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NM_000088.4(COL1A1):c.*714C>T AND Osteogenesis Imperfecta, Dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000320464.5

Allele description [Variation Report for NM_000088.4(COL1A1):c.*714C>T]

NM_000088.4(COL1A1):c.*714C>T

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_000088.4(COL1A1):c.*714C>T
HGVS:
  • NC_000017.11:g.50184788G>A
  • NG_007400.1:g.21852C>T
  • NM_000088.4:c.*714C>TMANE SELECT
  • LRG_1t1:c.*714C>T
  • LRG_1:g.21852C>T
  • NC_000017.10:g.48262149G>A
  • NM_000088.3:c.*714C>T
Links:
dbSNP: rs567392981
NCBI 1000 Genomes Browser:
rs567392981
Molecular consequence:
  • NM_000088.4:c.*714C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Osteogenesis Imperfecta, Dominant
Identifiers:
MedGen: CN239427

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000404026Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000404026.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024