14-20346864-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001042618.2(PARP2):c.275C>G(p.Ala92Gly) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.0000113 in 1,599,042 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PARP2 | NM_001042618.2 | c.275C>G | p.Ala92Gly | missense_variant, splice_region_variant | Exon 4 of 16 | ENST00000429687.8 | NP_001036083.1 | |
PARP2 | NM_005484.4 | c.314C>G | p.Ala105Gly | missense_variant, splice_region_variant | Exon 4 of 16 | NP_005475.2 | ||
PARP2 | XM_005267247.4 | c.314C>G | p.Ala105Gly | missense_variant, splice_region_variant | Exon 4 of 15 | XP_005267304.1 | ||
PARP2 | XM_017020912.2 | c.275C>G | p.Ala92Gly | missense_variant, splice_region_variant | Exon 4 of 15 | XP_016876401.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151826Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 248356Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 134910
GnomAD4 exome AF: 0.0000104 AC: 15AN: 1447216Hom.: 0 Cov.: 28 AF XY: 0.0000111 AC XY: 8AN XY: 720998
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151826Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 74122
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.314C>G (p.A105G) alteration is located in exon 4 (coding exon 4) of the PARP2 gene. This alteration results from a C to G substitution at nucleotide position 314, causing the alanine (A) at amino acid position 105 to be replaced by a glycine (G). 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