rs7887670
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 0.0114 in 112,307 control chromosomes in the GnomAD database, including 22 homozygotes. There are 335 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 0.011 ( 22 hom., 335 hem., cov: 23)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.634
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0114 (1280/112307) while in subpopulation AFR AF= 0.0386 (1195/30949). AF 95% confidence interval is 0.0368. There are 22 homozygotes in gnomad4. There are 335 alleles in male gnomad4 subpopulation. Median coverage is 23. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 22 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: 0.0113 AC: 1274AN: 112251Hom.: 22 Cov.: 23 AF XY: 0.00956 AC XY: 329AN XY: 34427
GnomAD3 genomes
?
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1274
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112251
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23
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329
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34427
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0114 AC: 1280AN: 112307Hom.: 22 Cov.: 23 AF XY: 0.00971 AC XY: 335AN XY: 34493
GnomAD4 genome
?
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AC:
1280
AN:
112307
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Cov.:
23
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AC XY:
335
AN XY:
34493
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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