Submissions for variant NM_005343.4(HRAS):c.81T>C (p.His27=)

gnomAD frequency: 0.34645  dbSNP: rs12628

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000149841	SCV000616397	benign	RASopathy	2017-04-03	reviewed by expert panel	curation	The filtering allele frequency of the c.81T>C (p.His27=) variant in the HRAS gene is 36.7% for African chromosomes by the Exome Aggregation Consortium (3874/10274 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). Additional case-level data provided by: SCV000058315; SCV000062146; SCV000196686.
Eurofins Ntd Llc (ga)	RCV000038468	SCV000058315	benign	not specified	2017-02-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038468	SCV000062146	benign	not specified	2007-07-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038468	SCV000311016	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000509400	SCV000603967	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659682	SCV000781528	uncertain significance	Costello syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV000659682	SCV001000089	benign	Costello syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000509400	SCV001827592	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32296843, 26607044, 12540507, 21514184, 23150177, 16488657)
Genome-Nilou Lab	RCV000659682	SCV001933113	benign	Costello syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813233	SCV002060519	benign	Noonan syndrome and Noonan-related syndrome	2021-07-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426537	SCV002679707	benign	Cardiovascular phenotype	2018-12-04	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.
Baylor Genetics	RCV000149841	SCV000196686	benign	RASopathy		no assertion criteria provided	clinical testing	Variant classified using ACMG guidelines
GenomeConnect, ClinGen	RCV000509400	SCV000607341	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Faculté Pluridciplinaire Nador, Université Mohamed Premier	RCV001250943	SCV001250926	likely benign	Squamous cell lung carcinoma	2020-05-05	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038468	SCV001924805	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038468	SCV001972954	benign	not specified		no assertion criteria provided	clinical testing