Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125382 | SCV000168833 | benign | not specified | 2012-08-28 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588758 | SCV000698550 | likely benign | not provided | 2016-07-05 | criteria provided, single submitter | clinical testing | Variant summary: The HRAS c.*1C>T variant involves the alteration of a conserved nucleotide in 3 UTR region. One in silico tool (MutationTaster) predicts a damaging outcome for this variant. This variant was found in 3/110284 control chromosomes, observed exclusively in the European (Non-Finnish) subpopulation at a frequency of 0.00005 (3/59992). This frequency is about 20 times the estimated maximal expected allele frequency of a pathogenic HRAS variant (0.0000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. This variant has been reported in one Noonan syndrome (NS) patient who did not carry another pathogenic variant in other NS-related genes but did not segregate with the disease in that family (Lee, 2007). One clinical lab has classified this variant as benign without evidence to independently evaluate. Taken together, this variant is currently classified as Probable Normal Variant (a.k.a Likely Benign). |
Prevention |
RCV003894980 | SCV004712916 | likely benign | HRAS-related condition | 2020-09-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |