NM_007294.4(BRCA1):c.124del (p.Ile42fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000111825.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.124del (p.Ile42fs)]

NM_007294.4(BRCA1):c.124del (p.Ile42fs)

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.124del (p.Ile42fs)

Other names:

243delA

HGVS:

NC_000017.11:g.43115736del
NG_005905.2:g.102248del
NM_001407571.1:c.-65delA
NM_001407581.1:c.124delA
NM_001407582.1:c.124delA
NM_001407583.1:c.124delA
NM_001407585.1:c.124delA
NM_001407587.1:c.124delA
NM_001407590.1:c.124delA
NM_001407591.1:c.124delA
NM_001407593.1:c.124delA
NM_001407594.1:c.124delA
NM_001407596.1:c.124delA
NM_001407597.1:c.124delA
NM_001407598.1:c.124delA
NM_001407602.1:c.124delA
NM_001407603.1:c.124delA
NM_001407605.1:c.124delA
NM_001407610.1:c.124delA
NM_001407611.1:c.124delA
NM_001407612.1:c.124delA
NM_001407613.1:c.124delA
NM_001407614.1:c.124delA
NM_001407615.1:c.124delA
NM_001407616.1:c.124delA
NM_001407617.1:c.124delA
NM_001407618.1:c.124delA
NM_001407619.1:c.124delA
NM_001407620.1:c.124delA
NM_001407621.1:c.124delA
NM_001407622.1:c.124delA
NM_001407623.1:c.124delA
NM_001407624.1:c.124delA
NM_001407625.1:c.124delA
NM_001407626.1:c.124delA
NM_001407627.1:c.124delA
NM_001407628.1:c.124delA
NM_001407629.1:c.124delA
NM_001407630.1:c.124delA
NM_001407631.1:c.124delA
NM_001407632.1:c.124delA
NM_001407633.1:c.124delA
NM_001407634.1:c.124delA
NM_001407635.1:c.124delA
NM_001407636.1:c.124delA
NM_001407637.1:c.124delA
NM_001407638.1:c.124delA
NM_001407639.1:c.124delA
NM_001407640.1:c.124delA
NM_001407641.1:c.124delA
NM_001407642.1:c.124delA
NM_001407644.1:c.124delA
NM_001407645.1:c.124delA
NM_001407646.1:c.124delA
NM_001407647.1:c.124delA
NM_001407648.1:c.124delA
NM_001407649.1:c.124delA
NM_001407652.1:c.124delA
NM_001407653.1:c.124delA
NM_001407654.1:c.124delA
NM_001407655.1:c.124delA
NM_001407656.1:c.124delA
NM_001407657.1:c.124delA
NM_001407658.1:c.124delA
NM_001407659.1:c.124delA
NM_001407660.1:c.124delA
NM_001407661.1:c.124delA
NM_001407662.1:c.124delA
NM_001407663.1:c.124delA
NM_001407664.1:c.124delA
NM_001407665.1:c.124delA
NM_001407666.1:c.124delA
NM_001407667.1:c.124delA
NM_001407668.1:c.124delA
NM_001407669.1:c.124delA
NM_001407670.1:c.124delA
NM_001407671.1:c.124delA
NM_001407672.1:c.124delA
NM_001407673.1:c.124delA
NM_001407674.1:c.124delA
NM_001407675.1:c.124delA
NM_001407676.1:c.124delA
NM_001407677.1:c.124delA
NM_001407678.1:c.124delA
NM_001407679.1:c.124delA
NM_001407680.1:c.124delA
NM_001407681.1:c.124delA
NM_001407682.1:c.124delA
NM_001407683.1:c.124delA
NM_001407684.1:c.124delA
NM_001407685.1:c.124delA
NM_001407686.1:c.124delA
NM_001407687.1:c.124delA
NM_001407688.1:c.124delA
NM_001407689.1:c.124delA
NM_001407690.1:c.124delA
NM_001407691.1:c.124delA
NM_001407694.1:c.-134delA
NM_001407695.1:c.-138delA
NM_001407696.1:c.-134delA
NM_001407697.1:c.-18delA
NM_001407724.1:c.-134delA
NM_001407725.1:c.-18delA
NM_001407727.1:c.-134delA
NM_001407728.1:c.-18delA
NM_001407729.1:c.-18delA
NM_001407730.1:c.-18delA
NM_001407731.1:c.-134delA
NM_001407733.1:c.-134delA
NM_001407734.1:c.-18delA
NM_001407735.1:c.-18delA
NM_001407737.1:c.-18delA
NM_001407739.1:c.-18delA
NM_001407740.1:c.-18delA
NM_001407741.1:c.-18delA
NM_001407743.1:c.-18delA
NM_001407745.1:c.-18delA
NM_001407746.1:c.-134delA
NM_001407748.1:c.-18delA
NM_001407749.1:c.-134delA
NM_001407752.1:c.-18delA
NM_001407838.1:c.-18delA
NM_001407839.1:c.-18delA
NM_001407841.1:c.-14delA
NM_001407842.1:c.-134delA
NM_001407843.1:c.-134delA
NM_001407844.1:c.-18delA
NM_001407846.1:c.-18delA
NM_001407847.1:c.-18delA
NM_001407848.1:c.-18delA
NM_001407850.1:c.-18delA
NM_001407851.1:c.-18delA
NM_001407853.1:c.-65delA
NM_001407854.1:c.124delA
NM_001407858.1:c.124delA
NM_001407859.1:c.124delA
NM_001407860.1:c.124delA
NM_001407861.1:c.124delA
NM_001407862.1:c.124delA
NM_001407863.1:c.124delA
NM_001407874.1:c.124delA
NM_001407875.1:c.124delA
NM_001407879.1:c.-65delA
NM_001407882.1:c.-65delA
NM_001407884.1:c.-65delA
NM_001407885.1:c.-65delA
NM_001407886.1:c.-65delA
NM_001407887.1:c.-65delA
NM_001407889.1:c.-181delA
NM_001407894.1:c.-65delA
NM_001407895.1:c.-65delA
NM_001407896.1:c.-65delA
NM_001407897.1:c.-65delA
NM_001407899.1:c.-65delA
NM_001407900.1:c.-181delA
NM_001407904.1:c.-65delA
NM_001407906.1:c.-65delA
NM_001407907.1:c.-65delA
NM_001407908.1:c.-65delA
NM_001407909.1:c.-65delA
NM_001407910.1:c.-65delA
NM_001407915.1:c.-65delA
NM_001407916.1:c.-65delA
NM_001407917.1:c.-65delA
NM_001407918.1:c.-65delA
NM_001407919.1:c.124delA
NM_001407920.1:c.-18delA
NM_001407921.1:c.-18delA
NM_001407922.1:c.-18delA
NM_001407923.1:c.-18delA
NM_001407926.1:c.-18delA
NM_001407927.1:c.-18delA
NM_001407930.1:c.-134delA
NM_001407933.1:c.-18delA
NM_001407934.1:c.-18delA
NM_001407935.1:c.-18delA
NM_001407937.1:c.124delA
NM_001407938.1:c.124delA
NM_001407939.1:c.124delA
NM_001407940.1:c.124delA
NM_001407941.1:c.124delA
NM_001407942.1:c.-134delA
NM_001407943.1:c.-18delA
NM_001407944.1:c.-18delA
NM_001407946.1:c.-65delA
NM_001407947.1:c.-65delA
NM_001407948.1:c.-65delA
NM_001407949.1:c.-65delA
NM_001407950.1:c.-65delA
NM_001407951.1:c.-65delA
NM_001407952.1:c.-65delA
NM_001407953.1:c.-65delA
NM_001407954.1:c.-65delA
NM_001407955.1:c.-65delA
NM_001407956.1:c.-65delA
NM_001407957.1:c.-65delA
NM_001407958.1:c.-65delA
NM_001407960.1:c.-180delA
NM_001407962.1:c.-180delA
NM_001407964.1:c.-18delA
NM_001407965.1:c.-296delA
NM_001407968.1:c.124delA
NM_001407969.1:c.124delA
NM_001407970.1:c.124delA
NM_001407971.1:c.124delA
NM_001407972.1:c.124delA
NM_001407973.1:c.124delA
NM_001407974.1:c.124delA
NM_001407975.1:c.124delA
NM_001407976.1:c.124delA
NM_001407977.1:c.124delA
NM_001407978.1:c.124delA
NM_001407979.1:c.124delA
NM_001407980.1:c.124delA
NM_001407981.1:c.124delA
NM_001407982.1:c.124delA
NM_001407983.1:c.124delA
NM_001407984.1:c.124delA
NM_001407985.1:c.124delA
NM_001407986.1:c.124delA
NM_001407990.1:c.124delA
NM_001407991.1:c.124delA
NM_001407992.1:c.124delA
NM_001407993.1:c.124delA
NM_001408392.1:c.124delA
NM_001408396.1:c.124delA
NM_001408397.1:c.124delA
NM_001408398.1:c.124delA
NM_001408399.1:c.124delA
NM_001408400.1:c.124delA
NM_001408401.1:c.124delA
NM_001408402.1:c.124delA
NM_001408403.1:c.124delA
NM_001408404.1:c.124delA
NM_001408406.1:c.124delA
NM_001408407.1:c.124delA
NM_001408408.1:c.124delA
NM_001408409.1:c.124delA
NM_001408410.1:c.-18delA
NM_001408411.1:c.124delA
NM_001408412.1:c.124delA
NM_001408413.1:c.124delA
NM_001408414.1:c.124delA
NM_001408415.1:c.124delA
NM_001408416.1:c.124delA
NM_001408418.1:c.124delA
NM_001408419.1:c.124delA
NM_001408420.1:c.124delA
NM_001408421.1:c.124delA
NM_001408422.1:c.124delA
NM_001408423.1:c.124delA
NM_001408424.1:c.124delA
NM_001408425.1:c.124delA
NM_001408426.1:c.124delA
NM_001408427.1:c.124delA
NM_001408428.1:c.124delA
NM_001408429.1:c.124delA
NM_001408430.1:c.124delA
NM_001408431.1:c.124delA
NM_001408432.1:c.124delA
NM_001408433.1:c.124delA
NM_001408434.1:c.124delA
NM_001408435.1:c.124delA
NM_001408436.1:c.124delA
NM_001408437.1:c.124delA
NM_001408438.1:c.124delA
NM_001408439.1:c.124delA
NM_001408440.1:c.124delA
NM_001408441.1:c.124delA
NM_001408442.1:c.124delA
NM_001408443.1:c.124delA
NM_001408444.1:c.124delA
NM_001408445.1:c.124delA
NM_001408446.1:c.124delA
NM_001408447.1:c.124delA
NM_001408448.1:c.124delA
NM_001408450.1:c.124delA
NM_001408452.1:c.-18delA
NM_001408453.1:c.-18delA
NM_001408455.1:c.-134delA
NM_001408456.1:c.-134delA
NM_001408458.1:c.-18delA
NM_001408462.1:c.-18delA
NM_001408463.1:c.-18delA
NM_001408465.1:c.-138delA
NM_001408466.1:c.-18delA
NM_001408468.1:c.-134delA
NM_001408469.1:c.-18delA
NM_001408470.1:c.-18delA
NM_001408472.1:c.124delA
NM_001408473.1:c.124delA
NM_001408474.1:c.124delA
NM_001408475.1:c.124delA
NM_001408476.1:c.124delA
NM_001408478.1:c.-65delA
NM_001408479.1:c.-65delA
NM_001408480.1:c.-65delA
NM_001408481.1:c.-65delA
NM_001408482.1:c.-65delA
NM_001408483.1:c.-65delA
NM_001408484.1:c.-65delA
NM_001408485.1:c.-65delA
NM_001408489.1:c.-65delA
NM_001408490.1:c.-65delA
NM_001408491.1:c.-65delA
NM_001408492.1:c.-181delA
NM_001408493.1:c.-65delA
NM_001408494.1:c.124delA
NM_001408495.1:c.124delA
NM_001408497.1:c.-18delA
NM_001408499.1:c.-18delA
NM_001408500.1:c.-18delA
NM_001408501.1:c.-134delA
NM_001408502.1:c.-65delA
NM_001408503.1:c.-18delA
NM_001408504.1:c.-18delA
NM_001408505.1:c.-18delA
NM_001408506.1:c.-65delA
NM_001408507.1:c.-65delA
NM_001408508.1:c.-65delA
NM_001408509.1:c.-65delA
NM_001408510.1:c.-180delA
NM_001408512.1:c.-180delA
NM_001408513.1:c.-65delA
NM_001408514.1:c.-65delA
NM_007294.4:c.124delMANE SELECT
NM_007297.4:c.-8+8281del
NM_007298.4:c.124delA
NM_007299.4:c.124del
NM_007300.4:c.124del
NM_007304.2:c.124delA
NP_001394510.1:p.Ile42Tyrfs
NP_001394511.1:p.Ile42Tyrfs
NP_001394512.1:p.Ile42Tyrfs
NP_001394514.1:p.Ile42Tyrfs
NP_001394516.1:p.Ile42Tyrfs
NP_001394519.1:p.Ile42Tyrfs
NP_001394520.1:p.Ile42Tyrfs
NP_001394522.1:p.Ile42Tyrfs
NP_001394523.1:p.Ile42Tyrfs
NP_001394525.1:p.Ile42Tyrfs
NP_001394526.1:p.Ile42Tyrfs
NP_001394527.1:p.Ile42Tyrfs
NP_001394531.1:p.Ile42Tyrfs
NP_001394532.1:p.Ile42Tyrfs
NP_001394534.1:p.Ile42Tyrfs
NP_001394539.1:p.Ile42Tyrfs
NP_001394540.1:p.Ile42Tyrfs
NP_001394541.1:p.Ile42Tyrfs
NP_001394542.1:p.Ile42Tyrfs
NP_001394543.1:p.Ile42Tyrfs
NP_001394544.1:p.Ile42Tyrfs
NP_001394545.1:p.Ile42Tyrfs
NP_001394546.1:p.Ile42Tyrfs
NP_001394547.1:p.Ile42Tyrfs
NP_001394548.1:p.Ile42Tyrfs
NP_001394549.1:p.Ile42Tyrfs
NP_001394550.1:p.Ile42Tyrfs
NP_001394551.1:p.Ile42Tyrfs
NP_001394552.1:p.Ile42Tyrfs
NP_001394553.1:p.Ile42Tyrfs
NP_001394554.1:p.Ile42Tyrfs
NP_001394555.1:p.Ile42Tyrfs
NP_001394556.1:p.Ile42Tyrfs
NP_001394557.1:p.Ile42Tyrfs
NP_001394558.1:p.Ile42Tyrfs
NP_001394559.1:p.Ile42Tyrfs
NP_001394560.1:p.Ile42Tyrfs
NP_001394561.1:p.Ile42Tyrfs
NP_001394562.1:p.Ile42Tyrfs
NP_001394563.1:p.Ile42Tyrfs
NP_001394564.1:p.Ile42Tyrfs
NP_001394565.1:p.Ile42Tyrfs
NP_001394566.1:p.Ile42Tyrfs
NP_001394567.1:p.Ile42Tyrfs
NP_001394568.1:p.Ile42Tyrfs
NP_001394569.1:p.Ile42Tyrfs
NP_001394570.1:p.Ile42Tyrfs
NP_001394571.1:p.Ile42Tyrfs
NP_001394573.1:p.Ile42Tyrfs
NP_001394574.1:p.Ile42Tyrfs
NP_001394575.1:p.Ile42Tyrfs
NP_001394576.1:p.Ile42Tyrfs
NP_001394577.1:p.Ile42Tyrfs
NP_001394578.1:p.Ile42Tyrfs
NP_001394581.1:p.Ile42Tyrfs
NP_001394582.1:p.Ile42Tyrfs
NP_001394583.1:p.Ile42Tyrfs
NP_001394584.1:p.Ile42Tyrfs
NP_001394585.1:p.Ile42Tyrfs
NP_001394586.1:p.Ile42Tyrfs
NP_001394587.1:p.Ile42Tyrfs
NP_001394588.1:p.Ile42Tyrfs
NP_001394589.1:p.Ile42Tyrfs
NP_001394590.1:p.Ile42Tyrfs
NP_001394591.1:p.Ile42Tyrfs
NP_001394592.1:p.Ile42Tyrfs
NP_001394593.1:p.Ile42Tyrfs
NP_001394594.1:p.Ile42Tyrfs
NP_001394595.1:p.Ile42Tyrfs
NP_001394596.1:p.Ile42Tyrfs
NP_001394597.1:p.Ile42Tyrfs
NP_001394598.1:p.Ile42Tyrfs
NP_001394599.1:p.Ile42Tyrfs
NP_001394600.1:p.Ile42Tyrfs
NP_001394601.1:p.Ile42Tyrfs
NP_001394602.1:p.Ile42Tyrfs
NP_001394603.1:p.Ile42Tyrfs
NP_001394604.1:p.Ile42Tyrfs
NP_001394605.1:p.Ile42Tyrfs
NP_001394606.1:p.Ile42Tyrfs
NP_001394607.1:p.Ile42Tyrfs
NP_001394608.1:p.Ile42Tyrfs
NP_001394609.1:p.Ile42Tyrfs
NP_001394610.1:p.Ile42Tyrfs
NP_001394611.1:p.Ile42Tyrfs
NP_001394612.1:p.Ile42Tyrfs
NP_001394613.1:p.Ile42Tyrfs
NP_001394614.1:p.Ile42Tyrfs
NP_001394615.1:p.Ile42Tyrfs
NP_001394616.1:p.Ile42Tyrfs
NP_001394617.1:p.Ile42Tyrfs
NP_001394618.1:p.Ile42Tyrfs
NP_001394619.1:p.Ile42Tyrfs
NP_001394620.1:p.Ile42Tyrfs
NP_001394783.1:p.Ile42Tyrfs
NP_001394787.1:p.Ile42Tyrfs
NP_001394788.1:p.Ile42Tyrfs
NP_001394789.1:p.Ile42Tyrfs
NP_001394790.1:p.Ile42Tyrfs
NP_001394791.1:p.Ile42Tyrfs
NP_001394792.1:p.Ile42Tyrfs
NP_001394803.1:p.Ile42Tyrfs
NP_001394804.1:p.Ile42Tyrfs
NP_001394848.1:p.Ile42Tyrfs
NP_001394866.1:p.Ile42Tyrfs
NP_001394867.1:p.Ile42Tyrfs
NP_001394868.1:p.Ile42Tyrfs
NP_001394869.1:p.Ile42Tyrfs
NP_001394870.1:p.Ile42Tyrfs
NP_001394897.1:p.Ile42Tyrfs
NP_001394898.1:p.Ile42Tyrfs
NP_001394899.1:p.Ile42Tyrfs
NP_001394900.1:p.Ile42Tyrfs
NP_001394901.1:p.Ile42Tyrfs
NP_001394902.1:p.Ile42Tyrfs
NP_001394903.1:p.Ile42Tyrfs
NP_001394904.1:p.Ile42Tyrfs
NP_001394905.1:p.Ile42Tyrfs
NP_001394906.1:p.Ile42Tyrfs
NP_001394907.1:p.Ile42Tyrfs
NP_001394908.1:p.Ile42Tyrfs
NP_001394909.1:p.Ile42Tyrfs
NP_001394910.1:p.Ile42Tyrfs
NP_001394911.1:p.Ile42Tyrfs
NP_001394912.1:p.Ile42Tyrfs
NP_001394913.1:p.Ile42Tyrfs
NP_001394914.1:p.Ile42Tyrfs
NP_001394915.1:p.Ile42Tyrfs
NP_001394919.1:p.Ile42Tyrfs
NP_001394920.1:p.Ile42Tyrfs
NP_001394921.1:p.Ile42Tyrfs
NP_001394922.1:p.Ile42Tyrfs
NP_001395321.1:p.Ile42Tyrfs
NP_001395325.1:p.Ile42Tyrfs
NP_001395326.1:p.Ile42Tyrfs
NP_001395327.1:p.Ile42Tyrfs
NP_001395328.1:p.Ile42Tyrfs
NP_001395329.1:p.Ile42Tyrfs
NP_001395330.1:p.Ile42Tyrfs
NP_001395331.1:p.Ile42Tyrfs
NP_001395332.1:p.Ile42Tyrfs
NP_001395333.1:p.Ile42Tyrfs
NP_001395335.1:p.Ile42Tyrfs
NP_001395336.1:p.Ile42Tyrfs
NP_001395337.1:p.Ile42Tyrfs
NP_001395338.1:p.Ile42Tyrfs
NP_001395340.1:p.Ile42Tyrfs
NP_001395341.1:p.Ile42Tyrfs
NP_001395342.1:p.Ile42Tyrfs
NP_001395343.1:p.Ile42Tyrfs
NP_001395344.1:p.Ile42Tyrfs
NP_001395345.1:p.Ile42Tyrfs
NP_001395347.1:p.Ile42Tyrfs
NP_001395348.1:p.Ile42Tyrfs
NP_001395349.1:p.Ile42Tyrfs
NP_001395350.1:p.Ile42Tyrfs
NP_001395351.1:p.Ile42Tyrfs
NP_001395352.1:p.Ile42Tyrfs
NP_001395353.1:p.Ile42Tyrfs
NP_001395354.1:p.Ile42Tyrfs
NP_001395355.1:p.Ile42Tyrfs
NP_001395356.1:p.Ile42Tyrfs
NP_001395357.1:p.Ile42Tyrfs
NP_001395358.1:p.Ile42Tyrfs
NP_001395359.1:p.Ile42Tyrfs
NP_001395360.1:p.Ile42Tyrfs
NP_001395361.1:p.Ile42Tyrfs
NP_001395362.1:p.Ile42Tyrfs
NP_001395363.1:p.Ile42Tyrfs
NP_001395364.1:p.Ile42Tyrfs
NP_001395365.1:p.Ile42Tyrfs
NP_001395366.1:p.Ile42Tyrfs
NP_001395367.1:p.Ile42Tyrfs
NP_001395368.1:p.Ile42Tyrfs
NP_001395369.1:p.Ile42Tyrfs
NP_001395370.1:p.Ile42Tyrfs
NP_001395371.1:p.Ile42Tyrfs
NP_001395372.1:p.Ile42Tyrfs
NP_001395373.1:p.Ile42Tyrfs
NP_001395374.1:p.Ile42Tyrfs
NP_001395375.1:p.Ile42Tyrfs
NP_001395376.1:p.Ile42Tyrfs
NP_001395377.1:p.Ile42Tyrfs
NP_001395379.1:p.Ile42Tyrfs
NP_001395401.1:p.Ile42Tyrfs
NP_001395402.1:p.Ile42Tyrfs
NP_001395403.1:p.Ile42Tyrfs
NP_001395404.1:p.Ile42Tyrfs
NP_001395405.1:p.Ile42Tyrfs
NP_001395423.1:p.Ile42Tyrfs
NP_001395424.1:p.Ile42Tyrfs
NP_009225.1:p.Ile42Tyrfs
NP_009225.1:p.Ile42fs
NP_009229.2:p.Ile42Tyrfs
NP_009229.2:p.Ile42fs
NP_009230.2:p.Ile42fs
NP_009231.2:p.Ile42fs
NP_009235.2:p.Ile42Tyrfs
LRG_292t1:c.124del
LRG_292:g.102248del
LRG_292p1:p.Ile42Tyrfs
NC_000017.10:g.41267753del
NC_000017.10:g.41267753delT
NM_007294.3:c.124delA
NM_007294.3:c.124delA
NM_007298.3:c.124del
NR_027676.2:n.326del
U14680.1:n.243delA

Protein change:

I42fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 243&base_change=del A; dbSNP: rs80357943

NCBI 1000 Genomes Browser:

rs80357943

Molecular consequence:

NM_001407581.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.-8+8281del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.326del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144380	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Jun 12, 2000)	germline	clinical testing
SCV000299407	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000324993	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000488642	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (May 24, 2016)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9150149, 21735045, 12845657 Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	16	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G.

Am J Hum Genet. 1997 May;60(5):1021-30.

PubMed [citation]

PMID:: 9150149
PMCID:: PMC1712430

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, Calaf M, Tornero E, del Valle J, Fernández-Rodríguez J, Quiles F, Salinas M, Velasco A, Teulé A, Brunet J, Blanco I, Capellá G, Lázaro C.

Breast Cancer Res Treat. 2012 Apr;132(3):979-92. doi: 10.1007/s10549-011-1661-5. Epub 2011 Jul 7.

PubMed [citation]

PMID:: 21735045

See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144380.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	Caucasian	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299407.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000324993.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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	16	not provided

From Counsyl, SCV000488642.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine