5-122450664-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005460.4(SNCAIP):c.1817G>A(p.Arg606Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000592 in 1,614,056 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005460.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000401 AC: 61AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000479 AC: 120AN: 250726Hom.: 0 AF XY: 0.000501 AC XY: 68AN XY: 135790
GnomAD4 exome AF: 0.000612 AC: 894AN: 1461820Hom.: 1 Cov.: 33 AF XY: 0.000637 AC XY: 463AN XY: 727222
GnomAD4 genome AF: 0.000401 AC: 61AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.000336 AC XY: 25AN XY: 74444
ClinVar
Submissions by phenotype
Parkinson Disease, Dominant/Recessive Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Apr 28, 2017 | 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