1-151612258-TGGC-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001330723.2(SNX27):c.69_71delCGG(p.Gly24del) variant causes a disruptive inframe deletion change. The variant allele was found at a frequency of 0.0000668 in 1,288,054 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. G23G) has been classified as Likely benign.
Frequency
Consequence
NM_001330723.2 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.000943 AC: 45AN: 47704Hom.: 0 AF XY: 0.00103 AC XY: 28AN XY: 27186
GnomAD4 exome AF: 0.0000668 AC: 86AN: 1288054Hom.: 0 AF XY: 0.0000760 AC XY: 48AN XY: 631698
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at