chr7-35202453-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001077653.2(TBX20):c.1321G>A(p.Ala441Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000414 in 1,593,002 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A441P) has been classified as Uncertain significance.
Frequency
Consequence
NM_001077653.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000464 AC: 7AN: 150900Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000903 AC: 21AN: 232454Hom.: 0 AF XY: 0.000127 AC XY: 16AN XY: 125588
GnomAD4 exome AF: 0.0000409 AC: 59AN: 1442102Hom.: 0 Cov.: 33 AF XY: 0.0000614 AC XY: 44AN XY: 716072
GnomAD4 genome AF: 0.0000464 AC: 7AN: 150900Hom.: 0 Cov.: 31 AF XY: 0.0000952 AC XY: 7AN XY: 73560
ClinVar
Submissions by phenotype
EBV-positive nodal T- and NK-cell lymphoma Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at