rs147576281
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002732.4(PRKACG):c.449A>T(p.Gln150Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000682 in 1,613,786 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q150R) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKACG | NM_002732.4 | c.449A>T | p.Gln150Leu | missense_variant | 1/1 | ENST00000377276.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKACG | ENST00000377276.5 | c.449A>T | p.Gln150Leu | missense_variant | 1/1 | NM_002732.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000368 AC: 56AN: 152032Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 251014Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135712
GnomAD4 exome AF: 0.0000369 AC: 54AN: 1461754Hom.: 0 Cov.: 33 AF XY: 0.0000344 AC XY: 25AN XY: 727184
GnomAD4 genome ? AF: 0.000368 AC: 56AN: 152032Hom.: 0 Cov.: 31 AF XY: 0.000323 AC XY: 24AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 13, 2024 | The c.449A>T (p.Q150L) alteration is located in exon 1 (coding exon 1) of the PRKACG gene. This alteration results from a A to T substitution at nucleotide position 449, causing the glutamine (Q) at amino acid position 150 to be replaced by a leucine (L). 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