NM_007294.4(BRCA1):c.99A>C (p.Glu33Asp) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 7, 2022
- 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:
- RCV002379634.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.99A>C (p.Glu33Asp)]
NM_007294.4(BRCA1):c.99A>C (p.Glu33Asp)
- 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.99A>C (p.Glu33Asp)
- HGVS:
- NC_000017.11:g.43115761T>G
- NG_005905.2:g.102223A>C
- NM_001407571.1:c.-90A>C
- NM_001407581.1:c.99A>C
- NM_001407582.1:c.99A>C
- NM_001407583.1:c.99A>C
- NM_001407585.1:c.99A>C
- NM_001407587.1:c.99A>C
- NM_001407590.1:c.99A>C
- NM_001407591.1:c.99A>C
- NM_001407593.1:c.99A>C
- NM_001407594.1:c.99A>C
- NM_001407596.1:c.99A>C
- NM_001407597.1:c.99A>C
- NM_001407598.1:c.99A>C
- NM_001407602.1:c.99A>C
- NM_001407603.1:c.99A>C
- NM_001407605.1:c.99A>C
- NM_001407610.1:c.99A>C
- NM_001407611.1:c.99A>C
- NM_001407612.1:c.99A>C
- NM_001407613.1:c.99A>C
- NM_001407614.1:c.99A>C
- NM_001407615.1:c.99A>C
- NM_001407616.1:c.99A>C
- NM_001407617.1:c.99A>C
- NM_001407618.1:c.99A>C
- NM_001407619.1:c.99A>C
- NM_001407620.1:c.99A>C
- NM_001407621.1:c.99A>C
- NM_001407622.1:c.99A>C
- NM_001407623.1:c.99A>C
- NM_001407624.1:c.99A>C
- NM_001407625.1:c.99A>C
- NM_001407626.1:c.99A>C
- NM_001407627.1:c.99A>C
- NM_001407628.1:c.99A>C
- NM_001407629.1:c.99A>C
- NM_001407630.1:c.99A>C
- NM_001407631.1:c.99A>C
- NM_001407632.1:c.99A>C
- NM_001407633.1:c.99A>C
- NM_001407634.1:c.99A>C
- NM_001407635.1:c.99A>C
- NM_001407636.1:c.99A>C
- NM_001407637.1:c.99A>C
- NM_001407638.1:c.99A>C
- NM_001407639.1:c.99A>C
- NM_001407640.1:c.99A>C
- NM_001407641.1:c.99A>C
- NM_001407642.1:c.99A>C
- NM_001407644.1:c.99A>C
- NM_001407645.1:c.99A>C
- NM_001407646.1:c.99A>C
- NM_001407647.1:c.99A>C
- NM_001407648.1:c.99A>C
- NM_001407649.1:c.99A>C
- NM_001407652.1:c.99A>C
- NM_001407653.1:c.99A>C
- NM_001407654.1:c.99A>C
- NM_001407655.1:c.99A>C
- NM_001407656.1:c.99A>C
- NM_001407657.1:c.99A>C
- NM_001407658.1:c.99A>C
- NM_001407659.1:c.99A>C
- NM_001407660.1:c.99A>C
- NM_001407661.1:c.99A>C
- NM_001407662.1:c.99A>C
- NM_001407663.1:c.99A>C
- NM_001407664.1:c.99A>C
- NM_001407665.1:c.99A>C
- NM_001407666.1:c.99A>C
- NM_001407667.1:c.99A>C
- NM_001407668.1:c.99A>C
- NM_001407669.1:c.99A>C
- NM_001407670.1:c.99A>C
- NM_001407671.1:c.99A>C
- NM_001407672.1:c.99A>C
- NM_001407673.1:c.99A>C
- NM_001407674.1:c.99A>C
- NM_001407675.1:c.99A>C
- NM_001407676.1:c.99A>C
- NM_001407677.1:c.99A>C
- NM_001407678.1:c.99A>C
- NM_001407679.1:c.99A>C
- NM_001407680.1:c.99A>C
- NM_001407681.1:c.99A>C
- NM_001407682.1:c.99A>C
- NM_001407683.1:c.99A>C
- NM_001407684.1:c.99A>C
- NM_001407685.1:c.99A>C
- NM_001407686.1:c.99A>C
- NM_001407687.1:c.99A>C
- NM_001407688.1:c.99A>C
- NM_001407689.1:c.99A>C
- NM_001407690.1:c.99A>C
- NM_001407691.1:c.99A>C
- NM_001407694.1:c.-159A>C
- NM_001407695.1:c.-163A>C
- NM_001407696.1:c.-159A>C
- NM_001407697.1:c.-43A>C
- NM_001407724.1:c.-159A>C
- NM_001407725.1:c.-43A>C
- NM_001407727.1:c.-159A>C
- NM_001407728.1:c.-43A>C
- NM_001407729.1:c.-43A>C
- NM_001407730.1:c.-43A>C
- NM_001407731.1:c.-159A>C
- NM_001407733.1:c.-159A>C
- NM_001407734.1:c.-43A>C
- NM_001407735.1:c.-43A>C
- NM_001407737.1:c.-43A>C
- NM_001407739.1:c.-43A>C
- NM_001407740.1:c.-43A>C
- NM_001407741.1:c.-43A>C
- NM_001407743.1:c.-43A>C
- NM_001407745.1:c.-43A>C
- NM_001407746.1:c.-159A>C
- NM_001407748.1:c.-43A>C
- NM_001407749.1:c.-159A>C
- NM_001407752.1:c.-43A>C
- NM_001407838.1:c.-43A>C
- NM_001407839.1:c.-43A>C
- NM_001407841.1:c.-39A>C
- NM_001407842.1:c.-159A>C
- NM_001407843.1:c.-159A>C
- NM_001407844.1:c.-43A>C
- NM_001407846.1:c.-43A>C
- NM_001407847.1:c.-43A>C
- NM_001407848.1:c.-43A>C
- NM_001407850.1:c.-43A>C
- NM_001407851.1:c.-43A>C
- NM_001407853.1:c.-90A>C
- NM_001407854.1:c.99A>C
- NM_001407858.1:c.99A>C
- NM_001407859.1:c.99A>C
- NM_001407860.1:c.99A>C
- NM_001407861.1:c.99A>C
- NM_001407862.1:c.99A>C
- NM_001407863.1:c.99A>C
- NM_001407874.1:c.99A>C
- NM_001407875.1:c.99A>C
- NM_001407879.1:c.-90A>C
- NM_001407882.1:c.-90A>C
- NM_001407884.1:c.-90A>C
- NM_001407885.1:c.-90A>C
- NM_001407886.1:c.-90A>C
- NM_001407887.1:c.-90A>C
- NM_001407889.1:c.-206A>C
- NM_001407894.1:c.-90A>C
- NM_001407895.1:c.-90A>C
- NM_001407896.1:c.-90A>C
- NM_001407897.1:c.-90A>C
- NM_001407899.1:c.-90A>C
- NM_001407900.1:c.-206A>C
- NM_001407904.1:c.-90A>C
- NM_001407906.1:c.-90A>C
- NM_001407907.1:c.-90A>C
- NM_001407908.1:c.-90A>C
- NM_001407909.1:c.-90A>C
- NM_001407910.1:c.-90A>C
- NM_001407915.1:c.-90A>C
- NM_001407916.1:c.-90A>C
- NM_001407917.1:c.-90A>C
- NM_001407918.1:c.-90A>C
- NM_001407919.1:c.99A>C
- NM_001407920.1:c.-43A>C
- NM_001407921.1:c.-43A>C
- NM_001407922.1:c.-43A>C
- NM_001407923.1:c.-43A>C
- NM_001407926.1:c.-43A>C
- NM_001407927.1:c.-43A>C
- NM_001407930.1:c.-159A>C
- NM_001407933.1:c.-43A>C
- NM_001407934.1:c.-43A>C
- NM_001407935.1:c.-43A>C
- NM_001407937.1:c.99A>C
- NM_001407938.1:c.99A>C
- NM_001407939.1:c.99A>C
- NM_001407940.1:c.99A>C
- NM_001407941.1:c.99A>C
- NM_001407942.1:c.-159A>C
- NM_001407943.1:c.-43A>C
- NM_001407944.1:c.-43A>C
- NM_001407946.1:c.-90A>C
- NM_001407947.1:c.-90A>C
- NM_001407948.1:c.-90A>C
- NM_001407949.1:c.-90A>C
- NM_001407950.1:c.-90A>C
- NM_001407951.1:c.-90A>C
- NM_001407952.1:c.-90A>C
- NM_001407953.1:c.-90A>C
- NM_001407954.1:c.-90A>C
- NM_001407955.1:c.-90A>C
- NM_001407956.1:c.-90A>C
- NM_001407957.1:c.-90A>C
- NM_001407958.1:c.-90A>C
- NM_001407960.1:c.-205A>C
- NM_001407962.1:c.-205A>C
- NM_001407964.1:c.-43A>C
- NM_001407965.1:c.-321A>C
- NM_001407968.1:c.99A>C
- NM_001407969.1:c.99A>C
- NM_001407970.1:c.99A>C
- NM_001407971.1:c.99A>C
- NM_001407972.1:c.99A>C
- NM_001407973.1:c.99A>C
- NM_001407974.1:c.99A>C
- NM_001407975.1:c.99A>C
- NM_001407976.1:c.99A>C
- NM_001407977.1:c.99A>C
- NM_001407978.1:c.99A>C
- NM_001407979.1:c.99A>C
- NM_001407980.1:c.99A>C
- NM_001407981.1:c.99A>C
- NM_001407982.1:c.99A>C
- NM_001407983.1:c.99A>C
- NM_001407984.1:c.99A>C
- NM_001407985.1:c.99A>C
- NM_001407986.1:c.99A>C
- NM_001407990.1:c.99A>C
- NM_001407991.1:c.99A>C
- NM_001407992.1:c.99A>C
- NM_001407993.1:c.99A>C
- NM_001408392.1:c.99A>C
- NM_001408396.1:c.99A>C
- NM_001408397.1:c.99A>C
- NM_001408398.1:c.99A>C
- NM_001408399.1:c.99A>C
- NM_001408400.1:c.99A>C
- NM_001408401.1:c.99A>C
- NM_001408402.1:c.99A>C
- NM_001408403.1:c.99A>C
- NM_001408404.1:c.99A>C
- NM_001408406.1:c.99A>C
- NM_001408407.1:c.99A>C
- NM_001408408.1:c.99A>C
- NM_001408409.1:c.99A>C
- NM_001408410.1:c.-43A>C
- NM_001408411.1:c.99A>C
- NM_001408412.1:c.99A>C
- NM_001408413.1:c.99A>C
- NM_001408414.1:c.99A>C
- NM_001408415.1:c.99A>C
- NM_001408416.1:c.99A>C
- NM_001408418.1:c.99A>C
- NM_001408419.1:c.99A>C
- NM_001408420.1:c.99A>C
- NM_001408421.1:c.99A>C
- NM_001408422.1:c.99A>C
- NM_001408423.1:c.99A>C
- NM_001408424.1:c.99A>C
- NM_001408425.1:c.99A>C
- NM_001408426.1:c.99A>C
- NM_001408427.1:c.99A>C
- NM_001408428.1:c.99A>C
- NM_001408429.1:c.99A>C
- NM_001408430.1:c.99A>C
- NM_001408431.1:c.99A>C
- NM_001408432.1:c.99A>C
- NM_001408433.1:c.99A>C
- NM_001408434.1:c.99A>C
- NM_001408435.1:c.99A>C
- NM_001408436.1:c.99A>C
- NM_001408437.1:c.99A>C
- NM_001408438.1:c.99A>C
- NM_001408439.1:c.99A>C
- NM_001408440.1:c.99A>C
- NM_001408441.1:c.99A>C
- NM_001408442.1:c.99A>C
- NM_001408443.1:c.99A>C
- NM_001408444.1:c.99A>C
- NM_001408445.1:c.99A>C
- NM_001408446.1:c.99A>C
- NM_001408447.1:c.99A>C
- NM_001408448.1:c.99A>C
- NM_001408450.1:c.99A>C
- NM_001408452.1:c.-43A>C
- NM_001408453.1:c.-43A>C
- NM_001408455.1:c.-159A>C
- NM_001408456.1:c.-159A>C
- NM_001408458.1:c.-43A>C
- NM_001408462.1:c.-43A>C
- NM_001408463.1:c.-43A>C
- NM_001408465.1:c.-163A>C
- NM_001408466.1:c.-43A>C
- NM_001408468.1:c.-159A>C
- NM_001408469.1:c.-43A>C
- NM_001408470.1:c.-43A>C
- NM_001408472.1:c.99A>C
- NM_001408473.1:c.99A>C
- NM_001408474.1:c.99A>C
- NM_001408475.1:c.99A>C
- NM_001408476.1:c.99A>C
- NM_001408478.1:c.-90A>C
- NM_001408479.1:c.-90A>C
- NM_001408480.1:c.-90A>C
- NM_001408481.1:c.-90A>C
- NM_001408482.1:c.-90A>C
- NM_001408483.1:c.-90A>C
- NM_001408484.1:c.-90A>C
- NM_001408485.1:c.-90A>C
- NM_001408489.1:c.-90A>C
- NM_001408490.1:c.-90A>C
- NM_001408491.1:c.-90A>C
- NM_001408492.1:c.-206A>C
- NM_001408493.1:c.-90A>C
- NM_001408494.1:c.99A>C
- NM_001408495.1:c.99A>C
- NM_001408497.1:c.-43A>C
- NM_001408499.1:c.-43A>C
- NM_001408500.1:c.-43A>C
- NM_001408501.1:c.-159A>C
- NM_001408502.1:c.-90A>C
- NM_001408503.1:c.-43A>C
- NM_001408504.1:c.-43A>C
- NM_001408505.1:c.-43A>C
- NM_001408506.1:c.-90A>C
- NM_001408507.1:c.-90A>C
- NM_001408508.1:c.-90A>C
- NM_001408509.1:c.-90A>C
- NM_001408510.1:c.-205A>C
- NM_001408512.1:c.-205A>C
- NM_001408513.1:c.-90A>C
- NM_001408514.1:c.-90A>C
- NM_007294.4:c.99A>CMANE SELECT
- NM_007297.4:c.-8+8256A>C
- NM_007298.4:c.99A>C
- NM_007299.4:c.99A>C
- NM_007300.4:c.99A>C
- NM_007304.2:c.99A>C
- NP_001394510.1:p.Glu33Asp
- NP_001394511.1:p.Glu33Asp
- NP_001394512.1:p.Glu33Asp
- NP_001394514.1:p.Glu33Asp
- NP_001394516.1:p.Glu33Asp
- NP_001394519.1:p.Glu33Asp
- NP_001394520.1:p.Glu33Asp
- NP_001394522.1:p.Glu33Asp
- NP_001394523.1:p.Glu33Asp
- NP_001394525.1:p.Glu33Asp
- NP_001394526.1:p.Glu33Asp
- NP_001394527.1:p.Glu33Asp
- NP_001394531.1:p.Glu33Asp
- NP_001394532.1:p.Glu33Asp
- NP_001394534.1:p.Glu33Asp
- NP_001394539.1:p.Glu33Asp
- NP_001394540.1:p.Glu33Asp
- NP_001394541.1:p.Glu33Asp
- NP_001394542.1:p.Glu33Asp
- NP_001394543.1:p.Glu33Asp
- NP_001394544.1:p.Glu33Asp
- NP_001394545.1:p.Glu33Asp
- NP_001394546.1:p.Glu33Asp
- NP_001394547.1:p.Glu33Asp
- NP_001394548.1:p.Glu33Asp
- NP_001394549.1:p.Glu33Asp
- NP_001394550.1:p.Glu33Asp
- NP_001394551.1:p.Glu33Asp
- NP_001394552.1:p.Glu33Asp
- NP_001394553.1:p.Glu33Asp
- NP_001394554.1:p.Glu33Asp
- NP_001394555.1:p.Glu33Asp
- NP_001394556.1:p.Glu33Asp
- NP_001394557.1:p.Glu33Asp
- NP_001394558.1:p.Glu33Asp
- NP_001394559.1:p.Glu33Asp
- NP_001394560.1:p.Glu33Asp
- NP_001394561.1:p.Glu33Asp
- NP_001394562.1:p.Glu33Asp
- NP_001394563.1:p.Glu33Asp
- NP_001394564.1:p.Glu33Asp
- NP_001394565.1:p.Glu33Asp
- NP_001394566.1:p.Glu33Asp
- NP_001394567.1:p.Glu33Asp
- NP_001394568.1:p.Glu33Asp
- NP_001394569.1:p.Glu33Asp
- NP_001394570.1:p.Glu33Asp
- NP_001394571.1:p.Glu33Asp
- NP_001394573.1:p.Glu33Asp
- NP_001394574.1:p.Glu33Asp
- NP_001394575.1:p.Glu33Asp
- NP_001394576.1:p.Glu33Asp
- NP_001394577.1:p.Glu33Asp
- NP_001394578.1:p.Glu33Asp
- NP_001394581.1:p.Glu33Asp
- NP_001394582.1:p.Glu33Asp
- NP_001394583.1:p.Glu33Asp
- NP_001394584.1:p.Glu33Asp
- NP_001394585.1:p.Glu33Asp
- NP_001394586.1:p.Glu33Asp
- NP_001394587.1:p.Glu33Asp
- NP_001394588.1:p.Glu33Asp
- NP_001394589.1:p.Glu33Asp
- NP_001394590.1:p.Glu33Asp
- NP_001394591.1:p.Glu33Asp
- NP_001394592.1:p.Glu33Asp
- NP_001394593.1:p.Glu33Asp
- NP_001394594.1:p.Glu33Asp
- NP_001394595.1:p.Glu33Asp
- NP_001394596.1:p.Glu33Asp
- NP_001394597.1:p.Glu33Asp
- NP_001394598.1:p.Glu33Asp
- NP_001394599.1:p.Glu33Asp
- NP_001394600.1:p.Glu33Asp
- NP_001394601.1:p.Glu33Asp
- NP_001394602.1:p.Glu33Asp
- NP_001394603.1:p.Glu33Asp
- NP_001394604.1:p.Glu33Asp
- NP_001394605.1:p.Glu33Asp
- NP_001394606.1:p.Glu33Asp
- NP_001394607.1:p.Glu33Asp
- NP_001394608.1:p.Glu33Asp
- NP_001394609.1:p.Glu33Asp
- NP_001394610.1:p.Glu33Asp
- NP_001394611.1:p.Glu33Asp
- NP_001394612.1:p.Glu33Asp
- NP_001394613.1:p.Glu33Asp
- NP_001394614.1:p.Glu33Asp
- NP_001394615.1:p.Glu33Asp
- NP_001394616.1:p.Glu33Asp
- NP_001394617.1:p.Glu33Asp
- NP_001394618.1:p.Glu33Asp
- NP_001394619.1:p.Glu33Asp
- NP_001394620.1:p.Glu33Asp
- NP_001394783.1:p.Glu33Asp
- NP_001394787.1:p.Glu33Asp
- NP_001394788.1:p.Glu33Asp
- NP_001394789.1:p.Glu33Asp
- NP_001394790.1:p.Glu33Asp
- NP_001394791.1:p.Glu33Asp
- NP_001394792.1:p.Glu33Asp
- NP_001394803.1:p.Glu33Asp
- NP_001394804.1:p.Glu33Asp
- NP_001394848.1:p.Glu33Asp
- NP_001394866.1:p.Glu33Asp
- NP_001394867.1:p.Glu33Asp
- NP_001394868.1:p.Glu33Asp
- NP_001394869.1:p.Glu33Asp
- NP_001394870.1:p.Glu33Asp
- NP_001394897.1:p.Glu33Asp
- NP_001394898.1:p.Glu33Asp
- NP_001394899.1:p.Glu33Asp
- NP_001394900.1:p.Glu33Asp
- NP_001394901.1:p.Glu33Asp
- NP_001394902.1:p.Glu33Asp
- NP_001394903.1:p.Glu33Asp
- NP_001394904.1:p.Glu33Asp
- NP_001394905.1:p.Glu33Asp
- NP_001394906.1:p.Glu33Asp
- NP_001394907.1:p.Glu33Asp
- NP_001394908.1:p.Glu33Asp
- NP_001394909.1:p.Glu33Asp
- NP_001394910.1:p.Glu33Asp
- NP_001394911.1:p.Glu33Asp
- NP_001394912.1:p.Glu33Asp
- NP_001394913.1:p.Glu33Asp
- NP_001394914.1:p.Glu33Asp
- NP_001394915.1:p.Glu33Asp
- NP_001394919.1:p.Glu33Asp
- NP_001394920.1:p.Glu33Asp
- NP_001394921.1:p.Glu33Asp
- NP_001394922.1:p.Glu33Asp
- NP_001395321.1:p.Glu33Asp
- NP_001395325.1:p.Glu33Asp
- NP_001395326.1:p.Glu33Asp
- NP_001395327.1:p.Glu33Asp
- NP_001395328.1:p.Glu33Asp
- NP_001395329.1:p.Glu33Asp
- NP_001395330.1:p.Glu33Asp
- NP_001395331.1:p.Glu33Asp
- NP_001395332.1:p.Glu33Asp
- NP_001395333.1:p.Glu33Asp
- NP_001395335.1:p.Glu33Asp
- NP_001395336.1:p.Glu33Asp
- NP_001395337.1:p.Glu33Asp
- NP_001395338.1:p.Glu33Asp
- NP_001395340.1:p.Glu33Asp
- NP_001395341.1:p.Glu33Asp
- NP_001395342.1:p.Glu33Asp
- NP_001395343.1:p.Glu33Asp
- NP_001395344.1:p.Glu33Asp
- NP_001395345.1:p.Glu33Asp
- NP_001395347.1:p.Glu33Asp
- NP_001395348.1:p.Glu33Asp
- NP_001395349.1:p.Glu33Asp
- NP_001395350.1:p.Glu33Asp
- NP_001395351.1:p.Glu33Asp
- NP_001395352.1:p.Glu33Asp
- NP_001395353.1:p.Glu33Asp
- NP_001395354.1:p.Glu33Asp
- NP_001395355.1:p.Glu33Asp
- NP_001395356.1:p.Glu33Asp
- NP_001395357.1:p.Glu33Asp
- NP_001395358.1:p.Glu33Asp
- NP_001395359.1:p.Glu33Asp
- NP_001395360.1:p.Glu33Asp
- NP_001395361.1:p.Glu33Asp
- NP_001395362.1:p.Glu33Asp
- NP_001395363.1:p.Glu33Asp
- NP_001395364.1:p.Glu33Asp
- NP_001395365.1:p.Glu33Asp
- NP_001395366.1:p.Glu33Asp
- NP_001395367.1:p.Glu33Asp
- NP_001395368.1:p.Glu33Asp
- NP_001395369.1:p.Glu33Asp
- NP_001395370.1:p.Glu33Asp
- NP_001395371.1:p.Glu33Asp
- NP_001395372.1:p.Glu33Asp
- NP_001395373.1:p.Glu33Asp
- NP_001395374.1:p.Glu33Asp
- NP_001395375.1:p.Glu33Asp
- NP_001395376.1:p.Glu33Asp
- NP_001395377.1:p.Glu33Asp
- NP_001395379.1:p.Glu33Asp
- NP_001395401.1:p.Glu33Asp
- NP_001395402.1:p.Glu33Asp
- NP_001395403.1:p.Glu33Asp
- NP_001395404.1:p.Glu33Asp
- NP_001395405.1:p.Glu33Asp
- NP_001395423.1:p.Glu33Asp
- NP_001395424.1:p.Glu33Asp
- NP_009225.1:p.Glu33Asp
- NP_009225.1:p.Glu33Asp
- NP_009229.2:p.Glu33Asp
- NP_009229.2:p.Glu33Asp
- NP_009230.2:p.Glu33Asp
- NP_009231.2:p.Glu33Asp
- NP_009235.2:p.Glu33Asp
- LRG_292t1:c.99A>C
- LRG_292:g.102223A>C
- LRG_292p1:p.Glu33Asp
- NC_000017.10:g.41267778T>G
- NM_007294.3:c.99A>C
- NM_007298.3:c.99A>C
- NR_027676.2:n.301A>C
This HGVS expression did not pass validation- Protein change:
- E33D
- Links:
- dbSNP: rs2055257088
- NCBI 1000 Genomes Browser:
- rs2055257088
- Molecular consequence:
- NM_007297.4:c.-8+8256A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.99A>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.301A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.99A>C, a MISSENSE variant, produced a function score of -0.26, corresponding to a functional classification of FUNCTIONAL. 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
-
Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells ...
Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha, mRNA (cDNA clone MGC:2289 IMAGE:3161686), complete cdsgi|33876916|gb|BC002601.2|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002688938 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Oct 7, 2022) | 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
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Ambry Genetics, SCV002688938.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | 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: Jun 23, 2024