NM_007294.4(BRCA1):c.406del (p.Arg136fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Oct 18, 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:: RCV000256558.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.406del (p.Arg136fs)]

NM_007294.4(BRCA1):c.406del (p.Arg136fs)

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.406del (p.Arg136fs)

Other names:

525delA

HGVS:

NC_000017.11:g.43104160del
NG_005905.2:g.113827del
NM_001407571.1:c.193delA
NM_001407581.1:c.403delA
NM_001407582.1:c.403delA
NM_001407583.1:c.403delA
NM_001407585.1:c.403delA
NM_001407587.1:c.403delA
NM_001407590.1:c.403delA
NM_001407591.1:c.403delA
NM_001407593.1:c.403delA
NM_001407594.1:c.403delA
NM_001407596.1:c.403delA
NM_001407597.1:c.403delA
NM_001407598.1:c.403delA
NM_001407602.1:c.403delA
NM_001407603.1:c.403delA
NM_001407605.1:c.403delA
NM_001407610.1:c.403delA
NM_001407611.1:c.403delA
NM_001407612.1:c.403delA
NM_001407613.1:c.403delA
NM_001407614.1:c.403delA
NM_001407615.1:c.403delA
NM_001407616.1:c.403delA
NM_001407617.1:c.403delA
NM_001407618.1:c.403delA
NM_001407619.1:c.403delA
NM_001407620.1:c.403delA
NM_001407621.1:c.403delA
NM_001407622.1:c.403delA
NM_001407623.1:c.403delA
NM_001407624.1:c.403delA
NM_001407625.1:c.403delA
NM_001407626.1:c.403delA
NM_001407627.1:c.403delA
NM_001407628.1:c.403delA
NM_001407629.1:c.403delA
NM_001407630.1:c.403delA
NM_001407631.1:c.403delA
NM_001407632.1:c.403delA
NM_001407633.1:c.403delA
NM_001407634.1:c.403delA
NM_001407635.1:c.403delA
NM_001407636.1:c.403delA
NM_001407637.1:c.403delA
NM_001407638.1:c.403delA
NM_001407639.1:c.403delA
NM_001407640.1:c.403delA
NM_001407641.1:c.403delA
NM_001407642.1:c.403delA
NM_001407644.1:c.403delA
NM_001407645.1:c.403delA
NM_001407646.1:c.394delA
NM_001407647.1:c.394delA
NM_001407648.1:c.403delA
NM_001407649.1:c.403delA
NM_001407652.1:c.403delA
NM_001407653.1:c.325delA
NM_001407654.1:c.325delA
NM_001407655.1:c.325delA
NM_001407656.1:c.325delA
NM_001407657.1:c.325delA
NM_001407658.1:c.325delA
NM_001407659.1:c.325delA
NM_001407660.1:c.325delA
NM_001407661.1:c.325delA
NM_001407662.1:c.325delA
NM_001407663.1:c.325delA
NM_001407664.1:c.403delA
NM_001407665.1:c.403delA
NM_001407666.1:c.403delA
NM_001407667.1:c.403delA
NM_001407668.1:c.403delA
NM_001407669.1:c.403delA
NM_001407670.1:c.403delA
NM_001407671.1:c.403delA
NM_001407672.1:c.403delA
NM_001407673.1:c.403delA
NM_001407674.1:c.403delA
NM_001407675.1:c.403delA
NM_001407676.1:c.403delA
NM_001407677.1:c.403delA
NM_001407678.1:c.403delA
NM_001407679.1:c.403delA
NM_001407680.1:c.403delA
NM_001407681.1:c.403delA
NM_001407682.1:c.403delA
NM_001407683.1:c.403delA
NM_001407684.1:c.403delA
NM_001407685.1:c.403delA
NM_001407686.1:c.403delA
NM_001407687.1:c.403delA
NM_001407688.1:c.403delA
NM_001407689.1:c.403delA
NM_001407690.1:c.403delA
NM_001407691.1:c.403delA
NM_001407692.1:c.262delA
NM_001407694.1:c.262delA
NM_001407695.1:c.262delA
NM_001407696.1:c.262delA
NM_001407697.1:c.262delA
NM_001407698.1:c.262delA
NM_001407724.1:c.262delA
NM_001407725.1:c.262delA
NM_001407726.1:c.262delA
NM_001407727.1:c.262delA
NM_001407728.1:c.262delA
NM_001407729.1:c.262delA
NM_001407730.1:c.262delA
NM_001407731.1:c.262delA
NM_001407732.1:c.262delA
NM_001407733.1:c.262delA
NM_001407734.1:c.262delA
NM_001407735.1:c.262delA
NM_001407736.1:c.262delA
NM_001407737.1:c.262delA
NM_001407738.1:c.262delA
NM_001407739.1:c.262delA
NM_001407740.1:c.262delA
NM_001407741.1:c.262delA
NM_001407742.1:c.262delA
NM_001407743.1:c.262delA
NM_001407744.1:c.262delA
NM_001407745.1:c.262delA
NM_001407746.1:c.262delA
NM_001407747.1:c.262delA
NM_001407748.1:c.262delA
NM_001407749.1:c.262delA
NM_001407750.1:c.262delA
NM_001407751.1:c.262delA
NM_001407752.1:c.262delA
NM_001407838.1:c.262delA
NM_001407839.1:c.262delA
NM_001407841.1:c.262delA
NM_001407842.1:c.262delA
NM_001407843.1:c.262delA
NM_001407844.1:c.262delA
NM_001407845.1:c.262delA
NM_001407846.1:c.262delA
NM_001407847.1:c.262delA
NM_001407848.1:c.262delA
NM_001407849.1:c.262delA
NM_001407850.1:c.262delA
NM_001407851.1:c.262delA
NM_001407852.1:c.262delA
NM_001407853.1:c.193delA
NM_001407854.1:c.403delA
NM_001407858.1:c.403delA
NM_001407859.1:c.403delA
NM_001407860.1:c.403delA
NM_001407861.1:c.403delA
NM_001407862.1:c.325delA
NM_001407863.1:c.403delA
NM_001407874.1:c.325delA
NM_001407875.1:c.325delA
NM_001407879.1:c.193delA
NM_001407881.1:c.193delA
NM_001407882.1:c.193delA
NM_001407884.1:c.193delA
NM_001407885.1:c.193delA
NM_001407886.1:c.193delA
NM_001407887.1:c.193delA
NM_001407889.1:c.193delA
NM_001407894.1:c.193delA
NM_001407895.1:c.193delA
NM_001407896.1:c.193delA
NM_001407897.1:c.193delA
NM_001407898.1:c.193delA
NM_001407899.1:c.193delA
NM_001407900.1:c.193delA
NM_001407902.1:c.193delA
NM_001407904.1:c.193delA
NM_001407906.1:c.193delA
NM_001407907.1:c.193delA
NM_001407908.1:c.193delA
NM_001407909.1:c.193delA
NM_001407910.1:c.193delA
NM_001407915.1:c.193delA
NM_001407916.1:c.193delA
NM_001407917.1:c.193delA
NM_001407918.1:c.193delA
NM_001407919.1:c.403delA
NM_001407920.1:c.262delA
NM_001407921.1:c.262delA
NM_001407922.1:c.262delA
NM_001407923.1:c.262delA
NM_001407924.1:c.262delA
NM_001407925.1:c.262delA
NM_001407926.1:c.262delA
NM_001407927.1:c.262delA
NM_001407928.1:c.262delA
NM_001407929.1:c.262delA
NM_001407930.1:c.262delA
NM_001407931.1:c.262delA
NM_001407932.1:c.262delA
NM_001407933.1:c.262delA
NM_001407934.1:c.262delA
NM_001407935.1:c.262delA
NM_001407936.1:c.262delA
NM_001407937.1:c.403delA
NM_001407938.1:c.403delA
NM_001407939.1:c.403delA
NM_001407940.1:c.403delA
NM_001407941.1:c.403delA
NM_001407942.1:c.262delA
NM_001407943.1:c.262delA
NM_001407944.1:c.262delA
NM_001407945.1:c.262delA
NM_001407946.1:c.193delA
NM_001407947.1:c.193delA
NM_001407948.1:c.193delA
NM_001407949.1:c.193delA
NM_001407950.1:c.193delA
NM_001407951.1:c.193delA
NM_001407952.1:c.193delA
NM_001407953.1:c.193delA
NM_001407954.1:c.193delA
NM_001407955.1:c.193delA
NM_001407956.1:c.193delA
NM_001407957.1:c.193delA
NM_001407958.1:c.193delA
NM_001407959.1:c.22delA
NM_001407960.1:c.22delA
NM_001407962.1:c.22delA
NM_001407963.1:c.22delA
NM_001407964.1:c.262delA
NM_001407965.1:c.22delA
NM_001407968.1:c.403delA
NM_001407969.1:c.403delA
NM_001407970.1:c.403delA
NM_001407971.1:c.403delA
NM_001407972.1:c.403delA
NM_001407973.1:c.403delA
NM_001407974.1:c.403delA
NM_001407975.1:c.403delA
NM_001407976.1:c.403delA
NM_001407977.1:c.403delA
NM_001407978.1:c.403delA
NM_001407979.1:c.403delA
NM_001407980.1:c.403delA
NM_001407981.1:c.403delA
NM_001407982.1:c.403delA
NM_001407983.1:c.403delA
NM_001407984.1:c.403delA
NM_001407985.1:c.403delA
NM_001407986.1:c.403delA
NM_001407990.1:c.403delA
NM_001407991.1:c.403delA
NM_001407992.1:c.403delA
NM_001407993.1:c.403delA
NM_001408392.1:c.403delA
NM_001408396.1:c.403delA
NM_001408397.1:c.403delA
NM_001408398.1:c.403delA
NM_001408399.1:c.403delA
NM_001408400.1:c.403delA
NM_001408401.1:c.403delA
NM_001408402.1:c.403delA
NM_001408403.1:c.403delA
NM_001408404.1:c.403delA
NM_001408406.1:c.403delA
NM_001408407.1:c.403delA
NM_001408408.1:c.394delA
NM_001408409.1:c.325delA
NM_001408410.1:c.262delA
NM_001408411.1:c.325delA
NM_001408412.1:c.325delA
NM_001408413.1:c.325delA
NM_001408414.1:c.325delA
NM_001408415.1:c.325delA
NM_001408416.1:c.325delA
NM_001408418.1:c.403delA
NM_001408419.1:c.403delA
NM_001408420.1:c.403delA
NM_001408421.1:c.403delA
NM_001408422.1:c.403delA
NM_001408423.1:c.403delA
NM_001408424.1:c.403delA
NM_001408425.1:c.403delA
NM_001408426.1:c.403delA
NM_001408427.1:c.403delA
NM_001408428.1:c.403delA
NM_001408429.1:c.403delA
NM_001408430.1:c.403delA
NM_001408431.1:c.403delA
NM_001408432.1:c.403delA
NM_001408433.1:c.403delA
NM_001408434.1:c.403delA
NM_001408435.1:c.403delA
NM_001408436.1:c.403delA
NM_001408437.1:c.403delA
NM_001408438.1:c.403delA
NM_001408439.1:c.403delA
NM_001408440.1:c.403delA
NM_001408441.1:c.403delA
NM_001408442.1:c.403delA
NM_001408443.1:c.403delA
NM_001408444.1:c.403delA
NM_001408445.1:c.403delA
NM_001408446.1:c.403delA
NM_001408447.1:c.403delA
NM_001408448.1:c.403delA
NM_001408450.1:c.403delA
NM_001408451.1:c.271delA
NM_001408452.1:c.262delA
NM_001408453.1:c.262delA
NM_001408454.1:c.262delA
NM_001408455.1:c.262delA
NM_001408456.1:c.262delA
NM_001408457.1:c.262delA
NM_001408458.1:c.262delA
NM_001408459.1:c.262delA
NM_001408460.1:c.262delA
NM_001408461.1:c.262delA
NM_001408462.1:c.262delA
NM_001408463.1:c.262delA
NM_001408464.1:c.262delA
NM_001408465.1:c.262delA
NM_001408466.1:c.262delA
NM_001408467.1:c.262delA
NM_001408468.1:c.262delA
NM_001408469.1:c.262delA
NM_001408470.1:c.262delA
NM_001408472.1:c.403delA
NM_001408473.1:c.403delA
NM_001408474.1:c.325delA
NM_001408475.1:c.325delA
NM_001408476.1:c.325delA
NM_001408478.1:c.193delA
NM_001408479.1:c.193delA
NM_001408480.1:c.193delA
NM_001408481.1:c.193delA
NM_001408482.1:c.193delA
NM_001408483.1:c.193delA
NM_001408484.1:c.193delA
NM_001408485.1:c.193delA
NM_001408489.1:c.193delA
NM_001408490.1:c.193delA
NM_001408491.1:c.193delA
NM_001408492.1:c.193delA
NM_001408493.1:c.193delA
NM_001408494.1:c.403delA
NM_001408495.1:c.403delA
NM_001408496.1:c.262delA
NM_001408497.1:c.262delA
NM_001408498.1:c.262delA
NM_001408499.1:c.262delA
NM_001408500.1:c.262delA
NM_001408501.1:c.262delA
NM_001408502.1:c.193delA
NM_001408503.1:c.262delA
NM_001408504.1:c.262delA
NM_001408505.1:c.262delA
NM_001408506.1:c.193delA
NM_001408507.1:c.193delA
NM_001408508.1:c.193delA
NM_001408509.1:c.193delA
NM_001408510.1:c.22delA
NM_001408511.1:c.262delA
NM_001408512.1:c.22delA
NM_001408513.1:c.193delA
NM_001408514.1:c.193delA
NM_007294.4:c.406delMANE SELECT
NM_007297.4:c.265del
NM_007298.4:c.403delA
NM_007299.4:c.406del
NM_007300.4:c.406del
NM_007304.2:c.403delA
NP_001394500.1:p.Arg66Aspfs
NP_001394510.1:p.Arg136Aspfs
NP_001394511.1:p.Arg136Aspfs
NP_001394512.1:p.Arg136Aspfs
NP_001394514.1:p.Arg136Aspfs
NP_001394516.1:p.Arg136Aspfs
NP_001394519.1:p.Arg136Aspfs
NP_001394520.1:p.Arg136Aspfs
NP_001394522.1:p.Arg136Aspfs
NP_001394523.1:p.Arg136Aspfs
NP_001394525.1:p.Arg136Aspfs
NP_001394526.1:p.Arg136Aspfs
NP_001394527.1:p.Arg136Aspfs
NP_001394531.1:p.Arg136Aspfs
NP_001394532.1:p.Arg136Aspfs
NP_001394534.1:p.Arg136Aspfs
NP_001394539.1:p.Arg136Aspfs
NP_001394540.1:p.Arg136Aspfs
NP_001394541.1:p.Arg136Aspfs
NP_001394542.1:p.Arg136Aspfs
NP_001394543.1:p.Arg136Aspfs
NP_001394544.1:p.Arg136Aspfs
NP_001394545.1:p.Arg136Aspfs
NP_001394546.1:p.Arg136Aspfs
NP_001394547.1:p.Arg136Aspfs
NP_001394548.1:p.Arg136Aspfs
NP_001394549.1:p.Arg136Aspfs
NP_001394550.1:p.Arg136Aspfs
NP_001394551.1:p.Arg136Aspfs
NP_001394552.1:p.Arg136Aspfs
NP_001394553.1:p.Arg136Aspfs
NP_001394554.1:p.Arg136Aspfs
NP_001394555.1:p.Arg136Aspfs
NP_001394556.1:p.Arg136Aspfs
NP_001394557.1:p.Arg136Aspfs
NP_001394558.1:p.Arg136Aspfs
NP_001394559.1:p.Arg136Aspfs
NP_001394560.1:p.Arg136Aspfs
NP_001394561.1:p.Arg136Aspfs
NP_001394562.1:p.Arg136Aspfs
NP_001394563.1:p.Arg136Aspfs
NP_001394564.1:p.Arg136Aspfs
NP_001394565.1:p.Arg136Aspfs
NP_001394566.1:p.Arg136Aspfs
NP_001394567.1:p.Arg136Aspfs
NP_001394568.1:p.Arg136Aspfs
NP_001394569.1:p.Arg136Aspfs
NP_001394570.1:p.Arg136Aspfs
NP_001394571.1:p.Arg136Aspfs
NP_001394573.1:p.Arg136Aspfs
NP_001394574.1:p.Arg136Aspfs
NP_001394575.1:p.Arg133Aspfs
NP_001394576.1:p.Arg133Aspfs
NP_001394577.1:p.Arg136Aspfs
NP_001394578.1:p.Arg136Aspfs
NP_001394581.1:p.Arg136Aspfs
NP_001394582.1:p.Arg110Aspfs
NP_001394583.1:p.Arg110Aspfs
NP_001394584.1:p.Arg110Aspfs
NP_001394585.1:p.Arg110Aspfs
NP_001394586.1:p.Arg110Aspfs
NP_001394587.1:p.Arg110Aspfs
NP_001394588.1:p.Arg110Aspfs
NP_001394589.1:p.Arg110Aspfs
NP_001394590.1:p.Arg110Aspfs
NP_001394591.1:p.Arg110Aspfs
NP_001394592.1:p.Arg110Aspfs
NP_001394593.1:p.Arg136Aspfs
NP_001394594.1:p.Arg136Aspfs
NP_001394595.1:p.Arg136Aspfs
NP_001394596.1:p.Arg136Aspfs
NP_001394597.1:p.Arg136Aspfs
NP_001394598.1:p.Arg136Aspfs
NP_001394599.1:p.Arg136Aspfs
NP_001394600.1:p.Arg136Aspfs
NP_001394601.1:p.Arg136Aspfs
NP_001394602.1:p.Arg136Aspfs
NP_001394603.1:p.Arg136Aspfs
NP_001394604.1:p.Arg136Aspfs
NP_001394605.1:p.Arg136Aspfs
NP_001394606.1:p.Arg136Aspfs
NP_001394607.1:p.Arg136Aspfs
NP_001394608.1:p.Arg136Aspfs
NP_001394609.1:p.Arg136Aspfs
NP_001394610.1:p.Arg136Aspfs
NP_001394611.1:p.Arg136Aspfs
NP_001394612.1:p.Arg136Aspfs
NP_001394613.1:p.Arg136Aspfs
NP_001394614.1:p.Arg136Aspfs
NP_001394615.1:p.Arg136Aspfs
NP_001394616.1:p.Arg136Aspfs
NP_001394617.1:p.Arg136Aspfs
NP_001394618.1:p.Arg136Aspfs
NP_001394619.1:p.Arg136Aspfs
NP_001394620.1:p.Arg136Aspfs
NP_001394621.1:p.Arg89Aspfs
NP_001394623.1:p.Arg89Aspfs
NP_001394624.1:p.Arg89Aspfs
NP_001394625.1:p.Arg89Aspfs
NP_001394626.1:p.Arg89Aspfs
NP_001394627.1:p.Arg89Aspfs
NP_001394653.1:p.Arg89Aspfs
NP_001394654.1:p.Arg89Aspfs
NP_001394655.1:p.Arg89Aspfs
NP_001394656.1:p.Arg89Aspfs
NP_001394657.1:p.Arg89Aspfs
NP_001394658.1:p.Arg89Aspfs
NP_001394659.1:p.Arg89Aspfs
NP_001394660.1:p.Arg89Aspfs
NP_001394661.1:p.Arg89Aspfs
NP_001394662.1:p.Arg89Aspfs
NP_001394663.1:p.Arg89Aspfs
NP_001394664.1:p.Arg89Aspfs
NP_001394665.1:p.Arg89Aspfs
NP_001394666.1:p.Arg89Aspfs
NP_001394667.1:p.Arg89Aspfs
NP_001394668.1:p.Arg89Aspfs
NP_001394669.1:p.Arg89Aspfs
NP_001394670.1:p.Arg89Aspfs
NP_001394671.1:p.Arg89Aspfs
NP_001394672.1:p.Arg89Aspfs
NP_001394673.1:p.Arg89Aspfs
NP_001394674.1:p.Arg89Aspfs
NP_001394675.1:p.Arg89Aspfs
NP_001394676.1:p.Arg89Aspfs
NP_001394677.1:p.Arg89Aspfs
NP_001394678.1:p.Arg89Aspfs
NP_001394679.1:p.Arg89Aspfs
NP_001394680.1:p.Arg89Aspfs
NP_001394681.1:p.Arg89Aspfs
NP_001394767.1:p.Arg89Aspfs
NP_001394768.1:p.Arg89Aspfs
NP_001394770.1:p.Arg89Aspfs
NP_001394771.1:p.Arg89Aspfs
NP_001394772.1:p.Arg89Aspfs
NP_001394773.1:p.Arg89Aspfs
NP_001394774.1:p.Arg89Aspfs
NP_001394775.1:p.Arg89Aspfs
NP_001394776.1:p.Arg89Aspfs
NP_001394777.1:p.Arg89Aspfs
NP_001394778.1:p.Arg89Aspfs
NP_001394779.1:p.Arg89Aspfs
NP_001394780.1:p.Arg89Aspfs
NP_001394781.1:p.Arg89Aspfs
NP_001394782.1:p.Arg66Aspfs
NP_001394783.1:p.Arg136Aspfs
NP_001394787.1:p.Arg136Aspfs
NP_001394788.1:p.Arg136Aspfs
NP_001394789.1:p.Arg136Aspfs
NP_001394790.1:p.Arg136Aspfs
NP_001394791.1:p.Arg110Aspfs
NP_001394792.1:p.Arg136Aspfs
NP_001394803.1:p.Arg110Aspfs
NP_001394804.1:p.Arg110Aspfs
NP_001394808.1:p.Arg66Aspfs
NP_001394810.1:p.Arg66Aspfs
NP_001394811.1:p.Arg66Aspfs
NP_001394813.1:p.Arg66Aspfs
NP_001394814.1:p.Arg66Aspfs
NP_001394815.1:p.Arg66Aspfs
NP_001394816.1:p.Arg66Aspfs
NP_001394818.1:p.Arg66Aspfs
NP_001394823.1:p.Arg66Aspfs
NP_001394824.1:p.Arg66Aspfs
NP_001394825.1:p.Arg66Aspfs
NP_001394826.1:p.Arg66Aspfs
NP_001394827.1:p.Arg66Aspfs
NP_001394828.1:p.Arg66Aspfs
NP_001394829.1:p.Arg66Aspfs
NP_001394831.1:p.Arg66Aspfs
NP_001394833.1:p.Arg66Aspfs
NP_001394835.1:p.Arg66Aspfs
NP_001394836.1:p.Arg66Aspfs
NP_001394837.1:p.Arg66Aspfs
NP_001394838.1:p.Arg66Aspfs
NP_001394839.1:p.Arg66Aspfs
NP_001394844.1:p.Arg66Aspfs
NP_001394845.1:p.Arg66Aspfs
NP_001394846.1:p.Arg66Aspfs
NP_001394847.1:p.Arg66Aspfs
NP_001394848.1:p.Arg136Aspfs
NP_001394849.1:p.Arg89Aspfs
NP_001394850.1:p.Arg89Aspfs
NP_001394851.1:p.Arg89Aspfs
NP_001394852.1:p.Arg89Aspfs
NP_001394853.1:p.Arg89Aspfs
NP_001394854.1:p.Arg89Aspfs
NP_001394855.1:p.Arg89Aspfs
NP_001394856.1:p.Arg89Aspfs
NP_001394857.1:p.Arg89Aspfs
NP_001394858.1:p.Arg89Aspfs
NP_001394859.1:p.Arg89Aspfs
NP_001394860.1:p.Arg89Aspfs
NP_001394861.1:p.Arg89Aspfs
NP_001394862.1:p.Arg89Aspfs
NP_001394863.1:p.Arg89Aspfs
NP_001394864.1:p.Arg89Aspfs
NP_001394865.1:p.Arg89Aspfs
NP_001394866.1:p.Arg136Aspfs
NP_001394867.1:p.Arg136Aspfs
NP_001394868.1:p.Arg136Aspfs
NP_001394869.1:p.Arg136Aspfs
NP_001394870.1:p.Arg136Aspfs
NP_001394871.1:p.Arg89Aspfs
NP_001394872.1:p.Arg89Aspfs
NP_001394873.1:p.Arg89Aspfs
NP_001394874.1:p.Arg89Aspfs
NP_001394875.1:p.Arg66Aspfs
NP_001394876.1:p.Arg66Aspfs
NP_001394877.1:p.Arg66Aspfs
NP_001394878.1:p.Arg66Aspfs
NP_001394879.1:p.Arg66Aspfs
NP_001394880.1:p.Arg66Aspfs
NP_001394881.1:p.Arg66Aspfs
NP_001394882.1:p.Arg66Aspfs
NP_001394883.1:p.Arg66Aspfs
NP_001394884.1:p.Arg66Aspfs
NP_001394885.1:p.Arg66Aspfs
NP_001394886.1:p.Arg66Aspfs
NP_001394887.1:p.Arg66Aspfs
NP_001394888.1:p.Arg9Aspfs
NP_001394889.1:p.Arg9Aspfs
NP_001394891.1:p.Arg9Aspfs
NP_001394892.1:p.Arg9Aspfs
NP_001394893.1:p.Arg89Aspfs
NP_001394894.1:p.Arg9Aspfs
NP_001394897.1:p.Arg136Aspfs
NP_001394898.1:p.Arg136Aspfs
NP_001394899.1:p.Arg136Aspfs
NP_001394900.1:p.Arg136Aspfs
NP_001394901.1:p.Arg136Aspfs
NP_001394902.1:p.Arg136Aspfs
NP_001394903.1:p.Arg136Aspfs
NP_001394904.1:p.Arg136Aspfs
NP_001394905.1:p.Arg136Aspfs
NP_001394906.1:p.Arg136Aspfs
NP_001394907.1:p.Arg136Aspfs
NP_001394908.1:p.Arg136Aspfs
NP_001394909.1:p.Arg136Aspfs
NP_001394910.1:p.Arg136Aspfs
NP_001394911.1:p.Arg136Aspfs
NP_001394912.1:p.Arg136Aspfs
NP_001394913.1:p.Arg136Aspfs
NP_001394914.1:p.Arg136Aspfs
NP_001394915.1:p.Arg136Aspfs
NP_001394919.1:p.Arg136Aspfs
NP_001394920.1:p.Arg136Aspfs
NP_001394921.1:p.Arg136Aspfs
NP_001394922.1:p.Arg136Aspfs
NP_001395321.1:p.Arg136Aspfs
NP_001395325.1:p.Arg136Aspfs
NP_001395326.1:p.Arg136Aspfs
NP_001395327.1:p.Arg136Aspfs
NP_001395328.1:p.Arg136Aspfs
NP_001395329.1:p.Arg136Aspfs
NP_001395330.1:p.Arg136Aspfs
NP_001395331.1:p.Arg136Aspfs
NP_001395332.1:p.Arg136Aspfs
NP_001395333.1:p.Arg136Aspfs
NP_001395335.1:p.Arg136Aspfs
NP_001395336.1:p.Arg136Aspfs
NP_001395337.1:p.Arg133Aspfs
NP_001395338.1:p.Arg110Aspfs
NP_001395339.1:p.Arg89Aspfs
NP_001395340.1:p.Arg110Aspfs
NP_001395341.1:p.Arg110Aspfs
NP_001395342.1:p.Arg110Aspfs
NP_001395343.1:p.Arg110Aspfs
NP_001395344.1:p.Arg110Aspfs
NP_001395345.1:p.Arg110Aspfs
NP_001395347.1:p.Arg136Aspfs
NP_001395348.1:p.Arg136Aspfs
NP_001395349.1:p.Arg136Aspfs
NP_001395350.1:p.Arg136Aspfs
NP_001395351.1:p.Arg136Aspfs
NP_001395352.1:p.Arg136Aspfs
NP_001395353.1:p.Arg136Aspfs
NP_001395354.1:p.Arg136Aspfs
NP_001395355.1:p.Arg136Aspfs
NP_001395356.1:p.Arg136Aspfs
NP_001395357.1:p.Arg136Aspfs
NP_001395358.1:p.Arg136Aspfs
NP_001395359.1:p.Arg136Aspfs
NP_001395360.1:p.Arg136Aspfs
NP_001395361.1:p.Arg136Aspfs
NP_001395362.1:p.Arg136Aspfs
NP_001395363.1:p.Arg136Aspfs
NP_001395364.1:p.Arg136Aspfs
NP_001395365.1:p.Arg136Aspfs
NP_001395366.1:p.Arg136Aspfs
NP_001395367.1:p.Arg136Aspfs
NP_001395368.1:p.Arg136Aspfs
NP_001395369.1:p.Arg136Aspfs
NP_001395370.1:p.Arg136Aspfs
NP_001395371.1:p.Arg136Aspfs
NP_001395372.1:p.Arg136Aspfs
NP_001395373.1:p.Arg136Aspfs
NP_001395374.1:p.Arg136Aspfs
NP_001395375.1:p.Arg136Aspfs
NP_001395376.1:p.Arg136Aspfs
NP_001395377.1:p.Arg136Aspfs
NP_001395379.1:p.Arg136Aspfs
NP_001395380.1:p.Arg92Aspfs
NP_001395381.1:p.Arg89Aspfs
NP_001395382.1:p.Arg89Aspfs
NP_001395383.1:p.Arg89Aspfs
NP_001395384.1:p.Arg89Aspfs
NP_001395385.1:p.Arg89Aspfs
NP_001395386.1:p.Arg89Aspfs
NP_001395387.1:p.Arg89Aspfs
NP_001395388.1:p.Arg89Aspfs
NP_001395389.1:p.Arg89Aspfs
NP_001395390.1:p.Arg89Aspfs
NP_001395391.1:p.Arg89Aspfs
NP_001395392.1:p.Arg89Aspfs
NP_001395393.1:p.Arg89Aspfs
NP_001395394.1:p.Arg89Aspfs
NP_001395395.1:p.Arg89Aspfs
NP_001395396.1:p.Arg89Aspfs
NP_001395397.1:p.Arg89Aspfs
NP_001395398.1:p.Arg89Aspfs
NP_001395399.1:p.Arg89Aspfs
NP_001395401.1:p.Arg136Aspfs
NP_001395402.1:p.Arg136Aspfs
NP_001395403.1:p.Arg110Aspfs
NP_001395404.1:p.Arg110Aspfs
NP_001395405.1:p.Arg110Aspfs
NP_001395407.1:p.Arg66Aspfs
NP_001395408.1:p.Arg66Aspfs
NP_001395409.1:p.Arg66Aspfs
NP_001395410.1:p.Arg66Aspfs
NP_001395411.1:p.Arg66Aspfs
NP_001395412.1:p.Arg66Aspfs
NP_001395413.1:p.Arg66Aspfs
NP_001395414.1:p.Arg66Aspfs
NP_001395418.1:p.Arg66Aspfs
NP_001395419.1:p.Arg66Aspfs
NP_001395420.1:p.Arg66Aspfs
NP_001395421.1:p.Arg66Aspfs
NP_001395422.1:p.Arg66Aspfs
NP_001395423.1:p.Arg136Aspfs
NP_001395424.1:p.Arg136Aspfs
NP_001395425.1:p.Arg89Aspfs
NP_001395426.1:p.Arg89Aspfs
NP_001395427.1:p.Arg89Aspfs
NP_001395428.1:p.Arg89Aspfs
NP_001395429.1:p.Arg89Aspfs
NP_001395430.1:p.Arg89Aspfs
NP_001395431.1:p.Arg66Aspfs
NP_001395432.1:p.Arg89Aspfs
NP_001395433.1:p.Arg89Aspfs
NP_001395434.1:p.Arg89Aspfs
NP_001395435.1:p.Arg66Aspfs
NP_001395436.1:p.Arg66Aspfs
NP_001395437.1:p.Arg66Aspfs
NP_001395438.1:p.Arg66Aspfs
NP_001395439.1:p.Arg9Aspfs
NP_001395440.1:p.Arg89Aspfs
NP_001395441.1:p.Arg9Aspfs
NP_001395442.1:p.Arg66Aspfs
NP_001395443.1:p.Arg66Aspfs
NP_009225.1:p.Arg136Aspfs
NP_009225.1:p.Arg136fs
NP_009225.1:p.Arg136fs
NP_009228.2:p.Arg89fs
NP_009229.2:p.Arg136Aspfs
NP_009229.2:p.Arg136fs
NP_009230.2:p.Arg136fs
NP_009231.2:p.Arg136fs
NP_009235.2:p.Arg136Aspfs
LRG_292t1:c.406del
LRG_292:g.113827del
LRG_292p1:p.Arg136fs
NC_000017.10:g.41256174del
NC_000017.10:g.41256177del
NM_007294.3:c.403delA
NM_007294.3:c.406del
NM_007294.3:c.406delA
NM_007298.3:c.406del
NR_027676.2:n.586del
p.Arg136fs

Protein change:

R136fs

Links:

dbSNP: rs80357709

NCBI 1000 Genomes Browser:

rs80357709

Molecular consequence:

NM_001407571.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.394delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.394delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.394delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408410.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408451.1:c.271delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408452.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408453.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408454.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408455.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408456.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408457.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408458.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408459.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408460.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408461.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408462.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408463.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408464.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408465.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408466.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408467.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408468.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408469.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408470.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408478.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408479.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408480.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408481.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408482.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408483.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408484.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408485.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408489.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408490.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408491.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408492.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408493.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408496.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408497.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408498.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408499.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408500.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408501.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408502.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408503.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408504.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408505.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408506.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408507.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408508.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408509.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408510.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408511.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408512.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408513.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408514.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.265del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027676.2:n.586del - 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
SCV000323715	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Oct 18, 2016)	germline	curation	Citation Link,
SCV000325834	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,
SCV002589068	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing
SCV005058301	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 17, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323715.2

#	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, SCV000325834.4

#	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	1	not provided

From BRCAlab, Lund University, SCV002589068.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

From Baylor Genetics, SCV005058301.1

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

#	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