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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002568810	OMIM	no assertion criteria provided	Pathogenic (Aug 29, 2022)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002568810

OMIM

no assertion criteria provided

Pathogenic
(Aug 29, 2022)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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