rs2335306
Positions:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
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 0.0092 ( 1 hom., cov: 30)
Failed GnomAD Quality Control
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.666
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-1.02).
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: 0.00 AC: 999AN: 108964Hom.: 1 Cov.: 30 FAILED QC
GnomAD3 genomes
?
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999
AN:
108964
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Cov.:
30
FAILED QC
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00917 AC: 1000AN: 109062Hom.: 1 Cov.: 30 AF XY: 0.00958 AC XY: 513AN XY: 53522
GnomAD4 genome
?
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
1000
AN:
109062
Hom.:
Cov.:
30
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AC XY:
513
AN XY:
53522
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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