ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.984A>G (p.Thr328=)

gnomAD frequency: 0.00003  dbSNP: rs377305704
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV002264679 SCV002546370 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-07-07 reviewed by expert panel curation NM_001754.4(RUNX1):c.984A>G (p.Thr328=) is a synonymous variant. There is NO predicted effect on the gene product; REVEL is not calculable. SpliceAI predicts: Acceptor loss 0.00, Donor loss 0.00, Acceptor gain 0.00, Donor gain 0.00. As such, there appears to be NO effect on splicing (BP4. Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score -3.2495 which is < 2.0)(BP7). In summary, this variant meets the criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7.
PreventionGenetics, part of Exact Sciences RCV000252239 SCV000308035 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085797 SCV000638166 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-11-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000252239 SCV002067581 likely benign not specified 2018-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965356 SCV005495289 likely benign Inborn genetic diseases 2024-10-17 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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