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NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Apr 16, 2020
Accession:
VCV000994310.1
Variation ID:
994310
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val)

Allele ID
981797
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47979554 (GRCh38) GRCh38 UCSC
12: 48373337 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.12:g.47979554C>A
NC_000012.11:g.48373337C>A
NM_001844.5:c.2690G>T MANE Select NP_001835.3:p.Gly897Val missense
... more HGVS
Protein change
G828V, G897V
Other names
-
Canonical SPDI
NC_000012.12:47979553:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 16, 2020 RCV001287496.1
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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
1125 1136

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 16, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001474191.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The COL2A1 c.2690G>T; p.Gly897Val variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is absent from general population … (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.

Record last updated Jan 30, 2021