rs2705897
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004346.4(CASP3):c.308-4A>C 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 0.708 in 1,591,920 control chromosomes in the GnomAD database, including 409,358 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 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_004346.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CASP3 | NM_004346.4 | c.308-4A>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000308394.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CASP3 | ENST00000308394.9 | c.308-4A>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_004346.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.719 AC: 109144AN: 151842Hom.: 40604 Cov.: 31
GnomAD3 exomes AF: 0.645 AC: 149753AN: 232198Hom.: 52117 AF XY: 0.653 AC XY: 82211AN XY: 125862
GnomAD4 exome AF: 0.707 AC: 1017838AN: 1439960Hom.: 368698 Cov.: 32 AF XY: 0.705 AC XY: 504967AN XY: 716228
GnomAD4 genome ? AF: 0.719 AC: 109252AN: 151960Hom.: 40660 Cov.: 31 AF XY: 0.710 AC XY: 52746AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at