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NM_001844.5(COL2A1):c.1680+1G>A

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 28, 2000
Accession:
VCV000017382.1
Variation ID:
17382
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.1680+1G>A

Allele ID
32421
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47985727 (GRCh38) GRCh38 UCSC
12: 48379510 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48379510C>T
NC_000012.12:g.47985727C>T
NG_008072.1:g.23776G>A
... more HGVS
Protein change
-
Other names
IVS25DS, G-A, +1
Canonical SPDI
NC_000012.12:47985726:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 120140.0032
dbSNP: rs1057524696
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 28, 2000 RCV000018925.29
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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
Pathogenic
(Feb 28, 2000)
no assertion criteria provided
Method: literature only
STICKLER SYNDROME, TYPE I
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000039210.3
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 10706362
Comment on evidence:
Freddi et al. (2000) described a novel strategy for screening families with type I Stickler syndrome (STL1; 108300) due to nonsense mutations in the COL2A1 … (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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Title Author Journal Year Link
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. Freddi S American journal of medical genetics 2000 PMID: 10706362

Text-mined citations for rs1057524696...

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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 Oct 08, 2021