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NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 31, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV000988535.4
Variation ID:
988535
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)

Allele ID
976369
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47978630 (GRCh38) GRCh38 UCSC
12: 48372413 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48372413G>A
NC_000012.12:g.47978630G>A
NG_008072.1:g.30873C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:47978629:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Sep 11, 2020 RCV001269946.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL2A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1045 1056

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 17, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital
Accession: SCV001450321.1
Submitted: (Nov 26, 2020)
Evidence details
Likely pathogenic
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001574302.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects codon 954 of the COL2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808400.1
Submitted: (Aug 24, 2021)
Evidence details
Pathogenic
(Feb 04, 2020)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001811906.1
Submitted: (Aug 31, 2021)
Evidence details
Comment:
Non-canonical splice site variant demonstrated to result in loss-of-function (Richards et al., 2010); This variant is associated with the following publications: (PMID: 20513134, 26443184, 27193475, … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Richards AJ Human mutation 2010 PMID: 20513134
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP European journal of human genetics : EJHG 2010 PMID: 20179744

Record last updated Sep 07, 2021