rs202135824
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001386298.1(CIC):āc.4832A>Gā(p.Asn1611Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000218 in 1,612,806 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N1611D) has been classified as Likely benign.
Frequency
Consequence
NM_001386298.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIC | NM_001386298.1 | c.4832A>G | p.Asn1611Ser | missense_variant | 11/21 | ENST00000681038.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIC | ENST00000681038.1 | c.4832A>G | p.Asn1611Ser | missense_variant | 11/21 | NM_001386298.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 151978Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000178 AC: 44AN: 246848Hom.: 0 AF XY: 0.000171 AC XY: 23AN XY: 134218
GnomAD4 exome AF: 0.000229 AC: 335AN: 1460710Hom.: 4 Cov.: 33 AF XY: 0.000224 AC XY: 163AN XY: 726662
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152096Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74348
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Mar 29, 2018 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2023 | CIC: BP4, BS1 - |
CIC-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Dec 09, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not specified Other:1
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at