Table 2 Pathogenic/likely pathogenic germline variants in six samples of carotid body tumor
Gene | dbSNP | GenBank | Coordinate | Nucleotide change | Amino acid change | Genotype | Predictions | Clinical significance (dbSNP/ClinVar) | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
SIFT | PolyPhen2 | MutationTaster | LRT | ||||||||
SDHB | – | NM_003000.2 | chr1: 17,354,321 | c.463C > A | p.Pro155Thr | Het | Deleterious (0) | Probably damaging (1) | Disease-causing (p-values = 1) | Neutral (0) | N/A |
SDHB | rs74315370 | NM_003000.2 | chr1: 17,371,320 | c.136C > T | p.Arg46* | Het | Deleterious (0) | Benign (0) | Disease-causing (p-values = 1) | Neutral (0) | Pathogenic |
SDHD | rs104894302 | NM_003002.3 | chr11: 111,959,726 | c.305A > G | p.His102Arg | Het | Deleterious (0) | Probably damaging (0.99) | Disease-causing (p-values = 1) | Neutral (0) | Pathogenic |
RET | rs148935214 | NM_020975.4 | chr10:43,609,994 | c.1946C > T | p.Ser649Leu | Het | Deleterious (0) | Probably damaging (1) | Disease-causing (p-values = 1) | Neutral (0) | Pathogenic |
SDHC | rs769177037 | NM_003001.3 | chr1: 161,298,257 | c.149G > A | p.Arg50His | Het | Deleterious (0) | Probably damaging (1) | Not disease-causing (p-values = 0) | Neutral (0) | Uncertain significance |