chr11-2885034-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_001122630.2(CDKN1C):c.423G>A(p.Pro141Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000487 in 1,312,894 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).
Frequency
Consequence
NM_001122630.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000431 AC: 65AN: 150900Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000448 AC: 1AN: 2234Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 1196
GnomAD4 exome AF: 0.000494 AC: 574AN: 1161882Hom.: 0 Cov.: 24 AF XY: 0.000505 AC XY: 283AN XY: 560738
GnomAD4 genome AF: 0.000430 AC: 65AN: 151012Hom.: 0 Cov.: 33 AF XY: 0.000366 AC XY: 27AN XY: 73778
ClinVar
Submissions by phenotype
Beckwith-Wiedemann syndrome Uncertain:1Benign:1
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CDKN1C-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
CDKN1C: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at