rs3093906
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001042618.2(PARP2):āc.464A>Gā(p.Asn155Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000836 in 1,614,048 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001042618.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PARP2 | NM_001042618.2 | c.464A>G | p.Asn155Ser | missense_variant | 6/16 | ENST00000429687.8 | NP_001036083.1 | |
PARP2 | NM_005484.4 | c.503A>G | p.Asn168Ser | missense_variant | 6/16 | NP_005475.2 | ||
PARP2 | XM_005267247.4 | c.503A>G | p.Asn168Ser | missense_variant | 6/15 | XP_005267304.1 | ||
PARP2 | XM_017020912.2 | c.464A>G | p.Asn155Ser | missense_variant | 6/15 | XP_016876401.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PARP2 | ENST00000429687.8 | c.464A>G | p.Asn155Ser | missense_variant | 6/16 | 1 | NM_001042618.2 | ENSP00000392972.3 |
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 31AN: 249518Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135386
GnomAD4 exome AF: 0.0000684 AC: 100AN: 1461738Hom.: 0 Cov.: 30 AF XY: 0.0000866 AC XY: 63AN XY: 727184
GnomAD4 genome AF: 0.000230 AC: 35AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74492
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at