14-58346465-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002892.4(ARID4A):āc.1034A>Gā(p.Lys345Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000168 in 1,610,700 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002892.4 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID4A | NM_002892.4 | c.1034A>G | p.Lys345Arg | missense_variant | Exon 13 of 24 | ENST00000355431.8 | NP_002883.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152040Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249224Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134870
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1458660Hom.: 0 Cov.: 29 AF XY: 0.0000165 AC XY: 12AN XY: 725830
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152040Hom.: 0 Cov.: 29 AF XY: 0.0000135 AC XY: 1AN XY: 74272
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1034A>G (p.K345R) alteration is located in exon 13 (coding exon 12) of the ARID4A gene. This alteration results from a A to G substitution at nucleotide position 1034, causing the lysine (K) at amino acid position 345 to be replaced by an arginine (R). 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