10-52288853-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006258.4(PRKG1):c.1832+5G>C variant causes a splice donor 5th base, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006258.4 splice_donor_5th_base, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKG1 | NM_006258.4 | c.1832+5G>C | splice_donor_5th_base_variant, intron_variant | ENST00000373980.11 | NP_006249.1 | |||
PRKG1 | NM_001098512.3 | c.1787+5G>C | splice_donor_5th_base_variant, intron_variant | NP_001091982.1 | ||||
PRKG1 | NM_001374781.1 | c.623+5G>C | splice_donor_5th_base_variant, intron_variant | NP_001361710.1 | ||||
PRKG1 | XM_017016413.2 | c.1529+5G>C | splice_donor_5th_base_variant, intron_variant | XP_016871902.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRKG1 | ENST00000373980.11 | c.1832+5G>C | splice_donor_5th_base_variant, intron_variant | 1 | NM_006258.4 | ENSP00000363092 | ||||
PRKG1-AS1 | ENST00000452247.7 | n.461+5062C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.