### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MSH5) # 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}}" "MSH5" "mutS homolog 5 (E. coli)" "6" "p21.3" "unknown" "NG_011611.1" "UD_132085356594" "" "https://www.LOVD.nl/MSH5" "" "1" "7328" "4439" "603382" "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/MSH5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-09 14:52:27" "00000" "2025-05-05 21:14:00" ## 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}}" "00013953" "MSH5" "transcript variant 3" "001" "NM_002441.4" "" "NP_002432.1" "" "" "" "-286" "2652" "2505" "31707725" "31730455" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "06702" "POF13" "?Premature ovarian failure 13" "AR" "617442" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MSH5" "00201" "MSH5" "06702" ## 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}}" "00248213" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248235" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00303293" "" "" "" "1" "" "00006" "Beyens ESHG2020 C01.4" "" "M" "" "Turkey" "" "0" "" "" "" "PatM721" "00303295" "" "" "" "1" "" "00006" "Beyens ESHG2020 C01.4" "" "M" "" "Syria" "" "0" "" "" "" "PatM1529" "00403100" "" "" "" "1" "" "00006" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "analysis 96 unrelated men" "M" "" "Tunisia" "" "0" "" "" "" "P0355" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00248213" "00318" "00248235" "00318" "00303293" "00201" "00303295" "00201" "00403100" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 00318, 06702 ## 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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000187222" "00318" "00248213" "01474" "Unknown" "" "40y ductal breast cancer, subtype basal" "40y" "" "" "" "" "" "" "" "breast cancer" "" "0000187244" "00318" "00248235" "01474" "Unknown" "" "49y ductal breast cancer, subtype luminal A" "49y" "" "" "" "" "" "" "" "breast cancer" "" "0000230369" "00201" "00303293" "00006" "Familial, autosomal recessive" "" "see paper; ..., azoospermia" "" "" "" "" "" "" "" "" "male infertility" "" "0000230371" "00201" "00303295" "00006" "Familial, autosomal recessive" "" "see paper; ..., azoospermia" "" "" "" "" "" "" "" "" "male infertility" "" "0000295847" "00201" "00403100" "00006" "Familial, autosomal recessive" "" "left/right testis volume 10-15/10-15 mL; FSH 6.08 IU/L; testis meiotic spermatogenic arrest; sperm retrieval negative; no anosmia, no disorder of sex development, no abnormal secondary sex characteristics" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "" ## 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}}" "0000249318" "00248213" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249340" "00248235" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000304418" "00303293" "1" "00006" "00006" "2020-06-09 17:27:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304420" "00303295" "1" "00006" "00006" "2020-06-09 17:27:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404341" "00403100" "1" "00006" "00006" "2022-02-16 19:52:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000304418" "MSH5" "0000304420" "MSH5" "0000404341" "MSH5" ## 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 = 9 "{{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}}" "0000528268" "0" "50" "6" "31733544" "31733544" "subst" "0.0132125" "01804" "MSH5_000004" "g.31733544G>A" "" "" "" "VWA7(NM_025258.2):c.2503C>T (p.(Arg835Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31765767G>A" "" "VUS" "" "0000578071" "0" "70" "6" "31711970" "31711970" "subst" "0.000135929" "01474" "MSH5_000001" "g.31711970C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs147515280" "0" "" "" "g.31744193C>T" "" "VUS" "" "0000578098" "0" "70" "6" "31728554" "31728554" "subst" "0" "01474" "MSH5_000002" "g.31728554C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "" "0" "" "" "g.31760777C>T" "" "VUS" "" "0000610263" "0" "50" "6" "31721147" "31721147" "dup" "0" "01804" "MSH5_000006" "g.31721147dup" "" "" "" "MSH5(NM_002441.4):c.876_877insT (p.(Leu295SerfsTer75))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31753370dup" "" "VUS" "" "0000667860" "3" "70" "6" "31708318" "31708318" "dup" "0" "00006" "MSH5_000007" "g.31708318dup" "" "Beyens ESHG2020 C01.4" "" "" "" "Germline" "" "" "0" "" "" "g.31740541dup" "" "likely pathogenic (recessive)" "ACMG" "0000667861" "3" "70" "6" "31728511" "31728511" "del" "0" "00006" "MSH5_000008" "g.31728511del" "" "Beyens ESHG2020 C01.4" "" "" "" "Germline" "" "" "0" "" "" "g.31760734del" "" "likely pathogenic (recessive)" "ACMG" "0000667862" "3" "70" "6" "31728511" "31728511" "del" "0" "00006" "MSH5_000008" "g.31728511del" "" "Beyens ESHG2020 C01.4" "" "" "" "Germline" "" "" "0" "" "" "g.31760734del" "" "likely pathogenic (recessive)" "ACMG" "0000840011" "3" "70" "6" "31711803" "31711803" "subst" "0" "00006" "MSH5_000009" "g.31711803G>A" "" "{PMID:Kherraf 2022:35172124}, {DOI:Kherraf 2022:10.1016/j.ajhg.2022.01.011}" "" "NM_172166.4:c.537+1G>A" "" "Germline" "" "" "0" "" "" "g.31744026G>A" "" "likely pathogenic (recessive)" "" "0001035674" "0" "50" "6" "31729621" "31729621" "subst" "0" "01804" "MSH5_000010" "g.31729621C>T" "" "" "" "MSH5(NM_172166.4):c.2208C>T (p.(Asn736=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 MSH5 ## Count = 9 "{{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}}" "0000528268" "00013953" "50" "5741" "0" "5741" "0" "c.*3236G>A" "r.(=)" "p.(=)" "" "0000578071" "00013953" "70" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181*)" "" "0000578098" "00013953" "70" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Arg634*)" "" "0000610263" "00013953" "50" "882" "0" "882" "0" "c.882dup" "r.(?)" "p.(Leu295SerfsTer75)" "" "0000667860" "00013953" "70" "75" "0" "75" "0" "c.75dup" "r.(?)" "p.(Ser26Glnfs*42)" "" "0000667861" "00013953" "70" "1857" "0" "1857" "0" "c.1857del" "r.(?)" "p.(Ala620Glnfs*9" "" "0000667862" "00013953" "70" "1857" "0" "1857" "0" "c.1857del" "r.(?)" "p.(Ala620Glnfs*9)" "" "0000840011" "00013953" "70" "537" "1" "537" "1" "c.537+1G>A" "r.spl?" "p.?" "" "0001035674" "00013953" "50" "2208" "0" "2208" "0" "c.2208C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000249318" "0000578071" "0000249340" "0000578098" "0000304418" "0000667860" "0000304418" "0000667861" "0000304420" "0000667862" "0000404341" "0000840011"