6-157084796-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001374828.1(ARID1B):c.2382G>A(p.Ala794Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.518 in 1,613,790 control chromosomes in the GnomAD database, including 219,781 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001374828.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.2382G>A | p.Ala794Ala | synonymous_variant | Exon 5 of 20 | ENST00000636930.2 | NP_001361757.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.2382G>A | p.Ala794Ala | synonymous_variant | Exon 5 of 20 | 2 | NM_001374828.1 | ENSP00000490491.2 |
Frequencies
GnomAD3 genomes AF: 0.473 AC: 71824AN: 151786Hom.: 17738 Cov.: 31
GnomAD3 exomes AF: 0.523 AC: 131459AN: 251256Hom.: 35194 AF XY: 0.527 AC XY: 71548AN XY: 135798
GnomAD4 exome AF: 0.523 AC: 764659AN: 1461886Hom.: 202040 Cov.: 80 AF XY: 0.525 AC XY: 381655AN XY: 727244
GnomAD4 genome AF: 0.473 AC: 71858AN: 151904Hom.: 17741 Cov.: 31 AF XY: 0.472 AC XY: 35011AN XY: 74246
ClinVar
Submissions by phenotype
not specified Benign:3
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not provided Benign:2
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Coffin-Siris syndrome 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at