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LOVD - Variant listings for BMP1

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+/+ 01 c.34G>C
    + c.34G>C
- Substitution Missense p.(Gly12Arg) - - BMP1_00002 OI Asharani et al., 2012 DNA SEQ The patient, whose parents are first cousins, is described as having an OI-like disease. An analysis of bone tissue from this patient (or from his sibling?) was presented subsequently by Hoyer-Kuhn et al., 2014. Turkish
+/+ 01 c.34G>C
    + c.34G>C
- Substitution Missense p.(Gly12Arg) - - BMP1_00002 AN_002123 OI III/IV Valencia et al., 2014, Spain:Madrid DNA SEQ - Pakistani
+/+ 01 c.34G>C
    + c.1839delC
- Substitution Missense p.(Gly12Arg) - - BMP1_00002 P2 OI IV Syx et al., 2015 DNA PCR, SEQ The BMP1 gene has two transcripts. The reported frameshifted protein product (p.(Asn614Thrfs*138)) is derived from the longer mTLD transcript (20 exons). The corresponding frameshift for the BMP transcript (16 exons) is p.(Asn614Thrfs*188). Portuguese
+/+ 01 c.34G>C
    + c.2188dupC
- Substitution Missense p.(Gly12Arg) - - BMP1_00002 P3 OI Syx et al., 2015 DNA PCR, SEQ Patient P3 has a brother (P4) harbouring the same sequence variants. Scottish
+/+ 01 c.34G>C
    + c.34G>C
- Substitution Missense p.(Gly12Arg) - - BMP1_00002 P6 OI Mrosk et al., 2018 DNA SEQ - Indian
+/+ 1i c.148+1G>A
    + c.1324G>T
- Substitution Splice site - - - BMP1_00016 OI XII Xu et al., 2019 DNA SEQ - Han Chinese
+/+ 06 c.747C>G
    + c.747C>G
- Substitution Missense p.(Phe249Leu) - - BMP1_00001 OI III Martínez-Glez et al., 2012, Spain:Madrid DNA PCR, SEQ - Egyptian
+/+ 06 c.808A>G
    + c.1297G>T
- Substitution Missense p.(Met270Val) - - BMP1_00004 smc OI III Cho et al., 2014, Korea (South) (Republic):Seoul DNA WES The substitution in the last base of exon 10 leads to exon skipping. Korean
+/+ 07 c.925delG
    + c.1492G>A
- Deletion Frameshift p.(Asp309Thrfs*54) - - BMP1_00008 P1 OI III Syx et al., 2015 DNA PCR, SEQ - Caucasian
+/+ 10 c.1297G>T
    + c.808A>G
- Substitution Splice site - - - BMP1_00005 smc OI III Cho et al., 2014, Korea (South) (Republic):Seoul DNA WES The substitution in the last base of exon 10 leads to exon skipping. Korean
+?/+ 11 c.1324G>T
    + c.148+1G>A
- Substitution Missense p.Asp441Tyr - - BMP1_00015 OI XII Xu et al., 2019 DNA SEQ - Han Chinese
+/+ 12 c.1492G>A
    + c.925delG
- Substitution Missense p.(Gly498Arg) - - BMP1_00009 P1 OI III Syx et al., 2015 DNA PCR, SEQ - Caucasian
+/+ 12 c.1530T>G
    + PLS3 (1)
- Substitution Missense p.(Cys510Trp) - - BMP1_00003 P1 XL Osteoporosis Fahiminiya et al., 2014 DNA PCR, SEQ The patient has a younger brother who harbours the same PLS3 variant. Their mother has been confirmed as being heterozygous for that variant. In addition, all three are heterozygous for the BMP1 variant. Although that variant is assessed as being deleterious, it does not account for the osteoporosis in the brothers. -
+/+ 14 c.1839delC
    + c.34G>C
- Deletion Frameshift p.(Asn614Thrfs*138) - - BMP1_00010 P2 OI IV Syx et al., 2015 DNA PCR, SEQ The BMP1 gene has two transcripts. The reported frameshifted protein product (p.(Asn614Thrfs*138)) is derived from the longer mTLD transcript (20 exons). The corresponding frameshift for the BMP transcript (16 exons) is p.(Asn614Thrfs*188). Portuguese
+/+ 15 c.2107G>C
    + c.*241T>C
- Substitution Splice site - - - BMP1_00007 P4 Bone fragility Fahiminiya et al., 2014 DNA WGS - French-Canadian
+/+ 16 c.2188dupC
    + c.34G>C
- Duplication Frameshift p.(Gln730Profs*?) - - BMP1_00011 P3 OI Syx et al., 2015 DNA PCR, SEQ Patient P3 has a brother (P4) harbouring the same sequence variants. Scottish
+/+? 17 c.2350C>G - Substitution Missense p.Arg784Gly - - BMP1_00017 OI 21 OI III Mohd Nawawi et al., 2018 DNA CGP WNT1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype. Malaysian
+/+ 20 c.*241T>C
    + c.*241T>C
- Substitution PolyA site - - - BMP1_00006 P1 Bone fragility Fahiminiya et al., 2014 DNA WES - French-Canadian
+/+ 20 c.*241T>C
    + c.*241T>C
- Substitution PolyA site - - - BMP1_00006 P2 Bone fragility Fahiminiya et al., 2014 DNA WGS - French-Canadian
+/+ 20 c.*241T>C
    + c.*241T>C
- Substitution PolyA site - - - BMP1_00006 P3 Bone fragility Fahiminiya et al., 2014 DNA WES - French-Canadian
+/+ 20 c.*241T>C
    + c.2107G>C
- Substitution PolyA site - - - BMP1_00006 P4 Bone fragility Fahiminiya et al., 2014 DNA WGS - French-Canadian
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Legend: [ BMP1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. BMP1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient