15-78111171-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_ModerateBP6BP7BS1
The NM_006383.4(CIB2):c.192G>A(p.Glu64Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00011 in 1,613,958 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_006383.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000143 AC: 36AN: 251356Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135850
GnomAD4 exome AF: 0.000110 AC: 161AN: 1461652Hom.: 1 Cov.: 31 AF XY: 0.000129 AC XY: 94AN XY: 727120
GnomAD4 genome AF: 0.000112 AC: 17AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74474
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
- -
- -
- -
not specified Benign:2
The p.Glu64Glu variant in CIB2 is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. ACMG/AMP Criteria applied: BP4, BP7. -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at