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NM_007294.4(BRCA1):c.122del (p.His41fs) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000577321.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.122del (p.His41fs)]

NM_007294.4(BRCA1):c.122del (p.His41fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.122del (p.His41fs)
HGVS:
  • NC_000017.11:g.43115738del
  • NG_005905.2:g.102246del
  • NM_001407571.1:c.-67delA
  • NM_001407581.1:c.122delA
  • NM_001407582.1:c.122delA
  • NM_001407583.1:c.122delA
  • NM_001407585.1:c.122delA
  • NM_001407587.1:c.122delA
  • NM_001407590.1:c.122delA
  • NM_001407591.1:c.122delA
  • NM_001407593.1:c.122delA
  • NM_001407594.1:c.122delA
  • NM_001407596.1:c.122delA
  • NM_001407597.1:c.122delA
  • NM_001407598.1:c.122delA
  • NM_001407602.1:c.122delA
  • NM_001407603.1:c.122delA
  • NM_001407605.1:c.122delA
  • NM_001407610.1:c.122delA
  • NM_001407611.1:c.122delA
  • NM_001407612.1:c.122delA
  • NM_001407613.1:c.122delA
  • NM_001407614.1:c.122delA
  • NM_001407615.1:c.122delA
  • NM_001407616.1:c.122delA
  • NM_001407617.1:c.122delA
  • NM_001407618.1:c.122delA
  • NM_001407619.1:c.122delA
  • NM_001407620.1:c.122delA
  • NM_001407621.1:c.122delA
  • NM_001407622.1:c.122delA
  • NM_001407623.1:c.122delA
  • NM_001407624.1:c.122delA
  • NM_001407625.1:c.122delA
  • NM_001407626.1:c.122delA
  • NM_001407627.1:c.122delA
  • NM_001407628.1:c.122delA
  • NM_001407629.1:c.122delA
  • NM_001407630.1:c.122delA
  • NM_001407631.1:c.122delA
  • NM_001407632.1:c.122delA
  • NM_001407633.1:c.122delA
  • NM_001407634.1:c.122delA
  • NM_001407635.1:c.122delA
  • NM_001407636.1:c.122delA
  • NM_001407637.1:c.122delA
  • NM_001407638.1:c.122delA
  • NM_001407639.1:c.122delA
  • NM_001407640.1:c.122delA
  • NM_001407641.1:c.122delA
  • NM_001407642.1:c.122delA
  • NM_001407644.1:c.122delA
  • NM_001407645.1:c.122delA
  • NM_001407646.1:c.122delA
  • NM_001407647.1:c.122delA
  • NM_001407648.1:c.122delA
  • NM_001407649.1:c.122delA
  • NM_001407652.1:c.122delA
  • NM_001407653.1:c.122delA
  • NM_001407654.1:c.122delA
  • NM_001407655.1:c.122delA
  • NM_001407656.1:c.122delA
  • NM_001407657.1:c.122delA
  • NM_001407658.1:c.122delA
  • NM_001407659.1:c.122delA
  • NM_001407660.1:c.122delA
  • NM_001407661.1:c.122delA
  • NM_001407662.1:c.122delA
  • NM_001407663.1:c.122delA
  • NM_001407664.1:c.122delA
  • NM_001407665.1:c.122delA
  • NM_001407666.1:c.122delA
  • NM_001407667.1:c.122delA
  • NM_001407668.1:c.122delA
  • NM_001407669.1:c.122delA
  • NM_001407670.1:c.122delA
  • NM_001407671.1:c.122delA
  • NM_001407672.1:c.122delA
  • NM_001407673.1:c.122delA
  • NM_001407674.1:c.122delA
  • NM_001407675.1:c.122delA
  • NM_001407676.1:c.122delA
  • NM_001407677.1:c.122delA
  • NM_001407678.1:c.122delA
  • NM_001407679.1:c.122delA
  • NM_001407680.1:c.122delA
  • NM_001407681.1:c.122delA
  • NM_001407682.1:c.122delA
  • NM_001407683.1:c.122delA
  • NM_001407684.1:c.122delA
  • NM_001407685.1:c.122delA
  • NM_001407686.1:c.122delA
  • NM_001407687.1:c.122delA
  • NM_001407688.1:c.122delA
  • NM_001407689.1:c.122delA
  • NM_001407690.1:c.122delA
  • NM_001407691.1:c.122delA
  • NM_001407694.1:c.-136delA
  • NM_001407695.1:c.-140delA
  • NM_001407696.1:c.-136delA
  • NM_001407697.1:c.-20delA
  • NM_001407724.1:c.-136delA
  • NM_001407725.1:c.-20delA
  • NM_001407727.1:c.-136delA
  • NM_001407728.1:c.-20delA
  • NM_001407729.1:c.-20delA
  • NM_001407730.1:c.-20delA
  • NM_001407731.1:c.-136delA
  • NM_001407733.1:c.-136delA
  • NM_001407734.1:c.-20delA
  • NM_001407735.1:c.-20delA
  • NM_001407737.1:c.-20delA
  • NM_001407739.1:c.-20delA
  • NM_001407740.1:c.-20delA
  • NM_001407741.1:c.-20delA
  • NM_001407743.1:c.-20delA
  • NM_001407745.1:c.-20delA
  • NM_001407746.1:c.-136delA
  • NM_001407748.1:c.-20delA
  • NM_001407749.1:c.-136delA
  • NM_001407752.1:c.-20delA
  • NM_001407838.1:c.-20delA
  • NM_001407839.1:c.-20delA
  • NM_001407841.1:c.-16delA
  • NM_001407842.1:c.-136delA
  • NM_001407843.1:c.-136delA
  • NM_001407844.1:c.-20delA
  • NM_001407846.1:c.-20delA
  • NM_001407847.1:c.-20delA
  • NM_001407848.1:c.-20delA
  • NM_001407850.1:c.-20delA
  • NM_001407851.1:c.-20delA
  • NM_001407853.1:c.-67delA
  • NM_001407854.1:c.122delA
  • NM_001407858.1:c.122delA
  • NM_001407859.1:c.122delA
  • NM_001407860.1:c.122delA
  • NM_001407861.1:c.122delA
  • NM_001407862.1:c.122delA
  • NM_001407863.1:c.122delA
  • NM_001407874.1:c.122delA
  • NM_001407875.1:c.122delA
  • NM_001407879.1:c.-67delA
  • NM_001407882.1:c.-67delA
  • NM_001407884.1:c.-67delA
  • NM_001407885.1:c.-67delA
  • NM_001407886.1:c.-67delA
  • NM_001407887.1:c.-67delA
  • NM_001407889.1:c.-183delA
  • NM_001407894.1:c.-67delA
  • NM_001407895.1:c.-67delA
  • NM_001407896.1:c.-67delA
  • NM_001407897.1:c.-67delA
  • NM_001407899.1:c.-67delA
  • NM_001407900.1:c.-183delA
  • NM_001407904.1:c.-67delA
  • NM_001407906.1:c.-67delA
  • NM_001407907.1:c.-67delA
  • NM_001407908.1:c.-67delA
  • NM_001407909.1:c.-67delA
  • NM_001407910.1:c.-67delA
  • NM_001407915.1:c.-67delA
  • NM_001407916.1:c.-67delA
  • NM_001407917.1:c.-67delA
  • NM_001407918.1:c.-67delA
  • NM_001407919.1:c.122delA
  • NM_001407920.1:c.-20delA
  • NM_001407921.1:c.-20delA
  • NM_001407922.1:c.-20delA
  • NM_001407923.1:c.-20delA
  • NM_001407926.1:c.-20delA
  • NM_001407927.1:c.-20delA
  • NM_001407930.1:c.-136delA
  • NM_001407933.1:c.-20delA
  • NM_001407934.1:c.-20delA
  • NM_001407935.1:c.-20delA
  • NM_001407937.1:c.122delA
  • NM_001407938.1:c.122delA
  • NM_001407939.1:c.122delA
  • NM_001407940.1:c.122delA
  • NM_001407941.1:c.122delA
  • NM_001407942.1:c.-136delA
  • NM_001407943.1:c.-20delA
  • NM_001407944.1:c.-20delA
  • NM_001407946.1:c.-67delA
  • NM_001407947.1:c.-67delA
  • NM_001407948.1:c.-67delA
  • NM_001407949.1:c.-67delA
  • NM_001407950.1:c.-67delA
  • NM_001407951.1:c.-67delA
  • NM_001407952.1:c.-67delA
  • NM_001407953.1:c.-67delA
  • NM_001407954.1:c.-67delA
  • NM_001407955.1:c.-67delA
  • NM_001407956.1:c.-67delA
  • NM_001407957.1:c.-67delA
  • NM_001407958.1:c.-67delA
  • NM_001407960.1:c.-182delA
  • NM_001407962.1:c.-182delA
  • NM_001407964.1:c.-20delA
  • NM_001407965.1:c.-298delA
  • NM_001407968.1:c.122delA
  • NM_001407969.1:c.122delA
  • NM_001407970.1:c.122delA
  • NM_001407971.1:c.122delA
  • NM_001407972.1:c.122delA
  • NM_001407973.1:c.122delA
  • NM_001407974.1:c.122delA
  • NM_001407975.1:c.122delA
  • NM_001407976.1:c.122delA
  • NM_001407977.1:c.122delA
  • NM_001407978.1:c.122delA
  • NM_001407979.1:c.122delA
  • NM_001407980.1:c.122delA
  • NM_001407981.1:c.122delA
  • NM_001407982.1:c.122delA
  • NM_001407983.1:c.122delA
  • NM_001407984.1:c.122delA
  • NM_001407985.1:c.122delA
  • NM_001407986.1:c.122delA
  • NM_001407990.1:c.122delA
  • NM_001407991.1:c.122delA
  • NM_001407992.1:c.122delA
  • NM_001407993.1:c.122delA
  • NM_001408392.1:c.122delA
  • NM_001408396.1:c.122delA
  • NM_001408397.1:c.122delA
  • NM_001408398.1:c.122delA
  • NM_001408399.1:c.122delA
  • NM_001408400.1:c.122delA
  • NM_001408401.1:c.122delA
  • NM_001408402.1:c.122delA
  • NM_001408403.1:c.122delA
  • NM_001408404.1:c.122delA
  • NM_001408406.1:c.122delA
  • NM_001408407.1:c.122delA
  • NM_001408408.1:c.122delA
  • NM_001408409.1:c.122delA
  • NM_001408410.1:c.-20delA
  • NM_001408411.1:c.122delA
  • NM_001408412.1:c.122delA
  • NM_001408413.1:c.122delA
  • NM_001408414.1:c.122delA
  • NM_001408415.1:c.122delA
  • NM_001408416.1:c.122delA
  • NM_001408418.1:c.122delA
  • NM_001408419.1:c.122delA
  • NM_001408420.1:c.122delA
  • NM_001408421.1:c.122delA
  • NM_001408422.1:c.122delA
  • NM_001408423.1:c.122delA
  • NM_001408424.1:c.122delA
  • NM_001408425.1:c.122delA
  • NM_001408426.1:c.122delA
  • NM_001408427.1:c.122delA
  • NM_001408428.1:c.122delA
  • NM_001408429.1:c.122delA
  • NM_001408430.1:c.122delA
  • NM_001408431.1:c.122delA
  • NM_001408432.1:c.122delA
  • NM_001408433.1:c.122delA
  • NM_001408434.1:c.122delA
  • NM_001408435.1:c.122delA
  • NM_001408436.1:c.122delA
  • NM_001408437.1:c.122delA
  • NM_001408438.1:c.122delA
  • NM_001408439.1:c.122delA
  • NM_001408440.1:c.122delA
  • NM_001408441.1:c.122delA
  • NM_001408442.1:c.122delA
  • NM_001408443.1:c.122delA
  • NM_001408444.1:c.122delA
  • NM_001408445.1:c.122delA
  • NM_001408446.1:c.122delA
  • NM_001408447.1:c.122delA
  • NM_001408448.1:c.122delA
  • NM_001408450.1:c.122delA
  • NM_001408452.1:c.-20delA
  • NM_001408453.1:c.-20delA
  • NM_001408455.1:c.-136delA
  • NM_001408456.1:c.-136delA
  • NM_001408458.1:c.-20delA
  • NM_001408462.1:c.-20delA
  • NM_001408463.1:c.-20delA
  • NM_001408465.1:c.-140delA
  • NM_001408466.1:c.-20delA
  • NM_001408468.1:c.-136delA
  • NM_001408469.1:c.-20delA
  • NM_001408470.1:c.-20delA
  • NM_001408472.1:c.122delA
  • NM_001408473.1:c.122delA
  • NM_001408474.1:c.122delA
  • NM_001408475.1:c.122delA
  • NM_001408476.1:c.122delA
  • NM_001408478.1:c.-67delA
  • NM_001408479.1:c.-67delA
  • NM_001408480.1:c.-67delA
  • NM_001408481.1:c.-67delA
  • NM_001408482.1:c.-67delA
  • NM_001408483.1:c.-67delA
  • NM_001408484.1:c.-67delA
  • NM_001408485.1:c.-67delA
  • NM_001408489.1:c.-67delA
  • NM_001408490.1:c.-67delA
  • NM_001408491.1:c.-67delA
  • NM_001408492.1:c.-183delA
  • NM_001408493.1:c.-67delA
  • NM_001408494.1:c.122delA
  • NM_001408495.1:c.122delA
  • NM_001408497.1:c.-20delA
  • NM_001408499.1:c.-20delA
  • NM_001408500.1:c.-20delA
  • NM_001408501.1:c.-136delA
  • NM_001408502.1:c.-67delA
  • NM_001408503.1:c.-20delA
  • NM_001408504.1:c.-20delA
  • NM_001408505.1:c.-20delA
  • NM_001408506.1:c.-67delA
  • NM_001408507.1:c.-67delA
  • NM_001408508.1:c.-67delA
  • NM_001408509.1:c.-67delA
  • NM_001408510.1:c.-182delA
  • NM_001408512.1:c.-182delA
  • NM_001408513.1:c.-67delA
  • NM_001408514.1:c.-67delA
  • NM_007294.4:c.122delMANE SELECT
  • NM_007297.4:c.-8+8279del
  • NM_007298.4:c.122delA
  • NM_007299.4:c.122del
  • NM_007300.4:c.122del
  • NM_007304.2:c.122delA
  • NP_001394510.1:p.His41Profs
  • NP_001394511.1:p.His41Profs
  • NP_001394512.1:p.His41Profs
  • NP_001394514.1:p.His41Profs
  • NP_001394516.1:p.His41Profs
  • NP_001394519.1:p.His41Profs
  • NP_001394520.1:p.His41Profs
  • NP_001394522.1:p.His41Profs
  • NP_001394523.1:p.His41Profs
  • NP_001394525.1:p.His41Profs
  • NP_001394526.1:p.His41Profs
  • NP_001394527.1:p.His41Profs
  • NP_001394531.1:p.His41Profs
  • NP_001394532.1:p.His41Profs
  • NP_001394534.1:p.His41Profs
  • NP_001394539.1:p.His41Profs
  • NP_001394540.1:p.His41Profs
  • NP_001394541.1:p.His41Profs
  • NP_001394542.1:p.His41Profs
  • NP_001394543.1:p.His41Profs
  • NP_001394544.1:p.His41Profs
  • NP_001394545.1:p.His41Profs
  • NP_001394546.1:p.His41Profs
  • NP_001394547.1:p.His41Profs
  • NP_001394548.1:p.His41Profs
  • NP_001394549.1:p.His41Profs
  • NP_001394550.1:p.His41Profs
  • NP_001394551.1:p.His41Profs
  • NP_001394552.1:p.His41Profs
  • NP_001394553.1:p.His41Profs
  • NP_001394554.1:p.His41Profs
  • NP_001394555.1:p.His41Profs
  • NP_001394556.1:p.His41Profs
  • NP_001394557.1:p.His41Profs
  • NP_001394558.1:p.His41Profs
  • NP_001394559.1:p.His41Profs
  • NP_001394560.1:p.His41Profs
  • NP_001394561.1:p.His41Profs
  • NP_001394562.1:p.His41Profs
  • NP_001394563.1:p.His41Profs
  • NP_001394564.1:p.His41Profs
  • NP_001394565.1:p.His41Profs
  • NP_001394566.1:p.His41Profs
  • NP_001394567.1:p.His41Profs
  • NP_001394568.1:p.His41Profs
  • NP_001394569.1:p.His41Profs
  • NP_001394570.1:p.His41Profs
  • NP_001394571.1:p.His41Profs
  • NP_001394573.1:p.His41Profs
  • NP_001394574.1:p.His41Profs
  • NP_001394575.1:p.His41Profs
  • NP_001394576.1:p.His41Profs
  • NP_001394577.1:p.His41Profs
  • NP_001394578.1:p.His41Profs
  • NP_001394581.1:p.His41Profs
  • NP_001394582.1:p.His41Profs
  • NP_001394583.1:p.His41Profs
  • NP_001394584.1:p.His41Profs
  • NP_001394585.1:p.His41Profs
  • NP_001394586.1:p.His41Profs
  • NP_001394587.1:p.His41Profs
  • NP_001394588.1:p.His41Profs
  • NP_001394589.1:p.His41Profs
  • NP_001394590.1:p.His41Profs
  • NP_001394591.1:p.His41Profs
  • NP_001394592.1:p.His41Profs
  • NP_001394593.1:p.His41Profs
  • NP_001394594.1:p.His41Profs
  • NP_001394595.1:p.His41Profs
  • NP_001394596.1:p.His41Profs
  • NP_001394597.1:p.His41Profs
  • NP_001394598.1:p.His41Profs
  • NP_001394599.1:p.His41Profs
  • NP_001394600.1:p.His41Profs
  • NP_001394601.1:p.His41Profs
  • NP_001394602.1:p.His41Profs
  • NP_001394603.1:p.His41Profs
  • NP_001394604.1:p.His41Profs
  • NP_001394605.1:p.His41Profs
  • NP_001394606.1:p.His41Profs
  • NP_001394607.1:p.His41Profs
  • NP_001394608.1:p.His41Profs
  • NP_001394609.1:p.His41Profs
  • NP_001394610.1:p.His41Profs
  • NP_001394611.1:p.His41Profs
  • NP_001394612.1:p.His41Profs
  • NP_001394613.1:p.His41Profs
  • NP_001394614.1:p.His41Profs
  • NP_001394615.1:p.His41Profs
  • NP_001394616.1:p.His41Profs
  • NP_001394617.1:p.His41Profs
  • NP_001394618.1:p.His41Profs
  • NP_001394619.1:p.His41Profs
  • NP_001394620.1:p.His41Profs
  • NP_001394783.1:p.His41Profs
  • NP_001394787.1:p.His41Profs
  • NP_001394788.1:p.His41Profs
  • NP_001394789.1:p.His41Profs
  • NP_001394790.1:p.His41Profs
  • NP_001394791.1:p.His41Profs
  • NP_001394792.1:p.His41Profs
  • NP_001394803.1:p.His41Profs
  • NP_001394804.1:p.His41Profs
  • NP_001394848.1:p.His41Profs
  • NP_001394866.1:p.His41Profs
  • NP_001394867.1:p.His41Profs
  • NP_001394868.1:p.His41Profs
  • NP_001394869.1:p.His41Profs
  • NP_001394870.1:p.His41Profs
  • NP_001394897.1:p.His41Profs
  • NP_001394898.1:p.His41Profs
  • NP_001394899.1:p.His41Profs
  • NP_001394900.1:p.His41Profs
  • NP_001394901.1:p.His41Profs
  • NP_001394902.1:p.His41Profs
  • NP_001394903.1:p.His41Profs
  • NP_001394904.1:p.His41Profs
  • NP_001394905.1:p.His41Profs
  • NP_001394906.1:p.His41Profs
  • NP_001394907.1:p.His41Profs
  • NP_001394908.1:p.His41Profs
  • NP_001394909.1:p.His41Profs
  • NP_001394910.1:p.His41Profs
  • NP_001394911.1:p.His41Profs
  • NP_001394912.1:p.His41Profs
  • NP_001394913.1:p.His41Profs
  • NP_001394914.1:p.His41Profs
  • NP_001394915.1:p.His41Profs
  • NP_001394919.1:p.His41Profs
  • NP_001394920.1:p.His41Profs
  • NP_001394921.1:p.His41Profs
  • NP_001394922.1:p.His41Profs
  • NP_001395321.1:p.His41Profs
  • NP_001395325.1:p.His41Profs
  • NP_001395326.1:p.His41Profs
  • NP_001395327.1:p.His41Profs
  • NP_001395328.1:p.His41Profs
  • NP_001395329.1:p.His41Profs
  • NP_001395330.1:p.His41Profs
  • NP_001395331.1:p.His41Profs
  • NP_001395332.1:p.His41Profs
  • NP_001395333.1:p.His41Profs
  • NP_001395335.1:p.His41Profs
  • NP_001395336.1:p.His41Profs
  • NP_001395337.1:p.His41Profs
  • NP_001395338.1:p.His41Profs
  • NP_001395340.1:p.His41Profs
  • NP_001395341.1:p.His41Profs
  • NP_001395342.1:p.His41Profs
  • NP_001395343.1:p.His41Profs
  • NP_001395344.1:p.His41Profs
  • NP_001395345.1:p.His41Profs
  • NP_001395347.1:p.His41Profs
  • NP_001395348.1:p.His41Profs
  • NP_001395349.1:p.His41Profs
  • NP_001395350.1:p.His41Profs
  • NP_001395351.1:p.His41Profs
  • NP_001395352.1:p.His41Profs
  • NP_001395353.1:p.His41Profs
  • NP_001395354.1:p.His41Profs
  • NP_001395355.1:p.His41Profs
  • NP_001395356.1:p.His41Profs
  • NP_001395357.1:p.His41Profs
  • NP_001395358.1:p.His41Profs
  • NP_001395359.1:p.His41Profs
  • NP_001395360.1:p.His41Profs
  • NP_001395361.1:p.His41Profs
  • NP_001395362.1:p.His41Profs
  • NP_001395363.1:p.His41Profs
  • NP_001395364.1:p.His41Profs
  • NP_001395365.1:p.His41Profs
  • NP_001395366.1:p.His41Profs
  • NP_001395367.1:p.His41Profs
  • NP_001395368.1:p.His41Profs
  • NP_001395369.1:p.His41Profs
  • NP_001395370.1:p.His41Profs
  • NP_001395371.1:p.His41Profs
  • NP_001395372.1:p.His41Profs
  • NP_001395373.1:p.His41Profs
  • NP_001395374.1:p.His41Profs
  • NP_001395375.1:p.His41Profs
  • NP_001395376.1:p.His41Profs
  • NP_001395377.1:p.His41Profs
  • NP_001395379.1:p.His41Profs
  • NP_001395401.1:p.His41Profs
  • NP_001395402.1:p.His41Profs
  • NP_001395403.1:p.His41Profs
  • NP_001395404.1:p.His41Profs
  • NP_001395405.1:p.His41Profs
  • NP_001395423.1:p.His41Profs
  • NP_001395424.1:p.His41Profs
  • NP_009225.1:p.His41Profs
  • NP_009225.1:p.His41fs
  • NP_009229.2:p.His41Profs
  • NP_009229.2:p.His41fs
  • NP_009230.2:p.His41fs
  • NP_009231.2:p.His41fs
  • NP_009235.2:p.His41Profs
  • LRG_292t1:c.122del
  • LRG_292:g.102246del
  • LRG_292p1:p.His41Profs
  • NC_000017.10:g.41267755del
  • NM_007294.3:c.122delA
  • NM_007294.3:c.122delA
  • NM_007298.3:c.122del
  • NR_027676.2:n.324del
  • p.(His41ProfsTer9)
Protein change:
H41fs
Links:
dbSNP: rs397508847
NCBI 1000 Genomes Browser:
rs397508847
Molecular consequence:
  • NM_001407581.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.122delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.-8+8279del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.324del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000679194ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population.

Sekine M, Nagata H, Tsuji S, Hirai Y, Fujimoto S, Hatae M, Kobayashi I, Fujii T, Nagata I, Ushijima K, Obata K, Suzuki M, Yoshinaga M, Umesaki N, Satoh S, Enomoto T, Motoyama S, Tanaka K; Japanese Familial Ovarian Cancer Study Group..

Clin Cancer Res. 2001 Oct;7(10):3144-50.

PubMed [citation]
PMID:
11595708

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679194.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024