NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001089571.1

Allele description [Variation Report for NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)]

NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)

Gene:
COL2A1:collagen type II alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)
HGVS:
  • NC_000012.12:g.47995763C>T
  • NG_008072.1:g.13740G>A
  • NM_001844.5:c.655G>AMANE SELECT
  • NM_033150.3:c.448G>A
  • NP_001835.3:p.Gly219Arg
  • NP_149162.2:p.Gly150Arg
  • NC_000012.11:g.48389546C>T
  • NM_001844.4:c.655G>A
Protein change:
G150R
Links:
dbSNP: rs1131691822
NCBI 1000 Genomes Browser:
rs1131691822
Molecular consequence:
  • NM_001844.5:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033150.3:c.448G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001244776Victorian Clinical Genetics Services,Murdoch Childrens Research Institutecriteria provided, single submitter
Pathogenic
(Aug 6, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Victorian Clinical Genetics Services,Murdoch Childrens Research Institute, SCV001244776.1

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

Description

A heterozygous missense variant, NM_001844.4(COL2A1):c.655G>A, has been identified in exon 10 of 54 of the COL2A1 gene. The variant is predicted to result in a major amino acid change from glycine to arginine at position 219 of the protein (NP_001835.3(COL2A1):p.(Gly219Arg)). The glycine residue at this position has very high conservation (100 vertebrates, UCSC), and is located within the triple-helical region. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G). The variant has been previously described as pathogenic in several patients with Stickler syndrome (Hoornaert K. et al. (2010), ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC.

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

Last Updated: Nov 27, 2021

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