ATM K468FS

CI-VAR-00002129Explore in graph →NP_000042.3:p.Lys468GlufsNM_000051.3:c.1402_1403delAAClinVar 140889 CIViC 1166 rs587781347

Curated evidence

Evidence by cancer (1 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.

civicCuratedShowing 1–1 of 1 evidence items across 1 cancer context on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Chronic Lymphocytic Leukemia1
ATM K468FS	Doxorubicin	Predictive	D	Does Not Support Resistance	2	accepted	EID2843 Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K468FS variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC	civic

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
140889	Pathogenic	reviewed by expert panel	3	Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome; Familial cancer of breast; Breast and/or ovarian cancer; ATM-related disorder; ATM-related cancer predisposition; Familial colorectal cancer type X	germline	31	Nov 26, 2024	clinvar