rs1421378
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.512 in 152,160 control chromosomes in the GnomAD database, including 22,448 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 0.51 ( 22445 hom., cov: 33)
Exomes 𝑓: 0.26 ( 3 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.47
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.77 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.512 AC: 77804AN: 152000Hom.: 22398 Cov.: 33
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33
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GnomAD4 exome AF: 0.262 AC: 11AN: 42Hom.: 3 AF XY: 0.281 AC XY: 9AN XY: 32
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GnomAD4 genome ? AF: 0.512 AC: 77909AN: 152118Hom.: 22445 Cov.: 33 AF XY: 0.511 AC XY: 37996AN XY: 74368
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77909
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152118
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33
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37996
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74368
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Asia WGS
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at