ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.510G>A (p.Lys170=) (rs397517143)

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Total submissions: 4
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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 2017-04-03 reviewed by expert panel curation The c.510G>A (p.Lys170=) variant is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). Computational prediction tools and conservation analysis suggest that the p.Lys170= variant does not impact the protein (BP4).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; LMM and GeneDx internal data; GTR ID's: 21766, 26957; ClinVar SCV000062144; SCV000168832). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5, BP4.
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.
Invitae RCV000473658 SCV000560896 likely benign Costello syndrome 2016-11-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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.

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