9-136433147-G-GCGCCCACCCCTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCCTCCAGCCA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_019892.6(INPP5E):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGAGGGGTGGGCG variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000737 in 1,452,132 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_019892.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INPP5E | ENST00000371712.4 | c.1159+7_1159+8insTGGCTGGAGGGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGAGGGGTGGGCG | splice_region_variant, intron_variant | Intron 4 of 9 | 1 | NM_019892.6 | ENSP00000360777.3 | |||
INPP5E | ENST00000676019.1 | c.1057+7_1057+8insTGGCTGGAGGGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGAGGGGTGGGCG | splice_region_variant, intron_variant | Intron 4 of 9 | ENSP00000501984.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 34AN: 148346Hom.: 1 Cov.: 28 FAILED QC
GnomAD4 exome AF: 0.0000737 AC: 107AN: 1452132Hom.: 0 Cov.: 53 AF XY: 0.0000789 AC XY: 57AN XY: 722628
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000229 AC: 34AN: 148460Hom.: 1 Cov.: 28 AF XY: 0.000179 AC XY: 13AN XY: 72516
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at