NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) AND Stickler syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1993)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000018904.28

Allele description [Variation Report for NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)]

NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)

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.625C>T (p.Arg209Ter)
Other names:
R9*
HGVS:
  • NC_000012.12:g.47995904G>A
  • NG_008072.1:g.13599C>T
  • NM_001844.5:c.625C>TMANE SELECT
  • NM_033150.3:c.418C>T
  • NP_001835.3:p.Arg209Ter
  • NP_149162.2:p.Arg140Ter
  • NC_000012.11:g.48389687G>A
  • NM_001844.4:c.625C>T
Protein change:
R140*; ARG9TER
Links:
OMIM: 120140.0010; dbSNP: rs121912869
NCBI 1000 Genomes Browser:
rs121912869
Molecular consequence:
  • NM_001844.5:c.625C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_033150.3:c.418C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000039188OMIMno assertion criteria providedPathogenic
(Jan 1, 1993)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ.

Am J Hum Genet. 1993 Jan;52(1):39-45. Review.

PubMed [citation]
PMID:
8434604
PMCID:
PMC1682101

Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.

Baldwin CT, Reginato AM, Smith C, Jimenez SA, Prockop DJ.

Biochem J. 1989 Sep 1;262(2):521-8.

PubMed [citation]
PMID:
2803268
PMCID:
PMC1133299

Details of each submission

From OMIM, SCV000039188.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a family with Stickler syndrome (STL1; 108300), Ahmad et al. (1993) found a single-base mutation that converted codon 9 of the COL2A1 gene. (The amino acids of the alpha-1 chain were numbered with the standard convention in which the first amino acid in the triple-helical domain is numbered as +1 (Baldwin et al., 1989).) The mutation changed a CGA codon (arginine) to TGA (stop) codon. This mutation was located in exon 7. The PCR products contained both C and T, indicating that the patient was heterozygous for the mutation. The proband had been identified in a cleft palate clinic at the age of 1 year. He had severe myopia and was at the eighth percentile for height. Pelvic x-rays demonstrated small femoral heads with dumbbell-shaped enlargements of both ends of the femurs. Members in 3 generations and 4 sibships had severe myopia, often with other ocular manifestations.

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

Last Updated: Nov 27, 2021

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