rs2501796
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 0.9 in 152,250 control chromosomes in the GnomAD database, including 63,435 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 0.90 ( 63435 hom., cov: 34)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.937
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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).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.992 is higher than 0.05.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes 0.900 AC: 136957AN: 152132Hom.: 63410 Cov.: 34
GnomAD3 genomes
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136957
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152132
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Cov.:
34
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.900 AC: 137034AN: 152250Hom.: 63435 Cov.: 34 AF XY: 0.903 AC XY: 67228AN XY: 74470
GnomAD4 genome
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AC:
137034
AN:
152250
Hom.:
Cov.:
34
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AC XY:
67228
AN XY:
74470
Gnomad4 AFR
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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