rs1553288720
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016343.4(CENPF):c.2206G>A(p.Glu736Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,784 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016343.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CENPF | NM_016343.4 | c.2206G>A | p.Glu736Lys | missense_variant | 12/20 | ENST00000366955.8 | |
CENPF | XM_017000086.3 | c.2206G>A | p.Glu736Lys | missense_variant | 12/20 | ||
CENPF | XM_011509082.4 | c.2206G>A | p.Glu736Lys | missense_variant | 12/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CENPF | ENST00000366955.8 | c.2206G>A | p.Glu736Lys | missense_variant | 12/20 | 1 | NM_016343.4 | P2 | |
CENPF | ENST00000706765.1 | c.2206G>A | p.Glu736Lys | missense_variant | 12/19 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461784Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727168
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 14, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at