ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2656C>A (p.His886Asn)

gnomAD frequency: 0.00001  dbSNP: rs765636566
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628618 SCV000749520 uncertain significance Bloom syndrome 2022-09-17 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 886 of the BLM protein (p.His886Asn). This variant is present in population databases (rs765636566, gnomAD 0.04%). 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: 524759). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BLM protein function. 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.
Ambry Genetics RCV002431844 SCV002744081 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-28 criteria provided, single submitter clinical testing The p.H886N variant (also known as c.2656C>A), located in coding exon 12 of the BLM gene, results from a C to A substitution at nucleotide position 2656. The histidine at codon 886 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004783827 SCV005396495 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000628618 SCV005640462 uncertain significance Bloom syndrome 2024-01-06 criteria provided, single submitter clinical testing

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