6-78867644-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001010844.4(IRAK1BP1):c.68G>A(p.Arg23Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000843 in 1,614,218 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010844.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRAK1BP1 | NM_001010844.4 | c.68G>A | p.Arg23Gln | missense_variant | 1/4 | ENST00000369940.7 | NP_001010844.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IRAK1BP1 | ENST00000369940.7 | c.68G>A | p.Arg23Gln | missense_variant | 1/4 | 1 | NM_001010844.4 | ENSP00000358956 | P1 | |
IRAK1BP1 | ENST00000606868.5 | c.38G>A | p.Arg13Gln | missense_variant, NMD_transcript_variant | 1/5 | 1 | ENSP00000475570 |
Frequencies
GnomAD3 genomes AF: 0.000302 AC: 46AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251336Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135886
GnomAD4 exome AF: 0.0000616 AC: 90AN: 1461868Hom.: 0 Cov.: 30 AF XY: 0.0000591 AC XY: 43AN XY: 727234
GnomAD4 genome AF: 0.000302 AC: 46AN: 152350Hom.: 0 Cov.: 32 AF XY: 0.000389 AC XY: 29AN XY: 74502
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.68G>A (p.R23Q) alteration is located in exon 1 (coding exon 1) of the IRAK1BP1 gene. This alteration results from a G to A substitution at nucleotide position 68, causing the arginine (R) at amino acid position 23 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at