Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000520797 | SCV000616470 | benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.369C>T (p.Arg123=) variant in the HRAS gene is 0.089% (13/8638) of East Asian 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) |
Prevention |
RCV000242213 | SCV000311012 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV001079542 | SCV000560899 | benign | Costello syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588992 | SCV000698556 | benign | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | Variant summary: The HRAS c.369C>T (p.Arg123Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. It is 81 nucleotides upstream from exon-intron boundary. 2/5 splice prediction tools predict a creation of cryptic splice donor site. ESE finder predicts that this variant may affect binding of ESE site(s). However, these predictions have yet to be confirmed by functional studies. This variant was found in 13/120964 control chromosomes, exclusively observed in the East Asian subpopulation at a frequency of 0.001505 (13/8638). This frequency is about 602 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 East Asian origin. In addition, one clinical diagnostic laboratory has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as benign. |
Genome Diagnostics Laboratory, |
RCV001813437 | SCV002060515 | benign | Noonan syndrome and Noonan-related syndrome | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257620 | SCV002537978 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-13 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002347960 | SCV002621871 | likely benign | Cardiovascular phenotype | 2022-03-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Ce |
RCV000588992 | SCV004134984 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | HRAS: BP4, BP7 |
ARUP Laboratories, |
RCV000588992 | SCV004564966 | benign | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing |