rs73045343
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003879.7(CFLAR):c.793+2850G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.182 in 152,142 control chromosomes in the GnomAD database, including 2,979 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.18 ( 2978 hom., cov: 32)
Exomes 𝑓: 0.15 ( 1 hom. )
Consequence
CFLAR
NM_003879.7 intron
NM_003879.7 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.78
Genes affected
CFLAR (HGNC:1876): (CASP8 and FADD like apoptosis regulator) The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.52).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.292 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFLAR | NM_003879.7 | c.793+2850G>A | intron_variant | ENST00000309955.8 | |||
CFLAR-AS1 | NR_040030.1 | n.401+626C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFLAR | ENST00000309955.8 | c.793+2850G>A | intron_variant | 1 | NM_003879.7 | P2 | |||
CFLAR-AS1 | ENST00000415011.6 | n.432+626C>T | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.182 AC: 27612AN: 151976Hom.: 2977 Cov.: 32
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GnomAD4 exome AF: 0.146 AC: 7AN: 48Hom.: 1 AF XY: 0.184 AC XY: 7AN XY: 38
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GnomAD4 genome ? AF: 0.182 AC: 27626AN: 152094Hom.: 2978 Cov.: 32 AF XY: 0.178 AC XY: 13245AN XY: 74380
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ClinVar
Not reported inComputational scores
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Name
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at