Home > Gene Browser > MLH1

MLH1

Synonyms
COCA2, FCC2, HNPCC, HNPCC2, MMRCS1, hMLH1
External resources
Summary
The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC).

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
57
Likely pathogenic
8
VUS
7,114
Likely benign
5,332
Benign
47

Patient phenotypes

Proportions of phenotypes among 64 patients carrying pathogenic or likely pathogenic variants on MLH1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.4%
Abnormality of the musculoskeletal system
32.8%
Abnormality of head or neck
29.7%
Abnormality of the cardiovascular system
23.4%
Abnormality of the eye
21.9%
Abnormality of the integument
21.9%
Abnormality of the ear
18.8%
Abnormality of the genitourinary system
15.6%
Growth abnormality
10.9%
Abnormality of limbs
9.4%
Abnormality of the digestive system
9.4%
Abnormality of the respiratory system
6.3%
Neoplasm
6.3%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the endocrine system
4.7%
Abnormality of prenatal development or birth
3.1%
Abnormality of the immune system
3.1%
Abnormal cellular phenotype
1.6%
Constitutional symptom
1.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes