rs374564889
- chr1-26773690-CGCAGCAGCAGCAGCA-C
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCA
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCAGCA
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCAGCAGCA
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCAGCAGCAGCA
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCAGCAGCAGCAGCAGCA
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCAGCAGCAGCAGCAGCAGCA
- chr1-26773690-CGCAGCAGCAGCAGCA-CGCAGCAGCAGCAGCAGCAGCAGCA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006015.6(ARID1A):c.3987_4001del(p.Gln1330_Gln1334del) variant causes a inframe deletion change. The variant allele was found at a frequency of 0.000000684 in 1,461,286 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1A | NM_006015.6 | c.3987_4001del | p.Gln1330_Gln1334del | inframe_deletion | 16/20 | ENST00000324856.13 | |
ARID1A | NM_139135.4 | c.3987_4001del | p.Gln1330_Gln1334del | inframe_deletion | 16/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1A | ENST00000324856.13 | c.3987_4001del | p.Gln1330_Gln1334del | inframe_deletion | 16/20 | 1 | NM_006015.6 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461286Hom.: 0 AF XY: 0.00000138 AC XY: 1AN XY: 726918
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at