rs8036080
Positions:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBS1BS2
The variant allele was found at a frequency of 0.0188 in 152,262 control chromosomes in the GnomAD database, including 50 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 0.019 ( 50 hom., cov: 32)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.84
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.33).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0188 (2865/152262) while in subpopulation NFE AF= 0.0293 (1995/67994). AF 95% confidence interval is 0.0283. There are 50 homozygotes in gnomad4. There are 1352 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 50 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.0188 AC: 2866AN: 152144Hom.: 50 Cov.: 32
GnomAD3 genomes
?
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2866
AN:
152144
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Cov.:
32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0188 AC: 2865AN: 152262Hom.: 50 Cov.: 32 AF XY: 0.0182 AC XY: 1352AN XY: 74460
GnomAD4 genome
?
AF:
AC:
2865
AN:
152262
Hom.:
Cov.:
32
AF XY:
AC XY:
1352
AN XY:
74460
Gnomad4 AFR
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Asia WGS
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AC:
6
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at