rs71653621
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_007262.5(PARK7):āc.501A>Gā(p.Ala167Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00103 in 1,614,160 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_007262.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PARK7 | NM_007262.5 | c.501A>G | p.Ala167Ala | synonymous_variant | Exon 7 of 7 | ENST00000338639.10 | NP_009193.2 | |
PARK7 | NM_001123377.2 | c.501A>G | p.Ala167Ala | synonymous_variant | Exon 7 of 7 | NP_001116849.1 | ||
PARK7 | XM_005263424.4 | c.501A>G | p.Ala167Ala | synonymous_variant | Exon 7 of 7 | XP_005263481.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000914 AC: 139AN: 152154Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00126 AC: 317AN: 251478Hom.: 2 AF XY: 0.00121 AC XY: 165AN XY: 135910
GnomAD4 exome AF: 0.00105 AC: 1530AN: 1461888Hom.: 4 Cov.: 30 AF XY: 0.000972 AC XY: 707AN XY: 727248
GnomAD4 genome AF: 0.000913 AC: 139AN: 152272Hom.: 0 Cov.: 32 AF XY: 0.00120 AC XY: 89AN XY: 74438
ClinVar
Submissions by phenotype
Autosomal recessive early-onset Parkinson disease 7 Uncertain:1Benign:1
- -
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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. -
not provided Benign:1
PARK7: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at