1-114684369-CAA-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000036.3(AMPD1):c.382-7_382-6del variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,124,668 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000036.3 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AMPD1 | NM_000036.3 | c.382-7_382-6del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000520113.7 | |||
AMPD1 | NM_001172626.2 | c.370-7_370-6del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AMPD1 | ENST00000520113.7 | c.382-7_382-6del | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000036.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 134456Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.0000116 AC: 13AN: 1124668Hom.: 0 AF XY: 0.0000142 AC XY: 8AN XY: 562978
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 134456Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 64854
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at