8-93726443-T-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_145269.5(CIBAR1):āc.707T>Gā(p.Ile236Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000296 in 1,613,716 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_145269.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00171 AC: 260AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000414 AC: 103AN: 249038Hom.: 0 AF XY: 0.000281 AC XY: 38AN XY: 135126
GnomAD4 exome AF: 0.000148 AC: 217AN: 1461380Hom.: 0 Cov.: 31 AF XY: 0.000127 AC XY: 92AN XY: 726982
GnomAD4 genome AF: 0.00171 AC: 261AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.00170 AC XY: 127AN XY: 74490
ClinVar
Submissions by phenotype
CIBAR1-related disorder Benign:1
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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at