Full data view for gene MCM4

Information The variants shown are described using the NM_005914.3 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.-5196C>A r.(?) p.(=) Unknown - VUS g.48868509C>A - PRKDC(NM_006904.6):c.325-1G>T - MCM4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5178del r.(?) p.(=) Unknown - benign g.48868527del g.47955967del PRKDC(NM_006904.6):c.325-10delT - PRKDC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3896T>C r.(?) p.(=) Unknown - likely benign g.48869809T>C g.47957249T>C PRKDC(NM_006904.6):c.246A>G (p.R82=) - MCM4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3799T>C r.(?) p.(=) Unknown - likely benign g.48869906T>C - PRKDC(NM_006904.6):c.231+9A>G - MCM4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1147G>A r.(?) p.(=) Unknown - likely benign g.48872558G>A g.47959998G>A PRKDC(NM_006904.6):c.129C>T (p.V43=) - MCM4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1094C>T r.(?) p.(=) Unknown - likely benign g.48872611C>T - PRKDC(NM_006904.6):c.76G>A (p.G26S) - MCM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1060C>T r.(?) p.(=) Unknown - likely benign g.48872645C>T g.47960085C>T PRKDC(NM_006904.6):c.42G>A (p.R14=) - PRKDC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1060C>T r.(?) p.(=) Unknown - likely benign g.48872645C>T g.47960085C>T PRKDC(NM_006904.6):c.42G>A (p.R14=) - PRKDC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71-2A>G r.spl? p.? Unknown - pathogenic g.48874074A>G - - - MCM4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Pro33=) Unknown - likely benign g.48874104C>T - MCM4(NM_005914.4):c.99C>T (p.P33=) - MCM4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Glu47Lys) Unknown - VUS g.48874144G>A g.47961584G>A MCM4(NM_005914.4):c.139G>A (p.E47K) - MCM4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157A>G r.(?) p.(Thr53Ala) Unknown - likely benign g.48874162A>G g.47961602A>G MCM4(NM_005914.4):c.157A>G (p.T53A) - MCM4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>C r.(?) p.(Asp58His) Unknown - VUS g.48874177G>C - MCM4(NM_005914.4):c.172G>C (p.D58H) - MCM4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235+4C>T r.spl? p.? Unknown - likely benign g.48874244C>T - MCM4(NM_005914.4):c.235+4C>T - MCM4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415A>G r.(?) p.(Ile139Val) Unknown - likely benign g.48874880A>G - MCM4(NM_005914.4):c.415A>G (p.I139V) - MCM4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615G>A r.(?) p.(Glu205=) Unknown - likely benign g.48875522G>A - MCM4(NM_005914.4):c.615G>A (p.E205=) - MCM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714C>T r.(?) p.(Asp238=) Unknown - likely benign g.48877154C>T g.47964594C>T MCM4(NM_005914.4):c.714C>T (p.D238=) - MCM4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714C>T r.(?) p.(Asp238=) Unknown - likely benign g.48877154C>T - MCM4(NM_005914.4):c.714C>T (p.D238=) - MCM4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743G>A r.(?) p.(Arg248His) Parent #1 - VUS g.48877183G>A g.47964623G>A - - MCM4_000020 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146842638 Germline - 14/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
?/. - c.743G>A r.(?) p.(Arg248His) Unknown - VUS g.48877183G>A - - - MCM4_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.743G>A r.(?) p.(Arg248His) Unknown - VUS g.48877183G>A - - - MCM4_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.743G>A r.(?) p.(Arg248His) Unknown - VUS g.48877183G>A - - - MCM4_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.743G>A r.(?) p.(Arg248His) Unknown - VUS g.48877183G>A - - - MCM4_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.743G>A r.(?) p.(Arg248His) Unknown - VUS g.48877183G>A - - - MCM4_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.743G>A r.(?) p.(Arg248His) Unknown - VUS g.48877183G>A - - - MCM4_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.833A>G r.(?) p.(Asp278Gly) Unknown - VUS g.48878747A>G g.47966187A>G MCM4(NM_005914.4):c.833A>G (p.D278G) - MCM4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848T>C r.(?) p.(Ile283Thr) Unknown - VUS g.48878762T>C g.47966202T>C MCM4(NM_005914.4):c.848T>C (p.I283T) - MCM4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.851C>T r.(?) p.(Thr284Ile) Unknown - VUS g.48878765C>T - - - MCM4_000033 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.858C>T r.(?) p.(Ser286=) Unknown - likely benign g.48878772C>T g.47966212C>T MCM4(NM_005914.4):c.858C>T (p.S286=) - MCM4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859G>A r.(?) p.(Gly287Ser) Unknown - VUS g.48878773G>A - MCM4(NM_005914.4):c.859G>A (p.G287S) - MCM4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899A>G r.(?) p.(Gln300Arg) Unknown - likely benign g.48878813A>G - MCM4(NM_005914.4):c.899A>G (p.Q300R) - MCM4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956G>A r.(?) p.(Arg319His) Unknown - VUS g.48878870G>A - - - MCM4_000034 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.961C>T r.(?) p.(Arg321Cys) Unknown - likely benign g.48878875C>T g.47966315C>T MCM4(NM_005914.4):c.961C>T (p.R321C) - MCM4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.961C>T r.(?) p.(Arg321Cys) Parent #1 - VUS g.48878875C>T g.47966315C>T - - MCM4_000007 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142732823 Germline - 10/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
-?/. - c.961C>T r.(?) p.(Arg321Cys) Unknown - likely benign g.48878875C>T g.47966315C>T MCM4(NM_005914.4):c.961C>T (p.R321C) - MCM4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028G>A r.(?) p.(Arg343His) Unknown - VUS g.48878942G>A - MCM4(NM_005914.4):c.1028G>A (p.R343H) - MCM4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1097C>T r.(?) p.(Thr366Ile) Unknown - VUS g.48879968C>T - - - MCM4_000035 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1097C>T r.(?) p.(Thr366Ile) Unknown - VUS g.48879968C>T - - - MCM4_000035 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1175-7C>T r.(=) p.(=) Unknown - likely benign g.48882351C>T g.47969791C>T MCM4(NM_005914.4):c.1175-7C>T - MCM4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1175-7C>T r.(=) p.(=) Unknown - likely benign g.48882351C>T - MCM4(NM_005914.4):c.1175-7C>T - MCM4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209A>G r.(?) p.(Pro403=) Unknown - likely benign g.48882392A>G g.47969832A>G MCM4(NM_005914.4):c.1209A>G (p.P403=) - MCM4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1226A>T r.(?) p.(Lys409Met) Unknown - VUS g.48882409A>T g.47969849A>T MCM4(NM_005914.4):c.1226A>T (p.K409M) - MCM4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1281A>G r.(?) p.(Lys427=) Unknown - likely benign g.48882464A>G - MCM4(NM_005914.4):c.1281A>G (p.K427=) - MCM4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1300G>A r.(?) p.(Glu434Lys) Unknown - VUS g.48882483G>A - - - MCM4_000036 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1406G>C r.(?) p.(Ser469Thr) Unknown - VUS g.48882589G>C g.47970029G>C MCM4(NM_005914.4):c.1406G>C (p.S469T) - MCM4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1406G>C r.(?) p.(Ser469Thr) Unknown - VUS g.48882589G>C g.47970029G>C MCM4(NM_005914.4):c.1406G>C (p.S469T) - MCM4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578C>T r.(?) p.(=) Unknown - likely benign g.48883214C>T - MCM4(NM_182746.3):c.1578C>T (p.(Leu526=)) - MCM4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1817A>G r.(?) p.(Gln606Arg) Unknown - VUS g.48883917A>G - - - MCM4_000037 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1829G>A r.(?) p.(Arg610His) Parent #1 - VUS g.48883929G>A g.47971369G>A - - MCM4_000021 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs151044076 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.1829G>A r.(?) p.(Arg610His) Unknown - VUS g.48883929G>A - - - MCM4_000021 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.1948T>A r.(?) p.(Leu650Met) Unknown - benign g.48885436T>A g.47972876T>A MCM4(NM_005914.4):c.1948T>A (p.L650M) - MCM4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1956C>T r.(?) p.(Asp652=) Unknown - likely benign g.48885444C>T g.47972884C>T MCM4(NM_005914.4):c.1956C>T (p.D652=) - MCM4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2064G>A r.(?) p.(Lys688=) Unknown - likely benign g.48885552G>A g.47972992G>A MCM4(NM_005914.4):c.2064G>A (p.K688=) - MCM4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2064G>A r.(?) p.(Lys688=) Unknown - benign g.48885552G>A g.47972992G>A MCM4(NM_005914.4):c.2064G>A (p.K688=) - MCM4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2071A>G r.(?) p.(Ile691Val) Unknown - VUS g.48885559A>G - MCM4(NM_005914.4):c.2071A>G (p.I691V) - MCM4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2102G>A r.(?) p.(Arg701Gln) Unknown - likely benign g.48885590G>A - MCM4(NM_005914.4):c.2102G>A (p.R701Q) - MCM4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2243G>A r.(?) p.(Arg748Lys) Unknown - VUS g.48887400G>A - - - MCM4_000038 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2243G>A r.(?) p.(Arg748Lys) Unknown - VUS g.48887400G>A - - - MCM4_000038 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.2257G>C r.(?) p.(Val753Leu) Unknown - VUS g.48887414G>C g.47974854G>C MCM4(NM_005914.4):c.2257G>C (p.V753L) - MCM4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2295T>C r.(?) p.(His765=) Unknown - likely benign g.48887452T>C - MCM4(NM_005914.4):c.2295T>C (p.H765=) - MCM4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2330G>A r.(?) p.(Arg777Gln) Unknown - likely benign g.48887487G>A g.47974927G>A MCM4(NM_005914.4):c.2330G>A (p.R777Q) - MCM4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2417A>G r.(?) p.(Lys806Arg) Unknown - likely benign g.48888326A>G g.47975766A>G MCM4(NM_005914.4):c.2417A>G (p.K806R) - MCM4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2467C>G r.(?) p.(Leu823Val) Unknown - likely pathogenic g.48888376C>G g.47975816C>G NM_005914.3(MCM4):c.2467C>G p.(Leu823Val) - MCM4_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-107A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.2534G>A r.(?) p.(Arg845His) Unknown - likely benign g.48889280G>A - MCM4(NM_005914.4):c.2534G>A (p.R845H) - MCM4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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