rs59439148
Positions:
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-T
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGGGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG
- chr10-45374099-TGCGGGGGCGGGGGCGGGGGCGGGG-TGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The variant allele was found at a frequency of 0.00000608 in 821,890 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as drug response,risk factor (no stars).
Frequency
Genomes: 𝑓 0.000013 ( 0 hom., cov: 22)
Exomes 𝑓: 0.0000045 ( 0 hom. )
Consequence
Unknown
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.984
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 149892Hom.: 0 Cov.: 22
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GnomAD4 exome AF: 0.00000446 AC: 3AN: 671998Hom.: 0 AF XY: 0.00000614 AC XY: 2AN XY: 325624
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GnomAD4 genome AF: 0.0000133 AC: 2AN: 149892Hom.: 0 Cov.: 22 AF XY: 0.0000137 AC XY: 1AN XY: 73032
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ClinVar
Significance: drug response; risk factor
Submissions summary: Other:2
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Atherosclerosis, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jan 01, 2004 | - - |
Asthma, diminished response to antileukotriene treatment in Other:1
drug response, no assertion criteria provided | literature only | OMIM | Jan 01, 2004 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at