6-166158517-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001366285.2(TBXT):c.1109A>G(p.Asn370Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.115 in 1,606,472 control chromosomes in the GnomAD database, including 15,123 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. N370N) has been classified as Likely benign.
Frequency
Consequence
NM_001366285.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBXT | NM_001366285.2 | c.1109A>G | p.Asn370Ser | missense_variant | 8/8 | ENST00000366876.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBXT | ENST00000366876.7 | c.1109A>G | p.Asn370Ser | missense_variant | 8/8 | 1 | NM_001366285.2 | P4 | |
TBXT | ENST00000366871.7 | c.932A>G | p.Asn311Ser | missense_variant | 8/8 | 1 | |||
TBXT | ENST00000296946.6 | c.1106A>G | p.Asn369Ser | missense_variant | 9/9 | 5 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.146 AC: 22240AN: 152058Hom.: 2119 Cov.: 33
GnomAD3 exomes AF: 0.142 AC: 34849AN: 244648Hom.: 3957 AF XY: 0.137 AC XY: 18198AN XY: 132900
GnomAD4 exome AF: 0.112 AC: 163149AN: 1454296Hom.: 13002 Cov.: 35 AF XY: 0.111 AC XY: 80164AN XY: 721938
GnomAD4 genome ? AF: 0.146 AC: 22260AN: 152176Hom.: 2121 Cov.: 33 AF XY: 0.150 AC XY: 11194AN XY: 74390
ClinVar
Submissions by phenotype
TBXT-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 02, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at