chr1-92624266-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001350197.2(EVI5):āc.1737A>Cā(p.Gln579His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,812 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001350197.2 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EVI5 | NM_001350197.2 | c.1737A>C | p.Gln579His | missense_variant | 16/20 | ENST00000684568.2 | NP_001337126.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EVI5 | ENST00000684568.2 | c.1737A>C | p.Gln579His | missense_variant | 16/20 | NM_001350197.2 | ENSP00000506999 | P1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460812Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 726814
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at