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NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Aug 2, 2017)
Last evaluated:
Sep 22, 2016
Accession:
VCV000101484.2
Variation ID:
101484
Description:
single nucleotide variant
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NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)

Allele ID
107231
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 189008089 (GRCh38) GRCh38 UCSC
2: 189872815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.189872815G>C
NC_000002.12:g.189008089G>C
NG_007404.1:g.38717G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:189008088:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA006425
dbSNP: rs587779715
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 Sep 22, 2016 RCV000623577.2
Pathogenic 1 no assertion criteria provided - RCV000087723.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL3A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1856 1907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 22, 2016)
criteria provided, single submitter
Method: clinical testing
None
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV000740559.1
Submitted: (Aug 02, 2017)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Ehlers-Danlos syndrome, type 4
Allele origin: germline
Collagen Diagnostic Laboratory,University of Washington
Accession: SCV000120616.1
Submitted: (Dec 19, 2013)
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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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 rs587779715...

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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 Oct 16, 2021