Submissions for variant NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)

dbSNP: rs121913529

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003398604	SCV004105185	likely pathogenic	KRAS-related condition	2022-10-12	criteria provided, single submitter	clinical testing	The KRAS c.35G>C variant is predicted to result in the amino acid substitution p.Gly12Ala. To our knowledge, this variant has not been reported as a germline variant in individuals with Noonan/RASopathy phenotypes. However, several KRAS missense variants affecting Gly12, including p.Gly12Ala, have been reported as a somatic variant in multiple cancers (see for example - Brose et al. 2002. PubMed ID: 12460918; Lièvre et al. 2006. PubMed ID: 16618717). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038266	SCV000061935	pathogenic	Non-small cell lung carcinoma	2007-12-07	no assertion criteria provided	clinical testing
Database of Curated Mutations (DoCM)	RCV000434342	SCV000504476	pathogenic	Neoplasm of the large intestine	2015-07-14	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000441134	SCV000504477	likely pathogenic	Gastrointestinal stromal tumor	2015-07-14	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000423968	SCV000504478	not provided	Lung adenocarcinoma	2016-03-10	no assertion provided	literature only
Database of Curated Mutations (DoCM)	RCV000038266	SCV000504479	pathogenic	Non-small cell lung carcinoma	2014-10-02	no assertion criteria provided	literature only
Database of Curated Mutations (DoCM)	RCV000443636	SCV000504480	pathogenic	Neoplasm of ovary	2014-10-02	no assertion criteria provided	literature only
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center	RCV000984117	SCV001132087	pathogenic	Multiple myeloma	2019-08-31	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001355876	SCV001550889	pathogenic	not provided		no assertion criteria provided	clinical testing
Institute of Medical Sciences, Banaras Hindu University	RCV001374446	SCV001571410	pathogenic	Gallbladder cancer	2020-10-30	no assertion criteria provided	research