NM_001122630.2:c.597_602dupCGCCCC
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM1BP6
The NM_001122630.2(CDKN1C):c.597_602dupCGCCCC(p.Pro201_Ala202insAlaPro) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000648 in 1,080,364 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. P201P) has been classified as Likely benign.
Frequency
Consequence
NM_001122630.2 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
Publications
- Beckwith-Wiedemann syndromeInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P, Ambry Genetics
- IMAGe syndromeInheritance: AD Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, Illumina, G2P, Ambry Genetics
- rhabdomyosarcomaInheritance: AD Classification: MODERATE Submitted by: Genomics England PanelApp
- Beckwith-Wiedemann syndrome due to CDKN1C mutationInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- intrauterine growth restriction-short stature-early adult-onset diabetes syndromeInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- Silver-Russell syndromeInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000214 AC: 3AN: 140436Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome AF: 0.00000426 AC: 4AN: 939928Hom.: 0 Cov.: 18 AF XY: 0.00 AC XY: 0AN XY: 444540 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000214 AC: 3AN: 140436Hom.: 0 Cov.: 33 AF XY: 0.0000292 AC XY: 2AN XY: 68386 show subpopulations
ClinVar
Submissions by phenotype
Beckwith-Wiedemann syndrome;C1846009:IMAGe syndrome Uncertain:1
- -
Beckwith-Wiedemann syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at