ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3267A>G (p.Gln1089=)

gnomAD frequency: 0.00001  dbSNP: rs1396484162
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Total submissions: 5
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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 RCV000768157 SCV000898548 uncertain significance Bloom syndrome 2021-03-30 criteria provided, single submitter clinical testing BLM NM_000057.3 exon 17 p.Gln1089Gln (c.3267A>G): This variant has not been reported in the literature but is present in 2/30704 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768157 SCV001088350 likely benign Bloom syndrome 2023-12-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816825 SCV002071995 likely benign not specified 2021-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003279048 SCV004003110 likely benign Hereditary cancer-predisposing syndrome 2023-05-19 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.
CeGaT Center for Human Genetics Tuebingen RCV003884722 SCV004700149 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing BLM: BP4, BP7

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