ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.137A>G (p.Asn46Ser)

gnomAD frequency: 0.00001  dbSNP: rs1237910576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699899 SCV000828630 uncertain significance Bloom syndrome 2022-01-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 46 of the BLM protein (p.Asn46Ser). This variant is not present in population databases (gnomAD no frequency). 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: 577210). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030678 SCV001193506 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Ambry Genetics RCV002386236 SCV002696717 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-22 criteria provided, single submitter clinical testing The p.N46S variant (also known as c.137A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 137. The asparagine at codon 46 is replaced by serine, an amino acid with highly 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.
Natera, Inc. RCV000699899 SCV002089892 uncertain significance Bloom syndrome 2018-05-04 no assertion criteria provided clinical testing

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