16:2112587-2112587 G > A

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.1347G>A
reference AA: M
variant AA: I
reference codon: atG
variant codon: atA
cDNA pos: 1453
CDS pos: 1347
translation impact: non_synonymous
protein sequence: NP_000539.2
AA pos: 449
hgvs_p: NP_000539.2:p.Met449Ile
blosum: 1
SIFT: tolerated (0.05)
PolyPhen2: benign (0.444)

NM_001077183.1 [CDS]
hgvs_c: NM_001077183.1:c.1347G>A
reference AA: M
variant AA: I
reference codon: atG
variant codon: atA
cDNA pos: 1453
CDS pos: 1347
translation impact: non_synonymous
protein sequence: NP_001070651.1
AA pos: 449
hgvs_p: NP_001070651.1:p.Met449Ile
blosum: 1
SIFT: tolerated (0.14)
PolyPhen2: benign (0.413)

NM_001114382.1 [CDS]
hgvs_c: NM_001114382.1:c.1347G>A
reference AA: M
variant AA: I
reference codon: atG
variant codon: atA
cDNA pos: 1453
CDS pos: 1347
translation impact: non_synonymous
protein sequence: NP_001107854.1
AA pos: 449
hgvs_p: NP_001107854.1:p.Met449Ile
blosum: 1
SIFT: tolerated (0.14)
PolyPhen2: benign (0.413)

Export Variant

Curation

Likely pathogenic