11-76861086-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_018367.7(ACER3):c.103+7G>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000624 in 1,538,954 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_018367.7 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152160Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000344 AC: 5AN: 145334Hom.: 0 AF XY: 0.0000260 AC XY: 2AN XY: 76904
GnomAD4 exome AF: 0.0000620 AC: 86AN: 1386678Hom.: 0 Cov.: 30 AF XY: 0.0000687 AC XY: 47AN XY: 684084
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152276Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at