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NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 19, 2018)
Last evaluated:
Dec 12, 2017
Accession:
VCV000162977.1
Variation ID:
162977
Description:
single nucleotide variant
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NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=)

Allele ID
174500
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p21.32
Genomic location
6: 33165778 (GRCh38) GRCh38 UCSC
6: 33133555 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.33165778C>T
NC_000006.11:g.33133555C>T
NM_080680.2:c.4521G>A NP_542411.2:p.Gln1507= synonymous
NG_011589.1:g.31691G>A
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00284
Exome Aggregation Consortium (ExAC) 0.00170
1000 Genomes Project 0.00080
The Genome Aggregation Database (gnomAD) 0.00158
Trans-Omics for Precision Medicine (TOPMed) 0.00219
The Genome Aggregation Database (gnomAD), exomes 0.00166
Links
dbSNP: rs114580597
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 12, 2017 RCV000150348.5
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000266107.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000269760.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000328356.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000358398.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000366651.1
Likely benign 1 criteria provided, single submitter Nov 1, 2016 RCV000659344.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL11A2 - - GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh38
GRCh37
344 351

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
Fibrochondrogenesis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000462266.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Weissenbacher-Zweymuller Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000462269.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Otospondylomegaepiphyseal Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000462270.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Nonsyndromic Hearing Loss, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000462267.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Stickler Syndrome, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000462268.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000197458.4
Submitted: (Feb 23, 2018)
Evidence details
Comment:
Gln1507Gln in Exon 63 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is ... (more)
Likely benign
(Dec 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000516503.4
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)
Likely benign
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Connective tissue disorder
Allele origin: germline
Center for Human Genetics, Inc
Accession: SCV000781155.1
Submitted: (Dec 20, 2017)
Evidence details
Likely benign
(Sep 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000344562.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=COL11A2 - - - -

Record last updated Jun 17, 2019