rs17207005
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The variant allele was found at a frequency of 0.0294 in 152,160 control chromosomes in the GnomAD database, including 84 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 0.029 ( 84 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -2.08
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.98).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0294 (4466/152160) while in subpopulation NFE AF= 0.0462 (3142/67984). AF 95% confidence interval is 0.0449. There are 84 homozygotes in gnomad4. There are 2067 alleles in male gnomad4 subpopulation. Median coverage is 31. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 84 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: 0.0294 AC: 4464AN: 152044Hom.: 83 Cov.: 31
GnomAD3 genomes
?
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4464
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152044
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Cov.:
31
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0294 AC: 4466AN: 152160Hom.: 84 Cov.: 31 AF XY: 0.0278 AC XY: 2067AN XY: 74394
GnomAD4 genome
?
AF:
AC:
4466
AN:
152160
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Cov.:
31
AF XY:
AC XY:
2067
AN XY:
74394
Gnomad4 AFR
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Asia WGS
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20
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