KMT2D mutation

CI-VAR-00005007Explore in graph →CIViC 4768

Curated evidence

Evidence by cancer (7 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 1–7 of 7 evidence items across 5 cancer contexts 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
Burkitt Lymphoma1
KMT2D mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11835 More common in DLBCL but also mutated in BL PMID 30617194 · Grande et al., 2019 · Open in CIViC	civic
Diffuse Large B-Cell Lymphoma1
KMT2D mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	4	submitted	EID11836 One of the most common mutations in DLBCL PMID 21796119 · Morin et al., 2011 · Open in CIViC	civic
Lung Non-Small Cell Carcinoma

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Mantle Cell Lymphoma3
KMT2D mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11871 [the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the … (full text at CIViC) PMID 24145436 · Beà et al., 2013 · Open in CIViC	civic
KMT2D mutation	(oncogenic)	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11892 Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including KMT2D). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC	civic
KMT2D mutation	(prognostic)	Prognostic	E	Does Not Support Poor Outcome	3	submitted	EID11896 This study did not confirm a previous reported association between KMT2D mutation status and outcome (Supplemental Figure 5) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC	civic

Mantle Cell Lymphoma3

KMT2D mutation

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID11871

[the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the … (full text at CIViC)

PMID 24145436 · Beà et al., 2013 · Open in CIViC

civic

KMT2D mutation

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID11892

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including KMT2D).

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

civic

KMT2D mutation

(prognostic)

Prognostic

Does Not Support Poor Outcome

submitted

EID11896

This study did not confirm a previous reported association between KMT2D mutation status and outcome (Supplemental Figure 5)

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

civic

Melanoma1
KMT2C Mutation OR KMT2D mutation OR KMT2A Mutation OR KMT2B Mutation	Immune Checkpoint Inhibitor	Predictive	B	Supports Sensitivity Response	2	submitted	EID12592 In a retrospective pan-cancer analysis of four immune checkpoint therapy (ICT)–treated cohorts (melanoma n = 287; NSCLC n = 131; total n = 418), KMT2 family mutations were associated with improved ICT… (full text at CIViC) PMID 33653367 · Zhang et al., 2021 · Open in CIViC	civic

Melanoma1

KMT2C Mutation OR KMT2D mutation OR KMT2A Mutation OR KMT2B Mutation

Immune Checkpoint Inhibitor

Predictive

Supports Sensitivity Response

submitted

EID12592

In a retrospective pan-cancer analysis of four immune checkpoint therapy (ICT)–treated cohorts (melanoma n = 287; NSCLC n = 131; total n = 418), KMT2 family mutations were associated with improved ICT… (full text at CIViC)

PMID 33653367 · Zhang et al., 2021 · Open in CIViC

civic