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Table 2 Pathogenic/likely pathogenic germline variants in six samples of carotid body tumor

From: Mutational load in 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