NM_001844.5(COL2A1):c.610-17_617del AND Stickler syndrome type 1

Clinical significance:Likely pathogenic (Last evaluated: Jul 27, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001543669.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.610-17_617del]

NM_001844.5(COL2A1):c.610-17_617del

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.610-17_617del
HGVS:
  • NC_000012.12:g.47995915_47995939del
  • NG_008072.1:g.13567_13591del
  • NM_001844.5:c.610-17_617delMANE SELECT
  • NM_033150.3:c.403-17_410del
  • NC_000012.11:g.48389698_48389722del
Molecular consequence:
  • NM_001844.5:c.610-17_617del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_033150.3:c.403-17_410del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001762356Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Likely pathogenic
(Jul 27, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001762356.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

COL2A1 c.610-17_617del is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This variant deletes the native acceptor (3') splice site for exon 9 and is predicted to cause aberrant mRNA splicing. We consider COL2A1 c.610-17_617del to be likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 3, 2021

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