5-132657117-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000435042.1(TH2LCRR):n.94+7062G>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,002 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000435042.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL13 | NM_001354992.2 | c.-220C>G | 5_prime_UTR_variant | 2/6 | |||
IL13 | NM_001354993.2 | c.-149C>G | 5_prime_UTR_variant | 2/5 | |||
IL13 | NM_001354991.2 | c.-93+487C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TH2LCRR | ENST00000435042.1 | n.94+7062G>C | intron_variant, non_coding_transcript_variant | 5 | |||||
IL13 | ENST00000468334.5 | n.420C>G | non_coding_transcript_exon_variant | 2/5 | 3 | ||||
IL13 | ENST00000487267.5 | n.147C>G | non_coding_transcript_exon_variant | 2/6 | 3 | ||||
IL13 | ENST00000459878.5 | n.107+487C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152002Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 0
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152002Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74234
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at