Variant · Deletion

EPCAM NC_000002.12:g.47383704_47388612del

CI-VAR-00006111Explore in graph →ClinVar 12775

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
12775	Pathogenic	no assertion criteria provided	0	Lynch syndrome 8	germline	1	Jan 01, 2009	clinvar

Nomenclature

Record

Gene: EPCAM
Type: Deletion
HGVS g.: NC_000002.12:g.47383704_47388612del
Assembly: GRCh38
Position: chr2:47383697-47388606
Ref / Alt: CGATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCCATTTTCTTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGCACCACCATACCTGGCTAATTTTTTTGTATTTCTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAAATCCTGATGTCAGGTGATCTGCTCACTTCGGCCTCCCAAAGTGCTGTGATTATAGGCGTGAACCACCATGCCTGGCCTAAACTGTTAAATTTCTTTAAAGATTATTCATTGTTTCCTTTTTTTCTTTCTCTTTCTTTTCTGTTGTCCCATTGGATCCAGCATTGTTTTTGATTTTGATTTTTGTTTGTTTGTTTCACTTGTCGTGGTAGACTTTTTTTTGTTTAGTAGTGAAAGTTTTTATTTTATTTTATTTATTTATGGAGACAGAGTCTCCTTCTGTTGCCCAGGCTGGAGTGCAATGGTGCATGATCTTGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATCTTTAGTAGAGATGAGGTTTCACAATATTGGCCAGGCTGGTCTTGAACTCCTGACCTAAAGTGATCCACCCACCTCAGCCTCTGAAAGTGGTAAGATTACAGGCATGAGCCATCATGCCTGACCTATTTTATTTTATTTTAATTTTTTTTTAGAGATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTGATTTTCCTGCTTCAGTCTCCCAAGTAGCTGGGATTACAGGCGACCACCACCGCGCCTGGCTAATTTTTTTGTTTTTTTAGTAGAGTCGGGGGGTTTCATCATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAAGTGATCCGCCCACCTCGGCCCCACAAAGTACCGGTGAGCCACCACGCCCAGCCCACCTTATTTATTTTTAAGAGACAGGGTCTTACTCTGTAGCCCAGGCTGGAGAGCAGTGATGCCATCTCCACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGGTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCGTGCCATGACACCTGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACCGTGTTGGCTGGGCTGGTCTGAAACTCCTGACCTCAGATGATCTTCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACTCCACTGGTGTGAAATTTTTAATTTAAGAAGCAATAAATGTTTATGGATAGATGTTAAAATTAGTTTTTTTTCAGATCAAAATTATGTCCATTAAAAGCATATATGTCTGTTTAGATAATCTTTTTTTGAATAGCAGTCCTAAAACAATAGTTGTCTTTCTTCCACTCAGGTTATTTCCAGAAAGAAGAGAATGGCAAAGTATGAGAAGGCTGAGGTAAATGGATTACTTACCTAAATAGAAAGGCCCTGTTGAATCTCTTACTCCTAATCACTCTACCTTCCTACACACTGATGCATTTCAGTTATACTGGAGTCCCTTTATACTGTTGTCTTTAGGGTCTTAGGGACAGTCTTAGAATGTACTCTTACCTAAATATTCTTGCGTGAGTTCCATGGCAGATCACCATCTGTTTTCTGCCTCATAGAAGAGTGGAATGGGAAGCCTATGGTTTTTATTCTACAAAGAGTCAACATCTAACAGAATCTTCTGAAGGCATACTCCAGTGGATTCACCTTGGAGAAACTCATTGTGACTGATGATCTGATTTATTATCTCTATGCCAGTGAAATAATCATTTAATATGAACTTAATTTGTCATAATCTATTGTGTACTAACTAGTCTATACTAGTGTGACATCAAAGTGTCAGATTGTTAGTGTGTTTCAGTCCCTTGGAATTGAATATGAACACTTATCCTTGAACCCTATCAATAACATTTTTCACATATCTCAATTTTTGTGTGTCTTTGTAGTTGTATGTGGGCCACTTACTAATATTTTAGCAAGTAATAAAAATAGAAACGTAAAGGAATATTGGAAAAAGTCTAATGGAACCAGAAAGTTCTAGCATTTTTTTCCCATTCTGTAGTAGGTCATCTGGTTTATTTGGTTTGGTGACCGCAAGTCTAGAAGACTAACCCTGAATTGAATGGTAACAGACAGGCAGAATGACAATGTAGTGTTGCAGTGCAGAGCAGTACAGACCTGGGTTTGGCTGGGCAAAATTATATAACTTCTTTAAGCCTCCATGTTTCCTCATCTGTAAAATGAGGATAATAGATAGTATGGACCTGTTGCAAGGATTAAACATAATCAGTGTAAAGTGTTGGTCCCATGCTTGCCACATAAGAAAATATTTGTCAACAGAGTGGTAGTTGTCATTATCATTGTCTCAGTTTGCCTGTAACTAGTTGTGTGATCTGAGACAAACACTAATTTTGAACTTGAGTTTCCCCACATGTAAAATGAAAGATTGATAATAGAAAGTAAATCAATTTTTTCTAGCATTAAAAATAGTATGCATTTAATAAAAATCTTATTCTTAATGATCTAGCTTACCTCCAACTTGCCCTAGTCACTTTGGCGATCTTGTCTCTAAATAGAACCTTGAAAACACTTAAATGTGTGTTTCCTTGCAATATAACTTTTTCTTTTTTTATTTAAATAAGTCTTATAAATGTGGGAAAAAATTATCTTGTGTTCCTTTAATTTCATTTTTATTTAATACTATTTTCAGAATGAACAAAAGATTGAAAAATTATTTAGAATTTTTTTCTGTGCTTTTTCCTGTTTCAGATAAAGGAGATGGGTGAGATGCATAGGGAACTCAATGCATAACTATATAATTTGAAGATTATAGAAGAAGGGAAATAGCAAATGGACACAAATTACAAATGTGTGTGCGTGGGACGAAGACATCTTTGAAGGTCATGAGTTTGTTAGTTTAACATCATATATTTGTAATAGTGAAACCTGTACTCAAAATATAAGCAGCTTGAAACTGGCTTTACCAATCTTGAAATTTGACCACAAGTGTCTTATATATGCAGATCTAATGTAAAATCCAGAACTTGGACTCCATCGTTAAAATTATTTATGTGTAACATTCAAATGTGTGCATTAAATATGCTTCCACAGTAAAATCTGAAAAACTGATTTGTGATTGAAAGCTGCCTTTCTATTTACTTGAGTCTTGTACATACATACTTTTTTATGAGCTATGAAATAAAACATTTTAAACTGAATTTCTTAACTTTGACATTTCAAATTTCTTCTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGATGGAGTCCCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACTTCTGCCTCCTAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGACTACAGGCGCCCACCACCATTCCTGGCTAATTTTTGTATTTTTAGTAGAGACAAAGTTTCACCATATTGGCCACGCTAGTCTCGAACTCCTGACCTCACGATCCACCCACCTCTACCTCCCATAGTGCTGGGGTTACAGGCGTGAGCCACCGCGCCCGGCCTCTTTTTTTCTTTTTGTTTTGTTTTTTCTTTTTTTTTTTGAGACAGGATCTTGCTCTGTGGCCTAGGCTGGAGTGTAGTGGTGCGATCTCAGCTCACTGCAGGATTCAAGCGATTCTCCTGCCTCAGCCTACCAAGTAGCTAGGATTACAGGCTCCCACTACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAAAGGTTTCTTTTTCTTTTTTCTTTTCTTTTTTTCTTTTTTTTTTTTTGGGGGGGTGAGACAGAGCCTAACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGATGTGCACCACCATGCCCGGATTATTTTTGTATTTGTAGTAGAGACAGAGTTTCGCCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCCACCTTGGTCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACCATGCCTGGTCCTATTTACTCTTTGTTAAGTGGAAGTGGATCATCATAAAGGTCTTGATCCTCATAGTTTTCACTTTGAGTAGGCTGAGGAAGAGGAAGGGTTGGTCTTGCTGTCTCTGGGTCGCAGAGGCAGAAGAGGTGGAGGAGGTAGAAGGGAGGCAGGTGCACACTGGGTGTAACTTTTATTGAAAAAAAATGTGTTCAAATATACCCGCACAATTCAAACCCATGTTCAGGGTCAATTGTAGTTGTGACAGACCCAATGACCCACAGAGTCTAAAATGTTTATTGGAAATGTTTGCTGACCCCTGCTCTAGGATGCTGGGGGAAAGCTATTCCTAGGTAGGTGTCTCAGCAGACATGGAAAGCAGCCTATAATATTGCCCCAGCAGGTGGGGTATGGAACAGATGCTCAGGGAGGCTGCTGGCTGCTGTCCACTGCAGGCCCAGAAGCGTCCTGGAGAAGCCACCCCATGCTGCAAGAGCCAGATCATGGAGCAGCCCTGGATGCTGCAGGAGCCTGTCAAGCCAGGACACCAGAGCTAGGAAACAAAACCTTCCTTTTCAGTGCCTCTCTAGCACCCTCTGCTGACAGAGCTTCAGATCCATTTTCACAGAGAGGTGCAAAGGGTGAATTTGTTTTTTAGGTTTGTGTGTGTGGTTTTGTTTTTTTTTTTTTGAGACGGAGTTTTCACTCTTGTCTCCCAGGCTGGAGTGCAATGGCAT → C