NM_001122630.2:c.585_596dupGGCCCCGGCCCC
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 4P and 6B. PM1PM2BP6_ModerateBS2
The NM_001122630.2(CDKN1C):c.585_596dupGGCCCCGGCCCC(p.Pro199_Ala200insAlaProAlaPro) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000349 in 143,230 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. P199P) has been classified as Likely benign.
Frequency
Consequence
NM_001122630.2 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000349 AC: 5AN: 143230Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000341 AC: 3AN: 879570Hom.: 0 Cov.: 12 AF XY: 0.00000722 AC XY: 3AN XY: 415602
GnomAD4 genome AF: 0.0000349 AC: 5AN: 143230Hom.: 0 Cov.: 32 AF XY: 0.0000143 AC XY: 1AN XY: 69764
ClinVar
Submissions by phenotype
Beckwith-Wiedemann syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at