2-176080418-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001080458.2(EVX2):c.1120G>A(p.Ala374Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000834 in 1,079,364 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080458.2 missense
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: 0.0000137 AC: 2AN: 145592Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000573 AC: 1AN: 1746Hom.: 0 AF XY: 0.000852 AC XY: 1AN XY: 1174
GnomAD4 exome AF: 0.00000750 AC: 7AN: 933772Hom.: 0 Cov.: 32 AF XY: 0.00000683 AC XY: 3AN XY: 439184
GnomAD4 genome AF: 0.0000137 AC: 2AN: 145592Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 70822
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1120G>A (p.A374T) alteration is located in exon 3 (coding exon 3) of the EVX2 gene. This alteration results from a G to A substitution at nucleotide position 1120, causing the alanine (A) at amino acid position 374 to be replaced by a threonine (T). 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