chr17-34252769-A-G
Position:
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 0.287 in 152,162 control chromosomes in the GnomAD database, including 6,922 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.29 ( 6922 hom., cov: 33)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.103
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BP6
?
Variant 17-34252769-A-G is Benign according to our data. Variant chr17-34252769-A-G is described in ClinVar as [Benign]. Clinvar id is 14207.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.539 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: 0.287 AC: 43582AN: 152044Hom.: 6908 Cov.: 33
GnomAD3 genomes
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33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.287 AC: 43619AN: 152162Hom.: 6922 Cov.: 33 AF XY: 0.296 AC XY: 21990AN XY: 74382
GnomAD4 genome
?
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43619
AN:
152162
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33
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21990
AN XY:
74382
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Asia WGS
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1527
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3478
ClinVar
Significance: Benign
Submissions summary: Pathogenic:1Benign:1Other:3
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Coronary artery disease, development of, in HIV Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 15, 2009 | - - |
CCL2-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 10, 2023 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Mycobacterium tuberculosis, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jan 15, 2009 | - - |
Coronary artery disease, modifier of Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jan 15, 2009 | - - |
Spina bifida, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Jan 15, 2009 | - - |
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