11-2884866-CGGGGCCGGGGCCGGGGCCGGGGCT-CGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGGGGCCGGGGCT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_001122630.2(CDKN1C):c.567_590dupAGCCCCGGCCCCGGCCCCGGCCCC(p.Pro197_Ala198insAlaProAlaProAlaProAlaPro) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000075 in 133,262 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. P197P) has been classified as Likely benign.
Frequency
Consequence
NM_001122630.2 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000750 AC: 1AN: 133262Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 12
GnomAD4 genome AF: 0.00000750 AC: 1AN: 133262Hom.: 0 Cov.: 33 AF XY: 0.0000154 AC XY: 1AN XY: 64880
ClinVar
Submissions by phenotype
Beckwith-Wiedemann syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jul 17, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at