rs146286958
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001372051.1(CASP8):āc.892A>Gā(p.Ile298Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000608 in 1,614,136 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001372051.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CASP8 | NM_001372051.1 | c.892A>G | p.Ile298Val | missense_variant | 8/9 | ENST00000673742.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CASP8 | ENST00000673742.1 | c.892A>G | p.Ile298Val | missense_variant | 8/9 | NM_001372051.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000592 AC: 90AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000724 AC: 182AN: 251486Hom.: 0 AF XY: 0.000750 AC XY: 102AN XY: 135916
GnomAD4 exome AF: 0.000610 AC: 892AN: 1461890Hom.: 2 Cov.: 34 AF XY: 0.000605 AC XY: 440AN XY: 727248
GnomAD4 genome ? AF: 0.000591 AC: 90AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.000537 AC XY: 40AN XY: 74450
ClinVar
Submissions by phenotype
Autoimmune lymphoproliferative syndrome type 2B Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 15, 2024 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 27, 2017 | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at