Variant "BRCA1:c.713T>G(p.Leu238Trp)"
Search results: 2 records
Variant information
Gene:
BRCA1 
Variant:
BRCA1:c.713T>G(p.Leu238Trp) 
Genomic location:
chr19:17394124(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_152363.5:c.713T>G(p.Leu238Trp)
protein_coding NM_001278444.1:c.713T>G(p.Leu238Trp)
protein_coding NM_001278443.1:c.680T>G(p.Leu227Trp)
protein_coding NM_001278445.1:c.617T>G(p.Leu206Trp)
protein_coding NM_001033549.2:c.*4267T>G
protein_coding NM_001288756.1:c.*4267T>G
protein_coding NM_001288757.1:c.*4267T>G
protein_coding NM_014173.3:c.*4267T>G
pseudogene NR_103530.1:n.827T>G
show all
dbSNP ID:
rs2363956  
GWAS trait:
triple-negative breast cancer,breast carcinoma,ovarian carcinoma 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered onset time(2)  
Details：
  • Target disease:
    Breast Cancer (DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Ten variants were found to be significantly associated with early onset cancer
    Reference:
    PMID26052370
    Title:
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    Species studied:
    Human
    Abstract:
    Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease.
  • Target disease:
    Ovarian Cancer (DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Ten variants were found to be significantly associated with early onset cancer
    Reference:
    PMID26052370
    Title:
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series.
    Species studied:
    Human
    Abstract:
    Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease.