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NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Mar 27, 2020
Accession:
VCV000806873.7
Variation ID:
806873
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=)

Allele ID
796772
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47976872 (GRCh38) GRCh38 UCSC
12: 48370655 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48370655G>A
NC_000012.12:g.47976872G>A
NM_001844.5:c.3375C>T MANE Select NP_001835.3:p.Gly1125= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:47976871:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs543083152
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 27, 2020 RCV000994905.2
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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
Uncertain significance
(Mar 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001569195.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change affects codon 1125 of the COL2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Likely benign
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148716.6
Submitted: (Jul 04, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs543083152...

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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 Jul 10, 2021