All variants in the MCCC1 gene

Information The variants shown are described using the NM_020166.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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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.? r.? p.? - likely pathogenic g.? - 1103delG (G368Vfs*70) - OPA1_000149 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
?/. - c.130G>T r.(?) p.(Ala44Ser) - VUS g.182812353C>A g.183094565C>A MCCC1(NM_020166.3):c.130G>T (p.(Ala44Ser)) - MCCC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.131C>T r.(?) p.(Ala44Val) - VUS g.182812352G>A g.183094564G>A MCCC1(NM_020166.3):c.131C>T (p.(Ala44Val)), MCCC1(NM_020166.5):c.131C>T (p.A44V) - MCCC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.131C>T r.(?) p.(Ala44Val) - VUS g.182812352G>A - MCCC1(NM_020166.3):c.131C>T (p.(Ala44Val)), MCCC1(NM_020166.5):c.131C>T (p.A44V) - MCCC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.137-2A>G r.spl? p.? - pathogenic g.182810335T>C g.183092547T>C MCCC1(NM_020166.5):c.137-2A>G - MCCC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.137-2A>G r.spl p.? - pathogenic g.182810335T>C g.183092547T>C - - MCCC1_000007 - - - - Germline - - - - - Belen Perez
+?/. - c.137-2A>G r.spl? p.? - likely pathogenic g.182810335T>C - MCCC1(NM_020166.5):c.137-2A>G - MCCC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.137-2A>G r.spl p.? - likely pathogenic g.182810335T>C g.183092547T>C - - MCCC1_000007 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.172G>A r.(?) p.(Gly58Arg) - VUS g.182810298C>T - - - MCCC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.181G>T r.(?) p.(Ala61Ser) - VUS g.182810289C>A g.183092501C>A - - MCCC1_000048 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
?/. - c.184T>G r.(?) p.(Cys62Gly) - VUS g.182810286A>C g.183092498A>C - - MCCC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.190G>A r.(?) p.(Val64Met) - VUS g.182810280C>T g.183092492C>T - - MCCC1_000047 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
?/. - c.230C>T r.(?) p.(Ala77Val) - VUS g.182810240G>A - MCCC1(NM_020166.5):c.230C>T (p.(Ala77Val)) - MCCC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.295G>A r.(?) p.(Gly99Ser) - VUS g.182804555C>T - MCCC1(NM_020166.4):c.295G>A (p.G99S) - MCCC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.310C>T r.(?) p.(Gln104Ter) - pathogenic g.182804540G>A g.183086752G>A - - MCCC1_000053 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.369+1G>A r.(?) p.? - pathogenic g.182804480C>T g.183086692C>T - - MCCC1_000015 - - - - Germline - - - - - Belen Perez
+?/. - c.369+1G>A r.spl p.? - likely pathogenic g.182804480C>T g.183086692C>T - - MCCC1_000015 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.388G>A r.(?) p.(Gly130Ser) - likely pathogenic g.182790257C>T g.183072469C>T MCCC1(NM_020166.4):c.388G>A (p.G130S) - MCCC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.388G>A r.(?) p.(Gly130Ser) - VUS g.182790257C>T - MCCC1(NM_020166.4):c.388G>A (p.G130S) - MCCC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.388G>A r.(?) p.(Gly130Ser) - VUS g.182790257C>T g.183072469C>T - - MCCC1_000028 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
-/. - c.396C>T r.(?) p.(Leu132=) - benign g.182790249G>A g.183072461G>A MCCC1(NM_020166.5):c.396C>T (p.L132=) - MCCC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.396C>T r.(?) p.(Leu132=) - benign g.182790249G>A g.183072461G>A MCCC1(NM_020166.5):c.396C>T (p.L132=) - MCCC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.416C>T r.(?) p.(Ala139Val) - VUS g.182790229G>A g.183072441G>A T139I - MCCC1_000046 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
?/. - c.490del r.(?) p.(Ser164AlafsTer6) - VUS g.182790155del g.183072367del 490delA - MCCC1_000045 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
+?/. - c.539G>T r.(?) p.(Gly180Val) - likely pathogenic g.182789098C>A g.183071310C>A - - MCCC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.559T>C r.(?) p.(Ser187Pro) - likely pathogenic g.182789078A>G g.183071290A>G - - MCCC1_000052 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.639+2T>A r.spl p.(Ser164Argfs*3) - pathogenic g.182788996A>T g.183071208A>T - - MCCC1_000044 - PubMed: Wang 2019 - - Germline - 4/24 case chromosomes - - - Johan den Dunnen
+/. - c.684dup r.(?) p.(Glu229Argfs*8) - pathogenic g.182788864dup g.183071076dup 684dupA - MCCC1_000014 - - - - Germline - - - - - Belen Perez
+/. 7 c.684dup r.(?) p.(Glu229ArgfsTer8) - pathogenic g.182788864dup g.183071076dup 684dupA - MCCC1_000014 - PubMed: Navarrete 2019 - rs773583869 Germline - - - - - Johan den Dunnen
+?/. - c.694C>T r.(?) p.(Arg232Trp) - likely pathogenic g.182788854G>A - MCCC1(NM_020166.5):c.694C>T (p.R232W) - MCCC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.785G>A r.(?) p.(Gly262Asp) - VUS g.182775187C>T g.183057399C>T - - MCCC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.841C>T r.(?) p.(Arg281Ter) - pathogenic g.182775131G>A g.183057343G>A MCCC1(NM_020166.4):c.841C>T (p.R281*) - MCCC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.863A>G r.(?) p.(Glu288Gly) - VUS g.182775109T>C g.183057321T>C - - MCCC1_000043 - PubMed: Wang 2019 - - Germline - 3/24 case chromosomes - - - Johan den Dunnen
+?/. - c.872C>T r.(?) p.(Ala291Val) - likely pathogenic g.182775100G>A g.183057312G>A - - MCCC1_000013 - - - - Germline - - - - - Belen Perez
?/. - c.872C>T r.(?) p.(Ala291Val) - VUS g.182775100G>A g.183057312G>A - - MCCC1_000013 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
+/. - c.872C>T r.(?) p.(Ala291Val) - pathogenic g.182775100G>A - MCCC1(NM_020166.3):c.872C>T (p.(Ala291Val)) - MCCC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.872C>T r.(?) p.(Ala291Val) - likely pathogenic g.182775100G>A g.183057312G>A - - MCCC1_000013 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.873G>A r.(?) p.(Ala291=) - likely pathogenic g.182775099C>T g.183057311C>T - - MCCC1_000051 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.945T>A r.(?) p.(Tyr315*) - pathogenic g.182769957A>T - MCCC1(NM_020166.5):c.945T>A (p.Y315*) - MCCC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1008G>C r.(?) p.(Met336Ile) - likely pathogenic g.182763276C>G g.183045488C>G - - MCCC1_000012 - - - - Germline - - - - - Belen Perez
+?/. 10 c.1008G>C r.(?) p.(Met336Ile) - likely pathogenic g.182763276C>G g.183045488C>G - - MCCC1_000012 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1013_1015del r.(?) p.(Thr338del) - pathogenic g.182763270_182763272del - - - MCCC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1046T>C r.(?) p.(Met349Thr) - VUS g.182763238A>G g.183045450A>G - - MCCC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1069G>T r.(?) p.(Glu357Ter) - likely pathogenic g.182763215C>A g.183045427C>A - - MCCC1_000042 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
+/. - c.1114C>T r.(?) p.(Gln372Ter) - pathogenic g.182759508G>A g.183041720G>A MCCC1(NM_020166.5):c.1114C>T (p.Q372*) - MCCC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1136G>A r.(?) p.(Gly379Asp) - VUS g.182759486C>T g.183041698C>T - - MCCC1_000041 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
+?/. - c.1147G>A r.(?) p.(Glu383Lys) - likely pathogenic g.182759475C>T g.183041687C>T - - MCCC1_000050 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1155A>C r.(?) p.(Arg385Ser) - pathogenic g.182759467T>G - - - MCCC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1155A>C r.(?) p.(Arg385Ser) - likely pathogenic g.182759467T>G g.183041679T>G - - MCCC1_000034 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.1155A>C r.(?) p.(Arg385Ser) - likely pathogenic g.182759467T>G g.183041679T>G - - MCCC1_000034 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+?/. - c.1155A>C r.(?) p.(Arg385Ser) - likely pathogenic g.182759467T>G g.183041679T>G - - MCCC1_000034 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.1193_1194del r.(?) p.(Val398Glyfs*19) - pathogenic g.182759430_182759431del g.183041642_183041643del - - MCCC1_000026 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796051985 Germline - 3/2795 individuals - - - Mohammed Faruq
+/. - c.1193_1194del r.(?) p.(Val398Glyfs*19) - pathogenic g.182759430_182759431del - MCCC1(NM_020166.4):c.1193_1194delTG (p.V398Gfs*19) - MCCC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1261C>T r.(?) p.(Arg421Trp) - likely pathogenic g.182759361G>A g.183041573G>A - - MCCC1_000011 - - - - Germline - - - - - Belen Perez
+?/. 11 c.1261C>T r.(?) p.(Arg421Trp) - likely pathogenic g.182759361G>A g.183041573G>A - - MCCC1_000011 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.1302T>G r.(?) p.(Ile434Met) - VUS g.182756889A>C - MCCC1(NM_020166.5):c.1302T>G (p.(Ile434Met)) - MCCC1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1331G>A r.(?) p.(Arg444His) - pathogenic g.182756860C>T g.183039072C>T - - MCCC1_000010 - - - - Germline - - - - - Belen Perez
+?/. - c.1331G>A r.(?) p.(Arg444His) - likely pathogenic g.182756860C>T g.183039072C>T - - MCCC1_000010 - PubMed: Navarrete 2019 - - Germline - - - - - Johan den Dunnen
?/. - c.1358A>G r.(?) p.(Tyr453Cys) - VUS g.182756833T>C g.183039045T>C MCCC1(NM_020166.4):c.1358A>G (p.Y453C) - MCCC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1381G>T r.(?) p.(Val461Phe) - VUS g.182755219C>A g.183037431C>A - - MCCC1_000040 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
-/. - c.1391A>C r.(?) p.(His464Pro) - benign g.182755209T>G g.183037421T>G MCCC1(NM_020166.5):c.1391A>C (p.H464P) - MCCC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1391A>C r.(?) p.(His464Pro) - benign g.182755209T>G g.183037421T>G MCCC1(NM_020166.5):c.1391A>C (p.H464P) - MCCC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1391A>C r.(?) p.(His464Pro) - benign g.182755209T>G g.183037421T>G MCCC1(NM_020166.5):c.1391A>C (p.H464P) - MCCC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1456A>G r.(?) p.(Thr486Ala) - VUS g.182755144T>C g.183037356T>C - - MCCC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1492C>T r.(?) p.(Leu498Phe) - VUS g.182755108G>A - MCCC1(NM_020166.5):c.1492C>T (p.(Leu498Phe)) - MCCC1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1504G>C r.(?) p.(Ala502Pro) - likely benign g.182755096C>G - MCCC1(NM_020166.3):c.1504G>C (p.(Ala502Pro)) - MCCC1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1527C>A r.(?) p.(Cys509*) - pathogenic g.182755073G>T - - - MCCC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1594G>C r.(?) p.(Asp532His) - likely pathogenic g.182755006C>G - - - MCCC1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1614G>A r.(=) p.(=) - VUS g.182751846C>T g.183034058C>T - - MCCC1_000025 conflicting interpretations of pathogenicity; 38 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34749281 Germline - 38/2793 individuals - - - Mohammed Faruq
?/. - c.1619G>A r.(?) p.(Ser540Asn) - VUS g.182751841C>T - MCCC1(NM_020166.5):c.1619G>A (p.(Ser540Asn)) - MCCC1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1679dup r.(?) p.(Asn560LysfsTer10) - pathogenic g.182751785dup g.183033997dup 1679dupA - MCCC1_000002 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - Johan den Dunnen
-?/. - c.1795A>G r.(?) p.(Lys599Glu) - likely benign g.182740279T>C g.183022491T>C MCCC1(NM_020166.3):c.1795A>G (p.(Lys599Glu)) - MCCC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1894C>T r.(?) p.(Pro632Ser) - likely benign g.182738001G>A - - - MCCC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2046G>C r.(?) p.(Met682Ile) - VUS g.182735057C>G g.183017269C>G MCCC1(NM_020166.3):c.2046G>C (p.(Met682Ile)) - MCCC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2085delinsAA r.(?) p.(Val697Serfs*19) - VUS g.182733319delinsTT - MCCC1(NM_020166.5):c.2085delinsAA (p.(Val697Serfs*19)) - MCCC1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.2088dup r.(?) p.(Val697SerfsTer19) - likely pathogenic g.182733318dup - MCCC1(NM_020166.4):c.2088dupA (p.V697Sfs*19), MCCC1(NM_020166.5):c.2088dupA (p.V697Sfs*19) - MCCC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2088dup r.(?) p.(Val697SerfsTer19) - pathogenic g.182733318dup - MCCC1(NM_020166.4):c.2088dupA (p.V697Sfs*19), MCCC1(NM_020166.5):c.2088dupA (p.V697Sfs*19) - MCCC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2149G>A r.(?) p.(Glu717Lys) - likely benign g.182733255C>T g.183015467C>T MCCC1(NM_020166.3):c.2149G>A (p.(Glu717Lys)) - MCCC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2171C>T r.(?) p.(Ser724Leu) - likely benign g.182733233G>A g.183015445G>A MCCC1(NM_020166.3):c.2171C>T (p.(Ser724Leu)) - MCCC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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