Full data view for gene MBTPS1

Information The variants shown are described using the NM_003791.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ID_report     

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+/. - c.(?_-43941)_(*56332_?)del r.0 p.0 Maternal (confirmed) ACMG pathogenic (recessive) g.(?_84031722)_(84193956_?)del g.(?_83998117)_(84160351_?)del 84031722_84193956del - MBTPS1_000014 - PubMed: Lucas-Castro 2026, Journal: Lucas-Castro 2026 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Blood WES SEDKF - PubMed: Lucas-Castro 2026, Journal: Lucas-Castro 2026 - M no Spain - - - - - 1 Elsa Lucas Castro
?/. - c.129G>C r.(?) p.(Leu43Phe) Unknown - VUS g.84135260C>G - MBTPS1(NM_003791.4):c.129G>C (p.(Leu43Phe)) - MBTPS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.163G>A r.(?) p.(Glu55Lys) Maternal (confirmed) - VUS g.84135226C>T g.84101621C>T - - MBTPS1_000026 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. - c.285dup r.285dup p.Asp96Ter Paternal (confirmed) - pathogenic (recessive) g.84132794dup g.84099189dup 285dupT - MBTPS1_000020 - PubMed: Kondo 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Kondo 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States - - - - - 1 Johan den Dunnen
?/. - c.569C>T r.(?) p.(Pro190Leu) Unknown - VUS g.84129263G>A - MBTPS1(NM_003791.4):c.569C>T (p.(Pro190Leu)) - MBTPS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.736+7_736+9delinsTTT r.(=) p.(=) Unknown - likely benign g.84127307_84127309delinsAAA - MBTPS1(NM_003791.4):c.736+7_736+9delinsTTT - MBTPS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.774C>T r.737_846del p.Leu247IlefsTer37 Maternal (confirmed) - likely pathogenic (recessive) g.84126865G>A g.84093260G>A - - MBTPS1_000024 variant predicted to affect ESE site; effect confirmed by mini-gene splicing assay PubMed: Yuan 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Yuan 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
?/. - c.932C>T r.(?) p.(Pro311Leu) Unknown - VUS g.84125368G>A - MBTPS1(NM_003791.4):c.932C>T (p.(Pro311Leu)) - MBTPS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1032-3T>C r.spl? p.? Unknown - likely benign g.84121068A>G - MBTPS1(NM_003791.4):c.1032-3T>C - MBTPS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1064T>G r.(?) p.(Val355Gly) Paternal (confirmed) - likely pathogenic (recessive) g.84121033A>C g.84087428A>C - - MBTPS1_000027 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Chen 2022chi 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. 9 c.1094A>G r.1094_1134del p.Asp365GlyfsTer12 Maternal (confirmed) - pathogenic (recessive) g.84121003T>C g.84087398T>C - - MBTPS1_000001 variant created splice donor site PubMed: Kondo 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Kondo 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States - - - - - 1 Johan den Dunnen
+/. 9 c.1094A>G r.(spl) p.(?) Both (homozygous) - pathogenic (recessive) g.84121003T>C g.84087398T>C - - MBTPS1_000001 - PubMed: Meyer 2020 RCV000767393.1 rs1226321681 Germline - - - - - DNA SEQ, SEQ-NG - WES SRS;RSS patient PubMed: Meyer 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany - - - - - 1 Johan den Dunnen
+?/. 9 c.1094A>G r.spl? p.(?) Maternal (confirmed) - likely pathogenic (recessive) g.84121003T>C g.84087398T>C A1094G - MBTPS1_000001 - PubMed: Raggio 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Raggio 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Uruguay - - - - - 1 Johan den Dunnen
-?/. - c.1134+8C>G r.(=) p.(=) Unknown - likely benign g.84120955G>C - MBTPS1(NM_003791.4):c.1134+8C>G - MBTPS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1214G>C r.(?) p.(Gly405Ala) Unknown - likely benign g.84118660C>G - MBTPS1(NM_003791.3):c.1214G>C (p.G405A) - MBTPS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286+4A>C r.spl? p.? Unknown - VUS g.84118584T>G - MBTPS1(NM_003791.4):c.1286+4A>C - MBTPS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1300C>T r.(?) p.(Arg434Cys) Unknown - VUS g.84115500G>A - MBTPS1(NM_003791.2):c.1300C>T (p.(Arg434Cys)) - MBTPS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1589A>G r.(?) p.(Asp530Gly) Paternal (confirmed) - VUS g.84108206T>C g.84074601T>C - - MBTPS1_000025 - PubMed: Chen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
?/. - c.1679G>A r.(?) p.(Gly560Asp) Unknown - VUS g.84104296C>T - MBTPS1(NM_003791.4):c.1679G>A (p.(Gly560Asp)) - MBTPS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.2072-2A>T r.(2072_2228del) p.(Thr692SerfsTer15) Maternal (confirmed) - likely pathogenic (recessive) g.84101430T>A g.84067825T>A - - MBTPS1_000030 effect on splicing predicted from mini-gene splicing assay PubMed: Chen 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat2 PubMed: Chen 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hispanic - - - - 1 Johan den Dunnen
?/. - c.2276A>G r.(?) p.(Asn759Ser) Unknown - VUS g.84100171T>C - MBTPS1(NM_003791.4):c.2276A>G (p.N759S) - MBTPS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.2353+3A>G r.2229_2353del p.Arg743SerTer39 Paternal (confirmed) ACMG pathogenic (recessive) g.84100091T>C g.84066486T>C - - MBTPS1_000013 Splicing assays of the variant, both from RNA from the father's blood and with a minigene assay confirmed aberrant splicing leading to skipping of MBTPS1 exon 17, resulting in a frameshift PubMed: Lucas-Castro 2026, Journal: Lucas-Castro 2026 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Blood WES SEDKF - PubMed: Lucas-Castro 2026, Journal: Lucas-Castro 2026 - M no Spain - - - - - 1 Elsa Lucas Castro
+/. - c.2355del r.(?) p.(Met785Ilefs*18) Paternal (confirmed) - pathogenic (recessive) g.84099371del g.84065766del 2355delG - MBTPS1_000031 - PubMed: Raggio 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Raggio 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Uruguay - - - - - 1 Johan den Dunnen
?/. - c.2522T>C r.(?) p.(Ile841Thr) Unknown - VUS g.84096960A>G - MBTPS1(NM_003791.4):c.2522T>C (p.(Ile841Thr)) - MBTPS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2628G>A r.(?) p.(Pro876=) Unknown - likely benign g.84094363C>T - MBTPS1(NM_003791.3):c.2628G>A (p.P876=) - MBTPS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2634C>A r.(?) p.(Ser878Arg) Both (homozygous) - VUS g.84094357G>T g.84060752G>T - - MBTPS1_000022 - PubMed: Alotaibi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Alotaibi 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.2656C>T r.(?) p.(Gln886Ter) Paternal (confirmed) ACMG likely pathogenic (recessive) g.84094335G>A g.84060730G>A - - MBTPS1_000023 ACMG PVS1,  PM2 PubMed: Yuan 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Yuan 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
-?/. - c.2941G>A r.(?) p.(Gly981Ser) Unknown - likely benign g.84089631C>T - MBTPS1(NM_003791.2):c.2941G>A (p.(Gly981Ser)) - MBTPS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.2948G>A r.(?) p.(Trp983Ter) Both (homozygous) - pathogenic (recessive) g.84089624C>T g.84056019C>T - - MBTPS1_000021 - PubMed: Carvalho 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia patient PubMed: Carvalho 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Brazil - - - - - 1 Johan den Dunnen
-/. - c.2950G>A r.(?) p.(Asp984Asn) Unknown - benign g.84089622C>T g.84056017C>T MBTPS1(NM_003791.2):c.2950G>A (p.(Asp984Asn)), MBTPS1(NM_003791.3):c.2950G>A (p.D984N) - MBTPS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2950G>A r.(?) p.(Asp984Asn) Unknown - likely benign g.84089622C>T - MBTPS1(NM_003791.2):c.2950G>A (p.(Asp984Asn)), MBTPS1(NM_003791.3):c.2950G>A (p.D984N) - MBTPS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3007C>T r.3007C>T p.Pro1003Ser Unknown - VUS (!) g.84088206G>A g.84054601G>A - - MBTPS1_000032 variant reported as associated to the phenotype PubMed: Schweitzer 2019 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? patient PubMed: Schweitzer 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.3029C>A r.(?) p.(Ala1010Asp) Unknown - VUS g.84088184G>T - MBTPS1(NM_003791.4):c.3029C>A (p.(Ala1010Asp)) - MBTPS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3157T>C r.(?) p.(Ter1053ArgextTer51) Maternal (confirmed) - likely pathogenic (recessive) g.84088056A>G g.84054451A>G (Ter1053Arg) - MBTPS1_000028 - PubMed: Chen 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Chen 2022chi 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.3159A>T r.(?) p.(Ter1053CysextTer51) Paternal (confirmed) - likely pathogenic (recessive) g.84088054T>A g.84054449T>A (Ter1053Cys) - MBTPS1_000029 - PubMed: Chen 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat2 PubMed: Chen 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Hispanic - - - - 1 Johan den Dunnen
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