2-74457364-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_031288.4(INO80B):c.571C>T(p.Pro191Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 1,608,586 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031288.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INO80B | ENST00000233331.12 | c.571C>T | p.Pro191Ser | missense_variant | Exon 5 of 5 | 1 | NM_031288.4 | ENSP00000233331.7 | ||
INO80B-WBP1 | ENST00000452361.5 | n.571C>T | non_coding_transcript_exon_variant | Exon 5 of 8 | 2 | ENSP00000388677.1 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000980 AC: 23AN: 234738Hom.: 1 AF XY: 0.0000779 AC XY: 10AN XY: 128298
GnomAD4 exome AF: 0.000109 AC: 159AN: 1456220Hom.: 1 Cov.: 32 AF XY: 0.000122 AC XY: 88AN XY: 723992
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.571C>T (p.P191S) alteration is located in exon 5 (coding exon 5) of the INO80B gene. This alteration results from a C to T substitution at nucleotide position 571, causing the proline (P) at amino acid position 191 to be replaced by a serine (S). 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