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NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Apr 6, 2021
Accession:
VCV000166939.6
Variation ID:
166939
Description:
single nucleotide variant
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NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)

Allele ID
177211
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237352524 (GRCh38) GRCh38 UCSC
2: 238261167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004369.3:c.6751C>T NP_004360.2:p.Arg2251Trp missense
LRG_473:g.66684C>T
LRG_473t1:c.6751C>T LRG_473p1:p.Arg2251Trp
... more HGVS
Protein change
R1644W, R2045W
Other names
-
Canonical SPDI
NC_000002.12:237352523:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00127
The Genome Aggregation Database (gnomAD) 0.00118
1000 Genomes Project 0.00060
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00146
The Genome Aggregation Database (gnomAD), exomes 0.00031
Exome Aggregation Consortium (ExAC) 0.00045
Links
ClinGen: CA233825
dbSNP: rs116690555
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 2 criteria provided, multiple submitters, no conflicts Jul 15, 2016 RCV000248266.5
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000354274.3
Likely benign 1 criteria provided, single submitter Dec 3, 2020 RCV000653606.5
Likely benign 1 criteria provided, single submitter Apr 6, 2021 RCV001706017.1
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310206.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 15, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202548.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Collagen VI-related myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000428764.3
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)
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000775489.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 06, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000722043.2
Submitted: (Sep 23, 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 rs116690555...

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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 20, 2021