15-74543985-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_ModerateBS2
The NM_006465.4(ARID3B):āc.49C>Gā(p.Gln17Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,611,836 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q17H) has been classified as Uncertain significance.
Frequency
Consequence
NM_006465.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID3B | NM_006465.4 | c.49C>G | p.Gln17Glu | missense_variant | 2/9 | ENST00000346246.10 | |
ARID3B | NM_001307939.2 | c.49C>G | p.Gln17Glu | missense_variant | 2/9 | ||
ARID3B | XR_007064418.1 | n.126C>G | non_coding_transcript_exon_variant | 1/9 | |||
ARID3B | XR_007064419.1 | n.126C>G | non_coding_transcript_exon_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID3B | ENST00000346246.10 | c.49C>G | p.Gln17Glu | missense_variant | 2/9 | 1 | NM_006465.4 | P4 | |
ARID3B | ENST00000622429.1 | c.49C>G | p.Gln17Glu | missense_variant | 2/9 | 1 | A2 | ||
ARID3B | ENST00000569680.1 | n.193C>G | non_coding_transcript_exon_variant | 2/4 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000206 AC: 5AN: 243082Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131920
GnomAD4 exome AF: 0.00000891 AC: 13AN: 1459644Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726080
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at