rs3852522
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_001122630.2(CDKN1C):āc.39A>Gā(p.Leu13=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00019 in 1,552,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. L13L) has been classified as Likely benign.
Frequency
Consequence
NM_001122630.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDKN1C | NM_001122630.2 | c.39A>G | p.Leu13= | synonymous_variant | 2/4 | ENST00000440480.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDKN1C | ENST00000440480.8 | c.39A>G | p.Leu13= | synonymous_variant | 2/4 | 1 | NM_001122630.2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000894 AC: 136AN: 152102Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000252 AC: 39AN: 154944Hom.: 0 AF XY: 0.000180 AC XY: 15AN XY: 83364
GnomAD4 exome AF: 0.000112 AC: 157AN: 1399806Hom.: 0 Cov.: 31 AF XY: 0.0000983 AC XY: 68AN XY: 691530
GnomAD4 genome ? AF: 0.000907 AC: 138AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.000860 AC XY: 64AN XY: 74434
ClinVar
Submissions by phenotype
Beckwith-Wiedemann syndrome Uncertain:1Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 27, 2024 | - - |
Uncertain significance, criteria provided, single submitter | curation | Sema4, Sema4 | Feb 07, 2022 | - - |
not specified Benign:1
Likely benign, no assertion criteria provided | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at