rs797045268
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3BS2
The NM_001374828.1(ARID1B):c.1312_1320delGGCGGCGGC(p.Gly438_Gly440del) variant causes a conservative inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,262,838 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001374828.1 conservative_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.1312_1320delGGCGGCGGC | p.Gly438_Gly440del | conservative_inframe_deletion | Exon 1 of 20 | ENST00000636930.2 | NP_001361757.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.1312_1320delGGCGGCGGC | p.Gly438_Gly440del | conservative_inframe_deletion | Exon 1 of 20 | 2 | NM_001374828.1 | ENSP00000490491.2 |
Frequencies
GnomAD3 genomes AF: 0.0000146 AC: 2AN: 137298Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.0000364 AC: 41AN: 1125434Hom.: 1 AF XY: 0.0000461 AC XY: 25AN XY: 541872
GnomAD4 genome AF: 0.0000146 AC: 2AN: 137404Hom.: 0 Cov.: 29 AF XY: 0.0000297 AC XY: 2AN XY: 67288
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant, c.1063_1071del, results in the deletion of 3 amino acid(s) of the ARID1B protein (p.Gly355_Gly357del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at