Variant · Deletion

CHEK2 NM_007194.4(CHEK2):c.909-49_1095+51del

CI-VAR-00200965Explore in graph →NM_007194.4:c.909-49_1095+51delClinVar 1285424

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
1285424	Pathogenic	criteria provided, single submitter	1	Familial cancer of breast	unknown	1	Oct 26, 2020	clinvar

Nomenclature

Record

Gene: CHEK2
Type: Deletion
HGVS c.: NM_007194.4:c.909-49_1095+51del
Assembly: GRCh38
Position: chr22:28696849-28699986
Ref / Alt: TTCTGAACAAGAATCTACAGGAATAGCCACATACAGAATGCCAATTTCTTACCTTTATAAGACAGTCCTCTTCTTGAGATGACAGTAAAACATTCTCTGGCTTTAAGTCACGGTGTATAATACCGTTTTCATGAAGGTACTACACAGAAAGGCAGGCATGACCCTCAGATTCATGCAGTAGATACTTAAGTAGAATCAAAGTTACCAACACACACATCTCACAGCTGGGTGAAACCGTAAGCCGTGATACACACAACCATATTCTCCAAAATCATAGAAAACTGTTGGGGTAAAGTTTACAAATTTGTTTGAGAAGATCTTTAAAAAGCAGGGAAATGAAAAAAGCAACTTAGAACAATTAACCTTTCATTTCACTTTAAGATAATAAACAACTCTTCACACAGCAGAAATGTAAGGTGTCAATTTCAATAAAAATTCAAATGGGTAACAGAAAATGTTTTGAGAACATACCAAATAAACACAAAAATTCCACCAAAATGATATATTTGGTTATTGCAGTCCTGAGAATATTTTTAAAGGGAACCTATACAAATATATATTTGTAAATATCTATTTATGTGATACAAATATATATCTGTTTATGTGAGTTAACCTATTCCTCAATGCAAAGACTTTGTCTTTGAAAAAACTATTGTCTGAAATAGCATATAAAAATGAACAAACACCAACATACTATGCCATATTTCTTTTCTTTTCTTTTCTCTTTTTTTTTTTTCTTGAAACAAGGTCTCACTCTGTCCCCCAGGCTGAAGTGCAGTGGCACCATCTTAGCTCACTACAGCCTCAACCTCCTCAGCTCAAGTGATCCTCCCACCTCAGCCTCATGAGTAGCTAGGACCATAGGCACAAAGCATGCCACTTCAACCAGCTAACTTCTTTATTTTTTTGTAGAGACGGGATCTCACAATGTTGCCCAAGCTGGTCTGGAACTCTTGGGCTAAAGTGACCTTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCCTGCCTGGCCATATTTTTTTAGGAAACAAAATTTTCACATATCCACAAACTGTACTCAATTCATGTTAATATTCTTGGTTACTCAATATAAATAAATGGAATAAACCAATAAGGGAGCAATACACTGAGTAGGTGACAGCTACCATTAAAAAGGGCTTGCGTTGTACCCCATAAACATGTACACCTACTATGTGCCCACAAAAATTAAAATTAAAATTAAATTTTTTTTTTAAAAAGGCTTGTGGGCGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCTCAAGGCAGGCGGATAGTTTGAGGTCAGGAGTTTCAGAACAGCCTGGCCAACATGGTGAAACCCTATCTTTACTAAAAAAAAAAAAAAAAAAATTAGCTGGACATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGTAGGCTGAGGCAGGAGAATCACTTGAACCCGAGGTGGAGGTTGTAGTGAGCCGAGATCGTGCCATTGGACTCCAGCCTGGGCGACACAGTGAGACATCATCTCAAAAAAAATAAACAAATAAAAATAAATTTAAAAGGCTTGTGTTTATGGGCTTCAATCTTCTCTGGATGTCCCTCTGGGTTAGAACAAAAATTTTTTGCAAAATCTTTACTGGGAAATGGATCTGGTGAAACCTCCAGGGAGGGCAAACCTAGGTAGATCAATCATAAAAAAATTTCTCTCGATCCTCACTCTGTACAAGGATTGCTCCCAATCACTGCATTTCCTGCAAGGAGTGGGTTTTCAAGAAGAGACTGGAAGGGAATGGCCACAACCACATTTGGTCTGGGAAATGGTGATGTTCCTCAAAGCAAGTGCCACCAGCTATTCTTTCATCTAACACCTACTGAATAGAGATGGCTATGTGCATTCCCTGCCGGCCCGCCCACTGCAGCGAACAGGATGCTGCACCTGAAGGGAAACACCTAGTTCTGAGCCATGGGGGACCAACCCATCTGTCACAATCATCACAACTTGCAGCTCTGCCCTCAAACCTGCCCAGCTCCCACTCTGAGTTAAGAGAGACTTCTACAAGGATCAAGCAGAACTAAAGAACTAATGATCAAGACCCCTCCAGAAATACCTCCAAGCTAAAGATAGGCGACATAGGGCCATGTTATCTCTTTTTTTAAAGACAGAGCATCATTCTGTTGCCTAGACTGGAGCGCAGTGGCATGACTGTGGCTCACTGTAGCCTCAACCTCCCAGGCTCAAGCCGTCCTCCCAACTCAGCCTCCAGAGTGGCTAAGACCACAGGTGCCCGCCACCATGCCTGGCTATTTTTATTTTTTGTAGAGATGGGGGTCCCATTATATTGCCCAGGCTGGTCTTAAACTCTTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCTCAAAGTGCTGGGACTACAGGCGTGAGCCACTATGCCTGGTCTATTTATTTCTTTAATTCCCTTTCTTACTTTCTCTTAAGCTACACAGTGAGAGCTTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGCACAGTGGCATGATCTCAGCACACTGCAACCTCCACCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACGCAACACTACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGTCAGGATGGTTTTGATCTCTTGACCTCGTGATCCGCCCGCTTGGCCTCCCAAAATGCTGGGATTATGGGCATGAACCACCGCGCCTCGCCAGTGAGAGCTTTTTCATCTCAGTGAAAGGAGTAGGACATTTTTGCCAAGAAGAGAACAGCAAACACACAGATTCTCTTCTGAGTTTTAATCCACGGTCCCTCGATTTCTGCCTAATTCAGGGAGTAATTCAACTAAAAGAAAGGCAGCTGTCAAAAGAATTGAGGGCTTCTTTTACCTGCACAGCCAAGAGCATCTGGTAAAAATAGAGCTTGCAGGTAGCTTCTTTCAGGCGTTTATTCCCCACCACTTTGTCAAACAGCTCTCCCCCTTCCATCCTGAAACACAAAGGCAAGGCAAGGGGTTCATTCCTGGGGGAAAACGCAC → T