16-55816928-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001025195.2(CES1):c.941G>A(p.Arg314Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,613,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001025195.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CES1 | NM_001025195.2 | c.941G>A | p.Arg314Lys | missense_variant | 8/14 | ENST00000360526.8 | |
CES1 | NM_001025194.2 | c.938G>A | p.Arg313Lys | missense_variant | 8/14 | ||
CES1 | NM_001266.5 | c.938G>A | p.Arg313Lys | missense_variant | 8/14 | ||
CES1 | XM_005255774.3 | c.941G>A | p.Arg314Lys | missense_variant | 8/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CES1 | ENST00000360526.8 | c.941G>A | p.Arg314Lys | missense_variant | 8/14 | 1 | NM_001025195.2 | P4 | |
CES1 | ENST00000361503.8 | c.938G>A | p.Arg313Lys | missense_variant | 8/14 | 1 | A1 | ||
CES1 | ENST00000422046.6 | c.938G>A | p.Arg313Lys | missense_variant | 8/14 | 1 | A1 | ||
CES1 | ENST00000569260.1 | c.83G>A | p.Arg28Lys | missense_variant, NMD_transcript_variant | 2/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000328 AC: 5AN: 152232Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251412Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135876
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461628Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727122
GnomAD4 genome ? AF: 0.0000328 AC: 5AN: 152232Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2023 | The c.938G>A (p.R313K) alteration is located in exon 8 (coding exon 8) of the CES1 gene. This alteration results from a G to A substitution at nucleotide position 938, causing the arginine (R) at amino acid position 313 to be replaced by a lysine (K). 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