rs35983258
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP5BP4
In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: 𝑓 0.000020 ( 0 hom., cov: 14)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.485
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PP5
?
Variant 11-5250053-G-A is Pathogenic according to our data. Variant chr11-5250053-G-A is described in ClinVar as [Pathogenic]. Clinvar id is 15033.Status of the report is no_assertion_criteria_provided, 0 stars.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.8). . Strength limited to SUPPORTING due to the PP5.
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: 0.0000195 AC: 1AN: 51222Hom.: 0 Cov.: 14
GnomAD3 genomes
?
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0000195 AC: 1AN: 51222Hom.: 0 Cov.: 14 AF XY: 0.0000397 AC XY: 1AN XY: 25208
GnomAD4 genome
?
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51222
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14
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1
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25208
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ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Hereditary persistence of fetal hemoglobin Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 1992 | - - |
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