Table 1

Results of MPS analysis

TSC2 mutationSampleTotal read countMutant allele read count% mutant allele frequency (AF)
NM_000548.5:
c.1248_1249delinsTT
(p.Gln417*)
FAF18 7264032.2%
AML422400%
Ctrl1794600%
Ctrl2724100%
NM_000548.5:
c.3319G>T
(p.Glu1107*)
FAF24 6225912.4%
Blood21 27700%
Saliva26 58300%
Normal skin26 83200%
AML26 56210.004%
Ctrl117 60000%
Ctrl216 68200%
NM_000548.5:
c.4351dup
(p.Arg1451Profs*73)
FAF28 39300%
Blood24 04200%
Saliva24 38500%
Normal skin33 41500%
AML31 401497215.8%
Ctrl121 67500%
Ctrl219 67500%
NM_000548.5:
c.4712A>G
(p.Tyr1571Cys)
FAF555500%
Blood532400%
Saliva764100%
Normal skin869810.01%
AML7941167621.1%
Ctrl110 98100%
Ctrl2553500%
  • Note: The c.1248_1249delinsTT (CC>TT) variant was not assessed in normal samples from this patient since it is due to UV mutation,7 and such mutations have never been seen in the TSC germline (LOVD accessed on 11 July 2021).

  • AML, angiomyolipoma; Ctrl1,Ctrl2, negative controls; FAF, facial angiofibroma.