NM_000088.3(COL1A1):c.2236-17C>G AND Osteogenesis imperfecta

Clinical significance:Uncertain significance (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029564.1

Allele description [Variation Report for NM_000088.3(COL1A1):c.2236-17C>G]

NM_000088.3(COL1A1):c.2236-17C>G

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.3(COL1A1):c.2236-17C>G
HGVS:
  • NC_000017.11:g.50190941G>C
  • NG_007400.1:g.15699C>G
  • NM_000088.3:c.2236-17C>G
  • LRG_1t1:c.2236-17C>G
  • LRG_1:g.15699C>G
  • NC_000017.10:g.48268302G>C
Links:
dbSNP: rs193922146
NCBI 1000 Genomes Browser:
rs193922146
Molecular consequence:
  • NM_000088.3:c.2236-17C>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Name:
Osteogenesis imperfecta (OI)
Synonyms:
Brittle bone disease
Identifiers:
MONDO: MONDO:0019019; MeSH: D010013; MedGen: C0029434; OMIM: PS166200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052216Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
uncertain
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided
3not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteCOL1A1:c.859-14T>G, COL1A1:c.4249-12G>A, COL1A1:c.3223A>G, COL1A1:c.299-20C>G, COL1A1:c.2560-18C>G, COL1A2:c.937-3C>T, COL1A2:c.936+14C>T, COL1A2:c.246T>C, COL1A2:c.1665+15A>G, COL1A2:c.1645C>G, COL1A2:c.1446A>C1

Last Updated: Jun 14, 2021

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