9-109780523-A-G
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_007203.5(PALM2AKAP2):c.35A>G(p.Gln12Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00034 in 1,613,546 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_007203.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PALM2AKAP2 | ENST00000374530.8 | c.35A>G | p.Gln12Arg | missense_variant | Exon 1 of 11 | 2 | NM_007203.5 | ENSP00000363654.3 |
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152226Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000207 AC: 52AN: 251448 AF XY: 0.000184 show subpopulations
GnomAD4 exome AF: 0.000352 AC: 514AN: 1461320Hom.: 0 Cov.: 31 AF XY: 0.000334 AC XY: 243AN XY: 726964 show subpopulations
GnomAD4 genome AF: 0.000230 AC: 35AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74356 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.35A>G (p.Q12R) alteration is located in exon 1 (coding exon 1) of the PALM2-AKAP2 gene. This alteration results from a A to G substitution at nucleotide position 35, causing the glutamine (Q) at amino acid position 12 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