14-58328274-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002892.4(ARID4A):āc.620A>Gā(p.Lys207Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00024 in 1,604,690 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARID4A | NM_002892.4 | c.620A>G | p.Lys207Arg | missense_variant | Exon 9 of 24 | ENST00000355431.8 | NP_002883.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000302 AC: 46AN: 152174Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000299 AC: 75AN: 250728Hom.: 0 AF XY: 0.000266 AC XY: 36AN XY: 135552
GnomAD4 exome AF: 0.000233 AC: 339AN: 1452516Hom.: 0 Cov.: 28 AF XY: 0.000236 AC XY: 171AN XY: 723182
GnomAD4 genome AF: 0.000302 AC: 46AN: 152174Hom.: 1 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.620A>G (p.K207R) alteration is located in exon 9 (coding exon 8) of the ARID4A gene. This alteration results from a A to G substitution at nucleotide position 620, causing the lysine (K) at amino acid position 207 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