rs755976776
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP3BP6_ModerateBS2
The NM_001374828.1(ARID1B):c.1206_1223del(p.Ser403_Gly408del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000646 in 1,392,532 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G397G) has been classified as Likely benign.
Frequency
Consequence
NM_001374828.1 inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.1206_1223del | p.Ser403_Gly408del | inframe_deletion | 1/20 | ENST00000636930.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.1206_1223del | p.Ser403_Gly408del | inframe_deletion | 1/20 | 2 | NM_001374828.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000335 AC: 5AN: 149076Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.0000684 AC: 85AN: 1243456Hom.: 0 AF XY: 0.0000736 AC XY: 45AN XY: 611164
GnomAD4 genome ? AF: 0.0000335 AC: 5AN: 149076Hom.: 0 Cov.: 29 AF XY: 0.0000412 AC XY: 3AN XY: 72766
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 28, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at