chr1-92624267-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001350197.2(EVI5):c.1736A>G(p.Gln579Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,612,430 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. Q579Q) has been classified as Benign.
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.1736A>G | p.Gln579Arg | missense_variant | 16/20 | ENST00000684568.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EVI5 | ENST00000684568.2 | c.1736A>G | p.Gln579Arg | missense_variant | 16/20 | NM_001350197.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152168Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251298Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135822
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1460144Hom.: 0 Cov.: 30 AF XY: 0.0000248 AC XY: 18AN XY: 726512
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152286Hom.: 0 Cov.: 29 AF XY: 0.0000134 AC XY: 1AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 13, 2023 | The c.1688A>G (p.Q563R) alteration is located in exon 14 (coding exon 14) of the EVI5 gene. This alteration results from a A to G substitution at nucleotide position 1688, causing the glutamine (Q) at amino acid position 563 to be replaced by an arginine (R). 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