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NM_001844.5(COL2A1):c.195C>T (p.Asp65=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(4);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 21, 2020
Accession:
VCV000284038.6
Variation ID:
284038
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.195C>T (p.Asp65=)

Allele ID
268275
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 48000016 (GRCh38) GRCh38 UCSC
12: 48393799 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48393799G>A
NC_000012.12:g.48000016G>A
NM_001844.5:c.195C>T MANE Select NP_001835.3:p.Asp65= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:48000015:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00041
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00079
Exome Aggregation Consortium (ExAC) 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00055
The Genome Aggregation Database (gnomAD), exomes 0.00035
Links
dbSNP: rs202210896
ClinGen: CA6536076
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 6, 2017 RCV000304714.3
Likely benign 1 criteria provided, single submitter Nov 1, 2016 RCV000659384.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001114415.1
Benign 1 criteria provided, single submitter Apr 27, 2017 RCV001114416.1
Likely benign 1 criteria provided, single submitter Mar 24, 2020 RCV001285526.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 21, 2020 RCV000725382.4
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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
1101 1112

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729605.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Connective tissue disease
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781195.1
Submitted: (Dec 20, 2017)
Evidence details
Uncertain significance
(Oct 20, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336501.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001272295.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Type II Collagenopathies
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001272296.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Mar 24, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471977.1
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(Oct 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001120834.3
Submitted: (Jan 07, 2021)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL2A1 - - - -

Text-mined citations for rs202210896...

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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 May 23, 2021