rs57561786
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001131016.2(CIZ1):c.1352C>T(p.Ala451Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000847 in 1,614,246 control chromosomes in the GnomAD database, including 24 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. A451A) has been classified as Likely benign.
Frequency
Consequence
NM_001131016.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIZ1 | NM_001131016.2 | c.1352C>T | p.Ala451Val | missense_variant | 8/17 | ENST00000372938.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIZ1 | ENST00000372938.10 | c.1352C>T | p.Ala451Val | missense_variant | 8/17 | 1 | NM_001131016.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000703 AC: 107AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00144 AC: 363AN: 251474Hom.: 4 AF XY: 0.00129 AC XY: 176AN XY: 135912
GnomAD4 exome AF: 0.000863 AC: 1261AN: 1461892Hom.: 24 Cov.: 34 AF XY: 0.000824 AC XY: 599AN XY: 727248
GnomAD4 genome ? AF: 0.000702 AC: 107AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.000832 AC XY: 62AN XY: 74508
ClinVar
Submissions by phenotype
Dystonic disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 06, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at