16:2131781-2131782 - > T

Classification

Category 1

CMH MAF

2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

Genes

Consequences
gene: TSC2 synonym(s): LAM, TSC4, TSC2, ENSG00000103197

NM_000548.3 [CDS] Reportable
hgvs_c: NM_000548.3:c.3797dupT
reference AA: L
variant AA: LX
reference codon: ctg
variant codon: cTtg
cDNA pos: 3902
CDS pos: 3796
translation impact: frameshift
protein sequence: NP_000539.2
AA pos: 1266
hgvs_p: NP_000539.2:p.Pro1267AlafsTer55
blosum: 4

NM_001077183.1 [CDS]
hgvs_c: NM_001077183.1:c.3665dupT
reference AA: L
variant AA: LX
reference codon: ctg
variant codon: cTtg
cDNA pos: 3770
CDS pos: 3664
translation impact: frameshift
protein sequence: NP_001070651.1
AA pos: 1222
hgvs_p: NP_001070651.1:p.Pro1223AlafsTer32
blosum: 4

NM_001114382.1 [CDS]
hgvs_c: NM_001114382.1:c.3797dupT
reference AA: L
variant AA: LX
reference codon: ctg
variant codon: cTtg
cDNA pos: 3902
CDS pos: 3796
translation impact: frameshift
protein sequence: NP_001107854.1
AA pos: 1266
hgvs_p: NP_001107854.1:p.Pro1267AlafsTer32
blosum: 4

dbSNP

rs796053505

ClinVar

207775
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Tuberous sclerosis 2

Export Variant

Curation

Likely pathogenic