rs4824747
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_033215.5(PPP1R3F):c.1004+1688G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0995 in 112,524 control chromosomes in the GnomAD database, including 517 homozygotes. There are 3,413 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_033215.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP1R3F | NM_033215.5 | c.1004+1688G>T | intron_variant | ENST00000055335.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R3F | ENST00000055335.11 | c.1004+1688G>T | intron_variant | 2 | NM_033215.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0994 AC: 11180AN: 112473Hom.: 513 Cov.: 24 AF XY: 0.0984 AC XY: 3409AN XY: 34627
GnomAD4 genome ? AF: 0.0995 AC: 11191AN: 112524Hom.: 517 Cov.: 24 AF XY: 0.0984 AC XY: 3413AN XY: 34688
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at