ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.351+15A>G

gnomAD frequency: 0.00396  dbSNP: rs199881885
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000280585 SCV000965638 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.351+15A>G variant has a MAF of 0.00809 (0.809%, 524/64,760 alleles) in the European (Non-Finnish) subpopulation of the ExAC cohort that is >/= 0.0015 (0.15%) (BA1). This variant is detected in homozygous state (8) in gnomAD population database (BP2). This intronic variant is predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created (BP4). In addition, evolutionary conservation prediction algorithms predict the site as not being highly conserved (PhyloP score -1.34728 < 0.1) (BP7). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2, BP4, BP7.
PreventionGenetics, part of Exact Sciences RCV000242297 SCV000308033 benign not specified 2017-12-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280585 SCV000435950 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000280585 SCV002401390 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494732 SCV002801843 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia 2022-03-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316392 SCV004015353 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing

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