rs878853637
Variant summary
Our verdict is Benign. The variant received -9 ACMG points: 0P and 9B. BP6BS1BS2
The NM_001122630.2(CDKN1C):c.567_590delAGCCCCGGCCCCGGCCCCGGCCCC(p.Ala190_Pro197del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000803 in 793,628 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. P189P) has been classified as Benign.
Frequency
Consequence
NM_001122630.2 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000308 AC: 41AN: 133260Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.000903 AC: 596AN: 660368Hom.: 0 AF XY: 0.000888 AC XY: 276AN XY: 310650 show subpopulations
GnomAD4 genome AF: 0.000308 AC: 41AN: 133260Hom.: 0 Cov.: 32 AF XY: 0.000324 AC XY: 21AN XY: 64878 show subpopulations
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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CDKN1C: BS1 -
Beckwith-Wiedemann syndrome Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at