chr2-74457470-A-G
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_031288.4(INO80B):c.677A>G(p.Gln226Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000128 in 1,558,506 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q226L) has been classified as Uncertain significance.
Frequency
Consequence
NM_031288.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INO80B | ENST00000233331.12 | c.677A>G | p.Gln226Arg | missense_variant | Exon 5 of 5 | 1 | NM_031288.4 | ENSP00000233331.7 | ||
INO80B-WBP1 | ENST00000452361.5 | n.677A>G | non_coding_transcript_exon_variant | Exon 5 of 8 | 2 | ENSP00000388677.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1406318Hom.: 0 Cov.: 32 AF XY: 0.00000144 AC XY: 1AN XY: 694902 show subpopulations
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74342 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at