rs3092952
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 0.283 in 111,513 control chromosomes in the GnomAD database, including 3,978 homozygotes. There are 9,363 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.28 ( 3978 hom., 9363 hem., cov: 23)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.150
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-1.01).
BP6
?
Variant X-136644791-A-G is Benign according to our data. Variant chrX-136644791-A-G is described in ClinVar as [Benign]. Clinvar id is 810925.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.46 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.283 AC: 31526AN: 111462Hom.: 3975 Cov.: 23 AF XY: 0.277 AC XY: 9326AN XY: 33666
GnomAD3 genomes
?
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31526
AN:
111462
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23
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9326
AN XY:
33666
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.283 AC: 31572AN: 111513Hom.: 3978 Cov.: 23 AF XY: 0.278 AC XY: 9363AN XY: 33727
GnomAD4 genome
?
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31572
AN:
111513
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23
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9363
AN XY:
33727
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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 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Sep 13, 2022 | - - |
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