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NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000093803.6
Variation ID:
93803
Description:
single nucleotide variant
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NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)

Allele ID
99705
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 45990826 (GRCh38) GRCh38 UCSC
21: 47410740 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.9:g.45990826C>T
NG_008674.1:g.14078C>T
NM_001848.3:c.1056C>T MANE Select NP_001839.2:p.Asp352= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000021.9:45990825:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00403
The Genome Aggregation Database (gnomAD) 0.00434
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00484
1000 Genomes Project 0.00319
Trans-Omics for Precision Medicine (TOPMed) 0.00408
The Genome Aggregation Database (gnomAD) 0.00426
Exome Aggregation Consortium (ExAC) 0.00155
Links
ClinGen: CA147307
dbSNP: rs116343553
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Aug 27, 2012 RCV000079740.7
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000303800.2
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV000554029.5
Benign 1 criteria provided, single submitter Nov 18, 2019 RCV001703987.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A1 - - GRCh38
GRCh37
1123 1217

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Aug 27, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000111623.8
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: SCV000436503.3
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
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000656973.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Nov 18, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529255.4
Submitted: (Sep 25, 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=COL6A1 - - - -

Text-mined citations for rs116343553...

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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 Dec 04, 2021