rs61903295
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BA1
The NM_014679.5(CEP57):āc.798A>Gā(p.Pro266=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0328 in 1,610,584 control chromosomes in the GnomAD database, including 1,024 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. P266P) has been classified as Likely benign.
Frequency
Consequence
NM_014679.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP57 | NM_014679.5 | c.798A>G | p.Pro266= | synonymous_variant | 7/11 | ENST00000325542.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP57 | ENST00000325542.10 | c.798A>G | p.Pro266= | synonymous_variant | 7/11 | 1 | NM_014679.5 |
Frequencies
GnomAD3 genomes AF: 0.0290 AC: 4411AN: 152118Hom.: 87 Cov.: 32
GnomAD3 exomes AF: 0.0324 AC: 8079AN: 249316Hom.: 160 AF XY: 0.0328 AC XY: 4425AN XY: 134896
GnomAD4 exome AF: 0.0332 AC: 48485AN: 1458348Hom.: 937 Cov.: 30 AF XY: 0.0333 AC XY: 24138AN XY: 725632
GnomAD4 genome AF: 0.0290 AC: 4414AN: 152236Hom.: 87 Cov.: 32 AF XY: 0.0293 AC XY: 2184AN XY: 74438
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