rs1136410
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001618.4(PARP1):āc.2285T>Cā(p.Val762Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.168 in 1,613,852 control chromosomes in the GnomAD database, including 27,235 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001618.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PARP1 | NM_001618.4 | c.2285T>C | p.Val762Ala | missense_variant | 17/23 | ENST00000366794.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PARP1 | ENST00000366794.10 | c.2285T>C | p.Val762Ala | missense_variant | 17/23 | 1 | NM_001618.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.157 AC: 23915AN: 152050Hom.: 2589 Cov.: 32
GnomAD3 exomes AF: 0.213 AC: 53567AN: 251412Hom.: 7750 AF XY: 0.200 AC XY: 27205AN XY: 135878
GnomAD4 exome AF: 0.169 AC: 247339AN: 1461684Hom.: 24640 Cov.: 33 AF XY: 0.167 AC XY: 121143AN XY: 727168
GnomAD4 genome AF: 0.157 AC: 23938AN: 152168Hom.: 2595 Cov.: 32 AF XY: 0.163 AC XY: 12120AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 08, 2019 | This variant is associated with the following publications: (PMID: 24392019, 29484706, 23633189, 15342424, 23040216, 24853559, 24489833, 22624032, 23608917, 23073772, 18716896, 23910651, 19484672, 18054108, 21037106, 20196871, 17214964) - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at