chr1-204409647-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_032833.5(PPP1R15B):āc.1765A>Gā(p.Lys589Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0212 in 1,613,680 control chromosomes in the GnomAD database, including 467 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 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_032833.5 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 |
---|---|---|---|---|---|---|---|
PPP1R15B | NM_032833.5 | c.1765A>G | p.Lys589Glu | missense_variant | 1/2 | ENST00000367188.5 | |
PPP1R15B | XM_005245551.6 | c.1765A>G | p.Lys589Glu | missense_variant | 1/3 | ||
PPP1R15B | XM_047432518.1 | c.1765A>G | p.Lys589Glu | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R15B | ENST00000367188.5 | c.1765A>G | p.Lys589Glu | missense_variant | 1/2 | 1 | NM_032833.5 | P1 | |
PPP1R15B-AS1 | ENST00000443515.1 | n.147-25690T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0153 AC: 2334AN: 152094Hom.: 20 Cov.: 32
GnomAD3 exomes AF: 0.0192 AC: 4839AN: 251472Hom.: 84 AF XY: 0.0214 AC XY: 2908AN XY: 135914
GnomAD4 exome AF: 0.0219 AC: 31938AN: 1461468Hom.: 447 Cov.: 32 AF XY: 0.0228 AC XY: 16595AN XY: 727054
GnomAD4 genome AF: 0.0153 AC: 2333AN: 152212Hom.: 20 Cov.: 32 AF XY: 0.0154 AC XY: 1146AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at