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NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 3, 2023
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:
RCV000985365.13

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001133477Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Dec 5, 2018) 		germlineclinical testing

PubMed (15)
[See all records that cite these PMIDs]

SCV001804196GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 3, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.

Kowalik A, Siołek M, Kopczyński J, Krawiec K, Kalisz J, Zięba S, Kozak-Klonowska B, Wypiórkiewicz E, Furmańczyk J, Nowak-Ozimek E, Chłopek M, Macek P, Smok-Kalwat J, Góźdź S.

PLoS One. 2018;13(7):e0201086. doi: 10.1371/journal.pone.0201086.

PubMed [citation]
PMID:
30040829
PMCID:
PMC6057642
See all PubMed Citations (15)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133477.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (15)

Description

Statistically enriched in patients compared to ethnically matched controls. Not found in the total gnomAD dataset, and the data is high quality (0/282180 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

From GeneDx, SCV001804196.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate a damaging effect: impairs E2 and BARD1 binding and reduces E3 ubiquitin ligase activity (Morris et al., 2006; Starita et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); Observed in individuals with Hereditary Breast and Ovarian Cancer syndrome (Rostagno et al., 2003; Machackova et al., 2008; Sweet et al., 2010; Konecny et al., 2011; Lhota et al., 2016; Ng et al., 2016; Wen et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 234T>C; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 15235020, 22753008, 26822949, 26757417, 18493658, 30040829, 29884136, 21990134, 15024741, 18489799, 24489791, 21203900, 12827452, 27272900, 16403807, 25823446, 19543972, 30209399, 29446198, 28993434, 33087888, 24389207, 20104584, 8944023)

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

Last Updated: Nov 10, 2024