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NM_001852.4(COL9A2):c.541G>T (p.Gly181Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003696675.1

Allele description

NM_001852.4(COL9A2):c.541G>T (p.Gly181Ter)

Gene:
COL9A2:collagen type IX alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_001852.4(COL9A2):c.541G>T (p.Gly181Ter)
HGVS:
  • NC_000001.11:g.40311265C>A
  • NG_008031.1:g.11003G>T
  • NM_001852.4:c.541G>TMANE SELECT
  • NP_001843.1:p.Gly181Ter
  • NC_000001.10:g.40776937C>A
Protein change:
G181*
Molecular consequence:
  • NM_001852.4:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004458742Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 18, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L.

Am J Med Genet A. 2011 Jul;155A(7):1668-72. doi: 10.1002/ajmg.a.34071. Epub 2011 Jun 10.

PubMed [citation]
PMID:
21671392

Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.

Kjellström U, Martell S, Brobeck C, Andréasson S.

Ophthalmic Genet. 2021 Apr;42(2):161-169. doi: 10.1080/13816810.2020.1861309. Epub 2020 Dec 27.

PubMed [citation]
PMID:
33356723
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004458742.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL9A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly181*) in the COL9A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL9A2 are known to be pathogenic (PMID: 21671392, 33356723).

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

Last Updated: Feb 28, 2024