Annotation Detail
Information
- Associated Genes
- PMS2
- Associated Variants
-
PMS2 p.Asn786Ser (p.N786S)
(
ENST00000265849.12,
ENST00000382321.5,
ENST00000642292.1,
ENST00000642456.1,
ENST00000699752.1,
ENST00000699754.1,
ENST00000699760.1,
ENST00000699761.1,
ENST00000699762.1,
ENST00000699766.1,
ENST00000699768.1,
ENST00000699811.1,
ENST00000699818.1,
ENST00000699821.1,
ENST00000699823.1,
ENST00000699825.1,
ENST00000699827.1,
ENST00000699837.1,
ENST00000699839.1,
ENST00000699840.2,
ENST00000699930.2 )
PMS2 p.Asn786Ser (p.N786S) ( ENST00000265849.12, ENST00000382321.5, ENST00000642292.1, ENST00000642456.1, ENST00000699752.1, ENST00000699754.1, ENST00000699760.1, ENST00000699761.1, ENST00000699762.1, ENST00000699766.1, ENST00000699768.1, ENST00000699811.1, ENST00000699818.1, ENST00000699821.1, ENST00000699823.1, ENST00000699825.1, ENST00000699827.1, ENST00000699837.1, ENST00000699839.1, ENST00000699840.2, ENST00000699930.2 ) - Associated Disease
- Lynch syndrome 4 Mismatch repair cancer syndrome 1
- Source Database
- ClinVar
- Description
- NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) AND multiple conditions
- ClinVar Allele ID
- 45350
- ClinVar RefSeq Alternation Syntax
- NR_136154.1:n.2368A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322004.2:c.1919A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322003.2:c.1919A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322005.2:c.1919A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322008.2:c.2006A>G
- ClinVar RefSeq Alternation Syntax
- NM_000535.7:c.2324A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322007.2:c.2006A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322006.2:c.2168A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322009.2:c.1952A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322015.2:c.2015A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322011.2:c.1391A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322012.2:c.1391A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322014.2:c.2357A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322010.2:c.1763A>G
- ClinVar RefSeq Alternation Syntax
- NM_001322013.2:c.1751A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000755648
- ClinVar Disease
- Lynch syndrome 4
- ClinVar Disease
- Mismatch repair cancer syndrome 1
- Observed Origin Sample
- unknown
Drugs