Variant · Deletion

EPCAM NM_002354.3(EPCAM):c.556_945del390 (p.Tyr186_Ter315del)

CI-VAR-00378626Explore in graph →p.Tyr186_Ter315delNM_002354.3:c.556_945del390ClinVar 3780848

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
3780848	Pathogenic	criteria provided, single submitter	1	Lynch syndrome 8	germline	1	Oct 26, 2017	clinvar

Nomenclature

Record

Gene: EPCAM
Type: Deletion
HGVS c.: NM_002354.3:c.556_945del390
HGVS p.: p.Tyr186_Ter315del
Assembly: GRCh38
Position: chr2:47378952-47386613
Ref / Alt: GTATGAGAATAATGTTATCACTATTGATCTGGTTCAAAATTCTTCTCAAAAAACTCAGAATGATGTGGACATAGCTGATGTGGCTTATTATTTTGAAAAAGATGTGAGTATCATCTTCTTTATTCCTGTGTTCAGGAATGTAGTCTATCATGCCTCAATGAATTAAATATATTTCATCACCTTTTTATCCACTTACAGATCAACCAAATGGTTCGCTGCTGCCGTTAATTTTGTCCTCCCTGTCACTCACATGCATCTTGCTTGTTTGTATATTTATGCCTCTTATCAAATTGTTCTGCCTAAAATATCTCCCCTCTTTCTTATAATTCTTATTTATTATCTACTTGGTGGTTACTTAGTTTGTGCATATATGCTCCCCTATGATATTTATAATTTACACAAATAAAAGTCTGTTAAAAAAGACTGTAACTGATATGATTAAAATATTTTGTTGAAACTTTAATATATTATAGTGAGGTATTTTCTGCTGAAATATGAGGTTTGCTTCAAAATAATCTGGGCGGGGGTGAAAGGATGAAAGGAAGAAAAGATGAAGTAAGAGAGGCTATGTGTTGTTGGCCTTGCATCTGGGTGATAGGTACATGGGCATCATTGCACTACTCTTTCTACTTTCGTGTATGTTGAAAGGTTCCTGTAATAAACAGTTTTTTAAAGTTCCAATAAATTAGATTGTTATCACTAAAACCATAAAGATTCTTGGCAGCGGTTCTTTTGGCATACAATTTGTATGTAATTATATGTGGCCATGGTTGGTTTCCTTAAATATTTTTAATTCCTTTTCTCCTTTTCAATACAGGTTAAAGGTGAATCCTTGTTTCATTCTAAGAAAATGGACCTGACAGTAAATGGGGAACAACTGGATCTGGATCCTGGTCAAACTTTAATTTATTATGTTGATGAAAAAGCACCTGAATTCTCAATGCAGGGTCTAAAAGCTGGTGTTATTGCTGTTATTGTGGTTGTGGTGATAGCAGTTGTTGCTGGAATTGTTGTGCTGGTGAGTACAGAACAAGTAAAATTTCATTTAAGGGTATATTTTTTCAAGAAAAAGTAATAGTGGCTGGGCGCGGTGGCTCACCACACCTGTTATCCCTACACTTTGGGAGGCTGAGACAGGTGGATCACTTGAGCCCAGGAGTTTGAGACCACACTGGGCAACATGGTGAAACCTTATCTGTAGTAAAAATACAAAAATTAGTCAGATGTGATGGCTTGCACCTGTGGTCCCATCTACTTAGGAGGCTGATGTGGGAGTGGTCAGTTGAGTCCAGGAGGTCAAAGCTGCAGTGAGCCATGATCACACCACTGCACTCCAGCCTGGGCAACACAGCAGGACCCTGTCTCAAAAAGAAGAAAAAAGGAAATATGAAAAAGTAACATCCATATTCCAAAACATTCAGGGAAAAAAATCTTCATTTTTAAATAATTTTTTTATGGTGAATGAATCTATTGTATCTCTGGTCTCTTTTTACAAAAGTCATTTTATGAAGCAAGAAAGGATGCTAATATTAAAAAGCTTGTGGCTGTGCACCTCACAGGCCAGTTAAATTGCCATCTAGCAGCAAGCGTCTTTCAGTTGTCACTGCAAACAATTCAACACCTAGTGCAAAATACCTGAACCCCCAAACCACTCAATAAGATGGAACAACAGAACACAAAGTTAACGTTAGCCATACAAAAGAGTTAAAAGTGATATGTGAATCAATACTTCCAAGTAAAGATGAGCAAATTGAATTTAACAGTGCTTCAGCAAAAGAATGTATTGCTTGAAGAAGTGAAAGGTTTATTTTAGGAATGTAAGGATGCTTCGGTATCAAGAAATCTTACTAACACTGGCCAGGTGTGATGGCTCAGGCCTGTAATCGCAGCACTTTGGAAGGCTGAGGCGGGTAGATCACTTGAGATCAGAAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAACATACAAAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCTATTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCTGGGAAGCAGAGGTTGTAGTGCGCCAAGATCATGCCACTGCACTCTAATCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCCGAGGTCGGGAGTTCGAGACCAGCCTGACCAACGTGGAGAAACCCCATCTCTACTAAAAATACAAAATTATCCGGGCATGGTGTCTCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGCTGAGATCATGCCATTGCACTCCAGCCTGAGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAATCTTACTAACACAACAGAATTCAGAAAGAGGTTTGAGGGTATTTAGGAACTTAGATTTCCAGTTCAATCAACCATGTTTGGCTATCCATCTGGAACAAAATGAAAGTTGAATTCCTATTTCACTCCACCAGGCTGGCCATATTGCCCAGCTGTGTGAGGGTGGCATGTCCAGAGCACAGTAGTAGGAAAGGCGTTGGGCAGTGTATCCATTTTCAAAGACATTTACATATTTAAAAATACAAAAAAGTAAACTCCCAAGAAAATTAATTGAGGGAATGTTTGTACAACCTTGTGGTAGGGGAAATTATGTAAGGCAAGAAATCTGGAATCCATGAAAGAAAAGATACATATATGTGTATGTATATTTTGAGAGAGGGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTAGCATGATCATAACTCACTGCAACCTCCAATTCCTGGACTTAAGTAATCCTCCTGACCTATCCTCCCAAGTAGCAAGGACTACAGGTATGTGCCACTATACCTGGCTAATTTTTTAATTTTTAGTAGAGACGAATTCTTGCTATGGCTGCCGAGGCTGGGCTTGAACTCCTAGGCTCAAGCAGTTCTTTTGGCTTAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCATTGCACCTAGTCCTATATATATATATTTTGGCTTCATTAAAATTAAGCATTTTATATGGCAAAGAAACTGTAAAGTAAAAAATAACGATGGGCATGAAAAAAATATGGCGCATAAAGCAAAAATGGATATTATACATAATATACAAAGAGTTCTTACAAATTGATGAGGAAACCTAAAGAAAGAATGACAACAGGTAGGGATAGACAGTTAATAGAAATTTCAGATGGCAAATGAACACAAGTGGTTAATGCTGGAAGTCTAATTGTTCTGTAGAAATAAATGAAAACACAAGTGCAATAAGGAAGCACATTGTTATTGTATCATAGCATTGCTTGTAAAGGTGAATCTGGCCAGGCGTGGTGGCTTACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGCTGGGAGTCCGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATGAGCCAGGCATGGTGGTGCATGCCTGTCATTCTGGCTACTCAGGAGGCTGAGGCAGGAGAGTCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCGAGATCATGTCATTGCACTCCAGCCTGGGCAACGAGAGCAAAACTCTGTCTCAAAAAATGAATAAAAACAACAACAAAAGTGAATCTGGAAAATAGCCTGAGTGTGTATCAGTAAGAGAGTAAATTATGTTTATTGTATCTACGATAGGGAATAATGTGAATGGTGAATGAGTTCGATCTTTATCTTTGGATCTGGAATGGTTGCTATGATGTTGATACAAGCTGTGCACAGGTGGTGATGATACTGCATGGTCCCATTTTTAGACCCCAAAACTTAGATGCATGTGTTTATATATGATATTTGTATTAGTGTGGAAAAGGAGGATGTGGAAGAATGCACACCAAACTGTTAAATTTCTTTCTTTTTTTTTTTTGGAATGGAGTCTCGCTGGCCGGACGTGGTGGCTCACTGCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGCTGGGTCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTGAAAAAAAAAAAAAAAAGAAAAGGAGTCTCTCTGTGTTGCCCTGGCTGGAGTGCAGTGTCATGATCTCGGCTCACTGCAGCCTCCACCTGCCGGGTTCAATTGATTCTCCTGCCTCACCCTCCCGAGTAGCCGGGACTACATGCAGAAGCCACCATGTCCAGCTAATTTTTGTATTTTTTGGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCATCACCTCGTGATCCGCCTGCCTCGGCCTCTCAAAGTGCTAGGATTACAGGCATGAGCCACTGTGCCCGGCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCCATTTTCTTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCGTGCACCACCATACCTGGCTAATTTTTTTGTATTTCTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGATCTCGAAATCCTGATGTCAGGTGATCTGCTCACTTCGGCCTCCCAAAGTGCTGTGATTATAGGCGTGAACCACCATGCCTGGCCTAAACTGTTAAATTTCTTTAAAGATTATTCATTGTTTCCTTTTTTTCTTTCTCTTTCTTTTCTGTTGTCCCATTGGATCCAGCATTGTTTTTGATTTTGATTTTTGTTTGTTTGTTTCACTTGTCGTGGTAGACTTTTTTTTGTTTAGTAGTGAAAGTTTTTATTTTATTTTATTTATTTATGGAGACAGAGTCTCCTTCTGTTGCCCAGGCTGGAGTGCAATGGTGCATGATCTTGGCTCACTGCAACCTCTGCCCCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGATGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATCTTTAGTAGAGATGAGGTTTCACAATATTGGCCAGGCTGGTCTTGAACTCCTGACCTAAAGTGATCCACCCACCTCAGCCTCTGAAAGTGGTAAGATTACAGGCATGAGCCATCATGCCTGACCTATTTTATTTTATTTTAATTTTTTTTTAGAGATGGAGTCCCACTCTGTCGCCCAGGCTGGAGTGCAATGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGTGATTTTCCTGCTTCAGTCTCCCAAGTAGCTGGGATTACAGGCGACCACCACCGCGCCTGGCTAATTTTTTTGTTTTTTTAGTAGAGTCGGGGGGTTTCATCATGTTGGCCAGGCTGGTCTTGACCTCCTGACCTCAAGTGATCCGCCCACCTCGGCCCCACAAAGTACCGGTGAGCCACCACGCCCAGCCCACCTTATTTATTTTTAAGAGACAGGGTCTTACTCTGTAGCCCAGGCTGGAGAGCAGTGATGCCATCTCCACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTGGTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCGTGCCATGACACCTGGCTAATTTTTGTATTTGTAGTAGAGATGGGGTTTCACCGTGTTGGCTGGGCTGGTCTGAAACTCCTGACCTCAGATGATCTTCCCGCTTCGGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACTCCACTGGTGTGAAATTTTTAATTTAAGAAGCAATAAATGTTTATGGATAGATGTTAAAATTAGTTTTTTTTCAGATCAAAATTATGTCCATTAAAAGCATATATGTCTGTTTAGATAATCTTTTTTTGAATAGCAGTCCTAAAACAATAGTTGTCTTTCTTCCACTCAGGTTATTTCCAGAAAGAAGAGAATGGCAAAGTATGAGAAGGCTGAGGTAAATGGATTACTTACCTAAATAGAAAGGCCCTGTTGAATCTCTTACTCCTAATCACTCTACCTTCCTACACACTGATGCATTTCAGTTATACTGGAGTCCCTTTATACTGTTGTCTTTAGGGTCTTAGGGACAGTCTTAGAATGTACTCTTACCTAAATATTCTTGCGTGAGTTCCATGGCAGATCACCATCTGTTTTCTGCCTCATAGAAGAGTGGAATGGGAAGCCTATGGTTTTTATTCTACAAAGAGTCAACATCTAACAGAATCTTCTGAAGGCATACTCCAGTGGATTCACCTTGGAGAAACTCATTGTGACTGATGATCTGATTTATTATCTCTATGCCAGTGAAATAATCATTTAATATGAACTTAATTTGTCATAATCTATTGTGTACTAACTAGTCTATACTAGTGTGACATCAAAGTGTCAGATTGTTAGTGTGTTTCAGTCCCTTGGAATTGAATATGAACACTTATCCTTGAACCCTATCAATAACATTTTTCACATATCTCAATTTTTGTGTGTCTTTGTAGTTGTATGTGGGCCACTTACTAATATTTTAGCAAGTAATAAAAATAGAAACGTAAAGGAATATTGGAAAAAGTCTAATGGAACCAGAAAGTTCTAGCATTTTTTTCCCATTCTGTAGTAGGTCATCTGGTTTATTTGGTTTGGTGACCGCAAGTCTAGAAGACTAACCCTGAATTGAATGGTAACAGACAGGCAGAATGACAATGTAGTGTTGCAGTGCAGAGCAGTACAGACCTGGGTTTGGCTGGGCAAAATTATATAACTTCTTTAAGCCTCCATGTTTCCTCATCTGTAAAATGAGGATAATAGATAGTATGGACCTGTTGCAAGGATTAAACATAATCAGTGTAAAGTGTTGGTCCCATGCTTGCCACATAAGAAAATATTTGTCAACAGAGTGGTAGTTGTCATTATCATTGTCTCAGTTTGCCTGTAACTAGTTGTGTGATCTGAGACAAACACTAATTTTGAACTTGAGTTTCCCCACATGTAAAATGAAAGATTGATAATAGAAAGTAAATCAATTTTTTCTAGCATTAAAAATAGTATGCATTTAATAAAAATCTTATTCTTAATGATCTAGCTTACCTCCAACTTGCCCTAGTCACTTTGGCGATCTTGTCTCTAAATAGAACCTTGAAAACACTTAAATGTGTGTTTCCTTGCAATATAACTTTTTCTTTTTTTATTTAAATAAGTCTTATAAATGTGGGAAAAAATTATCTTGTGTTCCTTTAATTTCATTTTTATTTAATACTATTTTCAGAATGAACAAAAGATTGAAAAATTATTTAGAATTTTTTTCTGTGCTTTTTCCTGTTTCAGATAAAGGAGATGGGTGAGATGCATAGGGAACTCAATGCATAA → G