Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Thr117Met (p.T117M)
(
ENST00000455445.6,
ENST00000485889.2,
ENST00000492474.6,
ENST00000539477.6,
ENST00000536378.5,
ENST00000231790.8,
ENST00000435176.5,
ENST00000466900.6,
ENST00000441265.6,
ENST00000456676.7,
ENST00000458205.6,
ENST00000450420.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000673990.2,
ENST00000674019.1,
ENST00000713802.1 )
MLH1 p.Thr117Met (p.T117M) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 ) - Associated Disease
- Lynch syndrome
- Source Database
- CIViC Evidence
- Description
- This variant, identified in three cases of microsatellite-unstable colorectal cancer was confirmed to be somatic in patients with suspected Lynch Syndrome (LS). The patients were therefore negative for LS. However, based on this study we can infer that the variant would predispose to LS in a germline setting. Two patients had loss of heterozygosity effecting the wildtype allele while one patient harbored a second MLH1 mutation (p.I68S).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1806
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3532
- Variant URL
- https://civic.genome.wustl.edu/links/variants/743
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Lynch Syndrome
- Evidence Direction
- Supports
- Evidence Level
- E
- Clinical Significance
- Uncertain Significance
- Pubmed
- 25111426
Drugs