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NM_004369.3(COL6A3):c.9494-10C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Mar 14, 2019)
Last evaluated:
Oct 25, 2018
Accession:
VCV000285453.2
Variation ID:
285453
Description:
single nucleotide variant
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NM_004369.3(COL6A3):c.9494-10C>T

Allele ID
269690
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 237324824 (GRCh38) GRCh38 UCSC
2: 238233467 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.238233467G>A
NC_000002.12:g.237324824G>A
NM_057167.3:c.8876-10C>T
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
The Genome Aggregation Database (gnomAD), exomes 0.00053
Exome Aggregation Consortium (ExAC) 0.00058
Trans-Omics for Precision Medicine (TOPMed) 0.00033
The Genome Aggregation Database (gnomAD) 0.00048
Links
dbSNP: rs184617787
ClinGen: CA2187242
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 15, 2017 RCV000336468.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000340262.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 25, 2018 RCV000725664.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL6A3 - - GRCh38
GRCh37
1336 1405

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Collagen Type VI-Related Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000428689.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000338474.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Likely benign
(Jun 15, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000732497.1
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
(Oct 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001018816.1
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL6A3 - - - -

Record last updated Dec 17, 2019