chr9-69013644-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002732.4(PRKACG):āc.449A>Gā(p.Gln150Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,613,786 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q150L) has been classified as Uncertain significance.
Frequency
Consequence
NM_002732.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKACG | NM_002732.4 | c.449A>G | p.Gln150Arg | missense_variant | 1/1 | ENST00000377276.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKACG | ENST00000377276.5 | c.449A>G | p.Gln150Arg | missense_variant | 1/1 | NM_002732.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152032Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251014Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135712
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461754Hom.: 0 Cov.: 33 AF XY: 0.0000234 AC XY: 17AN XY: 727184
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152032Hom.: 0 Cov.: 31 AF XY: 0.0000674 AC XY: 5AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2022 | The c.449A>G (p.Q150R) alteration is located in exon 1 (coding exon 1) of the PRKACG gene. This alteration results from a A to G substitution at nucleotide position 449, causing the glutamine (Q) at amino acid position 150 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Mar 07, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at