chr7-23516439-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001282757.2(TRA2A):c.-44A>G variant causes a 5 prime UTR premature start codon gain change. The variant allele was found at a frequency of 0.0000948 in 1,614,248 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282757.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152246Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000795 AC: 20AN: 251480Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135916
GnomAD4 exome AF: 0.0000773 AC: 113AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.0000729 AC XY: 53AN XY: 727242
GnomAD4 genome AF: 0.000263 AC: 40AN: 152364Hom.: 0 Cov.: 31 AF XY: 0.000416 AC XY: 31AN XY: 74514
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.260A>G (p.Y87C) alteration is located in exon 3 (coding exon 3) of the TRA2A gene. This alteration results from a A to G substitution at nucleotide position 260, causing the tyrosine (Y) at amino acid position 87 to be replaced by a cysteine (C). 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