Variant · Deletion

GATA2 NM_001145661.1(GATA2):c.-200_871+527del2032

CI-VAR-00006686Explore in graph →NM_001145661.1:c.-200_871+527del2032ClinVar 29712

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
29712	Pathogenic	criteria provided, single submitter	1	Monocytopenia with susceptibility to infections; GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia syndrome	germline	2	Jul 06, 2021	clinvar

Nomenclature

Record

Gene: GATA2
Type: Deletion
HGVS c.: NM_001145661.1:c.-200_871+527del2032
Assembly: GRCh38
Position: chr3:128485199-128487231
Ref / Alt: TCTCCCGAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAGGGTCAGGAGACACTTCTTTGGGTGGCGTGGGTGGGAAGCCGAAAAGGTGGGAGCCAGAGTGGGCTGCTGTAGGGGTGAGGGAGGCCACTGAGCTCCCGCTGCCTCCCCCGCTCCCACCCCCAGCCCCTGGGTACACAGAGAGTGGGCCTCCAGGGCCTCCAGCAGCTGAGGGGTGCAGTGGCGTCTTGGAGAAGGGGCTCACGGTCCAGGGGTTGTGGTGGTGGGCCGCAGCGGCAGAGAGGGCTGCTTTGCCCCCGTCCAGCCAGGGCAAACCCGGGCTGTGCAACAAGTGTGGGCGGCACATCTGGCCTCCGGTCAGGCGGGCTGCGGGCAAAGAGAGAGAGGATCAGGGTGGGCAGAAAGATCAGGGTAGGCAGAGCTAGGGACGCCCCTGACAGACATTGAGATCACGACTCCCAGAACCAGCAGTCATCCCCTCCCCAAAGAAAGCCAGAAACATAATACCCCACCGGTAATAATCAGGAATGTCAGTCCAAGCTGAAGGACAAGTGGCATAGAAGGAACCCCACCGGACAGACCCTACAGGGAACCCTCACAGGCCAGCTGGAAGTGGGCAGAAACCCTGTGGGTCCCAGACCCTCCCCAATCGGCCGCTGCTCCCACCTCTCCCGCCCCAATTTTTCAGCAGCTCGATTCCTGCGGATCCTACATCCGGGAAGCAAGCAGACGGGCCCTCCTCCCCTCCCTCGCCTGGCGCGCGGCGCCTGGGTTCTCATCACCACGGGCCCAGTGCTCACCGTGCGCGGGGCTGTAGGAGACGCGCGCCCGCGCGTGAGCGGGGTTGGCATAGTAGGGGTTGCCCTGCGAGTCGAGGTGATTGAAGAAGACGTCCACCTCGTCTGGAGGCAGCAGCTGCGCGGGTTCCATGTAGTTGTGCGCCAGGCCCGGGTGGTGTGAGTCGGGGTGCTGCGCATTCAGCACGGCCGGGTGCGCCATCCAGCGCGGCTGCTCGGGCGCCACCTCCATGGCCGGCGGCGGCGGCTCAGGGTCTGGGTGCAGACGGCAACGGCCCTGCGCGAGGAAGGGGGAGTGAGGCGTGCCGCCAGCGCCTGACACCCCCCAAAGTCCCACCACGAGGTGTCCCGCACGCCACGGAGCCCCAGCCCAGATCCGGCGAGAAAGAGCACCAGTCCCGGGTGGGAGGAAAGCCCAAGGCTCAAAACGAA → T