rs7173049
Positions:
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The variant allele was found at a frequency of 0.22 in 161,388 control chromosomes in the GnomAD database, including 4,095 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.22 ( 3860 hom., cov: 33)
Exomes 𝑓: 0.22 ( 235 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.308
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BP6
?
Variant 15-73952269-A-G is Benign according to our data. Variant chr15-73952269-A-G is described in ClinVar as [Benign]. Clinvar id is 1266506.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.371 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.220 AC: 33425AN: 151978Hom.: 3847 Cov.: 33
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GnomAD4 exome AF: 0.216 AC: 2003AN: 9292Hom.: 235 AF XY: 0.206 AC XY: 985AN XY: 4772
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GnomAD4 genome ? AF: 0.220 AC: 33470AN: 152096Hom.: 3860 Cov.: 33 AF XY: 0.223 AC XY: 16561AN XY: 74344
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 16, 2019 | This variant is associated with the following publications: (PMID: 30986821) - |
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