rs6548238
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.852 in 152006 control chromosomes in the gnomAD Genomes database, including 55318 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).
Frequency
Genomes: 𝑓 0.85 ( 55318 hom., cov: 31)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.90
Links
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
?
GnomAd highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.897 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: 0.852 AC: 129546AN: 152006Hom.: 55318 Cov.: 31
GnomAD3 genomes
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AC:
129546
AN:
152006
Hom.:
Cov.:
31
Gnomad AFR
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Asia WGS
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3110
AN:
3478
ClinVar
Significance: risk factor
Submissions summary: Other:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Obesity Other:1
risk factor, no assertion criteria provided | clinical testing | Department of Endocrinology, The Second Hospital of Jilin University | Dec 26, 2019 | We found that loci near TMEM18 (rs6548238) may be associated with obesity-related indicators and may increase susceptibility of concurrent type 2 diabetes associated with obesity. - |
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