11-126293717-T-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001318777.2(TIRAP):c.*30T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.217 in 1,612,412 control chromosomes in the GnomAD database, including 41,239 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001318777.2 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TIRAP | NM_001318777.2 | c.*30T>G | 3_prime_UTR_variant | Exon 5 of 5 | ENST00000392679.6 | NP_001305706.1 | ||
TIRAP | NM_001039661.2 | c.*30T>G | 3_prime_UTR_variant | Exon 6 of 6 | NP_001034750.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26524AN: 151966Hom.: 2700 Cov.: 32
GnomAD3 exomes AF: 0.175 AC: 44010AN: 251374Hom.: 4618 AF XY: 0.180 AC XY: 24494AN XY: 135860
GnomAD4 exome AF: 0.222 AC: 323489AN: 1460328Hom.: 38537 Cov.: 32 AF XY: 0.221 AC XY: 160384AN XY: 726550
GnomAD4 genome AF: 0.174 AC: 26534AN: 152084Hom.: 2702 Cov.: 32 AF XY: 0.168 AC XY: 12497AN XY: 74328
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 23% of patients studied by a panel of primary immunodeficiencies. Number of patients: 20. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at