Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003337946 | SCV004048400 | uncertain significance | Familial cancer of breast | criteria provided, single submitter | clinical testing | The above variant has not be reported previously in affected patients.This variant has not been reported to the ClinVar database.The amino acid Glu at position 454 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. . In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Glu454Lys in HMMR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The p.Glu454Lys variant is novel (not in any individuals) in 1000 Genomes. This variant is classified as uncertain significance as per ACMG guidelines. |