rs3756450
Positions:
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The variant allele was found at a frequency of 0.231 in 152,110 control chromosomes in the GnomAD database, including 5,313 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.23 ( 5313 hom., cov: 33)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.28
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
?
Variant 5-1448033-A-G is Benign according to our data. Variant chr5-1448033-A-G is described in ClinVar as [Benign]. Clinvar id is 2920605.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.433 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.232 AC: 35192AN: 151992Hom.: 5321 Cov.: 33
GnomAD3 genomes
?
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35192
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151992
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.231 AC: 35197AN: 152110Hom.: 5313 Cov.: 33 AF XY: 0.236 AC XY: 17563AN XY: 74372
GnomAD4 genome
?
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AC:
35197
AN:
152110
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Cov.:
33
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AC XY:
17563
AN XY:
74372
Gnomad4 AFR
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Asia WGS
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AC:
1271
AN:
3478
ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Schizophrenia Benign:1
Benign, criteria provided, single submitter | case-control | Center for Forensic Mental Health, Chiba University | - | - - |
Computational 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