5-150297444-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001012301.4(ARSI):c.1480G>A(p.Glu494Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000472 in 1,609,572 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001012301.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARSI | NM_001012301.4 | c.1480G>A | p.Glu494Lys | missense_variant | 2/2 | ENST00000328668.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARSI | ENST00000328668.8 | c.1480G>A | p.Glu494Lys | missense_variant | 2/2 | 1 | NM_001012301.4 | P1 | |
ARSI | ENST00000515301.2 | c.1051G>A | p.Glu351Lys | missense_variant | 2/2 | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000972 AC: 24AN: 246846Hom.: 0 AF XY: 0.000120 AC XY: 16AN XY: 133394
GnomAD4 exome AF: 0.0000480 AC: 70AN: 1457244Hom.: 1 Cov.: 29 AF XY: 0.0000731 AC XY: 53AN XY: 724700
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74484
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at