chrX-154153068-G-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP6
Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Genomes: not found (cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 3.27
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
BP6
?
Variant X-154153068-G-G is Benign according to our data. Variant chrX-154153068-G-G is described in ClinVar as [Likely_benign]. Clinvar id is 10504.Status of the report is no_assertion_criteria_provided, 0 stars.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? Cov.: 0
GnomAD3 genomes
?
Cov.:
0
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
GnomAD4 genome ? Cov.: 0
GnomAD4 genome
?
Cov.:
0
ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:3
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
not provided Benign:1
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
RED CONE POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Apr 02, 1992 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.