Familial medullary thyroid carcinoma
An Autosomal dominant mode(s) within the Cancer disorders category
Conflicting classifications of pathogenicity
1
Pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_020975.6(RET):c.2410G>A (p.Val804Met) | Single nucleotide variant | Chr10:43119548 | Pathogenic/Likely pathogenic | Missense variant | rs79658334 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_020975.6(RET):c.1894G>A (p.Glu632Lys) | Single nucleotide variant | Chr10:43114494 | Conflicting classifications of pathogenicity | Missense variant | rs377767407 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.2753T>C (p.Met918Thr) | Single nucleotide variant | Chr10:43121968 | Pathogenic/Likely pathogenic | Missense variant | rs74799832 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) |
| NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) | Single nucleotide variant | Chr10:43114501 | Pathogenic | Missense variant | rs75996173 |
.Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) .Neuberg Centre For Genomic Medicine, NCGM .Suma Genomics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution