rs747790383
chr6-156778889-CGGAGGAGGAGGAGGA-Cchr6-156778889-CGGAGGAGGAGGAGGA-CGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAGGAGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAGGAGGAGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAGGAGGAGGAGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAGGAGGAGGAGGAGGAGGAchr6-156778889-CGGAGGAGGAGGAGGA-CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP3
The NM_001374828.1(ARID1B):c.1220_1234del(p.Gly407_Gly411del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000512 in 1,366,536 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000070 ( 0 hom., cov: 29)
Exomes 𝑓: 0.0000049 ( 0 hom. )
Consequence
ARID1B
NM_001374828.1 inframe_deletion
NM_001374828.1 inframe_deletion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.18
Genes affected
ARID1B (HGNC:18040): (AT-rich interaction domain 1B) This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -1 ACMG points.
BP3
?
Nonframeshift variant in repetitive region in NM_001374828.1
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.1220_1234del | p.Gly407_Gly411del | inframe_deletion | 1/20 | ENST00000636930.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.1220_1234del | p.Gly407_Gly411del | inframe_deletion | 1/20 | 2 | NM_001374828.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000699 AC: 1AN: 142982Hom.: 0 Cov.: 29
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GnomAD4 exome AF: 0.00000490 AC: 6AN: 1223554Hom.: 0 AF XY: 0.00000501 AC XY: 3AN XY: 599384
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at