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NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000703438.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp)]

NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp)

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.117T>G (p.Cys39Trp)
HGVS:
  • NC_000017.11:g.43115743A>C
  • NG_005905.2:g.102241T>G
  • NM_001407571.1:c.-72T>G
  • NM_001407581.1:c.117T>G
  • NM_001407582.1:c.117T>G
  • NM_001407583.1:c.117T>G
  • NM_001407585.1:c.117T>G
  • NM_001407587.1:c.117T>G
  • NM_001407590.1:c.117T>G
  • NM_001407591.1:c.117T>G
  • NM_001407593.1:c.117T>G
  • NM_001407594.1:c.117T>G
  • NM_001407596.1:c.117T>G
  • NM_001407597.1:c.117T>G
  • NM_001407598.1:c.117T>G
  • NM_001407602.1:c.117T>G
  • NM_001407603.1:c.117T>G
  • NM_001407605.1:c.117T>G
  • NM_001407610.1:c.117T>G
  • NM_001407611.1:c.117T>G
  • NM_001407612.1:c.117T>G
  • NM_001407613.1:c.117T>G
  • NM_001407614.1:c.117T>G
  • NM_001407615.1:c.117T>G
  • NM_001407616.1:c.117T>G
  • NM_001407617.1:c.117T>G
  • NM_001407618.1:c.117T>G
  • NM_001407619.1:c.117T>G
  • NM_001407620.1:c.117T>G
  • NM_001407621.1:c.117T>G
  • NM_001407622.1:c.117T>G
  • NM_001407623.1:c.117T>G
  • NM_001407624.1:c.117T>G
  • NM_001407625.1:c.117T>G
  • NM_001407626.1:c.117T>G
  • NM_001407627.1:c.117T>G
  • NM_001407628.1:c.117T>G
  • NM_001407629.1:c.117T>G
  • NM_001407630.1:c.117T>G
  • NM_001407631.1:c.117T>G
  • NM_001407632.1:c.117T>G
  • NM_001407633.1:c.117T>G
  • NM_001407634.1:c.117T>G
  • NM_001407635.1:c.117T>G
  • NM_001407636.1:c.117T>G
  • NM_001407637.1:c.117T>G
  • NM_001407638.1:c.117T>G
  • NM_001407639.1:c.117T>G
  • NM_001407640.1:c.117T>G
  • NM_001407641.1:c.117T>G
  • NM_001407642.1:c.117T>G
  • NM_001407644.1:c.117T>G
  • NM_001407645.1:c.117T>G
  • NM_001407646.1:c.117T>G
  • NM_001407647.1:c.117T>G
  • NM_001407648.1:c.117T>G
  • NM_001407649.1:c.117T>G
  • NM_001407652.1:c.117T>G
  • NM_001407653.1:c.117T>G
  • NM_001407654.1:c.117T>G
  • NM_001407655.1:c.117T>G
  • NM_001407656.1:c.117T>G
  • NM_001407657.1:c.117T>G
  • NM_001407658.1:c.117T>G
  • NM_001407659.1:c.117T>G
  • NM_001407660.1:c.117T>G
  • NM_001407661.1:c.117T>G
  • NM_001407662.1:c.117T>G
  • NM_001407663.1:c.117T>G
  • NM_001407664.1:c.117T>G
  • NM_001407665.1:c.117T>G
  • NM_001407666.1:c.117T>G
  • NM_001407667.1:c.117T>G
  • NM_001407668.1:c.117T>G
  • NM_001407669.1:c.117T>G
  • NM_001407670.1:c.117T>G
  • NM_001407671.1:c.117T>G
  • NM_001407672.1:c.117T>G
  • NM_001407673.1:c.117T>G
  • NM_001407674.1:c.117T>G
  • NM_001407675.1:c.117T>G
  • NM_001407676.1:c.117T>G
  • NM_001407677.1:c.117T>G
  • NM_001407678.1:c.117T>G
  • NM_001407679.1:c.117T>G
  • NM_001407680.1:c.117T>G
  • NM_001407681.1:c.117T>G
  • NM_001407682.1:c.117T>G
  • NM_001407683.1:c.117T>G
  • NM_001407684.1:c.117T>G
  • NM_001407685.1:c.117T>G
  • NM_001407686.1:c.117T>G
  • NM_001407687.1:c.117T>G
  • NM_001407688.1:c.117T>G
  • NM_001407689.1:c.117T>G
  • NM_001407690.1:c.117T>G
  • NM_001407691.1:c.117T>G
  • NM_001407694.1:c.-141T>G
  • NM_001407695.1:c.-145T>G
  • NM_001407696.1:c.-141T>G
  • NM_001407697.1:c.-25T>G
  • NM_001407724.1:c.-141T>G
  • NM_001407725.1:c.-25T>G
  • NM_001407727.1:c.-141T>G
  • NM_001407728.1:c.-25T>G
  • NM_001407729.1:c.-25T>G
  • NM_001407730.1:c.-25T>G
  • NM_001407731.1:c.-141T>G
  • NM_001407733.1:c.-141T>G
  • NM_001407734.1:c.-25T>G
  • NM_001407735.1:c.-25T>G
  • NM_001407737.1:c.-25T>G
  • NM_001407739.1:c.-25T>G
  • NM_001407740.1:c.-25T>G
  • NM_001407741.1:c.-25T>G
  • NM_001407743.1:c.-25T>G
  • NM_001407745.1:c.-25T>G
  • NM_001407746.1:c.-141T>G
  • NM_001407748.1:c.-25T>G
  • NM_001407749.1:c.-141T>G
  • NM_001407752.1:c.-25T>G
  • NM_001407838.1:c.-25T>G
  • NM_001407839.1:c.-25T>G
  • NM_001407841.1:c.-21T>G
  • NM_001407842.1:c.-141T>G
  • NM_001407843.1:c.-141T>G
  • NM_001407844.1:c.-25T>G
  • NM_001407846.1:c.-25T>G
  • NM_001407847.1:c.-25T>G
  • NM_001407848.1:c.-25T>G
  • NM_001407850.1:c.-25T>G
  • NM_001407851.1:c.-25T>G
  • NM_001407853.1:c.-72T>G
  • NM_001407854.1:c.117T>G
  • NM_001407858.1:c.117T>G
  • NM_001407859.1:c.117T>G
  • NM_001407860.1:c.117T>G
  • NM_001407861.1:c.117T>G
  • NM_001407862.1:c.117T>G
  • NM_001407863.1:c.117T>G
  • NM_001407874.1:c.117T>G
  • NM_001407875.1:c.117T>G
  • NM_001407879.1:c.-72T>G
  • NM_001407882.1:c.-72T>G
  • NM_001407884.1:c.-72T>G
  • NM_001407885.1:c.-72T>G
  • NM_001407886.1:c.-72T>G
  • NM_001407887.1:c.-72T>G
  • NM_001407889.1:c.-188T>G
  • NM_001407894.1:c.-72T>G
  • NM_001407895.1:c.-72T>G
  • NM_001407896.1:c.-72T>G
  • NM_001407897.1:c.-72T>G
  • NM_001407899.1:c.-72T>G
  • NM_001407900.1:c.-188T>G
  • NM_001407904.1:c.-72T>G
  • NM_001407906.1:c.-72T>G
  • NM_001407907.1:c.-72T>G
  • NM_001407908.1:c.-72T>G
  • NM_001407909.1:c.-72T>G
  • NM_001407910.1:c.-72T>G
  • NM_001407915.1:c.-72T>G
  • NM_001407916.1:c.-72T>G
  • NM_001407917.1:c.-72T>G
  • NM_001407918.1:c.-72T>G
  • NM_001407919.1:c.117T>G
  • NM_001407920.1:c.-25T>G
  • NM_001407921.1:c.-25T>G
  • NM_001407922.1:c.-25T>G
  • NM_001407923.1:c.-25T>G
  • NM_001407926.1:c.-25T>G
  • NM_001407927.1:c.-25T>G
  • NM_001407930.1:c.-141T>G
  • NM_001407933.1:c.-25T>G
  • NM_001407934.1:c.-25T>G
  • NM_001407935.1:c.-25T>G
  • NM_001407937.1:c.117T>G
  • NM_001407938.1:c.117T>G
  • NM_001407939.1:c.117T>G
  • NM_001407940.1:c.117T>G
  • NM_001407941.1:c.117T>G
  • NM_001407942.1:c.-141T>G
  • NM_001407943.1:c.-25T>G
  • NM_001407944.1:c.-25T>G
  • NM_001407946.1:c.-72T>G
  • NM_001407947.1:c.-72T>G
  • NM_001407948.1:c.-72T>G
  • NM_001407949.1:c.-72T>G
  • NM_001407950.1:c.-72T>G
  • NM_001407951.1:c.-72T>G
  • NM_001407952.1:c.-72T>G
  • NM_001407953.1:c.-72T>G
  • NM_001407954.1:c.-72T>G
  • NM_001407955.1:c.-72T>G
  • NM_001407956.1:c.-72T>G
  • NM_001407957.1:c.-72T>G
  • NM_001407958.1:c.-72T>G
  • NM_001407960.1:c.-187T>G
  • NM_001407962.1:c.-187T>G
  • NM_001407964.1:c.-25T>G
  • NM_001407965.1:c.-303T>G
  • NM_001407968.1:c.117T>G
  • NM_001407969.1:c.117T>G
  • NM_001407970.1:c.117T>G
  • NM_001407971.1:c.117T>G
  • NM_001407972.1:c.117T>G
  • NM_001407973.1:c.117T>G
  • NM_001407974.1:c.117T>G
  • NM_001407975.1:c.117T>G
  • NM_001407976.1:c.117T>G
  • NM_001407977.1:c.117T>G
  • NM_001407978.1:c.117T>G
  • NM_001407979.1:c.117T>G
  • NM_001407980.1:c.117T>G
  • NM_001407981.1:c.117T>G
  • NM_001407982.1:c.117T>G
  • NM_001407983.1:c.117T>G
  • NM_001407984.1:c.117T>G
  • NM_001407985.1:c.117T>G
  • NM_001407986.1:c.117T>G
  • NM_001407990.1:c.117T>G
  • NM_001407991.1:c.117T>G
  • NM_001407992.1:c.117T>G
  • NM_001407993.1:c.117T>G
  • NM_001408392.1:c.117T>G
  • NM_001408396.1:c.117T>G
  • NM_001408397.1:c.117T>G
  • NM_001408398.1:c.117T>G
  • NM_001408399.1:c.117T>G
  • NM_001408400.1:c.117T>G
  • NM_001408401.1:c.117T>G
  • NM_001408402.1:c.117T>G
  • NM_001408403.1:c.117T>G
  • NM_001408404.1:c.117T>G
  • NM_001408406.1:c.117T>G
  • NM_001408407.1:c.117T>G
  • NM_001408408.1:c.117T>G
  • NM_001408409.1:c.117T>G
  • NM_001408410.1:c.-25T>G
  • NM_001408411.1:c.117T>G
  • NM_001408412.1:c.117T>G
  • NM_001408413.1:c.117T>G
  • NM_001408414.1:c.117T>G
  • NM_001408415.1:c.117T>G
  • NM_001408416.1:c.117T>G
  • NM_001408418.1:c.117T>G
  • NM_001408419.1:c.117T>G
  • NM_001408420.1:c.117T>G
  • NM_001408421.1:c.117T>G
  • NM_001408422.1:c.117T>G
  • NM_001408423.1:c.117T>G
  • NM_001408424.1:c.117T>G
  • NM_001408425.1:c.117T>G
  • NM_001408426.1:c.117T>G
  • NM_001408427.1:c.117T>G
  • NM_001408428.1:c.117T>G
  • NM_001408429.1:c.117T>G
  • NM_001408430.1:c.117T>G
  • NM_001408431.1:c.117T>G
  • NM_001408432.1:c.117T>G
  • NM_001408433.1:c.117T>G
  • NM_001408434.1:c.117T>G
  • NM_001408435.1:c.117T>G
  • NM_001408436.1:c.117T>G
  • NM_001408437.1:c.117T>G
  • NM_001408438.1:c.117T>G
  • NM_001408439.1:c.117T>G
  • NM_001408440.1:c.117T>G
  • NM_001408441.1:c.117T>G
  • NM_001408442.1:c.117T>G
  • NM_001408443.1:c.117T>G
  • NM_001408444.1:c.117T>G
  • NM_001408445.1:c.117T>G
  • NM_001408446.1:c.117T>G
  • NM_001408447.1:c.117T>G
  • NM_001408448.1:c.117T>G
  • NM_001408450.1:c.117T>G
  • NM_001408452.1:c.-25T>G
  • NM_001408453.1:c.-25T>G
  • NM_001408455.1:c.-141T>G
  • NM_001408456.1:c.-141T>G
  • NM_001408458.1:c.-25T>G
  • NM_001408462.1:c.-25T>G
  • NM_001408463.1:c.-25T>G
  • NM_001408465.1:c.-145T>G
  • NM_001408466.1:c.-25T>G
  • NM_001408468.1:c.-141T>G
  • NM_001408469.1:c.-25T>G
  • NM_001408470.1:c.-25T>G
  • NM_001408472.1:c.117T>G
  • NM_001408473.1:c.117T>G
  • NM_001408474.1:c.117T>G
  • NM_001408475.1:c.117T>G
  • NM_001408476.1:c.117T>G
  • NM_001408478.1:c.-72T>G
  • NM_001408479.1:c.-72T>G
  • NM_001408480.1:c.-72T>G
  • NM_001408481.1:c.-72T>G
  • NM_001408482.1:c.-72T>G
  • NM_001408483.1:c.-72T>G
  • NM_001408484.1:c.-72T>G
  • NM_001408485.1:c.-72T>G
  • NM_001408489.1:c.-72T>G
  • NM_001408490.1:c.-72T>G
  • NM_001408491.1:c.-72T>G
  • NM_001408492.1:c.-188T>G
  • NM_001408493.1:c.-72T>G
  • NM_001408494.1:c.117T>G
  • NM_001408495.1:c.117T>G
  • NM_001408497.1:c.-25T>G
  • NM_001408499.1:c.-25T>G
  • NM_001408500.1:c.-25T>G
  • NM_001408501.1:c.-141T>G
  • NM_001408502.1:c.-72T>G
  • NM_001408503.1:c.-25T>G
  • NM_001408504.1:c.-25T>G
  • NM_001408505.1:c.-25T>G
  • NM_001408506.1:c.-72T>G
  • NM_001408507.1:c.-72T>G
  • NM_001408508.1:c.-72T>G
  • NM_001408509.1:c.-72T>G
  • NM_001408510.1:c.-187T>G
  • NM_001408512.1:c.-187T>G
  • NM_001408513.1:c.-72T>G
  • NM_001408514.1:c.-72T>G
  • NM_007294.4:c.117T>GMANE SELECT
  • NM_007297.4:c.-8+8274T>G
  • NM_007298.4:c.117T>G
  • NM_007299.4:c.117T>G
  • NM_007300.4:c.117T>G
  • NM_007304.2:c.117T>G
  • NP_001394510.1:p.Cys39Trp
  • NP_001394511.1:p.Cys39Trp
  • NP_001394512.1:p.Cys39Trp
  • NP_001394514.1:p.Cys39Trp
  • NP_001394516.1:p.Cys39Trp
  • NP_001394519.1:p.Cys39Trp
  • NP_001394520.1:p.Cys39Trp
  • NP_001394522.1:p.Cys39Trp
  • NP_001394523.1:p.Cys39Trp
  • NP_001394525.1:p.Cys39Trp
  • NP_001394526.1:p.Cys39Trp
  • NP_001394527.1:p.Cys39Trp
  • NP_001394531.1:p.Cys39Trp
  • NP_001394532.1:p.Cys39Trp
  • NP_001394534.1:p.Cys39Trp
  • NP_001394539.1:p.Cys39Trp
  • NP_001394540.1:p.Cys39Trp
  • NP_001394541.1:p.Cys39Trp
  • NP_001394542.1:p.Cys39Trp
  • NP_001394543.1:p.Cys39Trp
  • NP_001394544.1:p.Cys39Trp
  • NP_001394545.1:p.Cys39Trp
  • NP_001394546.1:p.Cys39Trp
  • NP_001394547.1:p.Cys39Trp
  • NP_001394548.1:p.Cys39Trp
  • NP_001394549.1:p.Cys39Trp
  • NP_001394550.1:p.Cys39Trp
  • NP_001394551.1:p.Cys39Trp
  • NP_001394552.1:p.Cys39Trp
  • NP_001394553.1:p.Cys39Trp
  • NP_001394554.1:p.Cys39Trp
  • NP_001394555.1:p.Cys39Trp
  • NP_001394556.1:p.Cys39Trp
  • NP_001394557.1:p.Cys39Trp
  • NP_001394558.1:p.Cys39Trp
  • NP_001394559.1:p.Cys39Trp
  • NP_001394560.1:p.Cys39Trp
  • NP_001394561.1:p.Cys39Trp
  • NP_001394562.1:p.Cys39Trp
  • NP_001394563.1:p.Cys39Trp
  • NP_001394564.1:p.Cys39Trp
  • NP_001394565.1:p.Cys39Trp
  • NP_001394566.1:p.Cys39Trp
  • NP_001394567.1:p.Cys39Trp
  • NP_001394568.1:p.Cys39Trp
  • NP_001394569.1:p.Cys39Trp
  • NP_001394570.1:p.Cys39Trp
  • NP_001394571.1:p.Cys39Trp
  • NP_001394573.1:p.Cys39Trp
  • NP_001394574.1:p.Cys39Trp
  • NP_001394575.1:p.Cys39Trp
  • NP_001394576.1:p.Cys39Trp
  • NP_001394577.1:p.Cys39Trp
  • NP_001394578.1:p.Cys39Trp
  • NP_001394581.1:p.Cys39Trp
  • NP_001394582.1:p.Cys39Trp
  • NP_001394583.1:p.Cys39Trp
  • NP_001394584.1:p.Cys39Trp
  • NP_001394585.1:p.Cys39Trp
  • NP_001394586.1:p.Cys39Trp
  • NP_001394587.1:p.Cys39Trp
  • NP_001394588.1:p.Cys39Trp
  • NP_001394589.1:p.Cys39Trp
  • NP_001394590.1:p.Cys39Trp
  • NP_001394591.1:p.Cys39Trp
  • NP_001394592.1:p.Cys39Trp
  • NP_001394593.1:p.Cys39Trp
  • NP_001394594.1:p.Cys39Trp
  • NP_001394595.1:p.Cys39Trp
  • NP_001394596.1:p.Cys39Trp
  • NP_001394597.1:p.Cys39Trp
  • NP_001394598.1:p.Cys39Trp
  • NP_001394599.1:p.Cys39Trp
  • NP_001394600.1:p.Cys39Trp
  • NP_001394601.1:p.Cys39Trp
  • NP_001394602.1:p.Cys39Trp
  • NP_001394603.1:p.Cys39Trp
  • NP_001394604.1:p.Cys39Trp
  • NP_001394605.1:p.Cys39Trp
  • NP_001394606.1:p.Cys39Trp
  • NP_001394607.1:p.Cys39Trp
  • NP_001394608.1:p.Cys39Trp
  • NP_001394609.1:p.Cys39Trp
  • NP_001394610.1:p.Cys39Trp
  • NP_001394611.1:p.Cys39Trp
  • NP_001394612.1:p.Cys39Trp
  • NP_001394613.1:p.Cys39Trp
  • NP_001394614.1:p.Cys39Trp
  • NP_001394615.1:p.Cys39Trp
  • NP_001394616.1:p.Cys39Trp
  • NP_001394617.1:p.Cys39Trp
  • NP_001394618.1:p.Cys39Trp
  • NP_001394619.1:p.Cys39Trp
  • NP_001394620.1:p.Cys39Trp
  • NP_001394783.1:p.Cys39Trp
  • NP_001394787.1:p.Cys39Trp
  • NP_001394788.1:p.Cys39Trp
  • NP_001394789.1:p.Cys39Trp
  • NP_001394790.1:p.Cys39Trp
  • NP_001394791.1:p.Cys39Trp
  • NP_001394792.1:p.Cys39Trp
  • NP_001394803.1:p.Cys39Trp
  • NP_001394804.1:p.Cys39Trp
  • NP_001394848.1:p.Cys39Trp
  • NP_001394866.1:p.Cys39Trp
  • NP_001394867.1:p.Cys39Trp
  • NP_001394868.1:p.Cys39Trp
  • NP_001394869.1:p.Cys39Trp
  • NP_001394870.1:p.Cys39Trp
  • NP_001394897.1:p.Cys39Trp
  • NP_001394898.1:p.Cys39Trp
  • NP_001394899.1:p.Cys39Trp
  • NP_001394900.1:p.Cys39Trp
  • NP_001394901.1:p.Cys39Trp
  • NP_001394902.1:p.Cys39Trp
  • NP_001394903.1:p.Cys39Trp
  • NP_001394904.1:p.Cys39Trp
  • NP_001394905.1:p.Cys39Trp
  • NP_001394906.1:p.Cys39Trp
  • NP_001394907.1:p.Cys39Trp
  • NP_001394908.1:p.Cys39Trp
  • NP_001394909.1:p.Cys39Trp
  • NP_001394910.1:p.Cys39Trp
  • NP_001394911.1:p.Cys39Trp
  • NP_001394912.1:p.Cys39Trp
  • NP_001394913.1:p.Cys39Trp
  • NP_001394914.1:p.Cys39Trp
  • NP_001394915.1:p.Cys39Trp
  • NP_001394919.1:p.Cys39Trp
  • NP_001394920.1:p.Cys39Trp
  • NP_001394921.1:p.Cys39Trp
  • NP_001394922.1:p.Cys39Trp
  • NP_001395321.1:p.Cys39Trp
  • NP_001395325.1:p.Cys39Trp
  • NP_001395326.1:p.Cys39Trp
  • NP_001395327.1:p.Cys39Trp
  • NP_001395328.1:p.Cys39Trp
  • NP_001395329.1:p.Cys39Trp
  • NP_001395330.1:p.Cys39Trp
  • NP_001395331.1:p.Cys39Trp
  • NP_001395332.1:p.Cys39Trp
  • NP_001395333.1:p.Cys39Trp
  • NP_001395335.1:p.Cys39Trp
  • NP_001395336.1:p.Cys39Trp
  • NP_001395337.1:p.Cys39Trp
  • NP_001395338.1:p.Cys39Trp
  • NP_001395340.1:p.Cys39Trp
  • NP_001395341.1:p.Cys39Trp
  • NP_001395342.1:p.Cys39Trp
  • NP_001395343.1:p.Cys39Trp
  • NP_001395344.1:p.Cys39Trp
  • NP_001395345.1:p.Cys39Trp
  • NP_001395347.1:p.Cys39Trp
  • NP_001395348.1:p.Cys39Trp
  • NP_001395349.1:p.Cys39Trp
  • NP_001395350.1:p.Cys39Trp
  • NP_001395351.1:p.Cys39Trp
  • NP_001395352.1:p.Cys39Trp
  • NP_001395353.1:p.Cys39Trp
  • NP_001395354.1:p.Cys39Trp
  • NP_001395355.1:p.Cys39Trp
  • NP_001395356.1:p.Cys39Trp
  • NP_001395357.1:p.Cys39Trp
  • NP_001395358.1:p.Cys39Trp
  • NP_001395359.1:p.Cys39Trp
  • NP_001395360.1:p.Cys39Trp
  • NP_001395361.1:p.Cys39Trp
  • NP_001395362.1:p.Cys39Trp
  • NP_001395363.1:p.Cys39Trp
  • NP_001395364.1:p.Cys39Trp
  • NP_001395365.1:p.Cys39Trp
  • NP_001395366.1:p.Cys39Trp
  • NP_001395367.1:p.Cys39Trp
  • NP_001395368.1:p.Cys39Trp
  • NP_001395369.1:p.Cys39Trp
  • NP_001395370.1:p.Cys39Trp
  • NP_001395371.1:p.Cys39Trp
  • NP_001395372.1:p.Cys39Trp
  • NP_001395373.1:p.Cys39Trp
  • NP_001395374.1:p.Cys39Trp
  • NP_001395375.1:p.Cys39Trp
  • NP_001395376.1:p.Cys39Trp
  • NP_001395377.1:p.Cys39Trp
  • NP_001395379.1:p.Cys39Trp
  • NP_001395401.1:p.Cys39Trp
  • NP_001395402.1:p.Cys39Trp
  • NP_001395403.1:p.Cys39Trp
  • NP_001395404.1:p.Cys39Trp
  • NP_001395405.1:p.Cys39Trp
  • NP_001395423.1:p.Cys39Trp
  • NP_001395424.1:p.Cys39Trp
  • NP_009225.1:p.Cys39Trp
  • NP_009225.1:p.Cys39Trp
  • NP_009229.2:p.Cys39Trp
  • NP_009229.2:p.Cys39Trp
  • NP_009230.2:p.Cys39Trp
  • NP_009231.2:p.Cys39Trp
  • NP_009235.2:p.Cys39Trp
  • LRG_292t1:c.117T>G
  • LRG_292:g.102241T>G
  • LRG_292p1:p.Cys39Trp
  • NC_000017.10:g.41267760A>C
  • NM_007294.3:c.117T>G
  • NM_007298.3:c.117T>G
  • NR_027676.2:n.319T>G
Protein change:
C39W
Links:
dbSNP: rs886040898
NCBI 1000 Genomes Browser:
rs886040898
Molecular consequence:
  • NM_007297.4:c.-8+8274T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.117T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.319T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000832337Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 30, 2019) 		germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mechanisms of BRCA1 tumor suppression.

Silver DP, Livingston DM.

Cancer Discov. 2012 Aug;2(8):679-84. doi: 10.1158/2159-8290.CD-12-0221. Epub 2012 Jul 27. Review.

PubMed [citation]
PMID:
22843421
PMCID:
PMC3437262

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M, Novaković S.

BMC Med Genet. 2011 Jan 14;12:9. doi: 10.1186/1471-2350-12-9.

PubMed [citation]
PMID:
21232165
PMCID:
PMC3025939
See all PubMed Citations (12)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000832337.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

This sequence change replaces cysteine with tryptophan at codon 39 of the BRCA1 protein (p.Cys39Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys39 amino acid residue in BRCA1, one of eight highly-conserved Cys/His residues in the N-terminal RING domain (PMID: 22843421). Other variant(s) that disrupt this residue have been observed in individuals with BRCA1-related conditions (PMID: 21232165, 23397983, 23683081, 17262179, 15024741, 18489799), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. This variant has been reported to affect BRCA1 protein function (PMID: 25823446, 30209399). This variant has been observed in two families affected with breast and/or ovarian cancer (PMID: 22762150). It has also been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 267497). This variant is not present in population databases (ExAC no frequency).

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

Last Updated: Oct 8, 2024