chr11-2883974-G-GC
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_001122630.2(CDKN1C):c.*5+24dupG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.329 in 1,553,768 control chromosomes in the GnomAD database, including 88,791 homozygotes. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001122630.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.304 AC: 46062AN: 151524Hom.: 7695 Cov.: 0
GnomAD3 exomes AF: 0.359 AC: 55898AN: 155866Hom.: 10919 AF XY: 0.362 AC XY: 30890AN XY: 85418
GnomAD4 exome AF: 0.332 AC: 465505AN: 1402128Hom.: 81100 Cov.: 32 AF XY: 0.334 AC XY: 231464AN XY: 692560
GnomAD4 genome AF: 0.304 AC: 46070AN: 151640Hom.: 7691 Cov.: 0 AF XY: 0.307 AC XY: 22715AN XY: 74106
ClinVar
Submissions by phenotype
CDKN1C-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Beckwith-Wiedemann syndrome Benign:1
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IMAGe syndrome Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at