19-55079834-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_133180.3(EPS8L1):c.262C>T(p.Leu88Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,460,766 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_133180.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247068Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133856
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460766Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726614
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.262C>T (p.L88F) alteration is located in exon 5 (coding exon 4) of the EPS8L1 gene. This alteration results from a C to T substitution at nucleotide position 262, causing the leucine (L) at amino acid position 88 to be replaced by a phenylalanine (F). 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