Reporte de caso
Published on 8 de agosto de 2025 | http://doi.org/10.5867/medwave.2025.07.3051
Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis
| chr7 | Not reported | NM_017654.3 | p.(Trp513Ter) | PVS1, PM2 | Stop gained | Likely Pathogenic | Heterozygous | |
| chr4 | Not reported | NM_000477.5 | p.(Phe533Cys) | PM2, PP3 | Missense | VUS | Heterozygous | |
| chr7 | rs200449322 | NM_003130.3 | p.(Asp158Asn) | PM2 | Missense | VUS | Heterozygous |
db SNP, Identifier assigned to a single nucleotide polymorphism. HGVSP DNA, Human Genome Variation Society (HGVS) DNA nomenclature standard. HGVS Protein, Human Genome Variation Society (HGVS) Protein nomenclature standard. ACMG, The American College of Medical Genetics and Genomics. PVS1, null variant in a gene where loss of function is a known mechanism of disease. PM2, absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes or ExAC. PP3, multiple lines of computational evidence support a deleterious effect on the gene or gene product.. VUS, Variant of Uncertain Significance.
Source: Table based on genomic analysis data collected and analyzed by the authors.