EPCAM c.457A>G, p.Arg153Gly
NM_002354.3:c.457A>G
COSMIC ID: COSM6987287
Variant of Uncertain Significance (VUS)
This legacy system is being phased out as Project HERA V3 is rolled out.
ACMG/AMP Criteria Applied
PM2
BP4
Genetic Information
Gene & Transcript Details
Gene
EPCAM
Transcript
NM_002354.3
MANE Select
Total Exons
9
Strand
Forward (+)
Reference Sequence
NC_000002.11
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_002354.2 | RefSeq Select | 9 exons | Forward |
| NM_002354.1 | Alternative | 9 exons | Forward |
Variant Details
HGVS Notation
NM_002354.3:c.457A>G
Protein Change
R153G
Location
Exon 4
(Exon 4 of 9)
5'Exon Structure (9 total)3'
Functional Consequence
Missense Variant
Related Variants
No evidence of other pathogenic variants at position 153 in gene EPCAM
Alternate Identifiers
COSM6987287
Variant interpretation based on transcript NM_002354.3
Genome Browser
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HGVS InputNM_002354:c.457A>G
Active Tracks
ConservationRefSeqClinVargnomAD
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Clinical Data
Population Frequency
Global Frequency
0.0 in 100,000
Extremely Rare
Global: 0.0%
0%
0.05%
0.1%
1%
5%
10%+
ACMG Criteria Applied
PM2
This variant is not present in gnomAD (PM2 criteria applies).
Classification
Uncertain Significance (VUS)
Based on 1 submitter review in ClinVar
Submitter Breakdown
1 VUS
Pathogenic
Likely Path.
VUS
Likely Benign
Benign
Publications (0)
No publication details.
Clinical Statement
This variant has been reported in ClinVar as Uncertain significance (1 clinical laboratories).
Functional Impact
Functional Domain
Hotspot Status
Not a hotspot
Domain Summary
This variant is not located in a mutational hotspot or critical domain (0 mutations).
Related Variants in This Domain
No evidence of other pathogenic variants at position 153 in gene EPCAM
Functional Summary
Error in OpenAI Consolidation. OncoKB: EPCAMR153GEPCAMR153GSomaticNCBI Gene:4072|Show additional gene information Variant OverviewEPCAM, a transmembrane glycoprotein, is overexpressed in various cancer types.The EPCAM R153G mutation has not specifically been reviewed by the OncoKB team, and therefore its biological significance is unknown.
JAX-CKB: No results found
Database Previews
OncoKB
JAX-CKB
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Computational Analysis
Pathogenicity Predictions
Predictor Consensus
Mixed/VUS
PP3 Applied
No
Additional Predictors
Benign:
CADD: 3.84metasvm: Tmetalr: Tprimateai: T
Neutral: Show all
VCEP Guidelines
Applied ACMG/AMP Criteria (VCEP Specific)
PM2
PM2 (Unknown (Pre-LLM)) Strength Modified
From pre-LLM assessment (LLM Failed)
BP4
BP4 (Unknown (Pre-LLM)) Strength Modified
From pre-LLM assessment (LLM Failed)