1-20633595-C-T
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4BP6
The NM_032409.3(PINK1):c.47C>T(p.Ala16Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000369 in 1,248,072 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 Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_032409.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000139 AC: 21AN: 151270Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.0000228 AC: 25AN: 1096802Hom.: 0 Cov.: 30 AF XY: 0.0000134 AC XY: 7AN XY: 521308 show subpopulations
GnomAD4 genome AF: 0.000139 AC: 21AN: 151270Hom.: 0 Cov.: 32 AF XY: 0.000149 AC XY: 11AN XY: 73890 show subpopulations
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.47C>T (p.A16V) alteration is located in exon 1 (coding exon 1) of the PINK1 gene. This alteration results from a C to T substitution at nucleotide position 47, causing the alanine (A) at amino acid position 16 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Autosomal recessive early-onset Parkinson disease 6 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at