NM_001844.5(COL2A1):c.2679+69dup AND Stickler syndrome type 1

Clinical significance:Benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988821.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.2679+69dup]

NM_001844.5(COL2A1):c.2679+69dup

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.2679+69dup
HGVS:
  • NC_000012.12:g.47979940dup
  • NG_008072.1:g.29567dup
  • NM_001844.5:c.2679+69dupMANE SELECT
  • NM_033150.3:c.2472+69dup
  • NC_000012.11:g.48373718_48373719insC
  • NC_000012.11:g.48373723dup
Links:
dbSNP: rs11443755
NCBI 1000 Genomes Browser:
rs11443755
Molecular consequence:
  • NM_001844.5:c.2679+69dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033150.3:c.2472+69dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Stickler syndrome type 1 (STL1)
Synonyms:
Stickler syndrome, vitreous type 1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive
Identifiers:
MONDO: MONDO:0007160; MedGen: C2020284; Orphanet: 828; OMIM: 108300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001138706Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001138706.1

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

Last Updated: Nov 27, 2021

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