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NM_001848.3(COL6A1):c.324C>T (p.Gly108=)

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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:
Mar 30, 2021
Accession:
VCV000196329.9
Variation ID:
196329
Description:
single nucleotide variant
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NM_001848.3(COL6A1):c.324C>T (p.Gly108=)

Allele ID
193490
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 45984365 (GRCh38) GRCh38 UCSC
21: 47404279 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_475:g.7617C>T
LRG_475t1:c.324C>T LRG_475p1:p.Gly108=
NC_000021.8:g.47404279C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000021.9:45984364:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00187
The Genome Aggregation Database (gnomAD), exomes 0.00181
The Genome Aggregation Database (gnomAD) 0.00421
1000 Genomes Project 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
Trans-Omics for Precision Medicine (TOPMed) 0.00118
Links
ClinGen: CA243240
dbSNP: rs138646508
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 30, 2021 RCV001311578.3
Benign 1 criteria provided, single submitter Jun 27, 2016 RCV000177134.5
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000366297.2
Benign 1 criteria provided, single submitter Nov 30, 2020 RCV000546667.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A1 - - GRCh38
GRCh37
1110 1204

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 27, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228964.5
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: SCV000436481.3
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 30, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV000657061.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Mar 30, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000721745.2
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(Jan 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501808.3
Submitted: (Jul 04, 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 rs138646508...

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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