6-137871624-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001270508.2(TNFAIP3):c.295+102A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.105 in 1,321,254 control chromosomes in the GnomAD database, including 12,542 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001270508.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.192 AC: 29149AN: 152032Hom.: 5022 Cov.: 32
GnomAD4 exome AF: 0.0938 AC: 109687AN: 1169104Hom.: 7499 AF XY: 0.0935 AC XY: 54477AN XY: 582746
GnomAD4 genome AF: 0.192 AC: 29221AN: 152150Hom.: 5043 Cov.: 32 AF XY: 0.186 AC XY: 13850AN XY: 74408
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at