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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 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no 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
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)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000665362Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Mar 11, 2021) 		germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link,

SCV002538000Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Pathogenic
(Apr 5, 2021) 		germlinecuration

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

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.

PubMed [citation]
PMID:
16403807
See all PubMed Citations (16)

Details of each submission

From Ambry Genetics, SCV000665362.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Sema4, Sema4, SCV002538000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024