rs1801334
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004562.3(PRKN):c.1180G>A(p.Asp394Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0341 in 1,613,134 control chromosomes in the GnomAD database, including 1,150 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_004562.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0250 AC: 3810AN: 152190Hom.: 64 Cov.: 32
GnomAD3 exomes AF: 0.0255 AC: 6405AN: 251482Hom.: 120 AF XY: 0.0255 AC XY: 3462AN XY: 135918
GnomAD4 exome AF: 0.0350 AC: 51172AN: 1460826Hom.: 1086 Cov.: 31 AF XY: 0.0341 AC XY: 24749AN XY: 726818
GnomAD4 genome AF: 0.0250 AC: 3807AN: 152308Hom.: 64 Cov.: 32 AF XY: 0.0247 AC XY: 1837AN XY: 74480
ClinVar
Submissions by phenotype
not specified Benign:4
- -
- -
- -
- -
Autosomal recessive juvenile Parkinson disease 2 Benign:2
- -
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Lung cancer;C0919267:Ovarian neoplasm;C1868675:Autosomal recessive juvenile Parkinson disease 2 Benign:1
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at