7-23506255-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013293.5(TRA2A):c.653G>T(p.Gly218Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000162 in 1,607,422 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013293.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000852 AC: 21AN: 246386Hom.: 0 AF XY: 0.0000750 AC XY: 10AN XY: 133338
GnomAD4 exome AF: 0.0000172 AC: 25AN: 1455350Hom.: 0 Cov.: 32 AF XY: 0.0000166 AC XY: 12AN XY: 724032
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152072Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.653G>T (p.G218V) alteration is located in exon 6 (coding exon 6) of the TRA2A gene. This alteration results from a G to T substitution at nucleotide position 653, causing the glycine (G) at amino acid position 218 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at