chr3-122621463-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001113523.3(PARP15):c.1083T>G(p.Asp361Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,611,956 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_001113523.3 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 |
---|---|---|---|---|---|---|---|
PARP15 | NM_001113523.3 | c.1083T>G | p.Asp361Glu | missense_variant | 8/12 | ENST00000464300.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP15 | ENST00000464300.7 | c.1083T>G | p.Asp361Glu | missense_variant | 8/12 | 1 | NM_001113523.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000217 AC: 33AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000846 AC: 21AN: 248316Hom.: 0 AF XY: 0.0000745 AC XY: 10AN XY: 134178
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1459678Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 726096
GnomAD4 genome ? AF: 0.000223 AC: 34AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.1083T>G (p.D361E) alteration is located in exon 8 (coding exon 8) of the PARP15 gene. This alteration results from a T to G substitution at nucleotide position 1083, causing the aspartic acid (D) at amino acid position 361 to be replaced by a glutamic acid (E). 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