Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000090.3(COL3A1):c.792A>G (p.Gly264=)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 10, 2021)
Last evaluated:
Aug 3, 2020
Accession:
VCV000498589.5
Variation ID:
498589
Description:
single nucleotide variant
Help

NM_000090.3(COL3A1):c.792A>G (p.Gly264=)

Allele ID
490013
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 188990354 (GRCh38) GRCh38 UCSC
2: 189855080 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_3:g.20982A>G
LRG_3t1:c.792A>G LRG_3p1:p.Gly264=
NC_000002.11:g.189855080A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:188990353:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA62590591
dbSNP: rs113304344
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Aug 3, 2020 RCV001524472.1
Likely benign 1 criteria provided, single submitter Jan 30, 2020 RCV001476799.1
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Apr 5, 2018 RCV000593829.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 15, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000703683.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 05, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001006228.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jan 30, 2020)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, type 4
Allele origin: germline
Invitae
Accession: SCV001681013.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Aug 03, 2020)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV001734333.1
Submitted: (Jun 11, 2021)
Evidence details
Likely benign
(Jun 21, 2018)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001850198.1
Submitted: (Sep 10, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL3A1 - - - -

Text-mined citations for rs113304344...

Help
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 Sep 12, 2021