chr11-2885154-C-G
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS2
The NM_001122630.2(CDKN1C):āc.303G>Cā(p.Ala101=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000067 in 1,522,830 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 Likely benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. A101A) 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 -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDKN1C | NM_001122630.2 | c.303G>C | p.Ala101= | synonymous_variant | 2/4 | ENST00000440480.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDKN1C | ENST00000440480.8 | c.303G>C | p.Ala101= | synonymous_variant | 2/4 | 1 | NM_001122630.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000447 AC: 68AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000325 AC: 4AN: 122936Hom.: 0 AF XY: 0.0000296 AC XY: 2AN XY: 67646
GnomAD4 exome AF: 0.0000241 AC: 33AN: 1370598Hom.: 0 Cov.: 31 AF XY: 0.0000148 AC XY: 10AN XY: 675782
GnomAD4 genome AF: 0.000453 AC: 69AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.000417 AC XY: 31AN XY: 74414
ClinVar
Submissions by phenotype
Beckwith-Wiedemann syndrome Benign:2
Likely benign, criteria provided, single submitter | curation | Sema4, Sema4 | Apr 23, 2021 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 16, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at