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NM_002067.4(GNA11):c.626A>T (p.Gln209Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Jul 18, 2016)
Last evaluated:
May 31, 2016
Accession:
VCV000376002.1
Variation ID:
376002
Description:
single nucleotide variant
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NM_002067.4(GNA11):c.626A>T (p.Gln209Leu)

Allele ID
362881
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.3
Genomic location
19: 3118944 (GRCh38) GRCh38 UCSC
19: 3118942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.3118942A>T
NC_000019.10:g.3118944A>T
NM_002067.4:c.626A>T NP_002058.2:p.Gln209Leu missense
NG_033852.2:g.29535A>T
Protein change
Q209L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1057519742
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000425425.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000437415.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000444127.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GNA11 - - GRCh38
GRCh37
20 40

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504629.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/v...
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504630.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (5)
Other databases
http://docm.genome.wustl.edu/v...
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Intraocular melanoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504631.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (3)
Other databases
http://docm.genome.wustl.edu/v...

Citations for this variant

Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. Chen X Oncogene 2014 PMID: 24141786
Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. Ho AL PloS one 2012 PMID: 22808163
Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner. Khalili JS Clinical cancer research : an official journal of the American Association for Cancer Research 2012 PMID: 22733540
Therapeutic implications of the emerging molecular biology of uveal melanoma. Patel M Clinical cancer research : an official journal of the American Association for Cancer Research 2011 PMID: 21444680
Mutations in GNA11 in uveal melanoma. Van Raamsdonk CD The New England journal of medicine 2010 PMID: 21083380
Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. Kalinec G Molecular and cellular biology 1992 PMID: 1328859
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Landis CA Nature 1989 PMID: 2549426
http://docm.genome.wustl.edu/variants/ENST00000078429:c.626A>T - - - -

Record last updated Jun 17, 2019