3-122577768-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001113523.3(PARP15):c.101G>C(p.Gly34Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000889 in 1,551,546 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 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.101G>C | p.Gly34Ala | missense_variant | 1/12 | ENST00000464300.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP15 | ENST00000464300.7 | c.101G>C | p.Gly34Ala | missense_variant | 1/12 | 1 | NM_001113523.3 | P1 | |
PARP15 | ENST00000483793.5 | c.101G>C | p.Gly34Ala | missense_variant | 1/9 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000473 AC: 72AN: 152208Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.0000845 AC: 13AN: 153934Hom.: 0 AF XY: 0.0000734 AC XY: 6AN XY: 81730
GnomAD4 exome AF: 0.0000472 AC: 66AN: 1399338Hom.: 0 Cov.: 30 AF XY: 0.0000420 AC XY: 29AN XY: 690176
GnomAD4 genome ? AF: 0.000473 AC: 72AN: 152208Hom.: 1 Cov.: 32 AF XY: 0.000457 AC XY: 34AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 17, 2022 | The c.101G>C (p.G34A) alteration is located in exon 1 (coding exon 1) of the PARP15 gene. This alteration results from a G to C substitution at nucleotide position 101, causing the glycine (G) at amino acid position 34 to be replaced by an alanine (A). 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