15-74591623-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_006465.4(ARID3B):c.1229C>G(p.Ala410Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★).
Frequency
Consequence
NM_006465.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID3B | NM_006465.4 | c.1229C>G | p.Ala410Gly | missense_variant | 7/9 | ENST00000346246.10 | |
ARID3B | NM_001307939.2 | c.1229C>G | p.Ala410Gly | missense_variant | 7/9 | ||
ARID3B | XR_007064418.1 | n.1306C>G | non_coding_transcript_exon_variant | 6/9 | |||
ARID3B | XR_007064419.1 | n.1306C>G | non_coding_transcript_exon_variant | 6/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID3B | ENST00000346246.10 | c.1229C>G | p.Ala410Gly | missense_variant | 7/9 | 1 | NM_006465.4 | P4 | |
ARID3B | ENST00000622429.1 | c.1229C>G | p.Ala410Gly | missense_variant | 7/9 | 1 | A2 | ||
ARID3B | ENST00000566468.1 | n.437C>G | non_coding_transcript_exon_variant | 1/2 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.