Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 p.? (p.?)
(
ENST00000484087.6,
ENST00000494123.6,
ENST00000478531.6,
ENST00000493795.5,
ENST00000473961.6,
ENST00000644555.2,
ENST00000468300.5,
ENST00000477152.6,
ENST00000352993.7,
ENST00000493919.6,
ENST00000591534.5,
ENST00000471181.7,
ENST00000497488.2,
ENST00000357654.9,
ENST00000461574.2,
ENST00000713676.1,
ENST00000644379.2,
ENST00000586385.5,
ENST00000618469.2,
ENST00000470026.6,
ENST00000491747.6,
ENST00000634433.2,
ENST00000591849.5,
ENST00000489037.2,
ENST00000700182.1,
ENST00000476777.6 )
BRCA1 p.? (p.?) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 ) - Associated Disease
- Breast-ovarian cancer, familial, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) AND Breast-ovarian cancer, familial, susceptibility to, 1
- ClinVar Allele ID
- 69739
- ClinVar RefSeq Alternation Syntax
- NM_001407669.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408476.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407672.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407654.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407626.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407978.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408400.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407991.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408448.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408443.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407682.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407973.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408451.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407860.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407616.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407664.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408438.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407687.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408396.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408433.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407611.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407634.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408415.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407646.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407983.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407597.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407937.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408435.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408407.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408441.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407582.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407667.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408398.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_007297.4:c.-85G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407662.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407621.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408402.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407875.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407624.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407618.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407659.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407590.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408413.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407613.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407690.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407689.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407981.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407940.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408430.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407684.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407986.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408418.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407862.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407614.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407859.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408421.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407605.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408412.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408403.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407623.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407975.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407642.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407985.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407633.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408437.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407976.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407581.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408440.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407670.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408422.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407639.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407858.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408409.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407652.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408447.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408444.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407919.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407594.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407658.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407649.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408450.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407677.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408392.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408419.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407861.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407585.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407683.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407674.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407591.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408475.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407680.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408428.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407941.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408431.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407979.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_007294.4:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407938.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408425.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407636.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408472.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407661.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407655.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408494.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407874.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407620.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408406.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408399.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407663.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407678.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NR_027676.2:n.205G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408439.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407969.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407617.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_007300.4:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407635.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407630.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407688.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407982.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407653.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408434.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407627.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407593.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407668.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407990.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407645.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408397.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407598.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407972.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407681.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407977.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407637.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407992.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407640.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408432.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407686.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407854.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407610.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_007298.4:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408416.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407665.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407615.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407671.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408411.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407970.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408495.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407632.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407673.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407648.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408429.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407939.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408424.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407602.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407666.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408427.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_007299.4:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407660.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408473.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407638.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407629.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408446.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407596.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407647.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407656.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408408.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407587.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407641.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407676.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407984.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408426.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408445.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408474.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407657.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_007304.2:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407628.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407675.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407631.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407622.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407974.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408404.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407980.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407971.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408420.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408423.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407603.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408414.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407612.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407679.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407685.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407644.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407993.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407691.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407863.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407619.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407968.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408442.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408401.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001408436.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407583.1:c.3G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407625.1:c.3G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-18
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000111552
- ClinVar Disease
- Breast-ovarian cancer, familial, susceptibility to, 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- not applicable
Drugs