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NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 23, 2021)
Last evaluated:
Mar 17, 2021
Accession:
VCV000391509.4
Variation ID:
391509
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)

Allele ID
373286
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47978674 (GRCh38) GRCh38 UCSC
12: 48372457 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48372457G>A
NC_000012.12:g.47978674G>A
NG_008072.1:g.30829C>T
... more HGVS
Protein change
R940*, R871*
Other names
-
Canonical SPDI
NC_000012.12:47978673:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16606625
dbSNP: rs1057524114
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 17, 2021 RCV000438911.2
Pathogenic 1 criteria provided, single submitter - RCV001526694.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: yes
Allele origin: de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001737115.1
Submitted: (Jun 14, 2021)
Comment:
The patient has an affected son carrying the same variant
Pathogenic
(Mar 17, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000534593.5
Submitted: (Sep 23, 2021)
Comment:
Reported in individuals with features of Stickler syndrome in published literature and segregated with disease in one relative from one family (Kondo et al., 2016; … (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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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 rs1057524114...

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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