rs3818562
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000361965.9(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
ENST00000361965.9 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EPS8L3 | NM_133181.4 | c.877C>T | p.His293Tyr | missense_variant | 10/19 | ENST00000361965.9 | NP_573444.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EPS8L3 | ENST00000361965.9 | c.877C>T | p.His293Tyr | missense_variant | 10/19 | 1 | NM_133181.4 | ENSP00000355255 | 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