2-74529646-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_181575.5(AUP1):c.-17C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000452 in 1,552,318 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 (★).
Frequency
Consequence
NM_181575.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000388 AC: 59AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000473 AC: 71AN: 150194Hom.: 0 AF XY: 0.000478 AC XY: 39AN XY: 81666
GnomAD4 exome AF: 0.000459 AC: 642AN: 1399964Hom.: 0 Cov.: 33 AF XY: 0.000460 AC XY: 318AN XY: 691506
GnomAD4 genome AF: 0.000387 AC: 59AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.000376 AC XY: 28AN XY: 74498
ClinVar
Submissions by phenotype
Parkinson disease 13, autosomal dominant, susceptibility to Uncertain: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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at