Table 1

Molecular analysis of patient 1: germline and somatic alterations identified by RNA sequencing and whole exome sequencing of blood and tumour (glioblastoma, percentage of tumour cells: 80%)

Gene nameVariant classificationHGVScHGVSpConsequenceConstitutional DNA VAF (%)Tumour DNA VAF (%)Tumour RNA VAF (%)
PMS2PV/SNVNM_000088.4:
c.695G>T		NP_000526.2: p.(Gly232Val)Missense variant555068
NF1PV/insertionNM_000267.3:
c.2033dup		NP_000258.1: p.(Ile679Aspfs*21)Frameshift variant20470
PMS2PV/SNVNM_000535.7:
c.2275+1G>A		.Splice donor variant45290
TP53PV/SNVNM_000546.6:
c.817C>T		NP_000537.3:
p.(Arg273Cys)		Missense variant.4877
FANCAPV/SNVNM_000135.4:
c.3624C>T		NP_000126.2: p.(Ser1208=)Splice region and synonymous variant.470
TGFBR2PV/SNVNM_003242.6:
c.1336G>A		NP_001020018.1: p.(Asp446Asn)Missense variant.4615
SETD2PV/insertionNM_001349370.3:
c.4087dup		NP_001336299.1: p.(Arg1363Lysfs*8)Frameshift variant.4522
SMOPV/SNVNM_005631.5:
c.1965G>A		NP_005622.1:
p.(Trp655*)		Nonsense.4442
KDM6APV/SNVNM_001291415.2:
c.4207C>T		NP_001278344.1: p.(Arg1403*)Nonsense.410
POLEPV/SNVNM_006231.4
c.857C>G		NP_006222.2: p.(Pro286Arg)Missense variant.4158
ATRPV/SNVNM_001184.4:
c.7597C>T		NP_001175.2: p.(Arg2533*)Nonsense.3831
NF1PV/SNVNM_000267.3:
c.532G>T		NP_000258.1:
p.(Glu178*)		Nonsense.3750
APCPV/SNVNM_000038.6:
c.2626C>T		NP_000029.2:
p.(Arg876*)		Nonsense.3450
TP53PV/SNVNM_001126112.3:
c.586C>T		NP_001119584.1: p.(Arg196*)Nonsense.300
PPP2R1APV/SNVNM_001363656.2:
c.7C>T		NP_001350585.1: p.(Arg3Trp)Missense variant.2528
ARID1BPV /SNVNM_001346813.1:
c.2455C>T		NP_001333742.1: p.(Gln819*)Nonsense.1416

  • PV, pathogenic variant; SVN, small nucleotide variant; VAF, variant allele frequency.