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BRCA1 and BRCA2

From SNPedia

SNPedia currently contains 2654 BRCA1 SNPs and 3151 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 15% 23%
Ancestry v2
54% 49%


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
rs80357253BRCA1Ancestry v2
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
rs28897686BRCA123andMe v4
23andMe v3
23andMe v1
23andMe v2
Illumina Human 1M
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Neoplasm of breast
rs80356929BRCA1
NBR2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80356862BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
Hereditary cancer-predisposing syndrome
rs80358089BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs398122699BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
rs80357093BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
rs41293461BRCA123andMe v4
Ancestry v2c
23andMe v3
HumanOmni1Quad
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
rs397507246BRCA1Ancestry v2
Ancestry v2d
255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs1800709BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
23andMe v5
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
Ancestry v2d
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs80358344BRCA1Ancestry v2c
Ancestry v2d
255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs80357450BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
rs80357389BRCA1Ancestry v2d255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
not specified
Familial cancer of breast
rs80357522BRCA1Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Neoplasm of breast
rs1800751BRCA123andMe v4
23andMe v3
23andMe v2
255Breast-ovarian cancer, familial 1
Familial cancer of breast
not provided
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
rs1799950BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
23andMe v5
Ancestry v2c
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
Ancestry v2d
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
rs80357104BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs80358064BRCA1Ancestry v2
23andMe v5
Ancestry v2c
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80357410BRCA1
NBR2
Ancestry v2
Ancestry v2c
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80358053BRCA1Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Familial cancer of breast
not provided
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs80357107BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Familial cancer of breast
not provided
rs28897696BRCA123andMe v4
23andMe v3
23andMe v1
23andMe v2
Illumina Human 1M
255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast and ovarian cancer syndrome
not specified
not provided
Neoplasm of breast
Familial cancer of breast
rs796856605BRCA1
NBR2
255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs397507247BRCA1Ancestry v2
Ancestry v2d
255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs4986850BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2c
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v2
Illumina Human 1M
Ancestry v2d
255Breast-ovarian cancer, familial 1
not provided
Hereditary breast and ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs80357474BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
rs80357446BRCA1Ancestry v2c
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not specified
not provided
rs80356937BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs41293459BRCA1HumanOmni1Quad255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80357123BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Hereditary breast and ovarian cancer syndrome
not provided
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Neoplasm of breast
rs80358086BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
Hereditary breast and ovarian cancer syndrome
rs80357150BRCA1Ancestry v2
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80358073BRCA1Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
not provided
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
rs80358030BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
rs45553935BRCA123andMe v4
23andMe v3
255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs799917BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
Ancestry v2c
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
Ancestry v2d
255not provided
Breast-ovarian cancer, familial 1
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80358345BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs80357783BRCA1
NBR2
Ancestry v2
Ancestry v2d
255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
Neoplasm of breast
rs273897657BRCA1Ancestry v2
23andMe v5
Ancestry v2c
Ancestry v2d
255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80357064BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Familial cancer of breast
rs80358165BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80187739BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
rs397509231BRCA1255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
rs80358050BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80357094BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs2227945BRCA123andMe v4
Ancestry v2
23andMe v5
Ancestry v2c
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
Ancestry v2d
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Hereditary cancer-predisposing syndrome
rs80358054BRCA1Ancestry v2
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
Hereditary breast and ovarian cancer syndrome
rs80358015BRCA1Ancestry v2
23andMe v5
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
rs273899694BRCA1Ancestry v2
Ancestry v2c
Ancestry v2d
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
... further results