Annotation Detail
Information
- Associated Genes
- RAD51D RAD51L3-RFFL
- Associated Variants
-
RAD51D p.Gly309Ser (p.G309S), ENSG00000267618 p.Gly130Ser (p.G130S)
(
ENST00000345365.11,
ENST00000394589.8,
ENST00000460118.6,
ENST00000586186.3,
ENST00000587405.6,
ENST00000590016.6,
ENST00000592577.6,
ENST00000335858.11 )
RAD51D p.Gly309Ser (p.G309S), ENSG00000267618 p.Gly130Ser (p.G130S) ( ENST00000335858.11, ENST00000345365.11, ENST00000394589.8, ENST00000460118.6, ENST00000586186.3, ENST00000587405.6, ENST00000590016.6, ENST00000592577.6 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 151659
- ClinVar RefSeq Alternation Syntax
- NM_133629.3:c.529G>A
- ClinVar RefSeq Alternation Syntax
- NM_002878.4:c.865G>A
- ClinVar RefSeq Alternation Syntax
- NR_037712.2:n.756G>A
- ClinVar RefSeq Alternation Syntax
- NR_037714.1:n.617G>A
- ClinVar RefSeq Alternation Syntax
- NR_037711.2:n.891G>A
- ClinVar RefSeq Alternation Syntax
- NM_001142571.2:c.925G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-01-24
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000130672
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs