chr5-122450708-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_005460.4(SNCAIP):c.1861C>T(p.Arg621Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00441 in 1,614,158 control chromosomes in the GnomAD database, including 22 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_005460.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00298 AC: 454AN: 152186Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00334 AC: 838AN: 251172Hom.: 2 AF XY: 0.00350 AC XY: 475AN XY: 135848
GnomAD4 exome AF: 0.00456 AC: 6664AN: 1461854Hom.: 20 Cov.: 33 AF XY: 0.00449 AC XY: 3266AN XY: 727232
GnomAD4 genome AF: 0.00298 AC: 454AN: 152304Hom.: 2 Cov.: 32 AF XY: 0.00282 AC XY: 210AN XY: 74468
ClinVar
Submissions by phenotype
not provided Benign:3
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MGC32805: BS2; SNCAIP: BS2 -
Parkinson disease, late-onset Uncertain:1
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Parkinson Disease, Dominant/Recessive Benign: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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at