NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Apr 5, 2021
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000570028.12
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.
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000665362 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Mar 11, 2021) | germline | clinical testing | |
SCV002538000 | Sema4, Sema4 | criteria provided, single submitter (Sema4 Curation Guidelines) | Pathogenic (Apr 5, 2021) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, curation |
Citations
PubMed
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.
J Med Genet. 2004 Jul;41(7):492-507.
- PMID:
- 15235020
- PMCID:
- PMC1735826
Morris JR, Pangon L, Boutell C, Katagiri T, Keep NH, Solomon E.
Hum Mol Genet. 2006 Feb 15;15(4):599-606. Epub 2006 Jan 10.
- PMID:
- 16403807
Details of each submission
From Ambry Genetics, SCV000665362.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (11) |
Description
The p.C39R pathogenic mutation (also known as c.115T>C), located in coding exon 2 of the BRCA1 gene, results from a T to C substitution at nucleotide position 115. The cysteine at codon 39 is replaced by arginine, an amino acid with highly dissimilar properties. This mutation has been reported in multiple hereditary breast and/or ovarian cancer families (Rostagno P et al. J. Hum. Genet., 2003 Jul;48:362-6; Machackova E et al. BMC Cancer, 2008 May;8:140; Konecny M et al. Breast Cancer Res. Treat., 2011 Feb;126:119-30). One functional study found that this nucleotide substitution is deleterious in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). One other functional study has demonstrated that p.C39R causes abolishment and decreased activity of ubiquitin protein ligase function in the BRCA1 RING finger in vitro (Morris JR et al. Hum. Mol. Genet., 2006 Feb;15:599-606). Additional functional studies using yeast assays have shown that this mutation results in deficient protein compared to wild-type BRCA1 (Thouvenot P et al. PLoS Genet., 2016 06;12:e1006096). The p.C39R alteration is located in a critical region of the BRCA1 protein RING domain, and, along with other alterations at this codon including p.C39Y and p.C39S, has been shown to alter the structure of the RING domain and negatively impact protein function and binding (Ruffner H et al. Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9; Brzovic PS et al. Proc Natl Acad Sci USA. 2003 May;100(10):5646-51; Ransburgh DJ et al. Cancer Res. 2010 Feb 1;70(3):988-95; Sweet K et al. Breast Cancer Res Treat. 2010 Feb;119(3):737-43). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Of note, this alteration has also been designated as 234T>C in published literature. Based on the supporting evidence to date, this alteration is interpreted as a disease-causing mutation.
# | 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 Sema4, Sema4, SCV002538000.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (8) |
# | 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 |
Last Updated: Sep 8, 2024