14-20356030-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001042618.2(PARP2):āc.1100A>Gā(p.Lys367Arg) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000291 in 1,613,222 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001042618.2 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PARP2 | NM_001042618.2 | c.1100A>G | p.Lys367Arg | missense_variant, splice_region_variant | 11/16 | ENST00000429687.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP2 | ENST00000429687.8 | c.1100A>G | p.Lys367Arg | missense_variant, splice_region_variant | 11/16 | 1 | NM_001042618.2 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248746Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134952
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461002Hom.: 0 Cov.: 33 AF XY: 0.0000261 AC XY: 19AN XY: 726798
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 22, 2023 | The c.1139A>G (p.K380R) alteration is located in exon 11 (coding exon 11) of the PARP2 gene. This alteration results from a A to G substitution at nucleotide position 1139, causing the lysine (K) at amino acid position 380 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at