rs3730386
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002732.4(PRKACG):āc.802C>Gā(p.His268Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.264 in 1,613,806 control chromosomes in the GnomAD database, including 58,138 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002732.4 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKACG | NM_002732.4 | c.802C>G | p.His268Asp | missense_variant | 1/1 | ENST00000377276.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKACG | ENST00000377276.5 | c.802C>G | p.His268Asp | missense_variant | 1/1 | NM_002732.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.282 AC: 42833AN: 151828Hom.: 6349 Cov.: 31
GnomAD3 exomes AF: 0.268 AC: 67386AN: 251366Hom.: 9776 AF XY: 0.277 AC XY: 37697AN XY: 135850
GnomAD4 exome AF: 0.262 AC: 382725AN: 1461860Hom.: 51784 Cov.: 37 AF XY: 0.267 AC XY: 194491AN XY: 727228
GnomAD4 genome ? AF: 0.282 AC: 42860AN: 151946Hom.: 6354 Cov.: 31 AF XY: 0.283 AC XY: 21028AN XY: 74264
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at