424Thr) Unknown - VUS g.70944978A>C g.71649151A>C - - MCCC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282G>A r.(?) p.(Ala428Thr) Unknown - VUS g.70944989G>A - MCCC2(NM_022132.5):c.1282G>A (p.A428T) - MCCC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1300G>C r.(?) p.(Val434Leu) Both (homozygous) - likely pathogenic g.70945007G>C g.71649180G>C - - MCCC2_000036 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat47 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1309A>G r.(?) p.(Ile437Val) Unknown - pathogenic g.70945016A>G g.71649189A>G MCCC2(NM_022132.4):c.1309A>G (p.I437V) - MCCC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1309A>G r.(?) p.(Ile437Val) Unknown - likely pathogenic g.70945016A>G - MCCC2(NM_022132.4):c.1309A>G (p.I437V) - MCCC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322T>C r.(?) p.(Ile441Thr) Maternal (confirmed) - VUS g.70945029T>C g.71649202T>C - - MCCC2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - MCC2D - - - - - - - - - - - 1 Belen Perez
+?/. - c.1322T>C r.(?) p.(Ile441Thr) Parent #2 - likely pathogenic g.70945029T>C g.71649202T>C - - MCCC2_000008 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat44 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. 14 c.1356G>A r.(?) p.(Met452Ile) Both (homozygous) ACMG likely pathogenic (recessive) g.70945063G>A g.71649236G>A - - MCCC2_000031 Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020). Variant not previously reported in Databases as dbSNP, GnomAD, ClinVar, nor in literature. - - - Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing MCC2D 3bINP-059 PubMed: Vela-Amieva 2024 Likely consanguinity M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-/. - c.1368A>G r.(?) p.(Ala456=) Unknown - benign g.70945075A>G g.71649248A>G MCCC2(NM_022132.5):c.1368A>G (p.A456=) - MCCC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1368A>G r.(?) p.(Ala456=) Unknown - benign g.70945075A>G g.71649248A>G MCCC2(NM_022132.5):c.1368A>G (p.A456=) - MCCC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1423G>A r.(?) p.(Gly475Arg) Both (homozygous) - likely pathogenic g.70945945G>A g.71650118G>A - - MCCC2_000037 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat48 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.1534A>G r.(?) p.(Lys512Glu) Unknown - VUS g.70948541A>G - - - MCCC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1567A>G r.(?) p.(Ser523Gly) Unknown - likely pathogenic g.70948574A>G - - - MCCC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1567A>G r.(?) p.(Ser523Gly) Parent #2 - likely pathogenic g.70948574A>G g.71652747A>G - - MCCC2_000019 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat43 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1580G>A r.(?) p.(Trp527Ter) Unknown - likely pathogenic g.70952575G>A g.71656748G>A - - MCCC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1652C>T r.(?) p.(Ala551Val) Unknown ACMG likely pathogenic g.70952647C>T - - - MCCC2_000026 - - - - Unknown - - - - - DNA SEQ-NG - - SUD SUDS112 PubMed: Neubauer 2021 - F - Switzerland Europe 33y - - - 1 Cordula Haas
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