Annotation Detail
Information
- Associated Genes
- PALB2
- Associated Variants
-
PALB2 p.Leu531CysfsTer30 (p.L531Cfs*30)
(
ENST00000566069.6,
ENST00000697379.2,
ENST00000261584.9,
ENST00000697376.1,
ENST00000561514.3,
ENST00000697383.1,
ENST00000568219.5,
ENST00000697374.1,
ENST00000697377.2,
ENST00000713774.1 )
PALB2 p.Leu531CysfsTer30 (p.L531Cfs*30) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 ) - Associated Disease
- hereditary breast ovarian cancer syndrome
- Source Database
- ClinVar
- Description
- NM_024675.4(PALB2):c.1592del (p.Leu531fs) AND Hereditary breast ovarian cancer syndrome
- ClinVar Allele ID
- 132119
- ClinVar RefSeq Alternation Syntax
- NM_024675.4:c.1592del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003155913
- ClinVar Disease
- Hereditary breast ovarian cancer syndrome
- Observed Origin Sample
- germline
Drugs