ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.510G>A (p.Lys170=)

gnomAD frequency: 0.00001  dbSNP: rs397517143
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000520548 SCV000616401 likely benign RASopathy 2024-09-17 reviewed by expert panel curation The c.510G>A variant in the HRAS gene is a synonymous (silent) variant (p.Lys170=) at a nucleotide that is not predicted by SpliceAI to impact splicing (BP4, BP7). The filtering allele frequency in gnomAD v4.1.0 is 0.02525% (17/44900 alleles) in the East Asian population meeting BS1. This variant has been identified in patients with an alternate molecular basis for disease (BP5; LMM and GeneDx internal data; GTR ID's: 21766, 26957; ClinVar SCV000062144.5; SCV000168832.9). In summary, this variant meets criteria to be classified as likely benign for autosomal dominant RASopathies based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy Variant Curation Expert Panel: BS1, BP4, BP5, BP7 (Specification Version 2.1, 09/17/2024)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038466 SCV000062144 likely benign not specified 2012-01-17 criteria provided, single submitter clinical testing Lys170Lys in exon 5B of HRAS: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence.
GeneDx RCV000038466 SCV000168832 benign not specified 2013-08-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000473658 SCV000560896 likely benign Costello syndrome 2024-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038466 SCV001363425 benign not specified 2019-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162338 SCV003864010 likely benign Cardiovascular phenotype 2022-11-15 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.

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