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NM_001844.5(COL2A1):c.*28C>T

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 10, 2021)
Last evaluated:
Jun 14, 2018
Accession:
VCV000308901.5
Variation ID:
308901
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.*28C>T

Allele ID
317257
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47973379 (GRCh38) GRCh38 UCSC
12: 48367162 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48367162G>A
NC_000012.12:g.47973379G>A
NG_008072.1:g.36124C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:47973378:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00559 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00142
1000 Genomes Project 0.00559
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00139
The Genome Aggregation Database (gnomAD) 0.00051
The Genome Aggregation Database (gnomAD) 0.00137
The Genome Aggregation Database (gnomAD), exomes 0.00150
Trans-Omics for Precision Medicine (TOPMed) 0.00077
Links
ClinGen: CA6534443
dbSNP: rs41272775
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000343084.3
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV000381692.3
Likely benign 1 criteria provided, single submitter Jun 14, 2018 RCV001555878.2
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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
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000378950.3
Submitted: (Feb 20, 2020)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Type II Collagenopathies
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV000378951.3
Submitted: (Feb 20, 2020)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001777366.1
Submitted: (Aug 10, 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 rs41272775...

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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