ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.477G>A (p.Leu159=)

gnomAD frequency: 0.00222  dbSNP: rs140060409
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000522477 SCV000616468 benign RASopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.477G>A (p.Leu159=) variant in the HRAS gene is 0.185% (140/65296) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038465 SCV000062143 benign not specified 2011-12-22 criteria provided, single submitter clinical testing Leu159Leu in Exon 05B of HRAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (27/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140060409).
Invitae RCV000234776 SCV000288859 benign Costello syndrome 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000038465 SCV000311014 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001538584 SCV001159311 benign not provided 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001538584 SCV001756258 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813238 SCV002060518 benign Noonan syndrome and Noonan-related syndrome 2021-06-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000038465 SCV002066061 benign not specified 2021-11-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257372 SCV002537983 benign Hereditary cancer-predisposing syndrome 2020-11-05 criteria provided, single submitter curation
Ambry Genetics RCV002336104 SCV002638705 benign Cardiovascular phenotype 2021-07-22 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.
CeGaT Center for Human Genetics Tuebingen RCV001538584 SCV004134983 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing HRAS: BP4, BP7, BS1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001538584 SCV001953392 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001538584 SCV001967775 likely benign not provided no assertion criteria provided clinical testing

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