rs1051504
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005224.3(ARID3A):āc.1650A>Cā(p.Gly550=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000253 in 1,583,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005224.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID3A | NM_005224.3 | c.1650A>C | p.Gly550= | synonymous_variant | 9/9 | ENST00000263620.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID3A | ENST00000263620.8 | c.1650A>C | p.Gly550= | synonymous_variant | 9/9 | 1 | NM_005224.3 | P1 | |
ARID3A | ENST00000587532.5 | c.894A>C | p.Gly298= | synonymous_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151422Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000210 AC: 3AN: 1431874Hom.: 0 Cov.: 51 AF XY: 0.00000421 AC XY: 3AN XY: 712340
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151422Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 73882
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at