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NM_000090.3(COL3A1):c.1188C>T (p.Gly396=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(5);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
8 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 28, 2020
Accession:
VCV000450335.16
Variation ID:
450335
Description:
single nucleotide variant
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NM_000090.3(COL3A1):c.1188C>T (p.Gly396=)

Allele ID
443101
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 188994076 (GRCh38) GRCh38 UCSC
2: 189858802 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.189858802C>T
NC_000002.12:g.188994076C>T
NM_000090.3:c.1188C>T NP_000081.1:p.Gly396= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:188994075:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA073901
dbSNP: rs745743884
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 2, 2018 RCV000777601.2
Likely benign 1 criteria provided, single submitter Mar 2, 2017 RCV000618454.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Feb 20, 2018 RCV000757115.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 28, 2020 RCV001078840.3
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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
1836 1887

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885234.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The COL3A1 c.1188C>T; p.Gly396Gly variant (rs745743884; ClinVar variant ID 450335), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor … (more)
Uncertain significance
(Jul 10, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618907.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1188 C>T (G396=) variant of uncertain significance in the COL3A1 gene has not been published as pathogenic or been reported as benign to our … (more)
Likely benign
(Aug 02, 2018)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV000913467.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Feb 01, 2018)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333512.1
Submitted: (Mar 03, 2020)
Evidence details
Likely benign
(Mar 02, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738516.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Uncertain significance
(Jun 04, 2020)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, type 4
Allele origin: germline
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV001468336.1
Submitted: (Dec 29, 2020)
Evidence details
Comment:
COL3A1 NM_ 000090.3 exon 17 p.Gly396= (c.1188C>T): This variant has not been reported in the literature but is present in 0.03% (12/30612) of South Asian … (more)
Likely benign
(Jun 28, 2020)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, type 4
Allele origin: germline
Invitae
Accession: SCV001014673.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001153219.6
Submitted: (Jul 04, 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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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 rs745743884...

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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 Jul 10, 2021