14-20351068-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001042618.2(PARP2):c.443G>A(p.Ser148Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00218 in 1,614,066 control chromosomes in the GnomAD database, including 61 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001042618.2 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 |
---|---|---|---|---|---|---|---|
PARP2 | NM_001042618.2 | c.443G>A | p.Ser148Asn | missense_variant | 6/16 | ENST00000429687.8 | |
PARP2 | NM_005484.4 | c.482G>A | p.Ser161Asn | missense_variant | 6/16 | ||
PARP2 | XM_005267247.4 | c.482G>A | p.Ser161Asn | missense_variant | 6/15 | ||
PARP2 | XM_017020912.2 | c.443G>A | p.Ser148Asn | missense_variant | 6/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP2 | ENST00000429687.8 | c.443G>A | p.Ser148Asn | missense_variant | 6/16 | 1 | NM_001042618.2 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0120 AC: 1823AN: 152196Hom.: 31 Cov.: 32
GnomAD3 exomes AF: 0.00301 AC: 751AN: 249502Hom.: 14 AF XY: 0.00224 AC XY: 303AN XY: 135374
GnomAD4 exome AF: 0.00115 AC: 1687AN: 1461752Hom.: 29 Cov.: 30 AF XY: 0.000954 AC XY: 694AN XY: 727186
GnomAD4 genome AF: 0.0120 AC: 1826AN: 152314Hom.: 32 Cov.: 32 AF XY: 0.0116 AC XY: 866AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Nov 20, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at