14-50908981-TA-TAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002863.5(PYGL):c.2178-28_2178-27dupTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,535,152 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_002863.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PYGL | ENST00000216392.8 | c.2178-27_2178-26insTT | intron_variant | Intron 17 of 19 | 1 | NM_002863.5 | ENSP00000216392.7 | |||
PYGL | ENST00000532462.5 | c.2178-27_2178-26insTT | intron_variant | Intron 17 of 19 | 1 | ENSP00000431657.1 | ||||
PYGL | ENST00000544180.6 | c.2076-27_2076-26insTT | intron_variant | Intron 16 of 18 | 2 | ENSP00000443787.1 | ||||
PYGL | ENST00000532107.2 | n.351-27_351-26insTT | intron_variant | Intron 2 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000463 AC: 7AN: 151166Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249322Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135044
GnomAD4 exome AF: 0.0000383 AC: 53AN: 1383872Hom.: 0 Cov.: 33 AF XY: 0.0000332 AC XY: 23AN XY: 691964
GnomAD4 genome AF: 0.0000529 AC: 8AN: 151280Hom.: 0 Cov.: 0 AF XY: 0.0000406 AC XY: 3AN XY: 73930
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at