chr2-176080421-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001080458.2(EVX2):c.1117G>C(p.Ala373Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000369 in 1,083,178 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000138 AC: 2AN: 145214Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000213 AC: 2AN: 937964Hom.: 0 Cov.: 32 AF XY: 0.00000227 AC XY: 1AN XY: 441194
GnomAD4 genome AF: 0.0000138 AC: 2AN: 145214Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 70686
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1117G>C (p.A373P) alteration is located in exon 3 (coding exon 3) of the EVX2 gene. This alteration results from a G to C substitution at nucleotide position 1117, causing the alanine (A) at amino acid position 373 to be replaced by a proline (P). 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