rs753044214
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 8P and 8B. PVS1BS1BS2
The NM_182641.4(BPTF):c.2598del(p.Glu867ArgfsTer16) variant causes a frameshift change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000345 in 1,537,806 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_182641.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BPTF | NM_182641.4 | c.2598del | p.Glu867ArgfsTer16 | frameshift_variant | 8/28 | ENST00000306378.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BPTF | ENST00000306378.11 | c.2598del | p.Glu867ArgfsTer16 | frameshift_variant | 8/28 | 1 | NM_182641.4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000136 AC: 2AN: 147198Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000380 AC: 528AN: 1390608Hom.: 0 Cov.: 29 AF XY: 0.000398 AC XY: 275AN XY: 691378
GnomAD4 genome ? AF: 0.0000136 AC: 2AN: 147198Hom.: 0 Cov.: 32 AF XY: 0.0000140 AC XY: 1AN XY: 71504
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at