chr1-51356822-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001981.3(EPS15):c.2569G>A(p.Glu857Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000548 in 1,461,066 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001981.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249602Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135040
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1461066Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 726864
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2569G>A (p.E857K) alteration is located in exon 25 (coding exon 25) of the EPS15 gene. This alteration results from a G to A substitution at nucleotide position 2569, causing the glutamic acid (E) at amino acid position 857 to be replaced by a lysine (K). 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