rs45631657
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 0.0331 in 110,849 control chromosomes in the GnomAD database, including 70 homozygotes. There are 1,056 hemizygotes in GnomAD. 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 0.033 ( 70 hom., 1056 hem., cov: 22)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.378
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.93).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0331 (3672/110849) while in subpopulation NFE AF= 0.0501 (2653/52944). AF 95% confidence interval is 0.0485. There are 70 homozygotes in gnomad4. There are 1056 alleles in male gnomad4 subpopulation. Median coverage is 22. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 70 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: 0.0331 AC: 3672AN: 110794Hom.: 70 Cov.: 22 AF XY: 0.0320 AC XY: 1056AN XY: 32982
GnomAD3 genomes
?
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3672
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110794
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22
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1056
AN XY:
32982
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0331 AC: 3672AN: 110849Hom.: 70 Cov.: 22 AF XY: 0.0320 AC XY: 1056AN XY: 33047
GnomAD4 genome
?
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AC:
3672
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110849
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22
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1056
AN XY:
33047
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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