12-12718324-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004064.5(CDKN1B):c.475+10C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000168 in 1,598,358 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 (★★).
Frequency
Consequence
NM_004064.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000874 AC: 133AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000149 AC: 35AN: 235398Hom.: 0 AF XY: 0.000109 AC XY: 14AN XY: 128526
GnomAD4 exome AF: 0.0000941 AC: 136AN: 1446022Hom.: 0 Cov.: 34 AF XY: 0.0000778 AC XY: 56AN XY: 719762
GnomAD4 genome AF: 0.000873 AC: 133AN: 152336Hom.: 0 Cov.: 32 AF XY: 0.000617 AC XY: 46AN XY: 74494
ClinVar
Submissions by phenotype
Multiple endocrine neoplasia type 4 Benign:1
- -
CDKN1B-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). -
Multiple endocrine neoplasia Benign:1
- -
Hereditary cancer-predisposing syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at