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NM_000088.4(COL1A1):c.*243_*244dup AND Osteogenesis Imperfecta, Dominant

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jun 14, 2016
Review status:
criteria provided, conflicting classifications
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:
RCV000303947.7

Allele description [Variation Report for NM_000088.4(COL1A1):c.*243_*244dup]

NM_000088.4(COL1A1):c.*243_*244dup

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.*243_*244dup
HGVS:
  • NC_000017.11:g.50185275_50185276dup
  • NG_007400.1:g.21381_21382dup
  • NM_000088.4:c.*243_*244dupMANE SELECT
  • LRG_1:g.21381_21382dup
  • NC_000017.10:g.48262636_48262637dup
  • NM_000088.3:c.*243_*244dupAA
Links:
dbSNP: rs56302025
NCBI 1000 Genomes Browser:
rs56302025
Molecular consequence:
  • NM_000088.4:c.*243_*244dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000404069Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000404074Illumina 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

Help

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, SCV000404069.2

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

From Illumina Laboratory Services, Illumina, SCV000404074.2

#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: Oct 26, 2024