11-102845216-GA-GAA
Variant names:
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
Variant has been reported in ClinVar as risk factor (no stars).
Frequency
Genomes: 𝑓 0.65 ( 34852 hom., cov: 0)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -0.333
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.885 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes AF: 0.654 AC: 99304AN: 151794Hom.: 34785 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.655 AC: 99430AN: 151912Hom.: 34852 Cov.: 0 AF XY: 0.662 AC XY: 49154AN XY: 74246
GnomAD4 genome
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99430
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49154
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74246
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ClinVar
Significance: risk factor
Submissions summary: Other:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Coronary heart disease, susceptibility to, 6 Other:1
Dec 12, 2002
OMIM
Significance: risk factor
Review Status: no assertion criteria provided
Collection Method: literature only
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Computational scores
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Calibrated prediction
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at