rs878854491
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002354.3(EPCAM):c.523C>G(p.Gln175Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 (★). Synonymous variant affecting the same amino acid position (i.e. Q175Q) has been classified as Likely benign.
Frequency
Consequence
NM_002354.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EPCAM | NM_002354.3 | c.523C>G | p.Gln175Glu | missense_variant | 5/9 | ENST00000263735.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPCAM | ENST00000263735.9 | c.523C>G | p.Gln175Glu | missense_variant | 5/9 | 1 | NM_002354.3 | P1 | |
EPCAM | ENST00000405271.5 | c.607C>G | p.Gln203Glu | missense_variant | 6/10 | 5 | |||
EPCAM | ENST00000490733.1 | n.372C>G | non_coding_transcript_exon_variant | 3/6 | 3 | ||||
EPCAM | ENST00000456133.5 | c.607C>G | p.Gln203Glu | missense_variant, NMD_transcript_variant | 6/11 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 28
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Hereditary cancer-predisposing syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 02, 2023 | The p.Q175E variant (also known as c.523C>G), located in coding exon 5 of the EPCAM gene, results from a C to G substitution at nucleotide position 523. The glutamine at codon 175 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.