rs7805747
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_016203.4(PRKAG2):c.467-35078C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.259 in 152,088 control chromosomes in the GnomAD database, including 5,497 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_016203.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKAG2 | NM_016203.4 | c.467-35078C>T | intron_variant | Intron 3 of 15 | ENST00000287878.9 | NP_057287.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.259 AC: 39295AN: 151970Hom.: 5490 Cov.: 32
GnomAD4 genome AF: 0.259 AC: 39334AN: 152088Hom.: 5497 Cov.: 32 AF XY: 0.247 AC XY: 18394AN XY: 74330
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is associated with the following publications: (PMID: 30559760) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at