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NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter) AND Stickler syndrome, IIa 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002279980.1

Allele description [Variation Report for NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)]

NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)

Gene:
COL9A3:collagen type IX alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)
HGVS:
  • NC_000020.11:g.62819941C>T
  • NG_016353.1:g.7880C>T
  • NM_001853.4:c.268C>TMANE SELECT
  • NP_001844.3:p.Arg90Ter
  • LRG_1253t1:c.268C>T
  • LRG_1253:g.7880C>T
  • LRG_1253p1:p.Arg90Ter
  • NC_000020.10:g.61451293C>T
Protein change:
R90*; ARG90TER
Links:
OMIM: 120270.0008; dbSNP: rs763259234
NCBI 1000 Genomes Browser:
rs763259234
Molecular consequence:
  • NM_001853.4:c.268C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Stickler syndrome, IIa 6
Synonyms:
Stickler syndrome, type VI; Stickler syndrome, type 6
Identifiers:
MONDO: MONDO:0031047; MedGen: C5774207; OMIM: 620022

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002568810OMIM
no assertion criteria provided
Pathogenic
(Aug 29, 2022) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Markova T, Sparber P, Borovikov A, Nagornova T, Dadali E.

Mol Genet Genomic Med. 2021 Mar;9(3):e1620. doi: 10.1002/mgg3.1620. Epub 2021 Feb 11.

PubMed [citation]
PMID:
33570243
PMCID:
PMC8104176

Details of each submission

From OMIM, SCV002568810.1

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

Description

In a 3-year-old Russian boy with severe sensorineural hearing loss, high myopia, vitreoretinal degeneration, and early-onset arthropathy of the lower limbs (STL6; 620022), Markova et al. (2021) performed targeted sequencing of 166 genes associated with congenital skeletal disorders and identified compound heterozygosity for 2 nonsense mutations in the COL9A3 gene: a c.268C-T transition (c.268C-T, NM_001853.4) in exon 5, resulting in an arg90-to-ter (R90X) substitution, and a c.1729C-T transition in exon 30, resulting in an arg577-to-ter (R577X; 120270.0009) substitution. Sanger sequencing confirmed familial segregation; his unaffected sibs did not carry the COL9A3 variant.

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

Last Updated: Sep 29, 2024