ClinVar Miner

Submissions for variant NM_004327.4(BCR):c.685C>T (p.Pro229Ser)

gnomAD frequency: 0.00001  dbSNP: rs1441856766
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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 RCV003224391 SCV003920415 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 1 p.Pro229Ser (c.685C>T): This variant has not been reported in the literature but is present in 1/8728 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/22-23523832-C-T). This variant amino acid Serine (Ser) is present in 3 species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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