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NM_001844.5(COL2A1):c.2194-55T>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 13, 2021)
Last evaluated:
May 28, 2019
Accession:
VCV000802845.3
Variation ID:
802845
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2194-55T>C

Allele ID
791242
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47982664 (GRCh38) GRCh38 UCSC
12: 48376447 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48376447A>G
NC_000012.12:g.47982664A>G
NG_008072.1:g.26839T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:47982663:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.43071
Trans-Omics for Precision Medicine (TOPMed) 0.43931
Trans-Omics for Precision Medicine (TOPMed) 0.42802
The Genome Aggregation Database (gnomAD) 0.43808
Links
dbSNP: rs3829737
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 May 28, 2019 RCV000988824.1
Benign 1 criteria provided, single submitter Jun 23, 2018 RCV001644872.2
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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
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: unknown
Allele origin: unknown
Mendelics
Accession: SCV001138709.1
Submitted: (Oct 22, 2019)
Benign
(Jun 23, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001858160.1
Submitted: (Sep 13, 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 rs3829737...

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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 Nov 27, 2021