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NM_004369.4(COL6A3):c.1313-17A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Jun 20, 2016
Accession:
VCV000094905.3
Variation ID:
94905
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.1313-17A>G

Allele ID
100805
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237381516 (GRCh38) GRCh38 UCSC
2: 238290159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_473:g.37692A>G
LRG_473t1:c.1313-17A>G
NC_000002.11:g.238290159T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:237381515:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.02376 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00645
The Genome Aggregation Database (gnomAD) 0.02624
1000 Genomes Project 0.02376
Exome Aggregation Consortium (ExAC) 0.00903
The Genome Aggregation Database (gnomAD) 0.02418
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02633
Trans-Omics for Precision Medicine (TOPMed) 0.02663
Trans-Omics for Precision Medicine (TOPMed) 0.02579
Links
ClinGen: CA147909
dbSNP: rs7579816
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 5 criteria provided, multiple submitters, no conflicts Jun 20, 2016 RCV000080910.9
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A3 - - GRCh38
GRCh37
1865 1968

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310141.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 20, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519257.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 05, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112817.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925194.1
Submitted: (Sep 23, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957751.1
Submitted: (Sep 30, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Text-mined citations for rs7579816...

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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 Nov 27, 2021