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KMT2C

Synonyms
HALR, KLEFS2, MLL3
External resources
Summary
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
16,174
Likely pathogenic
20,576
VUS
291,481
Likely benign
380,005
Benign
12,587

Patient phenotypes

Proportions of phenotypes among 18130 patients carrying pathogenic or likely pathogenic variants on KMT2C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
25.2%
Abnormality of the eye
20.3%
Abnormality of the cardiovascular system
19.5%
Abnormality of head or neck
19.3%
Abnormality of the ear
12.7%
Growth abnormality
11.6%
Abnormality of the integument
10.1%
Abnormality of the genitourinary system
9.8%
Abnormality of limbs
9.6%
Abnormality of the digestive system
7.1%
Abnormality of the immune system
6.2%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of the endocrine system
4%
Abnormality of the respiratory system
3.4%
Neoplasm
2.6%
Abnormality of prenatal development or birth
2.3%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.6%
Abnormality of the voice
0.4%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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