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NM_001844.5(COL2A1):c.*295C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 17, 2021)
Last evaluated:
Jul 27, 2018
Accession:
VCV000308896.5
Variation ID:
308896
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.*295C>T

Allele ID
324975
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47973112 (GRCh38) GRCh38 UCSC
12: 48366895 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48366895G>A
NC_000012.12:g.47973112G>A
NG_008072.1:g.36391C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:47973111:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01837 (A)

Allele frequency
1000 Genomes Project 0.01837
Trans-Omics for Precision Medicine (TOPMed) 0.02083
The Genome Aggregation Database (gnomAD) 0.01854
The Genome Aggregation Database (gnomAD) 0.02009
Trans-Omics for Precision Medicine (TOPMed) 0.02121
Links
ClinGen: CA10637532
dbSNP: rs41272781
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 RCV000274868.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000332272.3
Benign 1 criteria provided, single submitter Jul 27, 2018 RCV001672470.2
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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
1212 1223

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
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: SCV000378941.3
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
Stickler syndrome type 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000378940.3
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
(Jul 27, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001887160.1
Submitted: (Sep 17, 2021)

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 rs41272781...

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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