chr1-26696494-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006015.6(ARID1A):c.91C>G(p.Gln31Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000918 in 1,089,362 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 (★).
Frequency
Consequence
NM_006015.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ARID1A | NM_006015.6 | c.91C>G | p.Gln31Glu | missense_variant | 1/20 | ENST00000324856.13 | |
ARID1A | NM_139135.4 | c.91C>G | p.Gln31Glu | missense_variant | 1/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ARID1A | ENST00000324856.13 | c.91C>G | p.Gln31Glu | missense_variant | 1/20 | 1 | NM_006015.6 | ||
ARID1A | ENST00000457599.6 | c.91C>G | p.Gln31Glu | missense_variant | 1/20 | 5 | |||
ARID1A | ENST00000430799.7 | c.-13+2877C>G | intron_variant | 5 | A2 | ||||
ARID1A | ENST00000637465.1 | c.-13+394C>G | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 9.18e-7 AC: 1AN: 1089362Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 519830
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.91C>G (p.Q31E) alteration is located in exon 1 (coding exon 1) of the ARID1A gene. This alteration results from a C to G substitution at nucleotide position 91, causing the glutamine (Q) at amino acid position 31 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at