6-156778283-GCAGCAGCAA-GCAGCAGCAACAGCAGCAA
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP3
The NM_001374828.1(ARID1B):c.612_620dupACAGCAGCA(p.Gln205_Gln207dup) variant causes a disruptive inframe insertion change. The variant allele was found at a frequency of 0.0000132 in 151,524 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001374828.1 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.612_620dupACAGCAGCA | p.Gln205_Gln207dup | disruptive_inframe_insertion | 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.612_620dupACAGCAGCA | p.Gln205_Gln207dup | disruptive_inframe_insertion | Exon 1 of 20 | 2 | NM_001374828.1 | ENSP00000490491.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151524Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000213 AC: 3AN: 140824Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 75438
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000374 AC: 52AN: 1389364Hom.: 0 Cov.: 37 AF XY: 0.0000350 AC XY: 24AN XY: 685404
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151524Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74000
ClinVar
Submissions by phenotype
not provided Uncertain:1
This variant, c.363_371dup, results in the insertion of 3 amino acid(s) of the ARID1B protein (p.Gln129_Gln131dup), 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 poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ARID1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 975339). 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. -
Intellectual disability Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at