rs1450163641
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_001374828.1(ARID1B):c.927C>A(p.Ala309=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000613 in 1,305,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A309A) has been classified as Likely benign.
Frequency
Consequence
NM_001374828.1 synonymous
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.927C>A | p.Ala309= | synonymous_variant | 1/20 | ENST00000636930.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.927C>A | p.Ala309= | synonymous_variant | 1/20 | 2 | NM_001374828.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000271 AC: 4AN: 147454Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000345 AC: 4AN: 1157774Hom.: 0 Cov.: 36 AF XY: 0.00000356 AC XY: 2AN XY: 561984
GnomAD4 genome ? AF: 0.0000271 AC: 4AN: 147454Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 71912
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at