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NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 13, 2021)
Last evaluated:
Apr 28, 2021
Accession:
VCV000094902.6
Variation ID:
94902
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)

Allele ID
100802
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237387712 (GRCh38) GRCh38 UCSC
2: 238296355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.238296355G>A
NM_004369.3:c.1182C>T NP_004360.2:p.Thr394= synonymous
NC_000002.12:g.237387712G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:237387711:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00580
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00584
Trans-Omics for Precision Medicine (TOPMed) 0.00468
The Genome Aggregation Database (gnomAD), exomes 0.00588
1000 Genomes Project 0.00319
The Genome Aggregation Database (gnomAD) 0.00392
Links
ClinGen: CA147900
dbSNP: rs114750216
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 4 criteria provided, multiple submitters, no conflicts Apr 28, 2021 RCV000080907.9
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000385251.2
Benign 1 criteria provided, single submitter Dec 1, 2020 RCV000539245.5
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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
(Nov 05, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112814.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310139.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519760.4
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Collagen VI-related myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000428876.3
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 01, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000657241.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 28, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001879934.1
Submitted: (Sep 13, 2021)
Evidence details
Publications
PubMed (1)

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
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Lampe AK Journal of medical genetics 2005 PMID: 15689448
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Text-mined citations for rs114750216...

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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