NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 15, 2021
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000574685.4
Allele description [Variation Report for NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)]
NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)
- 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>A (p.Cys39Ter)
- HGVS:
- NC_000017.11:g.43115743A>T
- NG_005905.2:g.102241T>A
- NM_001407571.1:c.-72T>A
- NM_001407581.1:c.117T>A
- NM_001407582.1:c.117T>A
- NM_001407583.1:c.117T>A
- NM_001407585.1:c.117T>A
- NM_001407587.1:c.117T>A
- NM_001407590.1:c.117T>A
- NM_001407591.1:c.117T>A
- NM_001407593.1:c.117T>A
- NM_001407594.1:c.117T>A
- NM_001407596.1:c.117T>A
- NM_001407597.1:c.117T>A
- NM_001407598.1:c.117T>A
- NM_001407602.1:c.117T>A
- NM_001407603.1:c.117T>A
- NM_001407605.1:c.117T>A
- NM_001407610.1:c.117T>A
- NM_001407611.1:c.117T>A
- NM_001407612.1:c.117T>A
- NM_001407613.1:c.117T>A
- NM_001407614.1:c.117T>A
- NM_001407615.1:c.117T>A
- NM_001407616.1:c.117T>A
- NM_001407617.1:c.117T>A
- NM_001407618.1:c.117T>A
- NM_001407619.1:c.117T>A
- NM_001407620.1:c.117T>A
- NM_001407621.1:c.117T>A
- NM_001407622.1:c.117T>A
- NM_001407623.1:c.117T>A
- NM_001407624.1:c.117T>A
- NM_001407625.1:c.117T>A
- NM_001407626.1:c.117T>A
- NM_001407627.1:c.117T>A
- NM_001407628.1:c.117T>A
- NM_001407629.1:c.117T>A
- NM_001407630.1:c.117T>A
- NM_001407631.1:c.117T>A
- NM_001407632.1:c.117T>A
- NM_001407633.1:c.117T>A
- NM_001407634.1:c.117T>A
- NM_001407635.1:c.117T>A
- NM_001407636.1:c.117T>A
- NM_001407637.1:c.117T>A
- NM_001407638.1:c.117T>A
- NM_001407639.1:c.117T>A
- NM_001407640.1:c.117T>A
- NM_001407641.1:c.117T>A
- NM_001407642.1:c.117T>A
- NM_001407644.1:c.117T>A
- NM_001407645.1:c.117T>A
- NM_001407646.1:c.117T>A
- NM_001407647.1:c.117T>A
- NM_001407648.1:c.117T>A
- NM_001407649.1:c.117T>A
- NM_001407652.1:c.117T>A
- NM_001407653.1:c.117T>A
- NM_001407654.1:c.117T>A
- NM_001407655.1:c.117T>A
- NM_001407656.1:c.117T>A
- NM_001407657.1:c.117T>A
- NM_001407658.1:c.117T>A
- NM_001407659.1:c.117T>A
- NM_001407660.1:c.117T>A
- NM_001407661.1:c.117T>A
- NM_001407662.1:c.117T>A
- NM_001407663.1:c.117T>A
- NM_001407664.1:c.117T>A
- NM_001407665.1:c.117T>A
- NM_001407666.1:c.117T>A
- NM_001407667.1:c.117T>A
- NM_001407668.1:c.117T>A
- NM_001407669.1:c.117T>A
- NM_001407670.1:c.117T>A
- NM_001407671.1:c.117T>A
- NM_001407672.1:c.117T>A
- NM_001407673.1:c.117T>A
- NM_001407674.1:c.117T>A
- NM_001407675.1:c.117T>A
- NM_001407676.1:c.117T>A
- NM_001407677.1:c.117T>A
- NM_001407678.1:c.117T>A
- NM_001407679.1:c.117T>A
- NM_001407680.1:c.117T>A
- NM_001407681.1:c.117T>A
- NM_001407682.1:c.117T>A
- NM_001407683.1:c.117T>A
- NM_001407684.1:c.117T>A
- NM_001407685.1:c.117T>A
- NM_001407686.1:c.117T>A
- NM_001407687.1:c.117T>A
- NM_001407688.1:c.117T>A
- NM_001407689.1:c.117T>A
- NM_001407690.1:c.117T>A
- NM_001407691.1:c.117T>A
- NM_001407694.1:c.-141T>A
- NM_001407695.1:c.-145T>A
- NM_001407696.1:c.-141T>A
- NM_001407697.1:c.-25T>A
- NM_001407724.1:c.-141T>A
- NM_001407725.1:c.-25T>A
- NM_001407727.1:c.-141T>A
- NM_001407728.1:c.-25T>A
- NM_001407729.1:c.-25T>A
- NM_001407730.1:c.-25T>A
- NM_001407731.1:c.-141T>A
- NM_001407733.1:c.-141T>A
- NM_001407734.1:c.-25T>A
- NM_001407735.1:c.-25T>A
- NM_001407737.1:c.-25T>A
- NM_001407739.1:c.-25T>A
- NM_001407740.1:c.-25T>A
- NM_001407741.1:c.-25T>A
- NM_001407743.1:c.-25T>A
- NM_001407745.1:c.-25T>A
- NM_001407746.1:c.-141T>A
- NM_001407748.1:c.-25T>A
- NM_001407749.1:c.-141T>A
- NM_001407752.1:c.-25T>A
- NM_001407838.1:c.-25T>A
- NM_001407839.1:c.-25T>A
- NM_001407841.1:c.-21T>A
- NM_001407842.1:c.-141T>A
- NM_001407843.1:c.-141T>A
- NM_001407844.1:c.-25T>A
- NM_001407846.1:c.-25T>A
- NM_001407847.1:c.-25T>A
- NM_001407848.1:c.-25T>A
- NM_001407850.1:c.-25T>A
- NM_001407851.1:c.-25T>A
- NM_001407853.1:c.-72T>A
- NM_001407854.1:c.117T>A
- NM_001407858.1:c.117T>A
- NM_001407859.1:c.117T>A
- NM_001407860.1:c.117T>A
- NM_001407861.1:c.117T>A
- NM_001407862.1:c.117T>A
- NM_001407863.1:c.117T>A
- NM_001407874.1:c.117T>A
- NM_001407875.1:c.117T>A
- NM_001407879.1:c.-72T>A
- NM_001407882.1:c.-72T>A
- NM_001407884.1:c.-72T>A
- NM_001407885.1:c.-72T>A
- NM_001407886.1:c.-72T>A
- NM_001407887.1:c.-72T>A
- NM_001407889.1:c.-188T>A
- NM_001407894.1:c.-72T>A
- NM_001407895.1:c.-72T>A
- NM_001407896.1:c.-72T>A
- NM_001407897.1:c.-72T>A
- NM_001407899.1:c.-72T>A
- NM_001407900.1:c.-188T>A
- NM_001407904.1:c.-72T>A
- NM_001407906.1:c.-72T>A
- NM_001407907.1:c.-72T>A
- NM_001407908.1:c.-72T>A
- NM_001407909.1:c.-72T>A
- NM_001407910.1:c.-72T>A
- NM_001407915.1:c.-72T>A
- NM_001407916.1:c.-72T>A
- NM_001407917.1:c.-72T>A
- NM_001407918.1:c.-72T>A
- NM_001407919.1:c.117T>A
- NM_001407920.1:c.-25T>A
- NM_001407921.1:c.-25T>A
- NM_001407922.1:c.-25T>A
- NM_001407923.1:c.-25T>A
- NM_001407926.1:c.-25T>A
- NM_001407927.1:c.-25T>A
- NM_001407930.1:c.-141T>A
- NM_001407933.1:c.-25T>A
- NM_001407934.1:c.-25T>A
- NM_001407935.1:c.-25T>A
- NM_001407937.1:c.117T>A
- NM_001407938.1:c.117T>A
- NM_001407939.1:c.117T>A
- NM_001407940.1:c.117T>A
- NM_001407941.1:c.117T>A
- NM_001407942.1:c.-141T>A
- NM_001407943.1:c.-25T>A
- NM_001407944.1:c.-25T>A
- NM_001407946.1:c.-72T>A
- NM_001407947.1:c.-72T>A
- NM_001407948.1:c.-72T>A
- NM_001407949.1:c.-72T>A
- NM_001407950.1:c.-72T>A
- NM_001407951.1:c.-72T>A
- NM_001407952.1:c.-72T>A
- NM_001407953.1:c.-72T>A
- NM_001407954.1:c.-72T>A
- NM_001407955.1:c.-72T>A
- NM_001407956.1:c.-72T>A
- NM_001407957.1:c.-72T>A
- NM_001407958.1:c.-72T>A
- NM_001407960.1:c.-187T>A
- NM_001407962.1:c.-187T>A
- NM_001407964.1:c.-25T>A
- NM_001407965.1:c.-303T>A
- NM_001407968.1:c.117T>A
- NM_001407969.1:c.117T>A
- NM_001407970.1:c.117T>A
- NM_001407971.1:c.117T>A
- NM_001407972.1:c.117T>A
- NM_001407973.1:c.117T>A
- NM_001407974.1:c.117T>A
- NM_001407975.1:c.117T>A
- NM_001407976.1:c.117T>A
- NM_001407977.1:c.117T>A
- NM_001407978.1:c.117T>A
- NM_001407979.1:c.117T>A
- NM_001407980.1:c.117T>A
- NM_001407981.1:c.117T>A
- NM_001407982.1:c.117T>A
- NM_001407983.1:c.117T>A
- NM_001407984.1:c.117T>A
- NM_001407985.1:c.117T>A
- NM_001407986.1:c.117T>A
- NM_001407990.1:c.117T>A
- NM_001407991.1:c.117T>A
- NM_001407992.1:c.117T>A
- NM_001407993.1:c.117T>A
- NM_001408392.1:c.117T>A
- NM_001408396.1:c.117T>A
- NM_001408397.1:c.117T>A
- NM_001408398.1:c.117T>A
- NM_001408399.1:c.117T>A
- NM_001408400.1:c.117T>A
- NM_001408401.1:c.117T>A
- NM_001408402.1:c.117T>A
- NM_001408403.1:c.117T>A
- NM_001408404.1:c.117T>A
- NM_001408406.1:c.117T>A
- NM_001408407.1:c.117T>A
- NM_001408408.1:c.117T>A
- NM_001408409.1:c.117T>A
- NM_001408410.1:c.-25T>A
- NM_001408411.1:c.117T>A
- NM_001408412.1:c.117T>A
- NM_001408413.1:c.117T>A
- NM_001408414.1:c.117T>A
- NM_001408415.1:c.117T>A
- NM_001408416.1:c.117T>A
- NM_001408418.1:c.117T>A
- NM_001408419.1:c.117T>A
- NM_001408420.1:c.117T>A
- NM_001408421.1:c.117T>A
- NM_001408422.1:c.117T>A
- NM_001408423.1:c.117T>A
- NM_001408424.1:c.117T>A
- NM_001408425.1:c.117T>A
- NM_001408426.1:c.117T>A
- NM_001408427.1:c.117T>A
- NM_001408428.1:c.117T>A
- NM_001408429.1:c.117T>A
- NM_001408430.1:c.117T>A
- NM_001408431.1:c.117T>A
- NM_001408432.1:c.117T>A
- NM_001408433.1:c.117T>A
- NM_001408434.1:c.117T>A
- NM_001408435.1:c.117T>A
- NM_001408436.1:c.117T>A
- NM_001408437.1:c.117T>A
- NM_001408438.1:c.117T>A
- NM_001408439.1:c.117T>A
- NM_001408440.1:c.117T>A
- NM_001408441.1:c.117T>A
- NM_001408442.1:c.117T>A
- NM_001408443.1:c.117T>A
- NM_001408444.1:c.117T>A
- NM_001408445.1:c.117T>A
- NM_001408446.1:c.117T>A
- NM_001408447.1:c.117T>A
- NM_001408448.1:c.117T>A
- NM_001408450.1:c.117T>A
- NM_001408452.1:c.-25T>A
- NM_001408453.1:c.-25T>A
- NM_001408455.1:c.-141T>A
- NM_001408456.1:c.-141T>A
- NM_001408458.1:c.-25T>A
- NM_001408462.1:c.-25T>A
- NM_001408463.1:c.-25T>A
- NM_001408465.1:c.-145T>A
- NM_001408466.1:c.-25T>A
- NM_001408468.1:c.-141T>A
- NM_001408469.1:c.-25T>A
- NM_001408470.1:c.-25T>A
- NM_001408472.1:c.117T>A
- NM_001408473.1:c.117T>A
- NM_001408474.1:c.117T>A
- NM_001408475.1:c.117T>A
- NM_001408476.1:c.117T>A
- NM_001408478.1:c.-72T>A
- NM_001408479.1:c.-72T>A
- NM_001408480.1:c.-72T>A
- NM_001408481.1:c.-72T>A
- NM_001408482.1:c.-72T>A
- NM_001408483.1:c.-72T>A
- NM_001408484.1:c.-72T>A
- NM_001408485.1:c.-72T>A
- NM_001408489.1:c.-72T>A
- NM_001408490.1:c.-72T>A
- NM_001408491.1:c.-72T>A
- NM_001408492.1:c.-188T>A
- NM_001408493.1:c.-72T>A
- NM_001408494.1:c.117T>A
- NM_001408495.1:c.117T>A
- NM_001408497.1:c.-25T>A
- NM_001408499.1:c.-25T>A
- NM_001408500.1:c.-25T>A
- NM_001408501.1:c.-141T>A
- NM_001408502.1:c.-72T>A
- NM_001408503.1:c.-25T>A
- NM_001408504.1:c.-25T>A
- NM_001408505.1:c.-25T>A
- NM_001408506.1:c.-72T>A
- NM_001408507.1:c.-72T>A
- NM_001408508.1:c.-72T>A
- NM_001408509.1:c.-72T>A
- NM_001408510.1:c.-187T>A
- NM_001408512.1:c.-187T>A
- NM_001408513.1:c.-72T>A
- NM_001408514.1:c.-72T>A
- NM_007294.4:c.117T>AMANE SELECT
- NM_007297.4:c.-8+8274T>A
- NM_007298.4:c.117T>A
- NM_007299.4:c.117T>A
- NM_007300.4:c.117T>A
- NM_007304.2:c.117T>A
- NP_001394510.1:p.Cys39Ter
- NP_001394511.1:p.Cys39Ter
- NP_001394512.1:p.Cys39Ter
- NP_001394514.1:p.Cys39Ter
- NP_001394516.1:p.Cys39Ter
- NP_001394519.1:p.Cys39Ter
- NP_001394520.1:p.Cys39Ter
- NP_001394522.1:p.Cys39Ter
- NP_001394523.1:p.Cys39Ter
- NP_001394525.1:p.Cys39Ter
- NP_001394526.1:p.Cys39Ter
- NP_001394527.1:p.Cys39Ter
- NP_001394531.1:p.Cys39Ter
- NP_001394532.1:p.Cys39Ter
- NP_001394534.1:p.Cys39Ter
- NP_001394539.1:p.Cys39Ter
- NP_001394540.1:p.Cys39Ter
- NP_001394541.1:p.Cys39Ter
- NP_001394542.1:p.Cys39Ter
- NP_001394543.1:p.Cys39Ter
- NP_001394544.1:p.Cys39Ter
- NP_001394545.1:p.Cys39Ter
- NP_001394546.1:p.Cys39Ter
- NP_001394547.1:p.Cys39Ter
- NP_001394548.1:p.Cys39Ter
- NP_001394549.1:p.Cys39Ter
- NP_001394550.1:p.Cys39Ter
- NP_001394551.1:p.Cys39Ter
- NP_001394552.1:p.Cys39Ter
- NP_001394553.1:p.Cys39Ter
- NP_001394554.1:p.Cys39Ter
- NP_001394555.1:p.Cys39Ter
- NP_001394556.1:p.Cys39Ter
- NP_001394557.1:p.Cys39Ter
- NP_001394558.1:p.Cys39Ter
- NP_001394559.1:p.Cys39Ter
- NP_001394560.1:p.Cys39Ter
- NP_001394561.1:p.Cys39Ter
- NP_001394562.1:p.Cys39Ter
- NP_001394563.1:p.Cys39Ter
- NP_001394564.1:p.Cys39Ter
- NP_001394565.1:p.Cys39Ter
- NP_001394566.1:p.Cys39Ter
- NP_001394567.1:p.Cys39Ter
- NP_001394568.1:p.Cys39Ter
- NP_001394569.1:p.Cys39Ter
- NP_001394570.1:p.Cys39Ter
- NP_001394571.1:p.Cys39Ter
- NP_001394573.1:p.Cys39Ter
- NP_001394574.1:p.Cys39Ter
- NP_001394575.1:p.Cys39Ter
- NP_001394576.1:p.Cys39Ter
- NP_001394577.1:p.Cys39Ter
- NP_001394578.1:p.Cys39Ter
- NP_001394581.1:p.Cys39Ter
- NP_001394582.1:p.Cys39Ter
- NP_001394583.1:p.Cys39Ter
- NP_001394584.1:p.Cys39Ter
- NP_001394585.1:p.Cys39Ter
- NP_001394586.1:p.Cys39Ter
- NP_001394587.1:p.Cys39Ter
- NP_001394588.1:p.Cys39Ter
- NP_001394589.1:p.Cys39Ter
- NP_001394590.1:p.Cys39Ter
- NP_001394591.1:p.Cys39Ter
- NP_001394592.1:p.Cys39Ter
- NP_001394593.1:p.Cys39Ter
- NP_001394594.1:p.Cys39Ter
- NP_001394595.1:p.Cys39Ter
- NP_001394596.1:p.Cys39Ter
- NP_001394597.1:p.Cys39Ter
- NP_001394598.1:p.Cys39Ter
- NP_001394599.1:p.Cys39Ter
- NP_001394600.1:p.Cys39Ter
- NP_001394601.1:p.Cys39Ter
- NP_001394602.1:p.Cys39Ter
- NP_001394603.1:p.Cys39Ter
- NP_001394604.1:p.Cys39Ter
- NP_001394605.1:p.Cys39Ter
- NP_001394606.1:p.Cys39Ter
- NP_001394607.1:p.Cys39Ter
- NP_001394608.1:p.Cys39Ter
- NP_001394609.1:p.Cys39Ter
- NP_001394610.1:p.Cys39Ter
- NP_001394611.1:p.Cys39Ter
- NP_001394612.1:p.Cys39Ter
- NP_001394613.1:p.Cys39Ter
- NP_001394614.1:p.Cys39Ter
- NP_001394615.1:p.Cys39Ter
- NP_001394616.1:p.Cys39Ter
- NP_001394617.1:p.Cys39Ter
- NP_001394618.1:p.Cys39Ter
- NP_001394619.1:p.Cys39Ter
- NP_001394620.1:p.Cys39Ter
- NP_001394783.1:p.Cys39Ter
- NP_001394787.1:p.Cys39Ter
- NP_001394788.1:p.Cys39Ter
- NP_001394789.1:p.Cys39Ter
- NP_001394790.1:p.Cys39Ter
- NP_001394791.1:p.Cys39Ter
- NP_001394792.1:p.Cys39Ter
- NP_001394803.1:p.Cys39Ter
- NP_001394804.1:p.Cys39Ter
- NP_001394848.1:p.Cys39Ter
- NP_001394866.1:p.Cys39Ter
- NP_001394867.1:p.Cys39Ter
- NP_001394868.1:p.Cys39Ter
- NP_001394869.1:p.Cys39Ter
- NP_001394870.1:p.Cys39Ter
- NP_001394897.1:p.Cys39Ter
- NP_001394898.1:p.Cys39Ter
- NP_001394899.1:p.Cys39Ter
- NP_001394900.1:p.Cys39Ter
- NP_001394901.1:p.Cys39Ter
- NP_001394902.1:p.Cys39Ter
- NP_001394903.1:p.Cys39Ter
- NP_001394904.1:p.Cys39Ter
- NP_001394905.1:p.Cys39Ter
- NP_001394906.1:p.Cys39Ter
- NP_001394907.1:p.Cys39Ter
- NP_001394908.1:p.Cys39Ter
- NP_001394909.1:p.Cys39Ter
- NP_001394910.1:p.Cys39Ter
- NP_001394911.1:p.Cys39Ter
- NP_001394912.1:p.Cys39Ter
- NP_001394913.1:p.Cys39Ter
- NP_001394914.1:p.Cys39Ter
- NP_001394915.1:p.Cys39Ter
- NP_001394919.1:p.Cys39Ter
- NP_001394920.1:p.Cys39Ter
- NP_001394921.1:p.Cys39Ter
- NP_001394922.1:p.Cys39Ter
- NP_001395321.1:p.Cys39Ter
- NP_001395325.1:p.Cys39Ter
- NP_001395326.1:p.Cys39Ter
- NP_001395327.1:p.Cys39Ter
- NP_001395328.1:p.Cys39Ter
- NP_001395329.1:p.Cys39Ter
- NP_001395330.1:p.Cys39Ter
- NP_001395331.1:p.Cys39Ter
- NP_001395332.1:p.Cys39Ter
- NP_001395333.1:p.Cys39Ter
- NP_001395335.1:p.Cys39Ter
- NP_001395336.1:p.Cys39Ter
- NP_001395337.1:p.Cys39Ter
- NP_001395338.1:p.Cys39Ter
- NP_001395340.1:p.Cys39Ter
- NP_001395341.1:p.Cys39Ter
- NP_001395342.1:p.Cys39Ter
- NP_001395343.1:p.Cys39Ter
- NP_001395344.1:p.Cys39Ter
- NP_001395345.1:p.Cys39Ter
- NP_001395347.1:p.Cys39Ter
- NP_001395348.1:p.Cys39Ter
- NP_001395349.1:p.Cys39Ter
- NP_001395350.1:p.Cys39Ter
- NP_001395351.1:p.Cys39Ter
- NP_001395352.1:p.Cys39Ter
- NP_001395353.1:p.Cys39Ter
- NP_001395354.1:p.Cys39Ter
- NP_001395355.1:p.Cys39Ter
- NP_001395356.1:p.Cys39Ter
- NP_001395357.1:p.Cys39Ter
- NP_001395358.1:p.Cys39Ter
- NP_001395359.1:p.Cys39Ter
- NP_001395360.1:p.Cys39Ter
- NP_001395361.1:p.Cys39Ter
- NP_001395362.1:p.Cys39Ter
- NP_001395363.1:p.Cys39Ter
- NP_001395364.1:p.Cys39Ter
- NP_001395365.1:p.Cys39Ter
- NP_001395366.1:p.Cys39Ter
- NP_001395367.1:p.Cys39Ter
- NP_001395368.1:p.Cys39Ter
- NP_001395369.1:p.Cys39Ter
- NP_001395370.1:p.Cys39Ter
- NP_001395371.1:p.Cys39Ter
- NP_001395372.1:p.Cys39Ter
- NP_001395373.1:p.Cys39Ter
- NP_001395374.1:p.Cys39Ter
- NP_001395375.1:p.Cys39Ter
- NP_001395376.1:p.Cys39Ter
- NP_001395377.1:p.Cys39Ter
- NP_001395379.1:p.Cys39Ter
- NP_001395401.1:p.Cys39Ter
- NP_001395402.1:p.Cys39Ter
- NP_001395403.1:p.Cys39Ter
- NP_001395404.1:p.Cys39Ter
- NP_001395405.1:p.Cys39Ter
- NP_001395423.1:p.Cys39Ter
- NP_001395424.1:p.Cys39Ter
- NP_009225.1:p.Cys39Ter
- NP_009225.1:p.Cys39Ter
- NP_009229.2:p.Cys39Ter
- NP_009229.2:p.Cys39Ter
- NP_009230.2:p.Cys39Ter
- NP_009231.2:p.Cys39Ter
- NP_009235.2:p.Cys39Ter
- LRG_292t1:c.117T>A
- LRG_292:g.102241T>A
- LRG_292p1:p.Cys39Ter
- NC_000017.10:g.41267760A>T
- NM_007294.3:c.117T>A
- NM_007298.3:c.117T>A
- NR_027676.2:n.319T>A
This HGVS expression did not pass validation- Protein change:
- C39*
- Links:
- dbSNP: rs886040898
- NCBI 1000 Genomes Browser:
- rs886040898
- Molecular consequence:
- NM_007297.4:c.-8+8274T>A - intron variant - [Sequence Ontology: SO:0001627]
- NR_027676.2:n.319T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001407581.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407968.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407969.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407970.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407971.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407972.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407973.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407974.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407975.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407976.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407977.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407978.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407979.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407980.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407981.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407982.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407983.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407984.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407985.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407986.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407990.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407991.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407992.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407993.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408392.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408396.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408397.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408398.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408399.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408400.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408401.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408402.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408403.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408404.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408406.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408407.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408408.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408409.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408411.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408412.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408413.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408414.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408415.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408416.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408418.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408419.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408420.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408421.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408422.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408423.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408424.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408425.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408426.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408427.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408428.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408429.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408430.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408431.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408432.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408433.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408434.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408435.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408436.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408437.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408438.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408439.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408440.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408441.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408442.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408443.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408444.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408445.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408446.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408447.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408448.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408450.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408472.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408473.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408474.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408475.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408476.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408494.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408495.1:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007298.4:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007299.4:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- NM_007304.2:c.117T>A - nonsense - [Sequence Ontology: SO:0001587]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.117T>A, a NONSENSE variant, produced a function score of -2.2, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000661102 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Mar 15, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.
Osorio A, Barroso A, Martínez B, Cebrián A, San Román JM, Lobo F, Robledo M, Benítez J.
Br J Cancer. 2000 Apr;82(7):1266-70.
- PMID:
- 10755399
- PMCID:
- PMC2374482
Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, et al.
Hum Mutat. 2003 Oct;22(4):301-12.
- PMID:
- 12955716
Details of each submission
From Ambry Genetics, SCV000661102.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
Description
The p.C39* pathogenic mutation (also known as c.117T>A), located in coding exon 2 of the BRCA1 gene, results from a T to A substitution at nucleotide position 117. This changes the amino acid from a cysteine to a stop codon within coding exon 2. 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). A different alteration resulting in the same stop codon (referred to as either c.117_118delTG or 236_237delTG) has been reported as pathogenic in a family with early onset female breast and ovarian cancers (Osorio A et al. Br. J. Cancer. 2000 Apr;82:1266-70; Díez O et al. Hum Mutat. 2003 Oct;22:301-12; Brown A et al. Sultan Qaboos Univ Med J. 2019 Nov;19:e324-e334). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024