2-75493309-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001135032.2(EVA1A):c.386G>A(p.Arg129His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,718 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001135032.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EVA1A | NM_001135032.2 | c.386G>A | p.Arg129His | missense_variant | Exon 4 of 4 | ENST00000393913.8 | NP_001128504.1 | |
EVA1A | NM_001369524.1 | c.386G>A | p.Arg129His | missense_variant | Exon 6 of 6 | NP_001356453.1 | ||
EVA1A | NM_001369525.1 | c.386G>A | p.Arg129His | missense_variant | Exon 5 of 5 | NP_001356454.1 | ||
EVA1A | NM_032181.3 | c.386G>A | p.Arg129His | missense_variant | Exon 4 of 4 | NP_115557.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461718Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727160
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.386G>A (p.R129H) alteration is located in exon 4 (coding exon 2) of the EVA1A gene. This alteration results from a G to A substitution at nucleotide position 386, causing the arginine (R) at amino acid position 129 to be replaced by a histidine (H). 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