NM_001364782.1:c.598T>G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001364782.1(CES4A):āc.598T>Gā(p.Trp200Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000547 in 1,461,388 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001364782.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CES4A | NM_001364782.1 | c.598T>G | p.Trp200Gly | missense_variant | Exon 5 of 14 | ENST00000648724.3 | NP_001351711.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461388Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727006
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.598T>G (p.W200G) alteration is located in exon 5 (coding exon 5) of the CES4A gene. This alteration results from a T to G substitution at nucleotide position 598, causing the tryptophan (W) at amino acid position 200 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.