rs185048610
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001386298.1(CIC):c.6037T>A(p.Ser2013Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000518 in 1,613,574 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001386298.1 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 |
---|---|---|---|---|---|---|---|
CIC | NM_001386298.1 | c.6037T>A | p.Ser2013Thr | missense_variant | 15/21 | ENST00000681038.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIC | ENST00000681038.1 | c.6037T>A | p.Ser2013Thr | missense_variant | 15/21 | NM_001386298.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000810 AC: 123AN: 151894Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00180 AC: 451AN: 251046Hom.: 2 AF XY: 0.00172 AC XY: 234AN XY: 135738
GnomAD4 exome AF: 0.000489 AC: 714AN: 1461562Hom.: 4 Cov.: 35 AF XY: 0.000466 AC XY: 339AN XY: 727108
GnomAD4 genome ? AF: 0.000803 AC: 122AN: 152012Hom.: 2 Cov.: 33 AF XY: 0.000821 AC XY: 61AN XY: 74336
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
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