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NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 2, 2021)
Last evaluated:
Jan 13, 2020
Accession:
VCV000017355.4
Variation ID:
17355
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

Allele ID
32394
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47978698 (GRCh38) GRCh38 UCSC
12: 48372481 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48372481G>A
NC_000012.12:g.47978698G>A
NG_008072.1:g.30805C>T
... more HGVS
Protein change
R863*, R932*
Other names
R732*
Canonical SPDI
NC_000012.12:47978697:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA281739
OMIM: 120140.0005
dbSNP: rs121912866
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 13, 2020 RCV000726311.4
Pathogenic 1 no assertion criteria provided Aug 1, 1991 RCV000018899.27
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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
Pathogenic
(Jan 13, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001826062.1
Submitted: (Sep 02, 2021)
Comment:
Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 17355; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); … (more)
Pathogenic
(Feb 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD, LLC
Accession: SCV000343669.4
Submitted: (Sep 19, 2018)
Publications:
PubMed (1)
PubMed: 1677770
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL2A1
Number of individuals with the variant: 1
Zygosity: 1 Single Heterozygote
Sex: mixed
Pathogenic
(Aug 01, 1991)
no assertion criteria provided
Method: literature only
STICKLER SYNDROME, TYPE I
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000039183.3
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 1677770
Ahmad, N. N., Ala-Kokko, L.,  (more...)
Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). (Abstract) Am. J. Hum. Genet. 47 (suppl.): A206-only, 1990.
Comment on evidence:
In a family with Stickler syndrome (STL1; 108300), Ahmad et al. (1990, 1991) found a single base mutation altering the arginine at amino acid 732 … (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
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Ahmad NN Proceedings of the National Academy of Sciences of the United States of America 1991 PMID: 1677770
Ahmad, N. N., Ala-Kokko, L., Knowlton, R. G., Weaver, E. J., Maguire, J. I., Tasman, W., Prockop, D. J. A stop codon in the gene for type II procollagen (COL2A1) causes one variant of arthro-ophthalmopathy (the Stickler syndrome). (Abstract) Am. J. Hum. Genet. 47 (suppl.): A206-only, 1990. - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL2A1 - - - -

Text-mined citations for rs121912866...

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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 Dec 12, 2021