GENE REFERENCE / HGNC:7329

MSH6

mutS homolog 6

protein-coding gene2p16.3Gene information

What does this gene do?

The MSH6 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps correct errors that are made when DNA is copied in preparation for cell division, a process called DNA replication. The MSH6 protein joins with another protein called MSH2 to form a two-protein complex called a dimer. This complex identifies locations where errors have been made during DNA replication. The MSH2-MSH6 dimer, together with another dimer and additional proteins, makes the repairs by replacing the section of DNA that contains an error with a corrected DNA sequence. The MSH6 gene is one of a set of genes called mismatch repair (MMR) genes.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-05-12. Source review: 2025-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
mismatch repair cancer syndrome 1MONDO:0010159 · Evaluated 2018-10-09	Autosomal recessive	DefinitiveHereditary Cancer Gene Curation Expert Panel
Lynch syndromeMONDO:0005835 · Evaluated 2023-07-05	Autosomal dominant	DefinitiveHereditary Cancer Gene Curation Expert Panel
hereditary breast carcinomaMONDO:0016419 · Evaluated 2023-12-21	Autosomal dominant	DisputedHereditary Cancer Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 10,835
Submissions for variants in or overlapping this gene: 31,318
Submissions explicitly reporting this gene: 30,969
Alleles reported pathogenic / likely pathogenic: 2,398
VariationIDs with uncertain significance: 4,575
VariationIDs with conflicting classifications: 1,243

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MSH6?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 2,398 alleles in MSH6 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MSH6.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →