rs2069818
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000879.3(IL5):c.384C>T(p.Thr128=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000168 in 1,611,608 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. Synonymous variant affecting the same amino acid position (i.e. T128T) has been classified as Benign.
Frequency
Consequence
NM_000879.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL5 | NM_000879.3 | c.384C>T | p.Thr128= | synonymous_variant | 4/4 | ENST00000231454.6 | |
IL5 | XM_005271988.5 | c.450C>T | p.Thr150= | synonymous_variant | 5/5 | ||
IL5 | XM_011543373.4 | c.384C>T | p.Thr128= | synonymous_variant | 6/6 | ||
IL5 | XM_047417148.1 | c.282C>T | p.Thr94= | synonymous_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL5 | ENST00000231454.6 | c.384C>T | p.Thr128= | synonymous_variant | 4/4 | 1 | NM_000879.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 151904Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250990Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135638
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1459704Hom.: 0 Cov.: 29 AF XY: 0.0000193 AC XY: 14AN XY: 726300
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 151904Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74152
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at