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NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 23, 2020
Accession:
VCV000881132.3
Variation ID:
881132
Description:
single nucleotide variant
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NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)

Allele ID
869898
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47976055 (GRCh38) GRCh38 UCSC
12: 48369838 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48369838C>T
NC_000012.12:g.47976055C>T
NG_008072.1:g.33448G>A
... more HGVS
Protein change
V1100I, V1169I
Other names
-
Canonical SPDI
NC_000012.12:47976054:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
dbSNP: rs760390497
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV001109930.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001109931.2
Uncertain significance 1 criteria provided, single submitter Jun 23, 2020 RCV001337220.1
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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
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: SCV001267314.1
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)
Uncertain significance
(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: SCV001267315.1
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)
Uncertain significance
(Jun 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001530811.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces valine with isoleucine at codon 1169 of the COL2A1 protein (p.Val1169Ile). The valine residue is highly conserved and there is a … (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 rs760390497...

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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