10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGG
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The variant allele was found at a frequency of 0.000921 in 821,978 control chromosomes in the GnomAD database, including 3 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00069 ( 0 hom., cov: 22)
Exomes 𝑓: 0.00097 ( 3 hom. )
Consequence
Unknown
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.984
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
|---|
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
|---|
Frequencies
GnomAD3 genomes ? AF: 0.000687 AC: 103AN: 149892Hom.: 0 Cov.: 22
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GnomAD4 exome AF: 0.000973 AC: 654AN: 671984Hom.: 3 AF XY: 0.000946 AC XY: 308AN XY: 325616
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GnomAD4 genome ? AF: 0.000687 AC: 103AN: 149994Hom.: 0 Cov.: 22 AF XY: 0.000752 AC XY: 55AN XY: 73144
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at