NM_133459.4:c.*4956A>G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133459.4(CCBE1):c.*4956A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,254 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_133459.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- Hennekam lymphangiectasia-lymphedema syndrome 1Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, Labcorp Genetics (formerly Invitae), Genomics England PanelApp
- Hennekam syndromeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCBE1 | ENST00000439986.9 | c.*4956A>G | 3_prime_UTR_variant | Exon 11 of 11 | 1 | NM_133459.4 | ENSP00000404464.2 | |||
CCBE1 | ENST00000649564.1 | c.*4956A>G | 3_prime_UTR_variant | Exon 12 of 12 | ENSP00000497183.1 | |||||
CCBE1 | ENST00000650467.2 | c.*4956A>G | 3_prime_UTR_variant | Exon 9 of 9 | ENSP00000496897.2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152254Hom.: 0 Cov.: 33 show subpopulations
GnomAD4 exome Cov.: 0
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152254Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74386 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at