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NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 29, 2021)
Last evaluated:
Apr 12, 2021
Accession:
VCV000449397.6
Variation ID:
449397
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)

Allele ID
445007
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47982940 (GRCh38) GRCh38 UCSC
12: 48376723 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48376723G>A
NC_000012.12:g.47982940G>A
NG_008072.1:g.26563C>T
... more HGVS
Protein change
R701*, R632*
Other names
-
Canonical SPDI
NC_000012.12:47982939:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA384547258
dbSNP: rs1555166555
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 Apr 12, 2021 RCV000522045.5
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000988825.1
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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
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: unknown
Allele origin: unknown
Mendelics
Accession: SCV001138710.1
Submitted: (Oct 22, 2019)
Pathogenic
(Apr 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001410672.2
Submitted: (Jan 07, 2021)
Publications:
PubMed (4)
PubMed: 16752401205131341827620120179744
Comment:
This sequence change creates a premature translational stop signal (p.Arg701*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Apr 12, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000617521.3
Submitted: (Sep 29, 2021)
Comment:
Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene … (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
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1. Richards AJ Human mutation 2010 PMID: 20513134
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP European journal of human genetics : EJHG 2010 PMID: 20179744
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis. Zechi-Ceide RM European journal of medical genetics 2008 PMID: 18276201
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. Richards AJ Human mutation 2006 PMID: 16752401

Text-mined citations for rs1555166555...

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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