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NM_004369.4(COL6A3):c.6156+4C>T

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000094952.6
Variation ID:
94952
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.6156+4C>T

Allele ID
100852
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237361735 (GRCh38) GRCh38 UCSC
2: 238270378 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.238270378G>A
LRG_473:g.57473C>T
LRG_473t1:c.6156+4C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:237361734:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00579 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00934
The Genome Aggregation Database (gnomAD), exomes 0.01143
Exome Aggregation Consortium (ExAC) 0.01196
1000 Genomes Project 0.00579
Trans-Omics for Precision Medicine (TOPMed) 0.00879
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00969
Links
ClinGen: CA147988
dbSNP: rs111228504
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Jan 15, 2016 RCV000080957.11
Benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000533568.4
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000288171.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A3 - - GRCh38
GRCh37
1882 1962

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 15, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000196797.6
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
(Jul 13, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112864.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310198.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: unknown
Mendelics
Accession: SCV001136255.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Collagen VI-related myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000428771.3
Submitted: (Feb 20, 2020)
Evidence details
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)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000657366.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000150844.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Text-mined citations for rs111228504...

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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 30, 2021