chr1-109750764-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6_ModerateBS2
The NM_133181.4(EPS8L3):c.1666G>A(p.Gly556Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000243 in 1,614,168 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_133181.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000697 AC: 106AN: 152174Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000477 AC: 120AN: 251352Hom.: 0 AF XY: 0.000412 AC XY: 56AN XY: 135862
GnomAD4 exome AF: 0.000196 AC: 287AN: 1461876Hom.: 1 Cov.: 31 AF XY: 0.000182 AC XY: 132AN XY: 727232
GnomAD4 genome AF: 0.000696 AC: 106AN: 152292Hom.: 1 Cov.: 32 AF XY: 0.000766 AC XY: 57AN XY: 74460
ClinVar
Submissions by phenotype
EPS8L3-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at