rs6603272
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002183.4(IL3RA):c.431+13G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,114 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. 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
NM_002183.4 intron
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 |
---|---|---|---|---|---|---|---|
IL3RA | NM_002183.4 | c.431+13G>A | intron_variant | ENST00000331035.10 | |||
LOC101928032 | XR_007068376.1 | n.1189+65C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL3RA | ENST00000331035.10 | c.431+13G>A | intron_variant | 1 | NM_002183.4 | P1 | |||
IL3RA | ENST00000381469.7 | c.197+13G>A | intron_variant | 5 | |||||
IL3RA | ENST00000432757.6 | c.197+13G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152096Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74260
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461018Hom.: 0 Cov.: 91 AF XY: 0.00 AC XY: 0AN XY: 726682
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152096Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74260
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at