Variant · Deletion

POT1 NM_015450.3(POT1):c.125-9831_236del

CI-VAR-00357812Explore in graph →NM_015450.3:c.125-9831_236delClinVar 3423106

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
3423106	Likely pathogenic	criteria provided, single submitter	1	Hereditary cancer-predisposing syndrome	germline	1	Aug 13, 2024	clinvar

Nomenclature

Record

Gene: POT1
Type: Deletion
HGVS c.: NM_015450.3:c.125-9831_236del
Assembly: GRCh38
Position: chr7:124870929-124880872
Ref / Alt: AACAATATCTCCATTTTTATAAATTATTGGAAGGGCTTCATAGTTTCCACTAAAGAGCAGGCAAGTTAGTTTTACATTTGTCTGGTCCACAATAGTTACAACTGAGCAATAATCTGGAAAACACAAAAATATTTTACCTGACTTTCAATATTTTAAAGCATTTGATAAAATAAGAATATGCTTACTTCAAAACACCAAACCTTATTCTTCCTTTTAATTAAGTCTTCTAAGAGGATTAAAACAGAGACATTTTCTTGGCTTTCAATACACACTGCAAAATTATTTTGCAGAAGTGTTCTATAAATACTAATTTTAGAAAGTTTAGTAAAACAAAAATAAAAATCTCATTCAGTGTAAATTGTCTGGAGAGAAAATAACCTTTTCTATTGCTTCAAGGTTTACAAATCATGAAACATAAATGTAGTCAAATAAGAAAAATGCAATTTATAAAATAAACATAACTAAATTTAGAATGAAAACAAAGGCTAAGATATTTACAGCAGATATGAAGAGTTGCATCCATACTGCATAAAGAATTTATGAAAACTGTCATAAAAATCAGGATGATACAGTAAATATGTCGTACAAATGAATAAACAATACATAGAAAACTATGTCATAACAAAAACTCAAAAGAGAAAATGGTAATTCTTGCTAGTCACCTATAAAAAATTATACATTATAACAAAAGAGAGGTATTTTTAAAATTTAAACTGGTAGAAAAATTTAATATTTGGGTTGCTATAAAACGATAACTTCAAACACTGGTGGTAGTAAAAACTGTAATAGATCCTGCCTTAAAATTTTTTTTTTTTTTTTGTAATTAACATATAAAAGATTGTATGTATTTATGGTGTGCTATACATGGTTCTGAAGTACACATACATTGTGAAATCATCAAATCTAGCTAATGAAAATACACACATTACCTCACAGTTATTTTTGCAGCGAGAACACTTAACATCCATTTTCTTAGCATTTTTCAAGAATGCAACATATTTTTCACTATAGTCACTATGTTATACAATAGAACCCCTGAACTTATTCTTCCTAACTGAAATATTGTATCAGTTGACCAACATCTCCCCAAAACCTTCCCATAACCACACAGACCCCTGGCAACAACCATTCTACTCTCTACTTCTATAAGATCAATTTTTTAAGATTCTGTGCCTGGCTTATTTTACTTAAGAATGTCCTCCAGGTTCATCCATGTTGTTGTAAATGACAGAATTTCCTTTGTATGTCTAAATAGTATTCCACTGTGTATACAGACCACATTTTCTTTATTCATCCATTAATGGATGCTTAGGTTTATTCTATGCCTATTGTGAATAAGCCTGCAATGAACATGGGAGTGCAGATATCTCTTCAACATACTGATTATTTACTTTTGATATACATAGTAGTACTCCCTATCTGAAGTGTCACTTTCCACAGTTTCAGTTTCCTGCAGTCAACTGTGATCTATAAATATTTAATGGAAAATTACAGAAATAAACAATGTGAATCATCTCTTCATGCAGGGTATCCACACTGTCCACGCTCCCTGCCTGTTTGTCACTTAGTAGCTGTTTCAGCTATCATATCAACTGTCGAGGTATCGCAGTGCTTGTGATCATGTGACCCTTATTTTACTTAATAATTGCCCCAAAGTGCTAAGGCAAAGTGATAAGTGCTTAAACTTTATCACAGATACGTATATTTAGGAGAAAACAGTATATACAGGGTTCAGTACCATCCACGGTTTTGGGCAGCTGCTGGGGGTCTTGGAGCATATCCCCTTTGGACAAAGGAAAAGTACTGTACCCAGTAGTGAGATTATGGGATCATATGGTAGTTCTAATTTTTGGAAGAACATTTATATGTTTTCCACAATACCTGTGCCACGTACAACGTGCAAATGTTATCTTTTCTTCACACCCTCTCGATACTAGTCTTCTTTTTGATAACAGCTATCCTAATAGGTGTGAAGTGATATCTTGTTGTGGTTTTAATGATTAGTGATGTTGAACATCTTTTCGCATACCTGTCTGCCATTTGTATGTCATTTTTAAAGAAATGTCTATTCAGGTCCTTTGCCCATGTTTAAATTGGGTTGTTTTCTAACCATCTAGTTGAGTTCCTCATATACTTTAGATATTAACCCATTATCAGATACAGTTTGCAAATATTTTCTCTCATTCTTTACTCTGTTAATGTTGGCTGTGCAGAAGGTTTTTAAGTTTGATACAATCCCATTTGTCTATTCTTGCTTTCACTGCCTGAGCTTTTGAGGTCCTTTCCAAAGAATCTTTGGTGAGATCAATGTCATGGAGCTCTTCCCCTATGTTTTCTTCTAGTAGGTTCATAGTACTACATTGAATAGAGTGGGCATCTGTCTTGATACAGATCTTAGAGAAAAAGCTTTCAACTTTTTCTGCATTTATTAAAATGATCATATAATTTTTGTGCTCCATTCTGCTAACAAACATTTTGATTTGCATATGTGGAACCACCCTTGAATACCTGGAATAAATCCTACTTGATCATGGTGAATAGTCTCTTTAATGTGCTGTTGAATTTGGTTTGCTAGTATTCTGTTGAGGATTTTTGCATCTGTATTGGCCTGTAGTTTTTTTGCTTGTTCAGTTTTTATTGTGTCTTTGTCTGTCTTCAGTATCAGAGTGATGCTGGCCTCGTGAAATGAGTTTGGAAACATTCCCTTCTCTTCCATTTTTGGAAGAGGCTGAGAAGAATTGGTGTTAGTTCTCCATTGAATGTTTGATACAATTTGATGCTGCCTATATACATGATTCAGAAAATGCATTGACTTTCTGTCCTTCCTAGTCCCCTAGTAATGAAGGTATAGAGATTGAAAGGAACAAACCCCAAAACAGTGAAGGAAAGGAGAGTGGAAGAAAATATCAACATATTTCAGGAAAATGGAAGGTAAGTGGTTAAGGGATAAAATAAACAGAGGAGGCCAAAATCCAGAAGATACTACAAGGTGGCTACAGTGAAGATGGGAGCCACTGGGATTAAGGGTGAGAGTAAAAAGTAGGGCTGAAATCAGGGGATCAATTAGAAGTTTACACACAGAACAAGTGTTTCAATGACTACCCATCCTTATTCTCCGCTTCCCTGAAAATGACTTCAGGCAGCATCTTTGTATTTAACAACCTTTCCATTTTGCAAAATTCTAGGAACAAAGGCTCTTTTCCAAGGGGGCTGCACTCATTAACTGGGAAGTGGTAAGACTTCTCATGTTGGTGTTAACAACTAGAATAATTTCCTCCTCACCATCACATTAGGGAACCTACAGCCTAGTTGGAAGTTCTCATCCCACCCACCCTAGGCTGAAAATTTCAATCAATATGCCCTAACAAGTACTATTAGTCACTATCAAGTTTCCCACTCAAGGGGAGGGCGTATTAGAGAAACAAACTACTTACATACAAAGCAAAGGAGAAAGGTATATAAAACCTAAAATAAACTATACCTACATTTTTAAATATAAAAAGACAGCAGAAAATTACCAGACATTAGAATAAAAATGGAAGACACTGTAATCCTAGCACTTTGGGAGGCCGAGTGGGTGGATCATTTGAGGTCCGCAGTTAAAGACCAGCCTGGCCAACGTGGTGAAACCCCACCTCTACTAAAAATGACAAAAATTAGCTGGGTGGTAGTGGTGCTCTCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAAGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGTCTGGATGATAGCGTGAGATCTGCCTCAAAAAAAAAAAAAGGAAGACAGAAAGAAAATGAGGTTAGGAAGACAAAGGAGAGAAGGGAATGAGGGGGAGGAAAAAAGGAGAGAGAGAGTAAAGGGGAGAAAGAAGGGAGGAAAGGGAGAGAGGAATGGGAAGGGAAAGGGAGACAAGAAAGAAAGGAGGGTAGAAAAAGAGAAATCTGAATTTGTGAGAAGGGTGAAATAACTTGGAACCAAAAAAAAACCCTAAAAATGAAAAACCTTTAATAAGCACTTTCAGAAAGAGTAAAAATATATTATATTCTCATCCCTTGAGGACCCATTGGCTCCAGTTTTAGGTTTTAAGTTTCCTTTGTCAATATTTCTTACTATTAGTAAGGACTGATACTTCATGACATTTTTTCTTTGCTAGTGGTCTTCCAAAGACCAAAGATAAATTTTATTTATTTTCCAAAATAGAGAACACATTCTTACTTGCAATTACCATATGGCTCTATTGTACCCTTTTATATATCTGACATACATTATGGGATCTTTTTTCCTATATCTTGAAATATAGATATTCATTATCTGAGTAATTATTTCATCACTATGCATTAATTATTTCTGTGTACACTTAAAAAGACTAATTTTTAAAATGTGAAATGAGGCAATTGTCTAAAGGATGATACAAGAATGAAATAAATAATCACTATTATATCATTCTTCAGTTTTTGTACTGCAAGACATAAAAGAAGTCTGGAGACACCATCTTTTGAGTTTCTTCTTTAGCTTTATTTAAACATGGTTAAAAATTCAGAATTTTAAAATTTGTGCCCATGGTCAGTGAGAACACTGATGGAGGAAGTCATTTAACCATTATTAGATGAATCAGAAGCTAAATGCAAAACAGCAGCACTTTAGCTAATGATGATAAAATTGATCACATAAGTGAAATCTCAGGCTATTTATCTCCAGATGATATCCTATATAAAGTTTCTCAAGCTCAAAAATTGATGCATGAAAATATGTTTCTAAAAATAGGGAGAAAATACAAAATATTTCTGAAAACAGAGAGGAAATATGGTATTCTTATCCAGTAAGTCATTCAACAAAAATGATTTCACCATACGTTATTCTGGGACATGACTGAGGACCATTCCATTTTGCTAAAATGACTTGTGATGGCATTCTTTCATCTTACATGATATTTACATACCAAAATTTACATAAAATGGCATGGAAGTGGATATGCAGTAGGCAAATGTATAAATAAAGGTAGTGGAAAGAATAGGTGATATCAAAATGAAAGATCAATCTTTAATCATTTGAATTGATGTTCAGAAATCTAAAATAGAAACTGCTTTGTAATTATGGAGCAAAAACAGCTGCTCTCTCCAAAAAAATTTTTGAGTCGACAAAGTTTTCAAAAGTATTTTGATGATGCAAGTGCAAGAAGAAAAACCAAAAGCAGTAATAAGCTAGAACCATTTGTTTGTATATCTTTAAAACTAGGAAAATATGGGATTATGAAATAAAAATGACTTTGCTATGTTTATATCCTTTTTATAATCTTTAATGACTTTATTACCTCTTTATTCGCACTGCTGTATAATATTTGAAAAATGACTTAAACATTCAAAAACTTTAAAAGGTCTGGACTCATATAGTAAAAGATAATGATTGTTTTTCCTATTATGCTTAGGTGTCAAAAAACTGATATCTCCTAGAACTTAAAGCAAAAGGAAAAAGAATGACAAAAGGACAGAAAATAGAAGGAAAAAAATGAATGAGACAGCAAACTCAAAGAATTGGGCCTTCTGAACTCTGCCTTCTGAGAAAGAGATCCTCTTTATGGATATCTGGATATGGTGCACCTGCTTCCCCACAATGAGGTTATATCCTCACTTACGCAATTTGGTTCAAAACTCAGGGGCACTGAACATATGTACCATTACTGAAGTATACAGACTGTTTCTGTAAATTTTTCTGGAACATACATATTAAAGGAAATTCATGTGGCAAGAATGGGCCCTTGTTCTCAACTGCAGCACTTGTGCACTTTTGTGGACATTCCACAGCAAATACATACTCTGTAAAAAATACAGGAGCAAAAGAAAAGCCATACAAAAATATTCTACTGACTGTTCTACTCTACATAGACTTTGTTTCTGTTAAATTCTGTACCCCAGGCAAAAAAGTCAGAACCAAAGAACAGCTAACAATCTTATTCCATAAAATCAACCTTAGTACAATATCTGACCAAGAGAAGCCCCAAAAGTAAATTGTTCAAGAATAGAGGAAGAACATTTACTAGAAATGAAGATGCAGTCTTCCAATTAAAAGGGCCCATTGAAGGCAAACAGGATAAATGATCACACCAAGTCACATAATTGTGAAATTAGGGAACACCAAATATTTTTTAAAATTCTGAAAACTTCTGTAGAGAATAAAACAAGTTACCAATGCAAGACTGTGAAGCAGATTAACATCAGACTTTTCTATCAACATGACTGGGGTTACTAAAAAGACAACAAATCAATGGCTTCAAAAGTCTAAGGAATAATTTCGATACTTCAACTTTATAAAACCTGACAAAACTATCAATCAAGCATAAAGACAGATGAAGAACATTTCCAGATTTTGGCCAATCAGATATTTTACCTCCACAGTATCTTTCTTAGGTAATTCTCCAGCAATACAATGGGAAAAACCATAAAACAGAAAAAAGCAGAGTACGGACAATAGTAATGGATCTCCCAGATAGATAGATAGAGAGCAGGCCTAGCAAACAACTACTCTAGATTGGAGCAGAAGAAAGGGAGCTGATAAGAAAGGAGAGGTCCATTAAAAAAAAGAGTAATCAACCGGTCGTGGGGGCTCACACCTGTAATCCCACCGCTTAGGTCGAGGTGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAATTTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGTGAGGCTGAGGCAGGAGAGTGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATGGTGCCACTGTATTCCAGCACTCCAGCCTGGGCGACAGAGAGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTGATCACTTAGCATAATGTTCTCCAGATTCCTTCATGTTGTTTCAAGTGACGGAGCTTCCTTCTTTTTTCCACATAATTTCATTTATACATGGAATCTAAAAAAGTCAAACTTACAGAAGTAGAAAGTGATTATCAATGCCTAGCGGGTGGCAGTGGTGAGAAATGGGGAGATGCTGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTAGGAGGCCAAGGTGGGTGGATCACTAGTGGCCAGGAGTTTGAGACTAGCCTGGCCAACATGGCGAAATCTCATCTCTACTAAAAATATAAAAAATTAACCAGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTATTCAGGAGGCTGAGGCACAAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTAAGCTGAGATCATGCCACTGCACTCTAGCCTGGGTGACAGAGCAACTCTGTCTCAAAAAAAGCAGGGGGTGGGGGGAAGAAGCTCACCAAAGGATATACAAACTTTCAGTTCAACAGGAGGAATAAATTTTCAAGATTTGCACAGTGTGGTGACCATACTTAATAATGATGTATTGCATATTTCAAAATTGCAAATAGATTTTAAATGTTCTCACTATAAAAAATAAGTATGTGATGTAATGGATATGTTAATTAGCTTTATATAATCATTCCACAATGTATACACGTATCTAAACATCACATTGTCCCCCACAATATGTATTTGTTTGCCAATTTAAAATAAAAATTTAAATTAAAACAATAAATAATCCCATACACAACTACATATTTATATAAACTTAAGGGCATAGTGAAGGCGCAGTTTTATTATTAATAATGATAGCAACAAAAAAGAAAAGGCATTAAAAATCCCACAAAATATAAAAGGCTATACAGGAATATCTGATCCAAATATGAAGAAAACTAAAATGTAGCATAGAGATAGCCAAAGAATGGAAGAAATATGTATGGTTACAGAAGAGAATATAAATGCTCATAATTATGACAAAAGATAAGTAAAGGTATACCTGACAGAAGACTAGAGAAGAAAGTAAACAACAACACTGAATAAAGTTGACGAATAAGAAATGAAAGACAAATATATTATTTAAAGTTAAAGAGAATCAATAAGAAAAAAAGATTAAAAATTTAAAAGGAATTATATTTTCCATAGTATAAAACATTTATATAATCTAAACTCTTCCTCTGAAAATACTAATTGTTTGATAAATTACAACCACATGGTAACACTTCTAAAAAATCATTTCTCCAATCATAAGTTAATCCCAGGATAAAAACAAATAATCCAGGAGGTGAACAAAGATGGGAGGCAAATTCAAAAGCTAAAACACATCTGAAAGGGCTCTCACTAGAAATCTAGAGTTTTGGAAATTATATACCAAGTCTGAGAAAAGAAACTACATCTTGGTCTATTGCAAGGTAGAAGCTGAAAGTGAGCTATCAGCAGAAATCAGTGACCTTAAAAAACGGTAGCTAGGGAAAAAAATCCACCTGCTAGCATAGGGAATCATGAAGAAAATCTGCCTGTCTGTGCCACGGTTTGGAAATGAGGGAAAAATAATAATAGGCCAGTTTGTGGAGTAACTGGCATTAATACATTCAATGAAATTTCTGTAGATATCCTCTTAGTTTGGTTTTCTTTAGTTTTTGTTTTGTTTTGGTTTTCGTTAATGGCAAACGACATGCTGACTCTAAAGTTAAAATGGAAGAGCAGGGGGCTACCGTTATTTAAGACATACTTGGAAAAGAAGAATGCAATAGGATATTTTTCTGTTGAATAGCAAGATTAAAAAGTAAAGAAATTAGGATAATGTAGTGTTTTCTGAGAGGGAAAATTCATTCTTTAGCAATATAAGATTTTGGTGATAAAGAGAAAAAAATCACTATCACTTCTCTATTTGTACTTCACCTATGTAAAAGTTAATTCCTACTACATACATTAACGGTTTCATCTAAAAACAAATCCCACAATACACAATACAACAACTGTTCTTCCACACAGTACATCATTTATGTTATGTGACATCCAACTAACACCCTCTCACAGAGGATTTTTTGGTAATAGCTTATAGTGTTTCCCCAAACACTATACTGGCTATTAACTTTGCAGCTGGATTCATAAGCATATTCCCAATAGTGTCACTTGAACCTGTTTATGCTGTAAGTAGAACTGTGAATAATGCCTGTATAGTTTTGATGCCCCTTTTCCCCACAAATGTGACATAATTAAGCAATTTCACAGTGAAACAAATGATTGGTTTGCCAATAAAAAAAAACACACAATGTACTTTGCATAAAACACAACTATTTTGAAGGTTTGAAGTTTCTTAAAATTTCGTGATAAACACAAGGGCAAAGAGTTCACTAGTCTGACAAAATCCAATTCAGATTTTAAGCTGCAGTAATTCTGTATTACGTCTCTCACTTTAAATGCTCCAAATTGATCTACTTTCGTAAACTGTGAATATAAGACCAATACAGGAAAAAAACTGTGAATTTAACTAGGCATAAATAATACTAAATAGTTTAATTTAATGTTAATGTTAGTTTAACTTAATGTTTAAATAGTTTAATGTTAGCCAAGATGAACTGACAAAGCTCAGTCCCTGTAGCACTTACATAATATTGAAGAATGTAATGACTACAGAAAACTATTGAGATTTTTGTAAAAATTTAGATTTAATCTAAATTTTAAAATACTGAAAATTGTTTCACATTTTGATTTTTCTATGAAGATGTCAACTTTCCAAAAGATGACCTAACAGACTGCAAAAGACTCTAGGTAACACTTTGAGAAACATTATTGTAGACCCACTATCGAGATCTTTACAAGGCCACCTCTTGCTTTTGCAGAATCTTTGTGCAAGTTAGAAAAAGACTCTCCTTTCTCAAATAAAAGTACTGCAAAAACCTAAACAATTTTACAGAGGAACGTGACTGAGTCCAAGAGAGCAGCAGCCTTGGCTACATACACACAC 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