NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (11 submissions)
- Last evaluated:
- Aug 10, 2015
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000077483.22
Allele description [Variation Report for NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)]
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)
- HGVS:
- NC_000017.11:g.43115745A>G
- NG_005905.2:g.102239T>C
- NM_001407571.1:c.-74T>C
- NM_001407581.1:c.115T>C
- NM_001407582.1:c.115T>C
- NM_001407583.1:c.115T>C
- NM_001407585.1:c.115T>C
- NM_001407587.1:c.115T>C
- NM_001407590.1:c.115T>C
- NM_001407591.1:c.115T>C
- NM_001407593.1:c.115T>C
- NM_001407594.1:c.115T>C
- NM_001407596.1:c.115T>C
- NM_001407597.1:c.115T>C
- NM_001407598.1:c.115T>C
- NM_001407602.1:c.115T>C
- NM_001407603.1:c.115T>C
- NM_001407605.1:c.115T>C
- NM_001407610.1:c.115T>C
- NM_001407611.1:c.115T>C
- NM_001407612.1:c.115T>C
- NM_001407613.1:c.115T>C
- NM_001407614.1:c.115T>C
- NM_001407615.1:c.115T>C
- NM_001407616.1:c.115T>C
- NM_001407617.1:c.115T>C
- NM_001407618.1:c.115T>C
- NM_001407619.1:c.115T>C
- NM_001407620.1:c.115T>C
- NM_001407621.1:c.115T>C
- NM_001407622.1:c.115T>C
- NM_001407623.1:c.115T>C
- NM_001407624.1:c.115T>C
- NM_001407625.1:c.115T>C
- NM_001407626.1:c.115T>C
- NM_001407627.1:c.115T>C
- NM_001407628.1:c.115T>C
- NM_001407629.1:c.115T>C
- NM_001407630.1:c.115T>C
- NM_001407631.1:c.115T>C
- NM_001407632.1:c.115T>C
- NM_001407633.1:c.115T>C
- NM_001407634.1:c.115T>C
- NM_001407635.1:c.115T>C
- NM_001407636.1:c.115T>C
- NM_001407637.1:c.115T>C
- NM_001407638.1:c.115T>C
- NM_001407639.1:c.115T>C
- NM_001407640.1:c.115T>C
- NM_001407641.1:c.115T>C
- NM_001407642.1:c.115T>C
- NM_001407644.1:c.115T>C
- NM_001407645.1:c.115T>C
- NM_001407646.1:c.115T>C
- NM_001407647.1:c.115T>C
- NM_001407648.1:c.115T>C
- NM_001407649.1:c.115T>C
- NM_001407652.1:c.115T>C
- NM_001407653.1:c.115T>C
- NM_001407654.1:c.115T>C
- NM_001407655.1:c.115T>C
- NM_001407656.1:c.115T>C
- NM_001407657.1:c.115T>C
- NM_001407658.1:c.115T>C
- NM_001407659.1:c.115T>C
- NM_001407660.1:c.115T>C
- NM_001407661.1:c.115T>C
- NM_001407662.1:c.115T>C
- NM_001407663.1:c.115T>C
- NM_001407664.1:c.115T>C
- NM_001407665.1:c.115T>C
- NM_001407666.1:c.115T>C
- NM_001407667.1:c.115T>C
- NM_001407668.1:c.115T>C
- NM_001407669.1:c.115T>C
- NM_001407670.1:c.115T>C
- NM_001407671.1:c.115T>C
- NM_001407672.1:c.115T>C
- NM_001407673.1:c.115T>C
- NM_001407674.1:c.115T>C
- NM_001407675.1:c.115T>C
- NM_001407676.1:c.115T>C
- NM_001407677.1:c.115T>C
- NM_001407678.1:c.115T>C
- NM_001407679.1:c.115T>C
- NM_001407680.1:c.115T>C
- NM_001407681.1:c.115T>C
- NM_001407682.1:c.115T>C
- NM_001407683.1:c.115T>C
- NM_001407684.1:c.115T>C
- NM_001407685.1:c.115T>C
- NM_001407686.1:c.115T>C
- NM_001407687.1:c.115T>C
- NM_001407688.1:c.115T>C
- NM_001407689.1:c.115T>C
- NM_001407690.1:c.115T>C
- NM_001407691.1:c.115T>C
- NM_001407694.1:c.-143T>C
- NM_001407695.1:c.-147T>C
- NM_001407696.1:c.-143T>C
- NM_001407697.1:c.-27T>C
- NM_001407724.1:c.-143T>C
- NM_001407725.1:c.-27T>C
- NM_001407727.1:c.-143T>C
- NM_001407728.1:c.-27T>C
- NM_001407729.1:c.-27T>C
- NM_001407730.1:c.-27T>C
- NM_001407731.1:c.-143T>C
- NM_001407733.1:c.-143T>C
- NM_001407734.1:c.-27T>C
- NM_001407735.1:c.-27T>C
- NM_001407737.1:c.-27T>C
- NM_001407739.1:c.-27T>C
- NM_001407740.1:c.-27T>C
- NM_001407741.1:c.-27T>C
- NM_001407743.1:c.-27T>C
- NM_001407745.1:c.-27T>C
- NM_001407746.1:c.-143T>C
- NM_001407748.1:c.-27T>C
- NM_001407749.1:c.-143T>C
- NM_001407752.1:c.-27T>C
- NM_001407838.1:c.-27T>C
- NM_001407839.1:c.-27T>C
- NM_001407841.1:c.-23T>C
- NM_001407842.1:c.-143T>C
- NM_001407843.1:c.-143T>C
- NM_001407844.1:c.-27T>C
- NM_001407846.1:c.-27T>C
- NM_001407847.1:c.-27T>C
- NM_001407848.1:c.-27T>C
- NM_001407850.1:c.-27T>C
- NM_001407851.1:c.-27T>C
- NM_001407853.1:c.-74T>C
- NM_001407854.1:c.115T>C
- NM_001407858.1:c.115T>C
- NM_001407859.1:c.115T>C
- NM_001407860.1:c.115T>C
- NM_001407861.1:c.115T>C
- NM_001407862.1:c.115T>C
- NM_001407863.1:c.115T>C
- NM_001407874.1:c.115T>C
- NM_001407875.1:c.115T>C
- NM_001407879.1:c.-74T>C
- NM_001407882.1:c.-74T>C
- NM_001407884.1:c.-74T>C
- NM_001407885.1:c.-74T>C
- NM_001407886.1:c.-74T>C
- NM_001407887.1:c.-74T>C
- NM_001407889.1:c.-190T>C
- NM_001407894.1:c.-74T>C
- NM_001407895.1:c.-74T>C
- NM_001407896.1:c.-74T>C
- NM_001407897.1:c.-74T>C
- NM_001407899.1:c.-74T>C
- NM_001407900.1:c.-190T>C
- NM_001407904.1:c.-74T>C
- NM_001407906.1:c.-74T>C
- NM_001407907.1:c.-74T>C
- NM_001407908.1:c.-74T>C
- NM_001407909.1:c.-74T>C
- NM_001407910.1:c.-74T>C
- NM_001407915.1:c.-74T>C
- NM_001407916.1:c.-74T>C
- NM_001407917.1:c.-74T>C
- NM_001407918.1:c.-74T>C
- NM_001407919.1:c.115T>C
- NM_001407920.1:c.-27T>C
- NM_001407921.1:c.-27T>C
- NM_001407922.1:c.-27T>C
- NM_001407923.1:c.-27T>C
- NM_001407926.1:c.-27T>C
- NM_001407927.1:c.-27T>C
- NM_001407930.1:c.-143T>C
- NM_001407933.1:c.-27T>C
- NM_001407934.1:c.-27T>C
- NM_001407935.1:c.-27T>C
- NM_001407937.1:c.115T>C
- NM_001407938.1:c.115T>C
- NM_001407939.1:c.115T>C
- NM_001407940.1:c.115T>C
- NM_001407941.1:c.115T>C
- NM_001407942.1:c.-143T>C
- NM_001407943.1:c.-27T>C
- NM_001407944.1:c.-27T>C
- NM_001407946.1:c.-74T>C
- NM_001407947.1:c.-74T>C
- NM_001407948.1:c.-74T>C
- NM_001407949.1:c.-74T>C
- NM_001407950.1:c.-74T>C
- NM_001407951.1:c.-74T>C
- NM_001407952.1:c.-74T>C
- NM_001407953.1:c.-74T>C
- NM_001407954.1:c.-74T>C
- NM_001407955.1:c.-74T>C
- NM_001407956.1:c.-74T>C
- NM_001407957.1:c.-74T>C
- NM_001407958.1:c.-74T>C
- NM_001407960.1:c.-189T>C
- NM_001407962.1:c.-189T>C
- NM_001407964.1:c.-27T>C
- NM_001407965.1:c.-305T>C
- NM_001407968.1:c.115T>C
- NM_001407969.1:c.115T>C
- NM_001407970.1:c.115T>C
- NM_001407971.1:c.115T>C
- NM_001407972.1:c.115T>C
- NM_001407973.1:c.115T>C
- NM_001407974.1:c.115T>C
- NM_001407975.1:c.115T>C
- NM_001407976.1:c.115T>C
- NM_001407977.1:c.115T>C
- NM_001407978.1:c.115T>C
- NM_001407979.1:c.115T>C
- NM_001407980.1:c.115T>C
- NM_001407981.1:c.115T>C
- NM_001407982.1:c.115T>C
- NM_001407983.1:c.115T>C
- NM_001407984.1:c.115T>C
- NM_001407985.1:c.115T>C
- NM_001407986.1:c.115T>C
- NM_001407990.1:c.115T>C
- NM_001407991.1:c.115T>C
- NM_001407992.1:c.115T>C
- NM_001407993.1:c.115T>C
- NM_001408392.1:c.115T>C
- NM_001408396.1:c.115T>C
- NM_001408397.1:c.115T>C
- NM_001408398.1:c.115T>C
- NM_001408399.1:c.115T>C
- NM_001408400.1:c.115T>C
- NM_001408401.1:c.115T>C
- NM_001408402.1:c.115T>C
- NM_001408403.1:c.115T>C
- NM_001408404.1:c.115T>C
- NM_001408406.1:c.115T>C
- NM_001408407.1:c.115T>C
- NM_001408408.1:c.115T>C
- NM_001408409.1:c.115T>C
- NM_001408410.1:c.-27T>C
- NM_001408411.1:c.115T>C
- NM_001408412.1:c.115T>C
- NM_001408413.1:c.115T>C
- NM_001408414.1:c.115T>C
- NM_001408415.1:c.115T>C
- NM_001408416.1:c.115T>C
- NM_001408418.1:c.115T>C
- NM_001408419.1:c.115T>C
- NM_001408420.1:c.115T>C
- NM_001408421.1:c.115T>C
- NM_001408422.1:c.115T>C
- NM_001408423.1:c.115T>C
- NM_001408424.1:c.115T>C
- NM_001408425.1:c.115T>C
- NM_001408426.1:c.115T>C
- NM_001408427.1:c.115T>C
- NM_001408428.1:c.115T>C
- NM_001408429.1:c.115T>C
- NM_001408430.1:c.115T>C
- NM_001408431.1:c.115T>C
- NM_001408432.1:c.115T>C
- NM_001408433.1:c.115T>C
- NM_001408434.1:c.115T>C
- NM_001408435.1:c.115T>C
- NM_001408436.1:c.115T>C
- NM_001408437.1:c.115T>C
- NM_001408438.1:c.115T>C
- NM_001408439.1:c.115T>C
- NM_001408440.1:c.115T>C
- NM_001408441.1:c.115T>C
- NM_001408442.1:c.115T>C
- NM_001408443.1:c.115T>C
- NM_001408444.1:c.115T>C
- NM_001408445.1:c.115T>C
- NM_001408446.1:c.115T>C
- NM_001408447.1:c.115T>C
- NM_001408448.1:c.115T>C
- NM_001408450.1:c.115T>C
- NM_001408452.1:c.-27T>C
- NM_001408453.1:c.-27T>C
- NM_001408455.1:c.-143T>C
- NM_001408456.1:c.-143T>C
- NM_001408458.1:c.-27T>C
- NM_001408462.1:c.-27T>C
- NM_001408463.1:c.-27T>C
- NM_001408465.1:c.-147T>C
- NM_001408466.1:c.-27T>C
- NM_001408468.1:c.-143T>C
- NM_001408469.1:c.-27T>C
- NM_001408470.1:c.-27T>C
- NM_001408472.1:c.115T>C
- NM_001408473.1:c.115T>C
- NM_001408474.1:c.115T>C
- NM_001408475.1:c.115T>C
- NM_001408476.1:c.115T>C
- NM_001408478.1:c.-74T>C
- NM_001408479.1:c.-74T>C
- NM_001408480.1:c.-74T>C
- NM_001408481.1:c.-74T>C
- NM_001408482.1:c.-74T>C
- NM_001408483.1:c.-74T>C
- NM_001408484.1:c.-74T>C
- NM_001408485.1:c.-74T>C
- NM_001408489.1:c.-74T>C
- NM_001408490.1:c.-74T>C
- NM_001408491.1:c.-74T>C
- NM_001408492.1:c.-190T>C
- NM_001408493.1:c.-74T>C
- NM_001408494.1:c.115T>C
- NM_001408495.1:c.115T>C
- NM_001408497.1:c.-27T>C
- NM_001408499.1:c.-27T>C
- NM_001408500.1:c.-27T>C
- NM_001408501.1:c.-143T>C
- NM_001408502.1:c.-74T>C
- NM_001408503.1:c.-27T>C
- NM_001408504.1:c.-27T>C
- NM_001408505.1:c.-27T>C
- NM_001408506.1:c.-74T>C
- NM_001408507.1:c.-74T>C
- NM_001408508.1:c.-74T>C
- NM_001408509.1:c.-74T>C
- NM_001408510.1:c.-189T>C
- NM_001408512.1:c.-189T>C
- NM_001408513.1:c.-74T>C
- NM_001408514.1:c.-74T>C
- NM_007294.4:c.115T>CMANE SELECT
- NM_007297.4:c.-8+8272T>C
- NM_007298.4:c.115T>C
- NM_007299.4:c.115T>C
- NM_007300.4:c.115T>C
- NM_007304.2:c.115T>C
- NP_001394510.1:p.Cys39Arg
- NP_001394511.1:p.Cys39Arg
- NP_001394512.1:p.Cys39Arg
- NP_001394514.1:p.Cys39Arg
- NP_001394516.1:p.Cys39Arg
- NP_001394519.1:p.Cys39Arg
- NP_001394520.1:p.Cys39Arg
- NP_001394522.1:p.Cys39Arg
- NP_001394523.1:p.Cys39Arg
- NP_001394525.1:p.Cys39Arg
- NP_001394526.1:p.Cys39Arg
- NP_001394527.1:p.Cys39Arg
- NP_001394531.1:p.Cys39Arg
- NP_001394532.1:p.Cys39Arg
- NP_001394534.1:p.Cys39Arg
- NP_001394539.1:p.Cys39Arg
- NP_001394540.1:p.Cys39Arg
- NP_001394541.1:p.Cys39Arg
- NP_001394542.1:p.Cys39Arg
- NP_001394543.1:p.Cys39Arg
- NP_001394544.1:p.Cys39Arg
- NP_001394545.1:p.Cys39Arg
- NP_001394546.1:p.Cys39Arg
- NP_001394547.1:p.Cys39Arg
- NP_001394548.1:p.Cys39Arg
- NP_001394549.1:p.Cys39Arg
- NP_001394550.1:p.Cys39Arg
- NP_001394551.1:p.Cys39Arg
- NP_001394552.1:p.Cys39Arg
- NP_001394553.1:p.Cys39Arg
- NP_001394554.1:p.Cys39Arg
- NP_001394555.1:p.Cys39Arg
- NP_001394556.1:p.Cys39Arg
- NP_001394557.1:p.Cys39Arg
- NP_001394558.1:p.Cys39Arg
- NP_001394559.1:p.Cys39Arg
- NP_001394560.1:p.Cys39Arg
- NP_001394561.1:p.Cys39Arg
- NP_001394562.1:p.Cys39Arg
- NP_001394563.1:p.Cys39Arg
- NP_001394564.1:p.Cys39Arg
- NP_001394565.1:p.Cys39Arg
- NP_001394566.1:p.Cys39Arg
- NP_001394567.1:p.Cys39Arg
- NP_001394568.1:p.Cys39Arg
- NP_001394569.1:p.Cys39Arg
- NP_001394570.1:p.Cys39Arg
- NP_001394571.1:p.Cys39Arg
- NP_001394573.1:p.Cys39Arg
- NP_001394574.1:p.Cys39Arg
- NP_001394575.1:p.Cys39Arg
- NP_001394576.1:p.Cys39Arg
- NP_001394577.1:p.Cys39Arg
- NP_001394578.1:p.Cys39Arg
- NP_001394581.1:p.Cys39Arg
- NP_001394582.1:p.Cys39Arg
- NP_001394583.1:p.Cys39Arg
- NP_001394584.1:p.Cys39Arg
- NP_001394585.1:p.Cys39Arg
- NP_001394586.1:p.Cys39Arg
- NP_001394587.1:p.Cys39Arg
- NP_001394588.1:p.Cys39Arg
- NP_001394589.1:p.Cys39Arg
- NP_001394590.1:p.Cys39Arg
- NP_001394591.1:p.Cys39Arg
- NP_001394592.1:p.Cys39Arg
- NP_001394593.1:p.Cys39Arg
- NP_001394594.1:p.Cys39Arg
- NP_001394595.1:p.Cys39Arg
- NP_001394596.1:p.Cys39Arg
- NP_001394597.1:p.Cys39Arg
- NP_001394598.1:p.Cys39Arg
- NP_001394599.1:p.Cys39Arg
- NP_001394600.1:p.Cys39Arg
- NP_001394601.1:p.Cys39Arg
- NP_001394602.1:p.Cys39Arg
- NP_001394603.1:p.Cys39Arg
- NP_001394604.1:p.Cys39Arg
- NP_001394605.1:p.Cys39Arg
- NP_001394606.1:p.Cys39Arg
- NP_001394607.1:p.Cys39Arg
- NP_001394608.1:p.Cys39Arg
- NP_001394609.1:p.Cys39Arg
- NP_001394610.1:p.Cys39Arg
- NP_001394611.1:p.Cys39Arg
- NP_001394612.1:p.Cys39Arg
- NP_001394613.1:p.Cys39Arg
- NP_001394614.1:p.Cys39Arg
- NP_001394615.1:p.Cys39Arg
- NP_001394616.1:p.Cys39Arg
- NP_001394617.1:p.Cys39Arg
- NP_001394618.1:p.Cys39Arg
- NP_001394619.1:p.Cys39Arg
- NP_001394620.1:p.Cys39Arg
- NP_001394783.1:p.Cys39Arg
- NP_001394787.1:p.Cys39Arg
- NP_001394788.1:p.Cys39Arg
- NP_001394789.1:p.Cys39Arg
- NP_001394790.1:p.Cys39Arg
- NP_001394791.1:p.Cys39Arg
- NP_001394792.1:p.Cys39Arg
- NP_001394803.1:p.Cys39Arg
- NP_001394804.1:p.Cys39Arg
- NP_001394848.1:p.Cys39Arg
- NP_001394866.1:p.Cys39Arg
- NP_001394867.1:p.Cys39Arg
- NP_001394868.1:p.Cys39Arg
- NP_001394869.1:p.Cys39Arg
- NP_001394870.1:p.Cys39Arg
- NP_001394897.1:p.Cys39Arg
- NP_001394898.1:p.Cys39Arg
- NP_001394899.1:p.Cys39Arg
- NP_001394900.1:p.Cys39Arg
- NP_001394901.1:p.Cys39Arg
- NP_001394902.1:p.Cys39Arg
- NP_001394903.1:p.Cys39Arg
- NP_001394904.1:p.Cys39Arg
- NP_001394905.1:p.Cys39Arg
- NP_001394906.1:p.Cys39Arg
- NP_001394907.1:p.Cys39Arg
- NP_001394908.1:p.Cys39Arg
- NP_001394909.1:p.Cys39Arg
- NP_001394910.1:p.Cys39Arg
- NP_001394911.1:p.Cys39Arg
- NP_001394912.1:p.Cys39Arg
- NP_001394913.1:p.Cys39Arg
- NP_001394914.1:p.Cys39Arg
- NP_001394915.1:p.Cys39Arg
- NP_001394919.1:p.Cys39Arg
- NP_001394920.1:p.Cys39Arg
- NP_001394921.1:p.Cys39Arg
- NP_001394922.1:p.Cys39Arg
- NP_001395321.1:p.Cys39Arg
- NP_001395325.1:p.Cys39Arg
- NP_001395326.1:p.Cys39Arg
- NP_001395327.1:p.Cys39Arg
- NP_001395328.1:p.Cys39Arg
- NP_001395329.1:p.Cys39Arg
- NP_001395330.1:p.Cys39Arg
- NP_001395331.1:p.Cys39Arg
- NP_001395332.1:p.Cys39Arg
- NP_001395333.1:p.Cys39Arg
- NP_001395335.1:p.Cys39Arg
- NP_001395336.1:p.Cys39Arg
- NP_001395337.1:p.Cys39Arg
- NP_001395338.1:p.Cys39Arg
- NP_001395340.1:p.Cys39Arg
- NP_001395341.1:p.Cys39Arg
- NP_001395342.1:p.Cys39Arg
- NP_001395343.1:p.Cys39Arg
- NP_001395344.1:p.Cys39Arg
- NP_001395345.1:p.Cys39Arg
- NP_001395347.1:p.Cys39Arg
- NP_001395348.1:p.Cys39Arg
- NP_001395349.1:p.Cys39Arg
- NP_001395350.1:p.Cys39Arg
- NP_001395351.1:p.Cys39Arg
- NP_001395352.1:p.Cys39Arg
- NP_001395353.1:p.Cys39Arg
- NP_001395354.1:p.Cys39Arg
- NP_001395355.1:p.Cys39Arg
- NP_001395356.1:p.Cys39Arg
- NP_001395357.1:p.Cys39Arg
- NP_001395358.1:p.Cys39Arg
- NP_001395359.1:p.Cys39Arg
- NP_001395360.1:p.Cys39Arg
- NP_001395361.1:p.Cys39Arg
- NP_001395362.1:p.Cys39Arg
- NP_001395363.1:p.Cys39Arg
- NP_001395364.1:p.Cys39Arg
- NP_001395365.1:p.Cys39Arg
- NP_001395366.1:p.Cys39Arg
- NP_001395367.1:p.Cys39Arg
- NP_001395368.1:p.Cys39Arg
- NP_001395369.1:p.Cys39Arg
- NP_001395370.1:p.Cys39Arg
- NP_001395371.1:p.Cys39Arg
- NP_001395372.1:p.Cys39Arg
- NP_001395373.1:p.Cys39Arg
- NP_001395374.1:p.Cys39Arg
- NP_001395375.1:p.Cys39Arg
- NP_001395376.1:p.Cys39Arg
- NP_001395377.1:p.Cys39Arg
- NP_001395379.1:p.Cys39Arg
- NP_001395401.1:p.Cys39Arg
- NP_001395402.1:p.Cys39Arg
- NP_001395403.1:p.Cys39Arg
- NP_001395404.1:p.Cys39Arg
- NP_001395405.1:p.Cys39Arg
- NP_001395423.1:p.Cys39Arg
- NP_001395424.1:p.Cys39Arg
- NP_009225.1:p.Cys39Arg
- NP_009225.1:p.Cys39Arg
- NP_009229.2:p.Cys39Arg
- NP_009229.2:p.Cys39Arg
- NP_009230.2:p.Cys39Arg
- NP_009231.2:p.Cys39Arg
- NP_009235.2:p.Cys39Arg
- LRG_292t1:c.115T>C
- LRG_292:g.102239T>C
- LRG_292p1:p.Cys39Arg
- NC_000017.10:g.41267762A>G
- NM_007294.3:c.115T>C
- NM_007298.3:c.115T>C
- NR_027676.2:n.317T>C
- U14680.1:n.234T>C
This HGVS expression did not pass validation- Nucleotide change:
- 234T>C
- Protein change:
- C39R
- Links:
- BRCA1-HCI: BRCA1_00113; dbSNP: rs80357164
- NCBI 1000 Genomes Browser:
- rs80357164
- Molecular consequence:
- NM_007297.4:c.-8+8272T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.317T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.115T>C, a MISSENSE variant, produced a function score of -2.4, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 11
Condition(s)
-
Mus musculus PTK7 protein tyrosine kinase 7, mRNA (cDNA clone IMAGE:4503462), wi...
Mus musculus PTK7 protein tyrosine kinase 7, mRNA (cDNA clone IMAGE:4503462), with apparent retained introngi|23337004|gb|BC037175.1|Nucleotide
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000109281 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Pathogenic (Jul 15, 2008) | germline | clinical testing | |
| SCV000144349 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (May 29, 2002) | germline | clinical testing | |
| SCV000244296 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Pathogenic (Aug 10, 2015) | germline | curation | PubMed (1) ENIGMA BRCA1/2 Classification Criteria (2015), |
| SCV000324971 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
| SCV000488027 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Pathogenic (Dec 28, 2015) | unknown | clinical testing | PubMed (4) Counsyl Autosomal Dominant Disease Classification criteria (2015), |
| SCV000577916 | Genologica Medica
| criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jan 1, 2017) | germline | clinical testing | |
| SCV001241900 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
| SCV001435001 | Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Feb 1, 2019) | germline | clinical testing | |
| SCV002761700 | Genetics and Molecular Pathology, SA Pathology
| criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jan 2, 2020) | germline | clinical testing | |
| SCV004839116 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jan 8, 2024) | germline | clinical testing | |
| SCV005061295 | Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) | no assertion criteria provided | Pathogenic (May 24, 2021) | germline | case-control |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | not provided | 1 | not provided | not provided | not provided | clinical testing, case-control |
| not provided | germline | not provided | 1 | not provided | not provided | 1 | not provided | clinical testing |
| not provided | germline | unknown | 1 | 9 | not provided | 108544 | not provided | clinical testing, curation |
| not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
| not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
| Caucasian | germline | yes | 4 | not provided | not provided | not provided | not provided | clinical testing |
| Causasians | germline | yes | not provided | 1 | not provided | not provided | yes | clinical testing |
| Central/Eastern European | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing |
| Western European, Ashkenazi | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.
Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.
PubMed [citation]
- PMID:
- 21990134
- PMCID:
- PMC3242438
Rostagno P, Gioanni J, Garino E, Vallino P, Namer M, Frenay M.
J Hum Genet. 2003;48(7):362-6. Epub 2003 Jun 24.
PubMed [citation]
- PMID:
- 12827452
Details of each submission
From Sharing Clinical Reports Project (SCRP), SCV000109281.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | not provided | 1 | not provided | not provided | not provided | not provided | not provided | not provided | |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144349.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | Caucasian | 4 | not provided | not provided | clinical testing | PubMed (1) |
| 2 | Central/Eastern European | 3 | not provided | not provided | clinical testing | PubMed (1) |
| 3 | Western European, Ashkenazi | 1 | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | 4 | not provided | not provided | not provided | |
| 2 | germline | yes | not provided | not provided | not provided | 3 | not provided | not provided | not provided | |
| 3 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244296.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.99
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000324971.4
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 9 | not provided | |
From Counsyl, SCV000488027.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Genologica Medica, SCV000577916.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | Causasians | not provided | not provided | yes | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | Blood | not provided | not provided | not provided | 1 | not provided | |
From Brotman Baty Institute, University of Washington, SCV001241900.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001435001.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The c.115T>C (p.Cys39Arg) variant in the BRCA1 gene has been reported in multiple patients with hereditary breast and ovarian cancer (PMID 12827452, 18489799, 28993434). This variant is absent from large databases of genetic variation in the general population. Functional classification using saturation genome editing showed that this variant to be loss-of-function (PMID 30209399). Multiple lines of prediction algorithms support the deleterious effect of the variant. Loss of function variants in the BRCA1 gene have been associated with familial breast-ovarian cancer-1 (BROVCA1, MIM# 604370). Therefore, c.115T>C (p.Cys39Arg) variant in the BRCA1 gene is classified as pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Genetics and Molecular Pathology, SA Pathology, SCV002761700.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The BRCA1 c.115T>C variant is classified as Pathogenic (PS1, PS3, PM2, PP5) The BRCA1 c.115T>C variant is a single nucleotide change in the BRCA1 gene, which is predicted to change the amino acid cysteine at position 39 in the protein to arginine. This variant is absent from population databases (PM2). Well-established functional studies show a deleterious effect of this variant (PS3). Assay of Cys39 to Tyr and Arg indicate affect on double strand break repair and centrosome duplication. This variant results in the same amino acid change as a previously established variant (PS1). All changes from cysteine regarded as pathogenic - cysteine involved in disulphide bridge The variant has been reported in dbSNP (rs80357164) and in the HGMD database: CM040687. It has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 54152).
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From All of Us Research Program, National Institutes of Health, SCV004839116.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (13) |
Description
This missense variant replaces a conserved cysteine with arginine at codon 39 in the RING domain of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373).Functional studies have reported that this variant impacts BRCA1 function in ubiquitin ligase, homology-directed repair, haploid cell proliferation assays and binding assays to known protein-protein interacting partners (PMID: 16403807, 25823446, 30209399, 30219179, 37168384). This variant has been reported in over 10 individuals and families affected with breast and/or ovarian cancer (PMID: 12827452, 15024741, 17319787, 18489799, 19543972, 26757417, 30287823). Several different missense substitutions at p.Cys39 has been reported as disease-causing in ClinVar (variation ID: 37392, 37393, 54151, 54153, 267497). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | unknown | 108544 | not provided | not provided | 1 | not provided | not provided | not provided | |
From Molecular Oncology, Hospital Universitario Central de Asturias (HUCA), SCV005061295.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | case-control | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | germline | yes | not provided | not provided | not provided | not provided | not provided | 1 | not provided | |
Last Updated: Nov 10, 2024