chr10-51804667-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_006258.4(PRKG1):āc.675C>Gā(p.Thr225=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000697 in 1,434,720 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. T225T) has been classified as Benign.
Frequency
Consequence
NM_006258.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKG1 | NM_006258.4 | c.675C>G | p.Thr225= | synonymous_variant | 4/18 | ENST00000373980.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKG1 | ENST00000373980.11 | c.675C>G | p.Thr225= | synonymous_variant | 4/18 | 1 | NM_006258.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.97e-7 AC: 1AN: 1434720Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 715134
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Aortic aneurysm, familial thoracic 8 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Apr 05, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.