rs3818562
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_133181.4(EPS8L3):c.877C>T(p.His293Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.484 in 1,613,184 control chromosomes in the GnomAD database, including 194,190 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_133181.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EPS8L3 | NM_133181.4 | c.877C>T | p.His293Tyr | missense_variant | 10/19 | ENST00000361965.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPS8L3 | ENST00000361965.9 | c.877C>T | p.His293Tyr | missense_variant | 10/19 | 1 | NM_133181.4 | P4 | |
ENST00000431955.1 | n.628-17253G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.418 AC: 63486AN: 151970Hom.: 14717 Cov.: 32
GnomAD3 exomes AF: 0.486 AC: 121648AN: 250458Hom.: 31346 AF XY: 0.494 AC XY: 66824AN XY: 135326
GnomAD4 exome AF: 0.491 AC: 716670AN: 1461096Hom.: 179475 Cov.: 55 AF XY: 0.494 AC XY: 359115AN XY: 726912
GnomAD4 genome ? AF: 0.418 AC: 63506AN: 152088Hom.: 14715 Cov.: 32 AF XY: 0.416 AC XY: 30917AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at