NM_001989.5:c.611G>A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001989.5(EVX1):c.611G>A(p.Arg204Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,468 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R204L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001989.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EVX1 | NM_001989.5 | c.611G>A | p.Arg204Gln | missense_variant | Exon 2 of 3 | ENST00000496902.7 | NP_001980.1 | |
EVX1 | NM_001304519.2 | c.65G>A | p.Arg22Gln | missense_variant | Exon 2 of 3 | NP_001291448.1 | ||
EVX1 | NM_001304520.2 | c.65G>A | p.Arg22Gln | missense_variant | Exon 3 of 4 | NP_001291449.1 | ||
EVX1-AS | NR_120507.1 | n.269+1730C>T | intron_variant | Intron 1 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EVX1 | ENST00000496902.7 | c.611G>A | p.Arg204Gln | missense_variant | Exon 2 of 3 | 1 | NM_001989.5 | ENSP00000419266.3 | ||
EVX1 | ENST00000222761.7 | c.556G>A | p.Gly186Arg | missense_variant | Exon 2 of 3 | 1 | ENSP00000222761.3 | |||
EVX1 | ENST00000580535.1 | c.271G>A | p.Gly91Arg | missense_variant | Exon 3 of 4 | 2 | ENSP00000463759.1 | |||
EVX1-AS | ENST00000517726.1 | n.269+1730C>T | intron_variant | Intron 1 of 3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249680Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135472
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461232Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 726938
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at