ClinVar Miner

Submissions for variant NM_006270.5(RRAS):c.333C>T (p.Asn111=)

gnomAD frequency: 0.71974  dbSNP: rs1865077
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589712 SCV000698691 benign not provided 2017-04-11 criteria provided, single submitter clinical testing Variant summary: The RRAS c.333C>T (p.Asn111Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF. This variant was found in 85345/121332 control chromosomes from ExAC (including 30402 homozygotes) at a frequency of 0.7034006, thus allele T is the major allele at this position. Therefore, this variant is classified as Benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195552 SCV001365940 benign not specified 2018-12-28 criteria provided, single submitter clinical testing p.Asn111Asn in exon 3 of RRAS: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 84.20% (9744/11572) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1865077).
Labcorp Genetics (formerly Invitae), Labcorp RCV001518485 SCV001727181 benign Noonan syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000589712 SCV001858108 benign not provided 2018-09-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000589712 SCV005307013 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001195552 SCV001925154 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001195552 SCV001956844 benign not specified no assertion criteria provided clinical testing

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