Full data view for gene COL1A1


Osteogenesis Imperfecta Variant Database

Information The variants shown are described using the NM_000088.3 transcript reference sequence.

4614 entries on 47 pages. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

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Protein     

Predicted     

Legacy protein change     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Owner     
+/. _1_43i c.-126_(3207+1_3208-1){2} r.0? p.0 - - Unknown - pathogenic (dominant) g.(48265511_48265890)_(48279000_?)dup g.(50188150_50188529)_(50201639_?)dup - - COL1A1_001137 multi-exon deletion encompassing exon 1; haploinsufficiency is a known dominant pathogenic mechanism in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_6i c.-126_(543+33_544-42){0} r.0? p.0 - - Unknown - pathogenic (dominant) g.? - - - COL1A1_000992 multi-exon deletion encompassing exon 1; haploinsufficiency is a known dominant pathogenic mechanism in COL1A2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_51_ c.-126_*1406{0} r.0 p.0 - - Unknown - pathogenic (dominant) g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 whole gene deletion; haploinsufficiency is a known dominant pathogenic mechanism in COL1A2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_51_ c.-1052769_*563480del r.0? p.0? deletion, large - Unknown - pathogenic g.47699383_49331643del - GRCh37 chr17:g.47699383_49331643del - COL1A1_000904 - DECIPHER database - - Germline/De novo (untested) - - - - - DNA ? - - ? - DECIPHER database The deletion in this patient spans 43 genes including COL1A1. The patient phenotype is described as Delayed speech and language development, Joint laxity,Kyphosis and Osteoporosis. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0 p.0 - - Parent #1 - pathogenic g.(?_48261457)_(48278995_?)del g.(?_50184096)_(50201634_?)del del whole gene - COL1A1_000000 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam39 PubMed: Liu 2017 analysis 101 unrelated OI families M - China - - - - - 1 Johan den Dunnen
+/? _1_43i c.-126_(3207+1_3208-1){2} r.0? p.0? other/complex - Unknown - VUS g.(48265511_48265890)_(48279000_?)dup g.(50188150_50188529)_(50201639_?)dup dup ex1-43 - COL1A1_001137 duplication covered exons 1–43, its boundary was confirmed by real-time quantitative PCR PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - DNA SEQ-NG - WGS OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ _1_6i c.-126_(543+33_544-42){0} r.? p.(?) deletion, multi exon - Unknown - pathogenic g.? - - - COL1A1_000992 - - - - Unknown - - - - - DNA MLPA - - OI, OI4 - - The patient harbours a deletion of exons 1 to 6. The 5´ break-point lies somewhere 5´ to the start of transcription. The 3´ break-point lies somewhere within intron 6 between the +33 and -42 positions. - - - - - - - - 1 Margherita Maioli
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_47332514)_(49565743_?)del - GRCh37 chr17:g.47332514_49565743del - COL1A1_000905 - PubMed: Bardai et al., 2016 - - Unknown - - - - - DNA arrayCGH, SEQ-NG, PCR, SEQ - - OI, OI1 - PubMed: Bardai et al., 2016 The deletion in this patient spans 47 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - - - - Unknown - - - - - DNA MLPA - - OI, OI1 - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - PubMed: van Dijk et al., 2010 - - Unknown - - - - - DNA MLPA - - OI, OI1 - PubMed: van Dijk et al., 2010 This is patient I.1 in family 4 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - 1 Gerard Pals
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - PubMed: van Dijk et al., 2010 - - Unknown - - - - - DNA MLPA - - OI, OI1 - PubMed: van Dijk et al., 2010 This is patient I.2 in family 2 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - 1 Gerard Pals
+/? _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - VUS g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - - - - Unknown - - - - - DNA MLPA - - OI, OI1 - - Amsterdam patient ID: VU3 - - - - - - - - 1 Gerard Pals
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - PubMed: van Dijk et al., 2010 - - Unknown - - - - - DNA MLPA - - OI, OI1 - PubMed: van Dijk et al., 2010 This is patient I.2 in family 3 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - 1 Gerard Pals
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - PubMed: van Dijk et al., 2010 - - Unknown - - - - - DNA MLPA - - OI, OI1 - PubMed: van Dijk et al., 2010 This patient II.1 in family 1 in {PMID21113976:van Dijk et al., 2010} - - - - - - - - 1 Gerard Pals
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - PubMed: Mannstadt et al., 2014 - - Unknown - - - - - DNA arrayCGH - - OI, OI1 - PubMed: Mannstadt et al., 2014 The patient has a 1.035 Mb deletion encompassing at least 28 genes including COL1A1. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000617 - PubMed: Liu et al., 2017 - - Unknown - - - - - DNA SEQ - - OI, OI4 - PubMed: Liu et al., 2017 - - - - Chinese - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0? deletion, large - Paternal (confirmed) - pathogenic g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del chr17q21.33_q23.1del - COL1A1_000366 - PubMed: Pollitt et al., 2006 - - Unknown - - - - - DNA FISH - - OI, OI1 - PubMed: Pollitt et al., 2006 This patient also had micrognathia and cleft palate (Robin sequence), marfanoid features, blue sclerae and had a fracture at birth with osteopaenia on X-rays.The deletion was demonstrated by FISH analysis, but the identities of the non-hybridising probes are not given. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_47554863)_(49471989_?)del - GRCh37 chr17:g.47554863_49471989del - COL1A1_000903 - DECIPHER database - - Germline/De novo (untested) - - - - - DNA ? - - ? - DECIPHER database The deletion in this patient spans 46 genes including COL1A1. The patient phenotype is described as Abnormality of the esophagus, Abnormality of the face and Intellectual disability. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48099388)_(49348322_?)del - GRCh37 chr17:g.48099388_49348322del - COL1A1_000906 - PubMed: Bardai et al., 2016 - - Unknown - - - - - DNA arrayCGH, SEQ-NG, PCR, SEQ - - OI, OI1 - PubMed: Bardai et al., 2016 The deletion in this patient spans 34 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48211636)_(48289249_?)del - GRCh37 chr17:g.48211636_48289249del - COL1A1_000908 - PubMed: Bardai et al., 2016 - - Unknown - - - - - DNA arrayCGH, SEQ-NG, PCR, SEQ - - OI, OI1 - PubMed: Bardai et al., 2016 The deletion in this patient spans 4 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0? deletion, large - Paternal (confirmed) - pathogenic (dominant) g.48237916_48666857delinsGTGGCCA - - - COL1A1_001605 gross 428941bp deletion revealed by MLPA, breakpoints validated by real-time quantitative PCR and long-range PCR PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - DNA arrayCGH, MLPA, PCR, SEQ, SEQ-NG - WGS OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48242601)_(48379926_?)del - GRCh37 chr17:g.48242601_48379926del - COL1A1_000907 - PubMed: Bardai et al., 2016 - - Unknown - - - - - DNA arrayCGH, SEQ-NG, PCR, SEQ - - OI, OI1 - PubMed: Bardai et al., 2016 The deletion in this patient spans 4 genes including COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0 deletion, large - Unknown - pathogenic g.(?_48261783)_(48280296_?)del - GRCh37 chr17:g.48261783_48280296del - COL1A1_000909 - PubMed: Bardai et al., 2016 - - Unknown - - - - - DNA arrayCGH, SEQ-NG, PCR, SEQ - - OI, OI1 - PubMed: Bardai et al., 2016 The deletion in this patient spans just COL1A1.The technique used was the custom NGS Gene panel. - - - - - - - - 1 Raymond Dalgleish
+/+ _1_51_ c.-126_*1406{0} r.0? p.0? deletion, large - Unknown - pathogenic g.(?_47554863)_(50957958_?)del - NCBI36.1 chr17:g.44909862_48312957del - COL1A1_000910 - PubMed: Harbuz et al., 2013 - - Unknown - - - - - DNA arrayCGH - - OI - PubMed: Harbuz et al., 2013 The patient has an unbalanced translocation involving chromosomes 7 and 17 with a deletion of 17q21.33-q22 which spans the COL1A1 gene. - - - - - - - - 1 Raymond Dalgleish
+/. _1_51_ c.-126_*1406{0} r.0 p.0 - - Unknown - pathogenic (dominant) g.(?_48261457)_(48279000_?)del g.(?_50184096)_(50201639_?)del - - COL1A1_000366 - PubMed: Leguiller 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France OI1 OI NB5 PubMed: Leguiller 2021 - M ? - - >09y - - - 1 Kim Worring
+/+ 1 c.1A>C r.? p.? initiating methionine - Maternal (inferred) - pathogenic g.48278874T>G g.50201513T>G - - COL1A1_001316 - PubMed: Zhytnik 2019 - - Germline - - - - - DNA PCR, SEQ - - OI, OI1 UA32 PubMed: Zhytnik 2019 - - - Ukraine - - - - - 1 Lidiia Zhytnik
+/+ 1 c.1A>G r.(?) p.(Met1?) initiating methionine - Paternal (confirmed) - pathogenic g.48278874T>C g.50201513T>C - - COL1A1_000546 - - - - Unknown - - - - - DNA DHPLC, PCR, SEQ - - OI, OI1 - - - - - - white - - - - 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
+/+ 1 c.1A>G r.(?) p.(Met1?) initiating methionine - Unknown - pathogenic g.48278874T>C g.50201513T>C - - COL1A1_000546 - - - - Unknown - - - - - DNA DHPLC, PCR, SEQ - - OI, OI1 - - - - - - white - - - - 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
+/. - c.1A>G r.(?) p.(Met1?) - - Unknown - pathogenic g.48278874T>C - COL1A1(NM_000088.3):c.1A>G (p.M1?) - COL1A1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) - - Unknown - pathogenic g.48278874T>C - COL1A1(NM_000088.3):c.1A>G (p.M1?) - COL1A1_000546 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.2T>C r.(?) p.(Met1?) initiating methionine - Unknown - pathogenic g.48278873A>G g.50201512A>G - - COL1A1_000460 - - - - Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Peter Roughley
+/+ 1 c.2T>C r.(?) p.(Met1?) initiating methionine - Unknown - pathogenic g.48278873A>G g.50201512A>G - - COL1A1_000460 - - - - Unknown - - - - - DNA DHPLC, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/+ 1 c.2T>G r.(?) p.(Met1?) initiating methionine - Maternal (confirmed) - pathogenic g.48278873A>C g.50201512A>C - - COL1A1_000883 - PubMed: Cho et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Cho et al., 2015 The protein-level consequence of the sequence variant is incorrectly reported as p.Met1Arg. - - - Korean - - - - 1 Raymond Dalgleish
+/+ 1 c.3G>T r.(?) p.(Met1?) initiating methionine - Unknown - pathogenic g.48278872C>A g.50201511C>A - - COL1A1_000631 - - - - Unknown - - - - - DNA SEQ - - osteoporosis - - - - - - - - - - - 1 Javier Garcia-Planells
?/. - c.34C>T r.(?) p.(Leu12Phe) - - Unknown - VUS g.48278841G>A - COL1A1(NM_000088.3):c.34C>T (p.(Leu12Phe)) - COL1A1_001709 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+ 1 c.37_38insC r.(?) p.(Leu13Serfs*37) frameshift - Unknown - pathogenic g.48278837_48278838insG g.50201476_50201477insG - - COL1A1_000943 - PubMed: Bardai et al., 2016 - - Unknown - - - - - DNA SEQ - - OI, OI1 - PubMed: Bardai et al., 2016 - - - - - - - - - 1 Ghalib Bardai, Patrizia Mason
+/. 1 c.37_38insC r.(?) p.(Leu13SerfsTer37) - - Unknown - pathogenic (dominant) g.48278837_48278838insG g.50201476_50201477insG - - COL1A1_000943 all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.38T>G r.(?) p.(Leu13*) nonsense - Unknown - pathogenic g.48278837A>C g.50201476A>C - - COL1A1_000823 - PubMed: Rauch et al., 2014 - - Unknown - - - - - DNA PCRm, SEQ - - OI, OI1 - PubMed: Rauch et al., 2014 - - - - - - - - - 1 Raymond Dalgleish
+/. - c.38T>G r.(?) p.(Leu13Ter) - - Unknown - pathogenic g.48278837A>C g.50201476A>C - - COL1A1_000823 - PubMed: Rauch 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel OI PatV3 PubMed: Rauch 2014 - - - Canada - - - - - 1 Johan den Dunnen
+/. 1 c.38T>G r.(?) p.(Leu13Ter) - - Unknown - pathogenic (dominant) g.48278837A>C g.50201476A>C - - COL1A1_000823 Nonsense variants are a known pathogenic mechanism in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42G>C r.(?) p.(Ala14=) - - Unknown - likely benign g.48278833C>G g.50201472C>G COL1A1(NM_000088.3):c.42G>C (p.A14=) - COL1A1_001573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60G>A r.(?) p.(=) - - Unknown - likely benign g.48278815C>T - COL1A1(NM_000088.3):c.60G>A (p.T20=) - COL1A1_001780 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 1 c.62A>C r.(?) p.(His21Pro) missense - Unknown - likely pathogenic g.48278813T>G g.50201452T>G - - COL1A1_001084 - PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/+ 1 c.64G>C r.(?) p.(Gly22Arg) missense - Unknown - pathogenic g.48278811C>G g.50201450C>G - - COL1A1_000003 - PubMed: Pollitt et al., 2006 - rs72667007 Unknown - - - - - DNA SEQ - - OI, OI2 433 PubMed: Pollitt et al., 2006 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1 c.64G>C r.(?) p.(Gly22Arg) missense - Unknown - pathogenic g.48278811C>G g.50201450C>G - - COL1A1_000003 - - - rs72667007 Unknown - - - - - DNA DHPLC, SEQ - - OI, OI2 AN_000079 - - - - - - - - - - 1 Margherita Maioli
+/+ 1 c.64G>C r.(?) p.(Gly22Arg) missense - Unknown - pathogenic (dominant) g.48278811C>G g.50201450C>G - - COL1A1_000003 - PubMed: Lessel et al., 2018 - rs72667007 De novo - - - - - DNA SEQ-NG-R blood WES ? Individual 3 PubMed: Lessel et al., 2018 This individual has Wiedemann–Rautenstrauch progeroid syndrome rather than the expected osteogenesis type II phenotype. The authors speculate that the individual might harbour an additional unidentified variant or that he is mosaic for the identified COL1A1 variant. M no Germany - - - - - 1 Raymond Dalgleish
+/. 1 c.64G>C r.(?) p.(Gly22Arg) - - Unknown - pathogenic (dominant) g.48278811C>G g.50201450C>G - - COL1A1_000003 Change of charge in the signal peptide prevents export of collagen and lead to accumulation in the RER - - rs72667007 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.65_70del r.(?) p.(Gly22_Gln23del) deletion - Unknown - pathogenic g.48278806_48278811del g.50201445_50201450del - - COL1A1_000868 - PubMed: Lindahl et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI3 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
+/. 1 c.65_70del r.(?) p.(Gly22_Gln23del) - - Unknown - pathogenic (dominant) g.48278806_48278811del g.50201445_50201450del - - COL1A1_000868 Deletion of two amino acids in the signal peptide prevents export of collagen and lead to accumulation in the RER - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.67C>T r.(?) p.(Gln23*) - - Parent #1 - pathogenic (dominant) g.48278808G>A g.50201447G>A - - COL1A1_001424 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam1 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/. 1 c.67C>T r.(?) p.(Gln23Ter) - - Unknown - pathogenic (dominant) g.48278808G>A g.50201447G>A - - COL1A1_001424 Nonsense variants are a known pathogenic mechanism in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77G>A r.(?) p.(Gly26Asp) - - Unknown - VUS g.48278798C>T g.50201437C>T COL1A1(NM_000088.3):c.77G>A (p.G26D, p.(Gly26Asp)) - COL1A1_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77G>A r.(?) p.(Gly26Asp) - - Unknown - likely benign g.48278798C>T g.50201437C>T COL1A1(NM_000088.3):c.77G>A (p.G26D, p.(Gly26Asp)) - COL1A1_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+? 1 c.77G>A r.(?) p.(Gly26Asp) missense - Unknown - likely pathogenic g.48278798C>T g.50201437C>T - - COL1A1_000579 - - - - Unknown - - - - - DNA SEQ - - OI - - - - - - - - - - - 1 Isabel Mandy Nesbitt
+/+ 1 c.77G>A r.(?) p.(Gly26Asp) missense - Unknown - pathogenic g.48278798C>T g.50201437C>T - - COL1A1_000579 - PubMed: Fuccio et al., 2011 - - Unknown - - - - - DNA DGGE, PCR, SEQ - - OI, OI8 - PubMed: Fuccio et al., 2011 This patient is reported to harbour two COL1A1 variants, either of which would be expected to result alone in producing the OI phenotype. The c.77G>A variant is previously reported as causing OI I and the frequent c.2461G>A variant causes predominantly OI types III and IV. The possible parental origin of these variants is not reported and the matter of the patient having two disease-causing variants is not discussed by the authors.Although the OI type is not recorded in the publication, the authors have provided this information subsequently. - - - - - - - - 1 Raymond Dalgleish
?/+ - c.77G>A r.(?) p.(Gly26Asp) missense - Paternal (confirmed) - pathogenic (dominant) g.48278798C>T g.50201437C>T - - COL1A1_000579 inherited from unaffected father PubMed: Demir 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B40 PubMed: Demir 2021 analysis 43 OI patients M - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.77G>A r.(?) p.(Gly26Asp) - - Unknown - pathogenic (dominant) g.48278798C>T g.50201437C>T - - COL1A1_000579 Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77G>A r.(?) p.(Gly26Asp) - - Unknown - likely benign g.48278798C>T - COL1A1(NM_000088.3):c.77G>A (p.G26D, p.(Gly26Asp)) - COL1A1_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.79C>T r.(?) p.(Gln27*) nonsense - Unknown - pathogenic g.48278796G>A g.50201435G>A - - COL1A1_000549 - - - - Unknown - - - - - DNA DHPLC, PCR, SEQ - - OI, OI1 - - - - - - white - - - - 1 Giacomo Venturi, Massimiliano Corradi, Alberto Gandini
+/. 1 c.79C>T r.(?) p.(Gln27Ter) - - Unknown - pathogenic (dominant) g.48278796G>A g.50201435G>A - - COL1A1_000549 Nonsense variants are a known pathogenic mechanism in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.81del r.(?) p.(Val28Serfs*46) frameshift - Unknown - pathogenic g.48278795del g.50201434del - - COL1A1_000922 - PubMed: Balasubramanian et al., 2016 - - Unknown - - - - - DNA SEQ - - OI - PubMed: Balasubramanian et al., 2016 - - - - Canadian - - - - 1 Raymond Dalgleish
+/. 1 c.81del r.(?) p.(Val28SerfsTer46) - - Unknown - pathogenic (dominant) g.48278795del g.50201434del - - COL1A1_000922 all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.91C>T r.(?) p.(Gln31*) nonsense - Maternal (inferred) - pathogenic g.48278784G>A g.50201423G>A - - COL1A1_001071 - - {ClinVar000173062.1} rs794726873 Unknown - - - - - DNA SEQ - - OI, OI1 - - - - - - - - - - - 1 Ken Poole
+/. 1 c.91C>T r.(?) p.(Gln31Ter) - - Unknown - pathogenic (dominant) g.48278784G>A g.50201423G>A - - COL1A1_001071 Nonsense variants are a known pathogenic mechanism in COL1A1 - {ClinVar000173062.1} rs794726873 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.103+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48278771C>T g.50201410C>T - - COL1A1_000368 - PubMed: Hartikka et al., 2004 - rs72667008 Unknown - - - - - DNA CSGE, PCR, SEQ - - OI, OI1 - PubMed: Hartikka et al., 2004 - - - - - - - - - 1 Raymond Dalgleish
+/+ 1i c.103+1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48278771C>T g.50201410C>T - - COL1A1_000368 - - - rs72667008 Unknown - - - - - DNA MCA, SEQ - - OI, OI1 - - - - - - - - - - - 1 Margherita Maioli
+/. 1i c.103+1G>A r.spl p.? - - Unknown - pathogenic (dominant) g.48278771C>T g.50201410C>T - - COL1A1_000368 Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1 - - rs72667008 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.103+1G>C r.spl p.? - - Parent #1 - pathogenic (dominant) g.48278771C>G g.50201410C>G - - COL1A1_001572 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004301 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 1i c.103+1G>C r.spl p.? - - Unknown - pathogenic (dominant) g.48278771C>G g.50201410C>G - - COL1A1_001572 Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.103+2T>C r.spl? p.? splicing affected? - Unknown - pathogenic g.48278770A>G g.50201409A>G - - COL1A1_001054 - PubMed: Ho Duy et al., 2016 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/+ 1i c.103+2T>C r.spl? p.? splicing affected? - Unknown - pathogenic g.48278770A>G g.50201409A>G - - COL1A1_001054 - PubMed: Ho Duy et al., 2016 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Ho Duy et al., 2016 - - - - Vietnamese - - - - 1 Raymond Dalgleish
+/. 1i c.103+2T>C r.spl p.? - - Unknown - pathogenic (dominant) g.48278770A>G g.50201409A>G - - COL1A1_001054 Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.103+2T>G r.? p.? splicing affected - Unknown - VUS g.48278770A>C - - - COL1A1_001104 The variant disrupts the canonical splice site and can therefore be classified as pathogenic PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ - custom gene panel OI, OI1 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. 1i c.103+2T>G r.spl p.? - - Unknown - pathogenic (dominant) g.48278770A>C - - - COL1A1_001104 Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.103+3_103+6del r.spl? p.? - - Unknown - VUS g.48278769_48278772del g.50201408_50201411del 103+3_103+6delAAGT - COL1A1_001668 - - - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood - OI - - - - - Italy - - - - - 1 Lucia Micale
+/. - c.103+5G>A r.spl? p.? - - Unknown - pathogenic g.48278767C>T g.50201406C>T COL1A1(NM_000088.3):c.103+5G>A - COL1A1_001325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.103+5G>A r.spl? p.? - - Unknown - pathogenic (dominant) g.48278767C>T g.50201406C>T - - COL1A1_001325 loss of splice donor site predicted by 4 different algorytms - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103+16T>G r.(=) p.(=) - - Unknown - likely benign g.48278756A>C g.50201395A>C COL1A1(NM_000088.3):c.103+16T>G - COL1A1_001571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.103+16T>G r.(?) p.(=) - - Unknown - likely benign g.48278756A>C g.50201395A>C - - COL1A1_001571 No effect on splicing predicted - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103+68G>A r.(=) p.(=) - - Unknown - likely benign g.48278704C>T - COL1A1(NM_000088.3):c.103+68G>A - COL1A1_001764 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.104-441G>T r.(=) p.(=) - - Unknown - benign g.48277749C>A g.50200388C>A COL1A1(NM_000088.3):c.104-441G>T - COL1A1_001234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.104-441G>T r.(=) p.(=) other/complex - Unknown - pathogenic g.48277749C>A g.50200388C>A - - COL1A1_001234 - PubMed: Jaleč et al., 2019 - - Unknown - - - - - DNA SEQ-NG - - OI, OI3 - PubMed: Jaleč et al., 2019 The patient's sequence variant is not reported in the published account but was supplied to the database by the authors.The c.2235+1G>A splice site variant is the primary cause of the OI phenotype. The c.104-441G>T variant lies in within the binding site of the transcription factor SP1 and can be considered as a functional SNP that results in reduced BMD.The technique used was the custom Gene panel - - - - - - - - 1 Raymond Dalgleish
-?/. 1i c.104-441G>T r.(?) p.(=) - - Unknown - likely benign g.48277749C>A g.50200388C>A - - COL1A1_001234 No effect on splicing predicted - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104-213A>G r.(=) p.(=) - - Unknown - likely benign g.48277521T>C - COL1A1(NM_000088.3):c.104-213A>G - COL1A1_001763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/+? 1i c.104-13_104-12delinsAA r.(=) p.(=) splicing affected? - Unknown - likely pathogenic g.48277320_48277321delinsTT g.50199959_50199960delinsTT - - COL1A1_000937 - PubMed: Zarate et al., 2016 - - Unknown - - - - - DNA PCR, SEQ - - ? - PubMed: Zarate et al., 2016 The variant, incorrectly reported as c.104-13_-12CC>AA, is predicted to create a new 3´ splice site resulting in a shifted reading frame. The authors describe the variant as a VUS. - - - - - - - - 1 Raymond Dalgleish
+?/. 1i c.104-13_104-12delinsAA r.(?) p.(=) - - Unknown - likely pathogenic (dominant) g.48277320_48277321delinsTT g.50199959_50199960delinsTT - - COL1A1_000937 Loss of splice acceptor site predicted - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.104-3C>G r.spl? p.? splicing affected? - Unknown - pathogenic g.48277311G>C g.50199950G>C - - COL1A1_000142 - PubMed: Hartikka et al., 2004 - rs72667009 Unknown - - - - - DNA CSGE, PCR, SEQ - - OI, OI1 - PubMed: Hartikka et al., 2004 - - - - - - - - - 1 Raymond Dalgleish
+/. 1i c.104-3C>G r.spl? p.? - - Unknown - pathogenic (dominant) g.48277311G>C g.50199950G>C - - COL1A1_000142 Loss of splice acceptor site predicted - - rs72667009 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.104-2A>G r.spl? p.? - - Unknown - pathogenic g.48277310T>C g.50199949T>C COL1A1(NM_000088.3):c.104-2A>G - COL1A1_001324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.104-2A>G r.spl p.? - - Unknown - pathogenic (dominant) g.48277310T>C g.50199949T>C - - COL1A1_001324 Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.104-1G>A r.spl? p.? splicing affected? - Unknown - pathogenic g.48277309C>T g.50199948C>T - - COL1A1_000886 - PubMed: Wang et al., 2015 PubMed: Wang et al., 2015 - - Unknown - - - - - DNA PCR, SEQ, arraySEQ - - OI - PubMed: Wang et al., 2015 PubMed: Wang et al., 2015 - - - - Chinese - - - - 1 Raymond Dalgleish
+/+ 1i c.104-1G>A r.? - splicing affected? - Unknown - VUS g.48277309C>T - - - COL1A1_000886 The variant disrupts the canonical slice acceptor site and can therefore be lassified as pathogenic PubMed: Li 2019, Journal: Li 2019 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI4 - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. 1i c.104-1G>A r.spl p.? - - Unknown - pathogenic (dominant) g.48277309C>T g.50199948C>T - - COL1A1_000886 Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.104-1G>C r.spl? p.? splicing affected? - Unknown - pathogenic g.48277309C>G g.50199948C>G - - COL1A1_000850 - PubMed: Zhang et al., 2014 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Zhang et al., 2014 - - - - Chinese - - - - 1 Raymond Dalgleish
+/. 1i c.104-1G>C r.spl p.? - - Unknown - pathogenic (dominant) g.48277309C>G g.50199948C>G - - COL1A1_000850 Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.104-1G>T r.104_126del p.? - - Parent #1 - pathogenic (dominant) g.48277309C>A g.50199948C>A - - COL1A1_001570 - PubMed: Schleit 2015, Journal: Schleit 2015 - - Germline - - - - - DNA SEQ - - OI AN_004302 PubMed: Schleit 2015, Journal: Schleit 2015 - - - United States - - - - - 1 Global Variome, with Curator vacancy
+/. 1i c.104-1G>T r.104_126del p.? - - Unknown - pathogenic (dominant) g.48277309C>A g.50199948C>A - - COL1A1_001570 Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i_37i c.(103+1_104-1)_(2613+1_2614-1)del r.104_2613del p.0 deletion, multi exon - Unknown ACMG pathogenic g.(48277309_48278771)_(48267094_48267219)del g.(50199948_50201410)_(50189733_50189858)del c.104-?_2613+?del - COL1A1_000753 multi exon deletion with frameshift - - - Unknown - - - - - DNA MLPA - - OI, OI1 - - - - - - - - - - - 1 Gerard Pals
?/+ 1i_37i c.(103+1_104-1)_(2613+1_2614-1)del r.104_2613del p.0 - - Unknown - pathogenic (dominant) g.(48277309_48278771)_(48267094_48267219)del g.(50199948_50201410)_(50189733_50189858)del - - COL1A1_000753 multi-exon deletion with frameshift and NMD - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.111_117del r.(?) p.(Ile38Alafs*34) frameshift - Unknown - pathogenic g.48277299_48277305del g.50199938_50199944del - - COL1A1_000873 - PubMed: Lindahl et al., 2015 - - Unknown - - - - - DNA PCR, SEQ - - OI, OI1 - PubMed: Lindahl et al., 2015 - - - - Swedish - - - - 1 Katarina Lindahl
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