ClinVar Miner

Submissions for variant NM_004985.5(KRAS):c.24A>G (p.Val8=)

gnomAD frequency: 0.00025  dbSNP: rs147406419
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000521225 SCV000616476 likely benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.24A>G (p.Val8=) variant in the KRAS gene is 0.0499% (35/51828) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038261 SCV000061930 likely benign not specified 2010-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000038261 SCV000170025 benign not specified 2014-05-23 criteria provided, single submitter clinical testing 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 a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000038261 SCV000310754 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000521225 SCV000659084 likely benign RASopathy 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994879 SCV001148679 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing KRAS: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038261 SCV001363597 benign not specified 2019-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426568 SCV002741886 benign Cardiovascular phenotype 2021-12-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002477100 SCV002799818 likely benign Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer 2021-08-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000994879 SCV004563099 likely benign not provided 2023-10-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000994879 SCV001552303 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000994879 SCV001919211 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000994879 SCV001927133 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000994879 SCV001953475 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000994879 SCV001980621 likely benign not provided no assertion criteria provided clinical testing

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