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NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Nov 20, 2020
Accession:
VCV000751462.8
Variation ID:
751462
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)

Allele ID
769129
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47978638 (GRCh38) GRCh38 UCSC
12: 48372421 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48372421G>T
NC_000012.12:g.47978638G>T
NG_008072.1:g.30865C>A
... more HGVS
Protein change
P952T, P883T
Other names
-
Canonical SPDI
NC_000012.12:47978637:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00075
Trans-Omics for Precision Medicine (TOPMed) 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00048
The Genome Aggregation Database (gnomAD), exomes 0.00068
The Genome Aggregation Database (gnomAD) 0.00015
The Genome Aggregation Database (gnomAD) 0.00029
1000 Genomes Project 0.00220
Links
dbSNP: rs140740708
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 20, 2020 RCV000928529.6
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001110025.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001114068.2
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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
1214 1225

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Type II Collagenopathies
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001267411.1
Submitted: (Feb 20, 2020)
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: unknown
Allele origin: germline
Illumina Laboratory Services,Illumina
Accession: SCV001271899.1
Submitted: (Feb 20, 2020)
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001074140.3
Submitted: (Jan 07, 2021)
Likely benign
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001825593.1
Submitted: (Sep 02, 2021)
Comment:
This variant is associated with the following publications: (PMID: 28738883)

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 rs140740708...

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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 Jan 08, 2022