NM_000088.4(COL1A1):c.4332del (p.Leu1445fs) AND Osteogenesis imperfecta type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 29, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002260953.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.4332del (p.Leu1445fs)]

NM_000088.4(COL1A1):c.4332del (p.Leu1445fs)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.4332del (p.Leu1445fs)
HGVS:
  • NC_000017.11:g.50185569del
  • NG_007400.1:g.21075del
  • NM_000088.4:c.4332delMANE SELECT
  • NP_000079.2:p.Leu1445fs
  • LRG_1t1:c.4332del
  • LRG_1:g.21075del
  • NC_000017.10:g.48262930del
  • NM_000088.3:c.4332delC
Protein change:
L1445fs
Links:
dbSNP: rs1114167405
NCBI 1000 Genomes Browser:
rs1114167405
Molecular consequence:
  • NM_000088.4:c.4332del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Osteogenesis imperfecta type I (OI1)
Synonyms:
OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002540762Department of Genetics, Beijing BioBiggen Technology Co., Ltd.
no assertion criteria provided
Pathogenic
(Jun 29, 2022) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Genetics, Beijing BioBiggen Technology Co., Ltd., SCV002540762.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023