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NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000284831.5
Variation ID:
284831
Description:
single nucleotide variant
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NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val)

Allele ID
269068
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.3
Genomic location
21: 46132509 (GRCh38) GRCh38 UCSC
21: 47552423 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_476:g.39391C>T
LRG_476t1:c.3017C>T LRG_476p1:p.Ala1006Val
NC_000021.9:g.46132509C>T
... more HGVS
Protein change
A1006V
Other names
-
Canonical SPDI
NC_000021.9:46132508:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00154
The Genome Aggregation Database (gnomAD) 0.00173
The Genome Aggregation Database (gnomAD), exomes 0.00049
1000 Genomes Project 0.00280
Exome Aggregation Consortium (ExAC) 0.00052
Trans-Omics for Precision Medicine (TOPMed) 0.00181
The Genome Aggregation Database (gnomAD) 0.00198
Links
ClinGen: CA10073140
dbSNP: rs113169531
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 Feb 16, 2018 RCV000397197.4
Likely benign 1 criteria provided, single submitter Dec 19, 2017 RCV000710899.4
Likely benign 1 criteria provided, single submitter Dec 4, 2020 RCV001085888.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A2 - - GRCh38
GRCh37
1252 1370

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000531237.4
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
(Nov 11, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337622.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 19, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841207.1
Submitted: (Aug 31, 2018)
Evidence details
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Bethlem myopathy 1
Allele origin: germline
Invitae
Accession: SCV001019136.3
Submitted: (Jan 07, 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=COL6A2 - - - -

Text-mined citations for rs113169531...

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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