1-1232859-CGGGG-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_080605.4(B3GALT6):c.585_588delGGGG(p.Gly196fs) variant causes a frameshift change. The variant allele was found at a frequency of 0.000000724 in 1,381,436 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G195G) has been classified as Likely benign.
Frequency
Consequence
NM_080605.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.24e-7 AC: 1AN: 1381436Hom.: 0 AF XY: 0.00000146 AC XY: 1AN XY: 684854
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at