6-156777954-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001374828.1(ARID1B):c.274G>A(p.Ala92Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000199 in 1,529,186 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A92G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001374828.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1B | NM_001374828.1 | c.274G>A | p.Ala92Thr | missense_variant | 1/20 | ENST00000636930.2 | |
LOC115308161 | NR_163974.1 | n.273+292C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1B | ENST00000636930.2 | c.274G>A | p.Ala92Thr | missense_variant | 1/20 | 2 | NM_001374828.1 | A2 | |
ENST00000603191.2 | n.177+292C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000503 AC: 76AN: 151044Hom.: 2 Cov.: 31
GnomAD3 exomes AF: 0.000239 AC: 30AN: 125722Hom.: 0 AF XY: 0.000261 AC XY: 18AN XY: 68880
GnomAD4 exome AF: 0.000165 AC: 228AN: 1378036Hom.: 0 Cov.: 34 AF XY: 0.000160 AC XY: 109AN XY: 679838
GnomAD4 genome ? AF: 0.000503 AC: 76AN: 151150Hom.: 2 Cov.: 31 AF XY: 0.000826 AC XY: 61AN XY: 73854
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 16, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at