Variant "BRCA1:c.3548A>G(p.Lys1183Arg)"
Search results: 2 records
Variant information
Gene:
BRCA1 
Variant:
BRCA1:c.3548A>G(p.Lys1183Arg) 
Genomic location:
chr17:41244000(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_007300.3:c.3548A>G(p.Lys1183Arg)
protein_coding NM_007294.3:c.3548A>G(p.Lys1183Arg)
protein_coding NM_007297.3:c.3407A>G(p.Lys1136Arg)
protein_coding NM_007298.3:c.788-951A>G
protein_coding NM_007299.3:c.788-951A>G
pseudogene NR_027676.1:n.3684A>G
show all
dbSNP ID:
rs16942  
GWAS trait:
no data 
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.