ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) (rs11554290)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000424960 SCV000503611 pathogenic Cutaneous melanoma 2016-03-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435687 SCV000503612 pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000037574 SCV000503613 pathogenic Non-small cell lung cancer 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424721 SCV000503614 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438052 SCV000503615 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420832 SCV000503616 likely pathogenic Chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430593 SCV000503617 likely pathogenic Nasopharyngeal Neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441317 SCV000503618 likely pathogenic Acute myeloid leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419710 SCV000503619 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430407 SCV000503620 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440367 SCV000503621 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422278 SCV000503622 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432961 SCV000503623 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439264 SCV000503624 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422078 SCV000503625 likely pathogenic Adrenocortical carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431883 SCV000503626 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445249 SCV000503627 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424455 SCV000503628 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
GeneDx RCV000413804 SCV000490986 pathogenic not provided 2015-05-04 criteria provided, single submitter clinical testing The Q61R missense variant in the NRAS gene has been reported previously in association with NRAS-related disorders (Rivera et al., 2010; Wong et al., 2014). Q61R was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Functional studies of the Q61R variant have shown that it leads to constitutive ERK signaling and thus dysregulation of the MAPK pathway (Wong et al., 2014). In addition, missense variants in nearby residues (T50I, G60E) have been reported in the Human Gene Mutation Database in association with Noonan syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037574 SCV000061232 pathogenic Non-small cell lung cancer 2011-08-12 criteria provided, single submitter clinical testing
OMIM RCV000014914 SCV000035170 pathogenic Follicular thyroid carcinoma 2014-01-15 no assertion criteria provided literature only
OMIM RCV000032847 SCV000056616 pathogenic Epidermal nevus 2014-01-15 no assertion criteria provided literature only
OMIM RCV000114744 SCV000148627 pathogenic Congenital giant melanocytic nevus 2014-01-15 no assertion criteria provided literature only
OMIM RCV000114745 SCV000148628 pathogenic Neurocutaneous melanosis 2014-01-15 no assertion criteria provided literature only
OMIM RCV000148032 SCV000195534 pathogenic Epidermal nevus syndrome 2014-01-15 no assertion criteria provided literature only

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