rs7865453
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XM_011518392.4(FCN2):c.68-1768A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.11 in 1,296,572 control chromosomes in the GnomAD database, including 8,725 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 0.14 ( 1638 hom., cov: 33)
Exomes 𝑓: 0.11 ( 7087 hom. )
Consequence
FCN2
XM_011518392.4 intron
XM_011518392.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0930
Genes affected
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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=-0.96).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.216 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FCN2 | XM_006717015.5 | c.68-2544A>C | intron_variant | ||||
FCN2 | XM_011518392.4 | c.68-1768A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.136 AC: 20728AN: 152100Hom.: 1629 Cov.: 33
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GnomAD4 exome AF: 0.106 AC: 121503AN: 1144354Hom.: 7087 AF XY: 0.106 AC XY: 61319AN XY: 581090
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GnomAD4 genome AF: 0.137 AC: 20782AN: 152218Hom.: 1638 Cov.: 33 AF XY: 0.134 AC XY: 10008AN XY: 74428
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at