ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3210+2dup

gnomAD frequency: 0.00004  dbSNP: rs755232267
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019263 SCV001180595 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-06 criteria provided, single submitter clinical testing The c.3210+2dupT intronic variant is located 2 nucleotide(s) after coding exon 15 of the BLM gene. This variant results from a duplication of one nucleotide at nucleotide position 3210. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV002282427 SCV002571641 uncertain significance not provided 2022-09-09 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001827197 SCV003263159 uncertain significance Bloom syndrome 2022-09-03 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs755232267, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 823211). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001827197 SCV002090527 uncertain significance Bloom syndrome 2021-03-25 no assertion criteria provided clinical testing

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