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NM_001852.4(COL9A2):c.186G>A (p.Pro62=) AND COL9A2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 23, 2024
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:
RCV004740263.1

Allele description [Variation Report for NM_001852.4(COL9A2):c.186G>A (p.Pro62=)]

NM_001852.4(COL9A2):c.186G>A (p.Pro62=)

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.186G>A (p.Pro62=)
HGVS:
  • NC_000001.11:g.40314352C>T
  • NG_008031.1:g.7916G>A
  • NM_001852.4:c.186G>AMANE SELECT
  • NP_001843.1:p.Pro62=
  • NC_000001.10:g.40780024C>T
  • NM_001852.3:c.186G>A
Links:
OMIM: 120260.0002; dbSNP: rs1085307973
NCBI 1000 Genomes Browser:
rs1085307973
Molecular consequence:
  • NM_001852.4:c.186G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
COL9A2-related disorder
Synonyms:
COL9A2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360634PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 23, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360634.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The COL9A2 c.186G>A variant is not predicted to result in an amino acid change (p.=). This variant has been reported in individuals with multiple epiphyseal dysplasia (MED) (Holden et al. 1999. PubMed ID: 10364514; Nakashima et al. 2005. PubMed ID: 15633184; Jackson et al. 2010. PubMed ID: 20358595). This variant is located at the last nucleotide of exon three and patient mRNA analysis suggested that this variant leads to the skipping of exon three (Holden et al. 1999. PubMed ID: 10364514). This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD. A different synonymous change impacting the same nucleotide (c.186G>C) has been reported to segregate with disease in a family with MED (Fiedler et al. 2002. PubMed ID: 12244547). The c.186G>A synonymous change is interpreted as pathogenic/likely pathogenic in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/427128/). Taken together, this variant is interpreted as pathogenic.

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

Last Updated: Oct 13, 2024