### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCM8) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "MCM8" "minichromosome maintenance complex component 8" "20" "p12.3" "unknown" "NC_000020.10" "UD_132439370096" "" "https://www.LOVD.nl/MCM8" "" "1" "16147" "84515" "608187" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MCM8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 23:03:21" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025695" "MCM8" "transcript variant 1" "003" "NM_032485.5" "" "NP_115874.3" "" "" "" "-377" "3338" "2523" "5931298" "5975852" "00006" "2022-02-16 23:03:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "04571" "POF10" "ovarian failure, premature?, type 10 (POF-10)" "AR" "612885" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MCM8" "04187" "MCM8" "04571" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00403095" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Tunisia" "" "0" "" "" "" "P0370" "00403096" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Tunisia" "" "0" "" "" "" "P0281" "00403114" "" "" "" "3" "" "00006" "{PMID:AlAsiri 2015:25437880}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "family" "00403115" "" "" "" "2" "" "00006" "{PMID:Tenenbaum-Rakover 2015:25873734}" "5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Arab" "FamA" "00403116" "" "" "" "5" "" "00006" "{PMID:Tenenbaum-Rakover 2015:25873734}" "4-generation family, 5 affected (5F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Israel" "" "0" "" "" "Arab" "FamB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00403095" "00201" "00403096" "00201" "00403114" "04187" "00403115" "05895" "00403116" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04187, 04571, 05895 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000295842" "00201" "00403095" "00006" "Familial, autosomal recessive" "" "left/right testis volume 5-10/5-10 mL; FSH 16.7 IU/L; testis Sertoli cells only; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000295843" "00201" "00403096" "00006" "Familial, autosomal recessive" "" "left/right testis volume <5/<5 mL; FSH 27 IU/L; testis Sertoli cells only; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000295861" "04187" "00403114" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary amenorrhea, hypothyroidism, hypergonadotropic hypogonadism" "" "" "" "" "" "" "" "POF10" "ovarian failure" "0000295862" "05895" "00403115" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "gonadal failure" "0000295863" "04187" "00403116" "00006" "Familial, autosomal recessive" "" "see paper; ..., delayed puberty, primary amenorrhoea, hypergonadotrophic hypogonadism, absence of ovaries, small uterus" "" "" "" "" "" "" "" "POF10" "premature ovarian failure" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000404336" "00403095" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404337" "00403096" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404355" "00403114" "1" "00006" "00006" "2022-02-16 23:10:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404356" "00403115" "1" "00006" "00006" "2022-02-16 23:18:50" "00006" "2022-02-16 23:36:48" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000404357" "00403116" "1" "00006" "00006" "2022-02-16 23:33:21" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000404336" "MCM8" "0000404337" "MCM8" "0000404356" "MCM8" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 26 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000570135" "0" "50" "20" "5958544" "5958544" "subst" "0" "01943" "MCM8_000001" "g.5958544G>T" "" "" "" "MCM8(NM_001281521.1):c.1538G>T (p.R513L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5977898G>T" "" "VUS" "" "0000618245" "0" "30" "20" "5935823" "5935823" "subst" "3.65652E-5" "01943" "MCM8_000002" "g.5935823A>G" "" "" "" "MCM8(NM_001281521.1):c.412A>G (p.I138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5955177A>G" "" "likely benign" "" "0000624182" "0" "50" "20" "5935893" "5935893" "subst" "0.00105393" "01943" "MCM8_000003" "g.5935893A>G" "" "" "" "MCM8(NM_001281520.1):c.482A>G (p.(His161Arg)), MCM8(NM_001281521.1):c.482A>G (p.H161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5955247A>G" "" "VUS" "" "0000840006" "3" "70" "20" "5935893" "5935893" "subst" "0" "00006" "MCM8_000004" "g.5935893A>C" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_001281520.2:c.482A>C" "" "Germline" "" "" "0" "" "" "g.5955247A>C" "" "likely pathogenic (recessive)" "" "0000840019" "3" "70" "20" "5935893" "5935893" "subst" "0" "00006" "MCM8_000004" "g.5935893A>C" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_001281520.2:c.482A>C" "" "Germline" "" "" "0" "" "" "g.5955247A>C" "" "likely pathogenic (recessive)" "" "0000840038" "3" "90" "20" "5935857" "5935857" "subst" "0" "00006" "MCM8_000005" "g.5935857C>G" "" "{PMID:AlAsiri 2015:25437880}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840040" "3" "90" "20" "5966567" "5966567" "subst" "4.06296E-6" "00006" "MCM8_000006" "g.5966567G>A" "" "{PMID:Tenenbaum-Rakover 2015:25873734}" "" "IVS14-1G>A" "" "Germline" "yes" "rs138761187" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840041" "3" "90" "20" "5958596" "5958597" "ins" "0" "00006" "MCM8_000007" "g.5958596_5958597insAT" "" "{PMID:Tenenbaum-Rakover 2015:25873734}" "" "1469_1470insTA" "" "Germline" "yes" "" "0" "" "" ".5977950_5977951insAT" "" "pathogenic (recessive)" "" "0000855900" "0" "50" "20" "5966626" "5966626" "subst" "0.00041424" "02325" "MCM8_000009" "g.5966626G>T" "" "" "" "MCM8(NM_032485.6):c.2012G>T (p.G671V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866552" "0" "70" "20" "5965647" "5965647" "subst" "2.03982E-5" "01943" "MCM8_000008" "g.5965647G>C" "" "" "" "MCM8(NM_001281521.1):c.2073+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895393" "0" "30" "20" "5935329" "5935329" "subst" "0.00267794" "02326" "TRMT6_000002" "g.5935329A>T" "" "" "" "MCM8(NM_032485.5):c.329A>T (p.Y110F), MCM8(NM_032485.6):c.329A>T (p.(Tyr110Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915415" "0" "10" "20" "5935303" "5935303" "subst" "0.0426739" "01804" "TRMT6_000003" "g.5935303A>C" "" "" "" "MCM8(NM_001281520.1):c.303A>C (p.(Lys101Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915416" "0" "50" "20" "5935893" "5935893" "subst" "0.00105393" "01804" "MCM8_000003" "g.5935893A>G" "" "" "" "MCM8(NM_001281520.1):c.482A>G (p.(His161Arg)), MCM8(NM_001281521.1):c.482A>G (p.H161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915417" "0" "10" "20" "5974265" "5974265" "subst" "0.043559" "01804" "MCM8_000010" "g.5974265A>G" "" "" "" "MCM8(NM_001281520.1):c.2354A>G (p.(Asn785Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927035" "0" "50" "20" "5935825" "5935825" "subst" "0.00628179" "01804" "TRMT6_000004" "g.5935825A>G" "" "" "" "MCM8(NM_001281520.1):c.414A>G (p.(Ile138Met)), MCM8(NM_032485.5):c.414A>G (p.I138M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951462" "0" "10" "20" "5935825" "5935825" "subst" "0.00628179" "02326" "TRMT6_000004" "g.5935825A>G" "" "" "" "MCM8(NM_001281520.1):c.414A>G (p.(Ile138Met)), MCM8(NM_032485.5):c.414A>G (p.I138M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027332" "0" "50" "20" "5967973" "5967973" "subst" "0.000775542" "02327" "MCM8_000011" "g.5967973G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043460" "0" "30" "20" "5935329" "5935329" "subst" "0.00267794" "01804" "TRMT6_000002" "g.5935329A>T" "" "" "" "MCM8(NM_032485.5):c.329A>T (p.Y110F), MCM8(NM_032485.6):c.329A>T (p.(Tyr110Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043461" "0" "10" "20" "5937833" "5937833" "subst" "0.00829655" "02327" "MCM8_000012" "g.5937833A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043462" "0" "10" "20" "5948540" "5948540" "subst" "0.00811845" "02327" "MCM8_000013" "g.5948540T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043463" "0" "50" "20" "5965599" "5965599" "subst" "4.06365E-6" "02327" "MCM8_000014" "g.5965599T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046784" "0" "50" "20" "5933130" "5933130" "subst" "0.00145853" "02327" "TRMT6_000005" "g.5933130A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046785" "0" "50" "20" "5935893" "5935893" "subst" "0.00105393" "02327" "MCM8_000003" "g.5935893A>G" "" "" "" "MCM8(NM_001281520.1):c.482A>G (p.(His161Arg)), MCM8(NM_001281521.1):c.482A>G (p.H161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046786" "0" "10" "20" "5943956" "5943956" "subst" "0.0232408" "02327" "MCM8_000015" "g.5943956G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046787" "0" "10" "20" "5948542" "5948542" "subst" "0.0229522" "02327" "MCM8_000016" "g.5948542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046788" "0" "30" "20" "5953752" "5953752" "subst" "0.00215645" "02327" "MCM8_000017" "g.5953752C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MCM8 ## Count = 26 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000570135" "00025695" "50" "1418" "0" "1418" "0" "c.1418G>T" "r.(?)" "p.(Arg473Leu)" "" "0000618245" "00025695" "30" "412" "0" "412" "0" "c.412A>G" "r.(?)" "p.(Ile138Val)" "" "0000624182" "00025695" "50" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(His161Arg)" "" "0000840006" "00025695" "70" "482" "0" "482" "0" "c.482A>C" "r.(?)" "p.(His161Pro)" "" "0000840019" "00025695" "70" "482" "0" "482" "0" "c.482A>C" "r.(?)" "p.(His161Pro)" "" "0000840038" "00025695" "90" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Pro149Arg)" "" "0000840040" "00025695" "90" "1954" "-1" "1954" "-1" "c.1954-1G>A" "r.[1954del,1954_1992del, 1954_2163del]" "p.[Val652Trpfs*6,Val652_Gln664del,Val652_Glu721del]" "15i" "0000840041" "00025695" "90" "1470" "0" "1471" "0" "c.1470_1471insAT" "r.(?)" "p.(Leu491Ilefs*88)" "" "0000855900" "00025695" "50" "2012" "0" "2012" "0" "c.2012G>T" "r.(?)" "p.(Gly671Val)" "" "0000866552" "00025695" "70" "1953" "1" "1953" "1" "c.1953+1G>C" "r.spl?" "p.?" "" "0000895393" "00025695" "30" "329" "0" "329" "0" "c.329A>T" "r.(?)" "p.(Tyr110Phe)" "" "0000915415" "00025695" "10" "303" "0" "303" "0" "c.303A>C" "r.(?)" "p.(Lys101Asn)" "" "0000915416" "00025695" "50" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(His161Arg)" "" "0000915417" "00025695" "10" "2354" "0" "2354" "0" "c.2354A>G" "r.(?)" "p.(Asn785Ser)" "" "0000927035" "00025695" "50" "414" "0" "414" "0" "c.414A>G" "r.(?)" "p.(Ile138Met)" "" "0000951462" "00025695" "10" "414" "0" "414" "0" "c.414A>G" "r.(?)" "p.(Ile138Met)" "" "0001027332" "00025695" "50" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Ala737Thr)" "" "0001043460" "00025695" "30" "329" "0" "329" "0" "c.329A>T" "r.(?)" "p.(Tyr110Phe)" "" "0001043461" "00025695" "10" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Asn183Ser)" "" "0001043462" "00025695" "10" "1092" "0" "1092" "0" "c.1092T>C" "r.(?)" "p.(=)" "" "0001043463" "00025695" "50" "1906" "0" "1906" "0" "c.1906T>C" "r.(?)" "p.(Ser636Pro)" "" "0001046784" "00025695" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asp70Gly)" "" "0001046785" "00025695" "50" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(His161Arg)" "" "0001046786" "00025695" "10" "826" "0" "826" "0" "c.826G>C" "r.(?)" "p.(Ala276Pro)" "" "0001046787" "00025695" "10" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Ser365Asn)" "" "0001046788" "00025695" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000404336" "0000840006" "0000404337" "0000840019" "0000404355" "0000840038" "0000404356" "0000840040" "0000404357" "0000840041"