6-145735712-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001360064.2(EPM2A):c.-114+196A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.696 in 958,956 control chromosomes in the GnomAD database, including 232,615 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001360064.2 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.725 AC: 110173AN: 151956Hom.: 40470 Cov.: 32
GnomAD4 exome AF: 0.690 AC: 556707AN: 806888Hom.: 192103 Cov.: 11 AF XY: 0.689 AC XY: 261857AN XY: 379790
GnomAD4 genome AF: 0.725 AC: 110263AN: 152068Hom.: 40512 Cov.: 32 AF XY: 0.722 AC XY: 53652AN XY: 74332
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at