1-26773690-CGCAGCAGCAGCAGCA-CGCAGCAGCA
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_006015.6(ARID1A):c.3996_4001del(p.Gln1333_Gln1334del) variant causes a inframe deletion change. The variant allele was found at a frequency of 0.0000105 in 1,613,212 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P1326P) has been classified as Likely benign.
Frequency
Consequence
NM_006015.6 inframe_deletion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1A | NM_006015.6 | c.3996_4001del | p.Gln1333_Gln1334del | inframe_deletion | 16/20 | ENST00000324856.13 | |
ARID1A | NM_139135.4 | c.3996_4001del | p.Gln1333_Gln1334del | inframe_deletion | 16/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1A | ENST00000324856.13 | c.3996_4001del | p.Gln1333_Gln1334del | inframe_deletion | 16/20 | 1 | NM_006015.6 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151932Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461280Hom.: 0 AF XY: 0.0000124 AC XY: 9AN XY: 726914
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151932Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74212
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at