Variant "BRCA1:c.5123C>A(p.Ala604Val)"
Search results: 2 records
Variant information
Gene:
BRCA1 
Variant:
BRCA1:c.5123C>A(p.Ala604Val) 
Genomic location:
chr17:41215920(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_007298.3:c.1811C>T(p.Ala604Val)
protein_coding NM_007299.3:c.1811C>T(p.Ala604Val)
protein_coding NM_007300.3:c.5186C>T(p.Ala1729Val)
protein_coding NM_007294.3:c.5123C>T(p.Ala1708Val)
protein_coding NM_007297.3:c.4982C>T(p.Ala1661Val)
pseudogene NR_027676.1:n.5259C>T
show all
dbSNP ID:
rs28897696  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Target disease:
    Breast Cancer (DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Frequently observed mutations 
    Effect:
    Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
    Reference:
    PMID29446198
    Title:
    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
    Species studied:
    Human
    Abstract:
    The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
  • Target disease:
    Ovarian Cancer (DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Frequently observed mutations 
    Effect:
    Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
    Reference:
    PMID29446198
    Title:
    Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
    Species studied:
    Human
    Abstract:
    The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.