NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Nov 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001263467.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)]

NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)

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.2678dup (p.Ala895fs)
HGVS:
  • NC_000012.12:g.47980015dup
  • NG_008072.1:g.29493dup
  • NM_001844.5:c.2678dupMANE SELECT
  • NM_033150.3:c.2471dup
  • NP_001835.3:p.Ala895fs
  • NP_149162.2:p.Ala826fs
  • NC_000012.11:g.48373792_48373793insG
  • NC_000012.11:g.48373798dup
  • NM_001844.4:c.2678dup
  • NM_001844.5:c.2678dupCMANE SELECT
Protein change:
A826fs
Links:
dbSNP: rs1938958532
NCBI 1000 Genomes Browser:
rs1938958532
Molecular consequence:
  • NM_001844.5:c.2678dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_033150.3:c.2471dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001441541Johns Hopkins Genomics, Johns Hopkins Universitycriteria provided, single submitter
Pathogenic
(Nov 3, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, et al.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

PubMed [citation]
PMID:
20179744
PMCID:
PMC2987380

Mosaicism in Stickler syndrome.

Stevenson DA, Vanzo R, Damjanovich K, Hanson H, Muntz H, Hoffman RO, Bayrak-Toydemir P.

Eur J Med Genet. 2012 Jun;55(6-7):418-22. doi: 10.1016/j.ejmg.2012.03.006. Epub 2012 Mar 30.

PubMed [citation]
PMID:
22522174
PMCID:
PMC3674818
See all PubMed Citations (5)

Details of each submission

From Johns Hopkins Genomics, Johns Hopkins University, SCV001441541.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This COL2A1 variant is absent from a large population database and has an entry in ClinVar. It has been reported in individuals affected with Stickler syndrome type I and Kniest dysplasia. This variant was detected in the paternal sample used for analysis. The reduced alternate allele fraction and suggestion of mild COL2A1-associated phenotypes suggest this variant is mosaic in the patient father. This frameshift variant occurs in exon 40 of 54 likely leading to nonsense-mediated decay and lack of protein production. We consider c.2678dupC to be pathogenic.

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

Last Updated: Nov 27, 2021

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