14-58301685-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002892.4(ARID4A):c.112G>A(p.Val38Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000109 in 1,611,588 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002892.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID4A | NM_002892.4 | c.112G>A | p.Val38Ile | missense_variant | Exon 3 of 24 | ENST00000355431.8 | NP_002883.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152170Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000151 AC: 38AN: 250856Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135614
GnomAD4 exome AF: 0.000108 AC: 158AN: 1459418Hom.: 0 Cov.: 29 AF XY: 0.000112 AC XY: 81AN XY: 726106
GnomAD4 genome AF: 0.000112 AC: 17AN: 152170Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.112G>A (p.V38I) alteration is located in exon 3 (coding exon 2) of the ARID4A gene. This alteration results from a G to A substitution at nucleotide position 112, causing the valine (V) at amino acid position 38 to be replaced by an isoleucine (I). 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