1-92624321-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001350197.2(EVI5):c.1682G>C(p.Arg561Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,613,012 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R561C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001350197.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EVI5 | NM_001350197.2 | c.1682G>C | p.Arg561Pro | missense_variant | 16/20 | ENST00000684568.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EVI5 | ENST00000684568.2 | c.1682G>C | p.Arg561Pro | missense_variant | 16/20 | NM_001350197.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 151948Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251090Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135728
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461064Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 726902
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 151948Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 74202
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2021 | The c.1634G>C (p.R545P) alteration is located in exon 14 (coding exon 14) of the EVI5 gene. This alteration results from a G to C substitution at nucleotide position 1634, causing the arginine (R) at amino acid position 545 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