All variants in the MCCC2 gene

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     

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     
?/. - c.116C>T r.(?) p.(Ser39Phe) - 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 - - - Mohammed Faruq
+/. - c.129+3A>G r.spl? p.? - pathogenic g.70883384A>G g.71587557A>G - - MCCC2_000006 - - - - Germline - - - - - Belen Perez
+?/. - c.129+3A>G r.spl p.? - likely pathogenic g.70883384A>G g.71587557A>G - - MCCC2_000006 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.158T>C r.(?) p.(Val53Ala) - likely pathogenic g.70888781T>C g.71592954T>C NM_022132.4:c.158T>C; p.Val53Ala - MCCC2_000024 - PubMed: Nair 2018 - - Unknown ? - - - - LOVD
+?/. - c.167T>C r.(?) p.(Leu56Pro) - likely pathogenic g.70888790T>C g.71592963T>C - - MCCC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 3i c.281+4C>T r.spl p.? - VUS g.70892195C>T g.71596368C>T - - MCCC2_000022 - PubMed: Ganapathy 2019 - rs758998339 Germline - - - - - Johan den Dunnen
+/. - c.295G>C r.(?) p.(Glu99Gln) - pathogenic g.70895499G>C - MCCC2(NM_022132.5):c.295G>C (p.E99Q) - MCCC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.295G>C r.(?) p.(Glu99Gln) - likely pathogenic g.70895499G>C g.71599672G>C - - MCCC2_000028 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.328G>A r.(?) p.(Asp110Asn) - VUS g.70895532G>A - MCCC2(NM_022132.5):c.328G>A (p.(Asp110Asn)) - MCCC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.349G>C r.(?) p.(Gly117Arg) - VUS g.70895553G>C - - - MCCC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.531C>A r.(?) p.(Tyr177*) - likely pathogenic g.70900202C>A - MCCC2(NM_022132.5):c.531C>A (p.(Tyr177*)) - MCCC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.577C>T r.(?) p.(Arg193Cys) - VUS g.70900248C>T g.71604421C>T - - MCCC2_000032 - PubMed: Wang 2019 - - Germline - 2/24 case chromosomes - - - Johan den Dunnen
+?/. - c.577C>T r.(?) p.(Arg193Cys) - likely pathogenic g.70900248C>T - - - MCCC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.592C>T r.(?) p.(Gln198Ter) - likely pathogenic g.70900263C>T g.71604436C>T - - MCCC2_000033 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
?/. - c.599T>A r.(?) p.(Ile200Asn) - VUS g.70900270T>A - MCCC2(NM_022132.4):c.599T>A (p.I200N) - MCCC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.641G>C r.(?) p.(Gly214Ala) - likely pathogenic g.70922483G>C g.71626656G>C - - MCCC2_000035 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.701G>A r.(?) p.(Arg234His) - VUS g.70922543G>A - MCCC2(NM_022132.5):c.701G>A (p.(Arg234His)) - MCCC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.735dup r.(?) p.(Val247GlyfsTer2) - pathogenic g.70922577dup - MCCC2(NM_022132.4):c.735dupC (p.V247Gfs*2) - MCCC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.803G>C r.(?) p.(Arg268Thr) - likely pathogenic g.70928012G>C - - - MCCC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.845A>C r.(?) p.(His282Pro) - VUS g.70930811A>C - - - MCCC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 9 c.845A>G r.(?) p.(His282Arg) - VUS g.70930811A>G g.71634984A>G - - MCCC2_000023 - - - - Germline - - - - - LOVD
-/. - c.904-12A>G r.(=) p.(=) - benign g.70930966A>G g.71635139A>G MCCC2(NM_022132.5):c.904-12A>G - MCCC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.904-12A>G r.(=) p.(=) - benign g.70930966A>G g.71635139A>G MCCC2(NM_022132.5):c.904-12A>G - MCCC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.994C>T r.(?) p.(Arg332*) - 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 - - - Mohammed Faruq
-/. - c.999+929G>A r.(=) p.(=) - benign g.70932002G>A g.71636175G>A MCCC2(NM_022132.5):c.999+929G>A - MCCC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1000-1G>C r.spl? p.? - pathogenic g.70936829G>C g.71641002G>C MCCC2(NM_022132.5):c.1000-1G>C - MCCC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1014C>T r.(?) p.(Ile338=) - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.1015G>A r.(?) p.(Val339Met) - 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 - - - - - VKGL-NL_Utrecht
+/. - c.1015G>A r.(?) p.(Val339Met) - pathogenic g.70936845G>A g.71641018G>A - - MCCC2_000003 - - - - Germline - - - - - Belen Perez
+/. - c.1015G>A r.(?) p.(Val339Met) - 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 - - - - - VKGL-NL_Rotterdam
+/. - c.1015G>A r.(?) p.(Val339Met) - 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 - - - - - VKGL-NL_Groningen
+?/. - c.1015G>A r.(?) p.(Val339Met) - likely pathogenic g.70936845G>A g.71641018G>A - - MCCC2_000003 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.1015G>A r.(?) p.(Val339Met) - likely pathogenic g.70936845G>A g.71641018G>A - - MCCC2_000003 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1015G>A r.(?) p.(Val339Met) - 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 - - - - - VKGL-NL_Nijmegen
+/. - c.1015G>A r.(?) p.(Val339Met) - 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 - - - - - VKGL-NL_Leiden
+/. 11 c.1054G>A r.[1054g>a,1000_1072delins999+858_999+921] p.[Gly352Arg,Val334_Thrr357delins21] - pathogenic (recessive) g.70936884G>A - - - MCCC2_000025 relative expression transcripts 3:2 PubMed: Stucki 2009 - - Germline - - - - - Johan den Dunnen
+/. - c.1081C>T r.(?) p.(Arg361*) - 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 - - - Mohammed Faruq
+/. - c.1154del r.(?) p.(Thr385Ilefs*53) - pathogenic g.70942042del g.71646215del 1154delC - MCCC2_000007 - - - - Germline - - - - - Belen Perez
+/. 13 c.1154del r.(?) p.(Thr385IlefsTer53) - pathogenic g.70942042del g.71646215del 1154delC - MCCC2_000007 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.1181G>C r.(?) p.(Arg394Thr) - VUS g.70942069G>C - - - MCCC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1255G>A r.(?) p.(Ala419Thr) - VUS g.70944962G>A - MCCC2(NM_022132.5):c.1255G>A (p.(Ala419Thr)) - MCCC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1271A>C r.(?) p.(Lys424Thr) - VUS g.70944978A>C g.71649151A>C - - MCCC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1282G>A r.(?) p.(Ala428Thr) - VUS g.70944989G>A - MCCC2(NM_022132.5):c.1282G>A (p.A428T) - MCCC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1300G>C r.(?) p.(Val434Leu) - likely pathogenic g.70945007G>C g.71649180G>C - - MCCC2_000036 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1309A>G r.(?) p.(Ile437Val) - 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 - - - - - VKGL-NL_Nijmegen
+?/. - c.1309A>G r.(?) p.(Ile437Val) - likely pathogenic g.70945016A>G - MCCC2(NM_022132.4):c.1309A>G (p.I437V) - MCCC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1322T>C r.(?) p.(Ile441Thr) - VUS g.70945029T>C g.71649202T>C - - MCCC2_000008 - - - - Germline - - - - - Belen Perez
+?/. - c.1322T>C r.(?) p.(Ile441Thr) - likely pathogenic g.70945029T>C g.71649202T>C - - MCCC2_000008 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. 14 c.1356G>A r.(?) p.(Met452Ile) 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 - - - - Miriam Erandi Reyna-Fabián
-/. - c.1368A>G r.(?) p.(Ala456=) - 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 - - - - - VKGL-NL_Groningen
-/. - c.1368A>G r.(?) p.(Ala456=) - 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 - - - - - VKGL-NL_Nijmegen
+?/. - c.1423G>A r.(?) p.(Gly475Arg) - likely pathogenic g.70945945G>A g.71650118G>A - - MCCC2_000037 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.1534A>G r.(?) p.(Lys512Glu) - VUS g.70948541A>G - - - MCCC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1567A>G r.(?) p.(Ser523Gly) - likely pathogenic g.70948574A>G - - - MCCC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1567A>G r.(?) p.(Ser523Gly) - likely pathogenic g.70948574A>G g.71652747A>G - - MCCC2_000019 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.1580G>A r.(?) p.(Trp527Ter) - likely pathogenic g.70952575G>A g.71656748G>A - - MCCC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1652C>T r.(?) p.(Ala551Val) ACMG likely pathogenic g.70952647C>T - - - MCCC2_000026 - - - - Unknown - - - - - Cordula Haas
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