ClinVar Miner

Submissions for variant NM_004327.4(BCR):c.2356G>A (p.Ala786Thr)

gnomAD frequency: 0.00002  dbSNP: rs1259370853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224390 SCV003920437 uncertain significance Chronic myelogenous leukemia, BCR-ABL1 positive; Acute lymphoid leukemia 2021-03-30 criteria provided, single submitter clinical testing BCR NM_004327.3 exon 10 p.Ala786Thr (c.2356G>A): This variant has not been reported in the literature but is present in 6/34372 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs564064573). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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