11-95821924-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_014679.5(CEP57):c.753G>A(p.Pro251=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0434 in 1,611,970 control chromosomes in the GnomAD database, including 1,770 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. P251P) has been classified as Likely benign.
Frequency
Consequence
NM_014679.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP57 | NM_014679.5 | c.753G>A | p.Pro251= | synonymous_variant | 7/11 | ENST00000325542.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP57 | ENST00000325542.10 | c.753G>A | p.Pro251= | synonymous_variant | 7/11 | 1 | NM_014679.5 |
Frequencies
GnomAD3 genomes ? AF: 0.0325 AC: 4942AN: 151908Hom.: 100 Cov.: 32
GnomAD3 exomes AF: 0.0321 AC: 8045AN: 250484Hom.: 162 AF XY: 0.0325 AC XY: 4407AN XY: 135458
GnomAD4 exome AF: 0.0446 AC: 65063AN: 1459944Hom.: 1670 Cov.: 30 AF XY: 0.0439 AC XY: 31866AN XY: 726352
GnomAD4 genome ? AF: 0.0325 AC: 4939AN: 152026Hom.: 100 Cov.: 32 AF XY: 0.0312 AC XY: 2317AN XY: 74312
ClinVar
Submissions by phenotype
Mosaic variegated aneuploidy syndrome 2 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at