### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCR) # 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}}" "BCR" "breakpoint cluster region" "22" "q11" "unknown" "NG_009244.1" "UD_132119056361" "" "https://www.LOVD.nl/BCR" "" "1" "1014" "613" "151410" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BCR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-24 12:20:11" "00000" "2024-10-29 21:08:56" ## 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}}" "00003345" "BCR" "transcript variant 1" "001" "NM_004327.3" "" "NP_004318.3" "" "" "" "-596" "6331" "3816" "23522552" "23660224" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "02746" "CML" "leukemia, myeloid, chronic (CML)" "SMu" "608232" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03237" "ALL" "leukemia, lymphoid, acute (ALL)" "" "613065" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BCR" "02746" "BCR" "03237" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00170837" "" "" "" "1" "" "00006" "{PMID:18503828 2008:18503828}" "" "F" "" "Italy" "" "0" "" "" "" "18503828-Pat" "00293070" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00170837" "00908" "00293070" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00908, 02746, 03237 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000135697" "00908" "00170837" "00006" "-" "" "see paper; ..." "" "67y" "" "" "" "" "" "" "AML" "acute myeloid leukemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000171718" "00170837" "1" "00006" "00006" "2018-07-24 12:42:14" "" "" "FISH;RT-PCR" "DNA;RNA" "" "" "0000294238" "00293070" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000171718" "BCR" "0000171718" "JAK2" ## 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 = 24 "{{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}}" "0000248873" "0" "10" "22" "23627369" "23627369" "subst" "0.814545" "02325" "BCR_000009" "g.23627369A>G" "" "" "" "BCR(NM_004327.4):c.2387A>G (p.N796S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23285182A>G" "" "benign" "" "0000249265" "0" "10" "22" "23585132" "23585132" "subst" "0" "02325" "BCR_000005" "g.23585132A>G" "" "" "" "BCR(NM_004327.4):c.1280-10854A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23242945A>G" "" "benign" "" "0000249266" "0" "10" "22" "23632513" "23632513" "subst" "0.283067" "02325" "BCR_000010" "g.23632513A>G" "" "" "" "BCR(NM_004327.4):c.2708-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23290326A>G" "" "benign" "" "0000259244" "0" "10" "22" "23541488" "23541488" "subst" "0" "02325" "BCR_000004" "g.23541488C>T" "" "" "" "BCR(NM_004327.4):c.1279+17062C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23199301C>T" "" "benign" "" "0000259245" "0" "10" "22" "23637200" "23637200" "subst" "0.317392" "02325" "BCR_000011" "g.23637200T>C" "" "" "" "BCR(NM_004327.4):c.2881-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23295013T>C" "" "benign" "" "0000259246" "0" "10" "22" "23652503" "23652503" "subst" "0.113725" "02325" "BCR_000012" "g.23652503T>C" "" "" "" "BCR(NM_004327.4):c.3073-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23310316T>C" "" "benign" "" "0000259247" "0" "10" "22" "23523630" "23523630" "subst" "0.280606" "02325" "BCR_000003" "g.23523630C>A" "" "" "" "BCR(NM_004327.4):c.483C>A (p.I161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23181443C>A" "" "benign" "" "0000328923" "0" "50" "22" "23653976" "23653979" "dup" "0" "01804" "BCR_000014" "g.23653976_23653979dup" "" "" "" "BCR(NM_004327.3):c.3274_3275insCCGG (p.(Val1094ArgfsTer17)), BCR(NM_004327.3):c.3275_3278dupCCGG (p.V1094Rfs*17), BCR(NM_004327.4):c.3275_3278dupCC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23311789_23311792dup" "" "VUS" "" "0000328924" "0" "50" "22" "23654017" "23654017" "subst" "0" "01804" "BCR_000015" "g.23654017G>A" "" "" "" "BCR(NM_004327.3):c.3316G>A (p.(Asp1106Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23311830G>A" "" "VUS" "" "0000392014" "0" "90" "22" "0" "0" "" "0" "00006" "BCR_000017" "p.?" "" "{PMID:Cirmena 2008:18503828}" "" "" "fusion transcript from reciprocal translocation implying a double break on chromosome 9" "Somatic" "-" "" "0" "" "t(9;22)(p24;q11)" "" "" "pathogenic" "" "0000571530" "0" "50" "22" "23653976" "23653979" "dup" "0" "01943" "BCR_000014" "g.23653976_23653979dup" "" "" "" "BCR(NM_004327.3):c.3274_3275insCCGG (p.(Val1094ArgfsTer17)), BCR(NM_004327.3):c.3275_3278dupCCGG (p.V1094Rfs*17), BCR(NM_004327.4):c.3275_3278dupCC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23311789_23311792dup" "" "VUS" "" "0000571532" "0" "50" "22" "23653988" "23653988" "subst" "0" "01804" "BCR_000020" "g.23653988C>G" "" "" "" "BCR(NM_004327.3):c.3287C>G (p.(Thr1096Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23311801C>G" "" "VUS" "" "0000650927" "1" "10" "22" "23634790" "23634790" "subst" "0.00475181" "03575" "BCR_000018" "g.23634790G>A" "21/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs2229038}" "Germline" "" "rs2229038" "0" "" "" "g.23292603G>A" "" "benign" "" "0000681804" "0" "50" "22" "23523185" "23523185" "subst" "0" "01943" "BCR_000022" "g.23523185C>T" "" "" "" "BCR(NM_004327.3):c.38C>T (p.A13V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681805" "0" "50" "22" "23630353" "23630353" "subst" "8.12176E-5" "01943" "BCR_000023" "g.23630353A>C" "" "" "" "BCR(NM_004327.3):c.2596A>C (p.K866Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856072" "0" "30" "22" "23653971" "23653971" "subst" "0" "01943" "BCR_000024" "g.23653971C>T" "" "" "" "BCR(NM_004327.3):c.3270C>T (p.R1090=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895606" "0" "50" "22" "23523997" "23523997" "subst" "0" "02325" "BCR_000025" "g.23523997G>A" "" "" "" "BCR(NM_004327.4):c.850G>A (p.V284I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895607" "0" "50" "22" "23631755" "23631755" "subst" "8.12295E-6" "02325" "BCR_000026" "g.23631755C>T" "" "" "" "BCR(NM_004327.4):c.2654C>T (p.S885L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915491" "0" "50" "22" "23653976" "23653979" "dup" "0" "02325" "BCR_000014" "g.23653976_23653979dup" "" "" "" "BCR(NM_004327.3):c.3274_3275insCCGG (p.(Val1094ArgfsTer17)), BCR(NM_004327.3):c.3275_3278dupCCGG (p.V1094Rfs*17), BCR(NM_004327.4):c.3275_3278dupCC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970404" "0" "50" "22" "23615941" "23615941" "subst" "4.06105E-6" "02325" "BCR_000027" "g.23615941A>C" "" "" "" "BCR(NM_004327.4):c.2095A>C (p.M699L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005946" "0" "30" "22" "23629412" "23629412" "subst" "0" "02325" "BCR_000028" "g.23629412C>T" "" "" "" "BCR(NM_004327.4):c.2473C>T (p.L825=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005947" "0" "50" "22" "23656786" "23656786" "subst" "3.71416E-5" "02325" "BCR_000029" "g.23656786C>G" "" "" "" "BCR(NM_004327.4):c.3611C>G (p.A1204G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015916" "0" "50" "22" "23523891" "23523891" "subst" "0" "02325" "BCR_000030" "g.23523891C>G" "" "" "" "BCR(NM_004327.4):c.744C>G (p.D248E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015917" "0" "50" "22" "23524386" "23524386" "subst" "0.00100681" "02325" "BCR_000031" "g.23524386C>G" "" "" "" "BCR(NM_004327.4):c.1239C>G (p.I413M)" "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 BCR ## Count = 24 "{{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}}" "0000248873" "00003345" "10" "2387" "0" "2387" "0" "c.2387A>G" "r.(?)" "p.(Asn796Ser)" "" "0000249265" "00003345" "10" "1280" "-10854" "1280" "-10854" "c.1280-10854A>G" "r.(=)" "p.(=)" "" "0000249266" "00003345" "10" "2708" "-13" "2708" "-13" "c.2708-13A>G" "r.(=)" "p.(=)" "" "0000259244" "00003345" "10" "1279" "17062" "1279" "17062" "c.1279+17062C>T" "r.(=)" "p.(=)" "" "0000259245" "00003345" "10" "2881" "-11" "2881" "-11" "c.2881-11T>C" "r.(=)" "p.(=)" "" "0000259246" "00003345" "10" "3073" "-8" "3073" "-8" "c.3073-8T>C" "r.(=)" "p.(=)" "" "0000259247" "00003345" "10" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(Ile161=)" "" "0000328923" "00003345" "50" "3275" "0" "3278" "0" "c.3275_3278dup" "r.(?)" "p.(Val1094ArgfsTer17)" "" "0000328924" "00003345" "50" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Asp1106Asn)" "" "0000392014" "00003345" "90" "0" "0" "0" "0" "c.?" "r.2684_*2514delins[cgggagcagcagaagaa;NM_004972.2:r.1336_*1392]" "p.Ile895_Val1271delins[ThrGlyAlaAlaGluGlu;NP_004963.1:p.Val446_Gly1132]" "13" "0000571530" "00003345" "50" "3275" "0" "3278" "0" "c.3275_3278dup" "r.(?)" "p.(Val1094ArgfsTer17)" "" "0000571532" "00003345" "50" "3287" "0" "3287" "0" "c.3287C>G" "r.(?)" "p.(Thr1096Arg)" "" "0000650927" "00003345" "10" "2845" "0" "2845" "0" "c.2845G>A" "r.(?)" "p.(Val949Ile)" "" "0000681804" "00003345" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" "" "0000681805" "00003345" "50" "2596" "0" "2596" "0" "c.2596A>C" "r.(?)" "p.(Lys866Gln)" "" "0000856072" "00003345" "30" "3270" "0" "3270" "0" "c.3270C>T" "r.(?)" "p.(Arg1090=)" "" "0000895606" "00003345" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Val284Ile)" "" "0000895607" "00003345" "50" "2654" "0" "2654" "0" "c.2654C>T" "r.(?)" "p.(Ser885Leu)" "" "0000915491" "00003345" "50" "3275" "0" "3278" "0" "c.3275_3278dup" "r.(?)" "p.(Val1094ArgfsTer17)" "" "0000970404" "00003345" "50" "2095" "0" "2095" "0" "c.2095A>C" "r.(?)" "p.(Met699Leu)" "" "0001005946" "00003345" "30" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(=)" "" "0001005947" "00003345" "50" "3611" "0" "3611" "0" "c.3611C>G" "r.(?)" "p.(Ala1204Gly)" "" "0001015916" "00003345" "50" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Asp248Glu)" "" "0001015917" "00003345" "50" "1239" "0" "1239" "0" "c.1239C>G" "r.(?)" "p.(Ile413Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000171718" "0000392014" "0000294238" "0000650927"