14-58346423-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002892.4(ARID4A):āc.992A>Gā(p.Asn331Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000311 in 1,605,230 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID4A | NM_002892.4 | c.992A>G | p.Asn331Ser | missense_variant | Exon 13 of 24 | ENST00000355431.8 | NP_002883.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152024Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1453206Hom.: 0 Cov.: 29 AF XY: 0.00000277 AC XY: 2AN XY: 723244
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152024Hom.: 0 Cov.: 29 AF XY: 0.0000269 AC XY: 2AN XY: 74274
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.992A>G (p.N331S) 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 992, causing the asparagine (N) at amino acid position 331 to be replaced by a serine (S). 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