ClinVar Miner

Submissions for variant NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) (rs121913250)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000444217 SCV000503736 pathogenic Cutaneous melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425150 SCV000503737 pathogenic Non-small cell lung cancer 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435447 SCV000503738 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420396 SCV000503739 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430635 SCV000503740 likely pathogenic Chronic myelogenous leukemia 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438291 SCV000503741 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420637 SCV000503742 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430032 SCV000503743 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440262 SCV000503744 likely pathogenic Myelodysplastic syndrome 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423088 SCV000503745 likely pathogenic Acute myeloid leukemia 2016-05-31 no assertion criteria provided literature only
GeneDx RCV000158985 SCV000208924 pathogenic not provided 2015-06-02 criteria provided, single submitter clinical testing This mutation is denoted as c.34 G>C at the cDNA level or p.Gly12Arg (G12R) at the protein level. The G12R missense mutation in the NRAS gene has not been published as a germline mutation or benign polymorphism, to our knowledge. G12R has been reported previously as a somatic mutation in association with several different types of cancer (Catalogue of Somatic Mutations in Cancer; Cirstea et al., 2010), primarily in haematopoietic and lymphoid tissues. A different missense substitution at the same position (G12C) has been seen at GeneDx several times and another (G12V) also has been reported previously as a somatic mutation (Catalogue of Somatic Mutations in Cancer; Cirstea et al., 2010). In Filippi et al., a patient with the adjacent G13D mutation was described as having dysmorphic features (including macrocephaly, bilateral epicanthal folds and cafe-au-lait spots) in addition to clinical and heamological features consistent with a diagnosis of juvenile myelomonocytic leukemia (JMML) (Filippi et al., 2009). The variant is found in NOONAN panel(s).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.