ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.488C>T (p.Ser163Phe)

gnomAD frequency: 0.00002  dbSNP: rs745819553
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460104 SCV000543396 uncertain significance Bloom syndrome 2024-12-07 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 163 of the BLM protein (p.Ser163Phe). This variant is present in population databases (rs745819553, gnomAD 0.003%). This missense change has been observed in individual(s) with male breast cancer (PMID: 30613976). ClinVar contains an entry for this variant (Variation ID: 405327). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV001023203 SCV001185045 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-06 criteria provided, single submitter clinical testing The p.S163F variant (also known as c.488C>T), located in coding exon 2 of the BLM gene, results from a C to T substitution at nucleotide position 488. The serine at codon 163 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This variant was detected in a cohort of 523 Italian male breast cancer patients (Rizzolo P et al. Int J Cancer, 2019 07;145:390-400). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001764373 SCV001989834 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25938944, 30613976, 32522261)
Fulgent Genetics, Fulgent Genetics RCV000460104 SCV002781352 uncertain significance Bloom syndrome 2022-05-23 criteria provided, single submitter clinical testing
Mendelics RCV004698834 SCV005200741 uncertain significance Hereditary cancer 2024-08-12 criteria provided, single submitter clinical testing

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