![]() These reports do not provide unequivocal conclusions about association of the variant with Hemochromatosis Type 1. At least one publication reported an association for the variant with mild to moderate changes in serum ferritin and/or transferrin levels in indivduals who were compound heterozygotes for this variant and one of the common disease variants, however these individuals did not have clinical symptoms of iron load typically found in patients diagnosed with Hemochromatosis Type 1 (e.g. However, the variant has also been found in compound heterozygosity with these other disease variants in controls, and additional studies did not find association of the variant with the Hemochromatosis phenotype (e.g. This data suggested a possibly pathogenic role for the p.S65C variant. c.193A>T has been reported in association with Hemochromatosis Type 1 in at least one published study, in which the variant was enriched in individuals affected with Hemochromatosis who did not have two alleles with some combination of the more common disease mutations p.C282Y and p.H63D (e.g. This frequency is not significantly higher than expected for a pathogenic variant in HFE causing Hemochromatosis Type 1 (0.01 vs 0.046), allowing no conclusion about variant significance. The variant allele was found at a frequency of 0.01 in 251490 control chromosomes in the gnomAD database, including 24 homozygotes. Five of five in-silico tools predict a damaging effect of the variant on protein function. Variant summary: HFE c.193A>T (p.Ser65Cys) results in a non-conservative amino acid change located in the MHC class I-like antigen recognition-like domain (IPR011161) of the encoded protein sequence. ![]() Other names - Canonical SPDI NC_000006.12:26090956:A:T Functional consequence - Global minor allele frequency (GMAF) 0.00399 (T) Allele frequency Trans-Omics for Precision Medicine (TOPMed) 0.00887 Exome Aggregation Consortium (ExAC) 0.01009 The Genome Aggregation Database (gnomAD), exomes 0.01024 The Genome Aggregation Database (gnomAD) 0.01042 1000 Genomes Project 0.00399 Trans-Omics for Precision Medicine (TOPMed) 0.00957 The Genome Aggregation Database (gnomAD) 0.01007 Links Genetic Testing Registry (GTR): GTR000321635 Genetic Testing Registry (GTR): GTR000500796 Genetic Testing Registry (GTR): GTR000568258 UniProtKB: Q30201#VAR_004397 OMIM: 613609.0003 dbSNP: rs1800730 ClinGen: CA339778 Genetic Testing Registry (GTR): GTR000159973 VarSome NM_000410.4(HFE):c.193A>T (p.Ser65Cys) Allele ID 15050 Variant type single nucleotide variant Variant lengthĬytogenetic location 6p22.2 Genomic location 6:
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