rs2308941
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001229.5(CASP9):c.305C>T(p.Thr102Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0147 in 1,614,176 control chromosomes in the GnomAD database, including 219 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001229.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CASP9 | NM_001229.5 | c.305C>T | p.Thr102Ile | missense_variant | 2/9 | ENST00000333868.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CASP9 | ENST00000333868.10 | c.305C>T | p.Thr102Ile | missense_variant | 2/9 | 1 | NM_001229.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0102 AC: 1546AN: 152166Hom.: 14 Cov.: 33
GnomAD3 exomes AF: 0.0102 AC: 2572AN: 251494Hom.: 20 AF XY: 0.0101 AC XY: 1371AN XY: 135922
GnomAD4 exome AF: 0.0152 AC: 22254AN: 1461892Hom.: 205 Cov.: 38 AF XY: 0.0147 AC XY: 10655AN XY: 727246
GnomAD4 genome ? AF: 0.0102 AC: 1546AN: 152284Hom.: 14 Cov.: 33 AF XY: 0.00941 AC XY: 701AN XY: 74478
ClinVar
Submissions by phenotype
CASP9-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 11, 2020 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at