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NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 24, 2020
Accession:
VCV000498869.2
Variation ID:
498869
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp)

Allele ID
490293
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47982882 (GRCh38) GRCh38 UCSC
12: 48376665 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48376665C>T
NC_000012.12:g.47982882C>T
NM_001844.5:c.2159G>A MANE Select NP_001835.3:p.Gly720Asp missense
... more HGVS
Protein change
G720D, G651D
Other names
-
Canonical SPDI
NC_000012.12:47982881:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA384546968
dbSNP: rs1555166528
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 2 criteria provided, multiple submitters, no conflicts Jul 24, 2020 RCV000593344.2
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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
1101 1112

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 06, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000704095.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jul 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001587073.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with aspartic acid at codon 720 of the COL2A1 protein (p.Gly720Asp). The glycine residue is highly conserved and there is … (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
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Barat-Houari M Human mutation 2016 PMID: 26443184
Collagen structure and stability. Shoulders MD Annual review of biochemistry 2009 PMID: 19344236
Human gene mutation database-a biomedical information and research resource. Krawczak M Human mutation 2000 PMID: 10612821
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. Bella J Science (New York, N.Y.) 1994 PMID: 7695699
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. Long CG Biochemistry 1993 PMID: 8218237
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL2A1 - - - -

Text-mined citations for rs1555166528...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 13, 2021