rs3738668
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 0.0726 in 370,050 control chromosomes in the GnomAD database, including 3,997 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.079 ( 1134 hom., cov: 31)
Exomes 𝑓: 0.068 ( 2863 hom. )
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.132
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.56).
BP6
?
Variant 1-39955047-C-A is Benign according to our data. Variant chr1-39955047-C-A is described in ClinVar as [Benign]. Clinvar id is 1223952.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.427 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.0790 AC: 11942AN: 151172Hom.: 1128 Cov.: 31
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GnomAD4 exome AF: 0.0681 AC: 14891AN: 218760Hom.: 2863 AF XY: 0.0649 AC XY: 7193AN XY: 110810
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GnomAD4 genome ? AF: 0.0791 AC: 11968AN: 151290Hom.: 1134 Cov.: 31 AF XY: 0.0833 AC XY: 6154AN XY: 73880
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3478
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 | May 15, 2021 | - - |
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