ClinVar Miner

Submissions for variant NM_005343.4(HRAS):c.249C>T (p.Ala83=)

gnomAD frequency: 0.00004  dbSNP: rs111372582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038455 SCV000062128 likely benign not specified 2010-09-13 criteria provided, single submitter clinical testing
Invitae RCV000531092 SCV000635082 likely benign Costello syndrome 2023-11-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257382 SCV002537972 likely benign Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter curation
Ambry Genetics RCV003162337 SCV003863999 likely benign Cardiovascular phenotype 2023-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003964858 SCV004783282 likely benign HRAS-related condition 2020-11-10 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).

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