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BRCA1 and BRCA2

From SNPedia

SNPedia currently contains 2664 BRCA1 SNPs and 3175 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% 18%
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
rs80357410BRCA1
NBR2
Ancestry v2
Ancestry v2c
255Familial cancer of breast
Breast-ovarian cancer, familial 1
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
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Hereditary cancer-predisposing syndrome
rs397507247BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs80358087BRCA1255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not provided
rs80357446BRCA1Ancestry v2c255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not specified
not provided
rs80357150BRCA1Ancestry v2255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80358344BRCA1Ancestry v2c255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs41293463BRCA123andMe v4
23andMe v3
23andMe v2
255Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
rs80357253BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
rs80357069BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
Familial cancer of breast
rs80358073BRCA1Ancestry v2c255Breast-ovarian cancer, familial 1
not provided
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
rs28897672BRCA123andMe v4
23andMe v3
23andMe v1
23andMe v2
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
rs80358030BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
rs431825413BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer, susceptibility to
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
rs80357382BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs80358038BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
rs80356988BRCA1Ancestry v2c255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80358165BRCA1Ancestry v2
Ancestry v2c
255Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80357061BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs273897657BRCA1Ancestry v2
23andMe v5
Ancestry v2c
255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs16942BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
23andMe v5
Ancestry v2c
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
rs80358145BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
rs80358050BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs398122699BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
rs80358051BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
rs41293455BRCA123andMe v4
Ancestry v2c
23andMe v3
23andMe v2
255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
not provided
not specified
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
rs41293459BRCA1HumanOmni1Quad255Familial cancer of breast
Breast-ovarian cancer, familial 1
not provided
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs4986852BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
23andMe v5
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs80357164BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
rs80356959BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs386833395BRCA1
NBR2
Ancestry v2255Breast-ovarian cancer, familial 1
Pancreatic cancer 4
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
rs80357112BRCA1Ancestry v2
Ancestry v2c
255Familial cancer of breast
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not specified
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
rs1799966BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2c
23andMe v3
FTDNA2
23andMe v1
23andMe v2
Illumina Human 1M
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
not provided
not specified
rs80357477BRCA1Ancestry v2
23andMe v5
Ancestry v2c
255Breast-ovarian cancer, familial 1
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast and ovarian cancer syndrome
rs80357498BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not provided
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
rs397509225BRCA1255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
rs80358054BRCA1Ancestry v2255Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
not provided
Hereditary breast and ovarian cancer syndrome
rs80356862BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
not provided
Hereditary cancer-predisposing syndrome
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
rs80358089BRCA1Ancestry v2
Ancestry v2c
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
rs80358015BRCA1Ancestry v2
23andMe v5
Ancestry v2c
255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
rs41293461BRCA123andMe v4
Ancestry v2c
23andMe v3
HumanOmni1Quad
255Familial cancer of breast
Breast-ovarian cancer, familial 1
Hereditary cancer-predisposing syndrome
rs1800709BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
23andMe v5
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
23andMe v2
Illumina Human 1M
255not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Familial cancer of breast
rs4986854BRCA1FamilyTreeDNA
23andMe v4
Ancestry v2
23andMe v5
Ancestry v2c
23andMe v3
FTDNA2
HumanOmni1Quad
23andMe v1
Illumina Human 1M
255not provided
Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
not specified
Neoplasm of breast
Hereditary cancer-predisposing syndrome
rs80357450BRCA1Ancestry v2
Ancestry v2c
255Hereditary breast and ovarian cancer syndrome
Breast-ovarian cancer, familial 1
rs80357389BRCA1255Breast-ovarian cancer, familial 1
Hereditary breast and ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not provided
not specified
Familial cancer of breast
... further results