X-3656497-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005044.5(PRKX):c.336-1085T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.32 in 110,384 control chromosomes in the GnomAD database, including 4,439 homozygotes. There are 10,196 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005044.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKX | NM_005044.5 | c.336-1085T>C | intron_variant | Intron 2 of 8 | ENST00000262848.6 | NP_005035.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.319 AC: 35241AN: 110332Hom.: 4428 Cov.: 22 AF XY: 0.311 AC XY: 10164AN XY: 32672
GnomAD4 genome AF: 0.320 AC: 35288AN: 110384Hom.: 4439 Cov.: 22 AF XY: 0.311 AC XY: 10196AN XY: 32734
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at