1-20633709-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032409.3(PINK1):c.161C>A(p.Ala54Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 1,519,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032409.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PINK1 | NM_032409.3 | c.161C>A | p.Ala54Glu | missense_variant | 1/8 | ENST00000321556.5 | |
MIR6084 | NR_106732.1 | n.31C>A | non_coding_transcript_exon_variant | 1/1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PINK1 | ENST00000321556.5 | c.161C>A | p.Ala54Glu | missense_variant | 1/8 | 1 | NM_032409.3 | P1 | |
MIR6084 | ENST00000622012.1 | n.31C>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151818Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000658 AC: 9AN: 1367200Hom.: 0 Cov.: 31 AF XY: 0.00000890 AC XY: 6AN XY: 674112
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151818Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74144
ClinVar
Submissions by phenotype
Autosomal recessive early-onset Parkinson disease 6 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Nov 04, 2019 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at