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NM_001844.5(COL2A1):c.-119C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Jun 14, 2018
Accession:
VCV000308941.4
Variation ID:
308941
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.-119C>T

Allele ID
317278
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 48004440 (GRCh38) GRCh38 UCSC
12: 48398223 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48398223G>A
NC_000012.12:g.48004440G>A
NG_008072.1:g.5063C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:48004439:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.27236 (G)

Allele frequency
1000 Genomes Project 0.72764
The Genome Aggregation Database (gnomAD) 0.79564
Trans-Omics for Precision Medicine (TOPMed) 0.77819
Trans-Omics for Precision Medicine (TOPMed) 0.78860
The Genome Aggregation Database (gnomAD) 0.79871
Links
ClinGen: CA10632877
dbSNP: rs3803182
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000314719.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000367182.3
Benign 1 criteria provided, single submitter Jun 14, 2018 RCV000834161.1
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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
1214 1225

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000975929.1
Submitted: (Apr 12, 2019)
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000379084.3
Submitted: (Feb 20, 2020)
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Type II Collagenopathies
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000379085.3
Submitted: (Feb 20, 2020)
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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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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 rs3803182...

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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 Jan 08, 2022