13-52012409-T-TCGGCGGAAGATGGCGGC
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PVS1_StrongPM2BS1_Supporting
The NM_001004127.3(ALG11):c.-4_13dupGAAGATGGCGGCCGGCG(p.Glu5fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000057 in 1,613,776 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004127.3 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152020Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000135 AC: 34AN: 251130Hom.: 0 AF XY: 0.000191 AC XY: 26AN XY: 135860
GnomAD4 exome AF: 0.0000609 AC: 89AN: 1461756Hom.: 0 Cov.: 30 AF XY: 0.0000949 AC XY: 69AN XY: 727154
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152020Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74260
ClinVar
Submissions by phenotype
not provided Uncertain:1
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at