chr6-31575254-G-A
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 0.131 in 474,386 control chromosomes in the GnomAD database, including 4,807 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (★★★).
Frequency
Consequence
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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Frequencies
GnomAD3 genomes AF: 0.138 AC: 20989AN: 152008Hom.: 1578 Cov.: 31
GnomAD3 exomes AF: 0.116 AC: 17554AN: 150892Hom.: 1279 AF XY: 0.118 AC XY: 9726AN XY: 82290
GnomAD4 exome AF: 0.128 AC: 41363AN: 322260Hom.: 3225 Cov.: 0 AF XY: 0.125 AC XY: 22845AN XY: 183234
GnomAD4 genome AF: 0.138 AC: 20992AN: 152126Hom.: 1582 Cov.: 31 AF XY: 0.132 AC XY: 9824AN XY: 74368
ClinVar
Submissions by phenotype
Susceptibility to severe coronavirus disease (COVID-19) Uncertain:1
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Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR4 Uncertain:1
Differences in plasma levels of TNFR2 according to genotypes -
Malaria, cerebral, susceptibility to Other:1
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Systemic lupus erythematosus, susceptibility to Other:1
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Inherited susceptibility to asthma Other:1
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etanercept response - Efficacy Other:1
PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications. Drug-variant association: Efficacy
Psoriatic arthritis, susceptibility to Other:1
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MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO Other:1
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SEPTIC SHOCK, SUSCEPTIBILITY TO Other:1
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HUMAN IMMUNODEFICIENCY VIRUS DEMENTIA, SUSCEPTIBILITY TO Other:1
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Endometriosis Other:1
Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at