chr7-31696988-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_006658.5(PPP1R17):āc.259A>Gā(p.Lys87Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000936 in 1,613,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006658.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP1R17 | NM_006658.5 | c.259A>G | p.Lys87Glu | missense_variant | 4/5 | ENST00000342032.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R17 | ENST00000342032.8 | c.259A>G | p.Lys87Glu | missense_variant | 4/5 | 1 | NM_006658.5 | P1 | |
PPP1R17 | ENST00000409146.3 | c.106A>G | p.Lys36Glu | missense_variant | 3/4 | 2 | |||
PPP1R17 | ENST00000498609.1 | n.140A>G | non_coding_transcript_exon_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 251056Hom.: 0 AF XY: 0.0000884 AC XY: 12AN XY: 135696
GnomAD4 exome AF: 0.0000917 AC: 134AN: 1461802Hom.: 0 Cov.: 30 AF XY: 0.0000963 AC XY: 70AN XY: 727196
GnomAD4 genome AF: 0.000112 AC: 17AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at