chr1-7961859-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_007262.5(PARK7):c.-24+66C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 113,538 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_007262.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PARK7 | NM_007262.5 | c.-24+66C>G | intron_variant | Intron 1 of 6 | ENST00000338639.10 | NP_009193.2 | ||
PARK7 | XM_005263424.4 | c.-246C>G | 5_prime_UTR_variant | Exon 1 of 7 | XP_005263481.1 | |||
PARK7 | NM_001123377.2 | c.-24+124C>G | intron_variant | Intron 1 of 6 | NP_001116849.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000106 AC: 12AN: 113410Hom.: 0 Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 330Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 220
GnomAD4 genome AF: 0.000106 AC: 12AN: 113538Hom.: 0 Cov.: 30 AF XY: 0.0000725 AC XY: 4AN XY: 55188
ClinVar
Submissions by phenotype
PARK7-related disorder Uncertain:1
The PARK7 c.-24+66C>G variant is located in the 5' untranslated region. This variant, also referred to as DJ-1 g.159C>G in the literature, has been reported in an individual with early onset Parkinson disease and was shown to segregate with disease in the family (Tarantino et al. 2009. PubMed ID: 18722801). This variant is reported in 0.0065% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at