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BRCA1 and BRCA2

From SNPedia

SNPedia currently contains 2663 BRCA1 SNPs and 3155 BRCA2 SNPs. Some of the variations in these genes are linked to Breast cancer and ovarian cancer, and other variations are benign. See also BRCA1 and BRCA2 for individual gene discussions and links.

Microarray platforms used by DTC genomics testing companies such as FamilyTree DNA and 23andMe usually test a fraction of the known BRCA1 or BRCA2 SNPs, typically, the most common ones. While DTC genomics testing may lead to useful results, it is not a substitute for the full genetic panel testing or gene sequencing that may be warranted by a family history of breast cancer. This webpage from the Jackson Laboratory contains three important tips to know about direct-to-consumer BRCA1/2 testing.

The percent of known BRCA1 and BRCA2 syndrome disease-causing mutations that are tested by several companies is shown in the following table:

SNP % is based on # of magnitude 5+ SNPs on chip vs in SNPedia (unadjusted for mutation frequency)
Gene
Company & chip version BRCA1 BRCA2
23andMe v4
1% 0%
23andMe v5 12% 19%
Ancestry v2
51% 48%


The SNP list below shows which microarray platforms test for each SNP, along with that SNP's ClinVar significance and disease association; note that the most meaningful categories are CLNSIG 4 and 5, for "likely pathogenic" and "pathogenic", respectively, whereas 255 just means there's conflicting info:

 In geneOn microarrayClinVar CLNSIGClinVar CLNDBN
rs80357061BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs16942BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
Ancestry v2
23andMe v5
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs431825413BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs80357498BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80357112BRCA1Ancestry v2255Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not specified
rs80358062BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
not specified
rs80358030BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
rs80357064BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Familial cancer of breast
rs80357164BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs41293455BRCA123andMe v2
23andMe v3
23andMe v4
255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
not provided
not specified
rs4986852BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
Ancestry v2
23andMe v5
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs80357522BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Neoplasm of breast
rs45553935BRCA123andMe v3
23andMe v4
255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs41293461BRCA123andMe v3
HumanOmni1Quad
23andMe v4
255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
rs80357906BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Neoplasm of breast
Ovarian neoplasm
rs398122699BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
rs80357450BRCA1Ancestry v2255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
rs80358050BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs1800751BRCA123andMe v2
23andMe v3
23andMe v4
255Breast-ovarian cancer, familial 1
Familial cancer of breast
not provided
rs80358089BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80357069BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Familial cancer of breast
rs80356959BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs41293459BRCA1HumanOmni1Quad255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80358051BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
rs1799966BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
23andMe v4
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
not specified
rs80357442BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast and ovarian cancer syndrome
rs80357087BRCA1Ancestry v2255not provided
not specified
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast and ovarian cancer syndrome
Breast carcinoma
rs80356929NBR2
BRCA1
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80357093BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
rs80357104BRCA1Ancestry v2255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs28897672BRCA123andMe v1
23andMe v2
23andMe v3
23andMe v4
Illumina Human 1M
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Neoplasm of breast
Breast carcinoma
rs80357382BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs1799967BRCA123andMe v1
23andMe v2
23andMe v3
Illumina Human 1M
23andMe v4
Ancestry v2
23andMe v5
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs397509211BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs1800709BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
Ancestry v2
23andMe v5
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs80187739BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
rs80357474BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
rs80356937BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80358038BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
rs397509231BRCA1255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
rs80358145BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
rs397507246BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs1799950BRCA123andMe v1
Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
Ancestry v2
23andMe v5
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Hereditary cancer-predisposing syndrome
Ductal breast carcinoma
Familial cancer of breast
rs80357123BRCA1Ancestry v2255Hereditary breast and ovarian cancer syndrome
not provided
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Neoplasm of breast
rs80356988BRCA1255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80357713BRCA1
NBR2
255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
rs80357253BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
rs80357107BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Familial cancer of breast
not provided
rs4986850BRCA1Illumina Human 1M
23andMe v2
23andMe v3
FTDNA2
FamilyTreeDNA
HumanOmni1Quad
23andMe v4
255Breast-ovarian cancer, familial 1
not provided
Hereditary breast and ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs80356862BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
Hereditary cancer-predisposing syndrome
... further results