Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Lys618del (p.K618del)
(
ENST00000539477.6,
ENST00000536378.5,
ENST00000458205.6,
ENST00000456676.7,
ENST00000455445.6,
ENST00000450420.6,
ENST00000231790.8,
ENST00000435176.5,
ENST00000441265.6,
ENST00000466900.6,
ENST00000485889.2,
ENST00000492474.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000673990.2,
ENST00000674019.1,
ENST00000713802.1 )
MLH1 p.Lys618del (p.K618del) ( 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 two cases of microsatellite-unstable colorectal cancer was confirmed to be somatic in a patient with suspected Lynch Syndrome (LS). The patient was therefore negative for LS. However, based on this study we can infer that the variant would predispose to LS in a germline setting. Both patients harbored a second MLH1 mutation (c.790+1G > A and p.M1L, respectively).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1796
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3532
- Variant URL
- https://civic.genome.wustl.edu/links/variants/733
- Rating
- 2
- Evidence Type
- Predisposing
- Disease
- Lynch Syndrome
- Evidence Direction
- Supports
- Evidence Level
- E
- Clinical Significance
- Uncertain Significance
- Pubmed
- 25111426
Drugs