rs1276300860
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001374828.1(ARID1B):āc.1000T>Gā(p.Cys334Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000227 in 1,500,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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. C334R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001374828.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.1000T>G | p.Cys334Gly | missense_variant | 1/20 | ENST00000636930.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.1000T>G | p.Cys334Gly | missense_variant | 1/20 | 2 | NM_001374828.1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000136 AC: 2AN: 146718Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.0000236 AC: 32AN: 1354090Hom.: 0 Cov.: 37 AF XY: 0.0000194 AC XY: 13AN XY: 668630
GnomAD4 genome AF: 0.0000136 AC: 2AN: 146718Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 71594
ClinVar
Submissions by phenotype
Astrocytoma Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Laboratory of Molecular Neuropathology, The University of Texas Health Science Center at Houston | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at