rs528936858
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006015.6(ARID1A):c.5228C>A(p.Thr1743Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000705 in 1,418,684 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T1743M) has been classified as Likely benign.
Frequency
Consequence
NM_006015.6 missense
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.5228C>A | p.Thr1743Lys | missense_variant | 20/20 | ENST00000324856.13 | |
ARID1A | NM_139135.4 | c.4577C>A | p.Thr1526Lys | missense_variant | 20/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1A | ENST00000324856.13 | c.5228C>A | p.Thr1743Lys | missense_variant | 20/20 | 1 | NM_006015.6 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000450 AC: 1AN: 222288Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 119384
GnomAD4 exome AF: 7.05e-7 AC: 1AN: 1418684Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 700914
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at