14-20354109-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001042618.2(PARP2):c.625G>C(p.Glu209Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000806 in 1,613,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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 | UniProt |
---|---|---|---|---|---|---|---|
PARP2 | NM_001042618.2 | c.625G>C | p.Glu209Gln | missense_variant | 8/16 | ENST00000429687.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP2 | ENST00000429687.8 | c.625G>C | p.Glu209Gln | missense_variant | 8/16 | 1 | NM_001042618.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000151 AC: 23AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000269 AC: 67AN: 249278Hom.: 0 AF XY: 0.000251 AC XY: 34AN XY: 135234
GnomAD4 exome AF: 0.0000732 AC: 107AN: 1460828Hom.: 0 Cov.: 29 AF XY: 0.0000702 AC XY: 51AN XY: 726770
GnomAD4 genome ? AF: 0.000151 AC: 23AN: 152280Hom.: 0 Cov.: 33 AF XY: 0.000201 AC XY: 15AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 16, 2023 | The c.664G>C (p.E222Q) alteration is located in exon 8 (coding exon 8) of the PARP2 gene. This alteration results from a G to C substitution at nucleotide position 664, causing the glutamic acid (E) at amino acid position 222 to be replaced by a glutamine (Q). 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