NM_007294.4(BRCA1):c.121dup (p.His41fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 24, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000755023.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.121dup (p.His41fs)]

NM_007294.4(BRCA1):c.121dup (p.His41fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.121dup (p.His41fs)

HGVS:

NC_000017.11:g.43115740dup
NG_005905.2:g.102245dup
NM_001407571.1:c.-69dup
NM_001407581.1:c.120dup
NM_001407582.1:c.120dup
NM_001407583.1:c.120dup
NM_001407585.1:c.120dup
NM_001407587.1:c.120dup
NM_001407590.1:c.120dup
NM_001407591.1:c.120dup
NM_001407593.1:c.120dup
NM_001407594.1:c.120dup
NM_001407596.1:c.120dup
NM_001407597.1:c.120dup
NM_001407598.1:c.120dup
NM_001407602.1:c.120dup
NM_001407603.1:c.120dup
NM_001407605.1:c.120dup
NM_001407610.1:c.120dup
NM_001407611.1:c.120dup
NM_001407612.1:c.120dup
NM_001407613.1:c.120dup
NM_001407614.1:c.120dup
NM_001407615.1:c.120dup
NM_001407616.1:c.120dup
NM_001407617.1:c.120dup
NM_001407618.1:c.120dup
NM_001407619.1:c.120dup
NM_001407620.1:c.120dup
NM_001407621.1:c.120dup
NM_001407622.1:c.120dup
NM_001407623.1:c.120dup
NM_001407624.1:c.120dup
NM_001407625.1:c.120dup
NM_001407626.1:c.120dup
NM_001407627.1:c.120dup
NM_001407628.1:c.120dup
NM_001407629.1:c.120dup
NM_001407630.1:c.120dup
NM_001407631.1:c.120dup
NM_001407632.1:c.120dup
NM_001407633.1:c.120dup
NM_001407634.1:c.120dup
NM_001407635.1:c.120dup
NM_001407636.1:c.120dup
NM_001407637.1:c.120dup
NM_001407638.1:c.120dup
NM_001407639.1:c.120dup
NM_001407640.1:c.120dup
NM_001407641.1:c.120dup
NM_001407642.1:c.120dup
NM_001407644.1:c.120dup
NM_001407645.1:c.120dup
NM_001407646.1:c.120dup
NM_001407647.1:c.120dup
NM_001407648.1:c.120dup
NM_001407649.1:c.120dup
NM_001407652.1:c.120dup
NM_001407653.1:c.120dup
NM_001407654.1:c.120dup
NM_001407655.1:c.120dup
NM_001407656.1:c.120dup
NM_001407657.1:c.120dup
NM_001407658.1:c.120dup
NM_001407659.1:c.120dup
NM_001407660.1:c.120dup
NM_001407661.1:c.120dup
NM_001407662.1:c.120dup
NM_001407663.1:c.120dup
NM_001407664.1:c.120dup
NM_001407665.1:c.120dup
NM_001407666.1:c.120dup
NM_001407667.1:c.120dup
NM_001407668.1:c.120dup
NM_001407669.1:c.120dup
NM_001407670.1:c.120dup
NM_001407671.1:c.120dup
NM_001407672.1:c.120dup
NM_001407673.1:c.120dup
NM_001407674.1:c.120dup
NM_001407675.1:c.120dup
NM_001407676.1:c.120dup
NM_001407677.1:c.120dup
NM_001407678.1:c.120dup
NM_001407679.1:c.120dup
NM_001407680.1:c.120dup
NM_001407681.1:c.120dup
NM_001407682.1:c.120dup
NM_001407683.1:c.120dup
NM_001407684.1:c.120dup
NM_001407685.1:c.120dup
NM_001407686.1:c.120dup
NM_001407687.1:c.120dup
NM_001407688.1:c.120dup
NM_001407689.1:c.120dup
NM_001407690.1:c.120dup
NM_001407691.1:c.120dup
NM_001407694.1:c.-138dup
NM_001407695.1:c.-142dup
NM_001407696.1:c.-138dup
NM_001407697.1:c.-22dup
NM_001407724.1:c.-138dup
NM_001407725.1:c.-22dup
NM_001407727.1:c.-138dup
NM_001407728.1:c.-22dup
NM_001407729.1:c.-22dup
NM_001407730.1:c.-22dup
NM_001407731.1:c.-138dup
NM_001407733.1:c.-138dup
NM_001407734.1:c.-22dup
NM_001407735.1:c.-22dup
NM_001407737.1:c.-22dup
NM_001407739.1:c.-22dup
NM_001407740.1:c.-22dup
NM_001407741.1:c.-22dup
NM_001407743.1:c.-22dup
NM_001407745.1:c.-22dup
NM_001407746.1:c.-138dup
NM_001407748.1:c.-22dup
NM_001407749.1:c.-138dup
NM_001407752.1:c.-22dup
NM_001407838.1:c.-22dup
NM_001407839.1:c.-22dup
NM_001407841.1:c.-18dup
NM_001407842.1:c.-138dup
NM_001407843.1:c.-138dup
NM_001407844.1:c.-22dup
NM_001407846.1:c.-22dup
NM_001407847.1:c.-22dup
NM_001407848.1:c.-22dup
NM_001407850.1:c.-22dup
NM_001407851.1:c.-22dup
NM_001407853.1:c.-69dup
NM_001407854.1:c.120dup
NM_001407858.1:c.120dup
NM_001407859.1:c.120dup
NM_001407860.1:c.120dup
NM_001407861.1:c.120dup
NM_001407862.1:c.120dup
NM_001407863.1:c.120dup
NM_001407874.1:c.120dup
NM_001407875.1:c.120dup
NM_001407879.1:c.-69dup
NM_001407882.1:c.-69dup
NM_001407884.1:c.-69dup
NM_001407885.1:c.-69dup
NM_001407886.1:c.-69dup
NM_001407887.1:c.-69dup
NM_001407889.1:c.-185dup
NM_001407894.1:c.-69dup
NM_001407895.1:c.-69dup
NM_001407896.1:c.-69dup
NM_001407897.1:c.-69dup
NM_001407899.1:c.-69dup
NM_001407900.1:c.-185dup
NM_001407904.1:c.-69dup
NM_001407906.1:c.-69dup
NM_001407907.1:c.-69dup
NM_001407908.1:c.-69dup
NM_001407909.1:c.-69dup
NM_001407910.1:c.-69dup
NM_001407915.1:c.-69dup
NM_001407916.1:c.-69dup
NM_001407917.1:c.-69dup
NM_001407918.1:c.-69dup
NM_001407919.1:c.120dup
NM_001407920.1:c.-22dup
NM_001407921.1:c.-22dup
NM_001407922.1:c.-22dup
NM_001407923.1:c.-22dup
NM_001407926.1:c.-22dup
NM_001407927.1:c.-22dup
NM_001407930.1:c.-138dup
NM_001407933.1:c.-22dup
NM_001407934.1:c.-22dup
NM_001407935.1:c.-22dup
NM_001407937.1:c.120dup
NM_001407938.1:c.120dup
NM_001407939.1:c.120dup
NM_001407940.1:c.120dup
NM_001407941.1:c.120dup
NM_001407942.1:c.-138dup
NM_001407943.1:c.-22dup
NM_001407944.1:c.-22dup
NM_001407946.1:c.-69dup
NM_001407947.1:c.-69dup
NM_001407948.1:c.-69dup
NM_001407949.1:c.-69dup
NM_001407950.1:c.-69dup
NM_001407951.1:c.-69dup
NM_001407952.1:c.-69dup
NM_001407953.1:c.-69dup
NM_001407954.1:c.-69dup
NM_001407955.1:c.-69dup
NM_001407956.1:c.-69dup
NM_001407957.1:c.-69dup
NM_001407958.1:c.-69dup
NM_001407960.1:c.-184dup
NM_001407962.1:c.-184dup
NM_001407964.1:c.-22dup
NM_001407965.1:c.-300dup
NM_001407968.1:c.120dup
NM_001407969.1:c.120dup
NM_001407970.1:c.120dup
NM_001407971.1:c.120dup
NM_001407972.1:c.120dup
NM_001407973.1:c.120dup
NM_001407974.1:c.120dup
NM_001407975.1:c.120dup
NM_001407976.1:c.120dup
NM_001407977.1:c.120dup
NM_001407978.1:c.120dup
NM_001407979.1:c.120dup
NM_001407980.1:c.120dup
NM_001407981.1:c.120dup
NM_001407982.1:c.120dup
NM_001407983.1:c.120dup
NM_001407984.1:c.120dup
NM_001407985.1:c.120dup
NM_001407986.1:c.120dup
NM_001407990.1:c.120dup
NM_001407991.1:c.120dup
NM_001407992.1:c.120dup
NM_001407993.1:c.120dup
NM_001408392.1:c.120dup
NM_001408396.1:c.120dup
NM_001408397.1:c.120dup
NM_001408398.1:c.120dup
NM_001408399.1:c.120dup
NM_001408400.1:c.120dup
NM_001408401.1:c.120dup
NM_001408402.1:c.120dup
NM_001408403.1:c.120dup
NM_001408404.1:c.120dup
NM_001408406.1:c.120dup
NM_001408407.1:c.120dup
NM_001408408.1:c.120dup
NM_001408409.1:c.120dup
NM_001408410.1:c.-22dup
NM_001408411.1:c.120dup
NM_001408412.1:c.120dup
NM_001408413.1:c.120dup
NM_001408414.1:c.120dup
NM_001408415.1:c.120dup
NM_001408416.1:c.120dup
NM_001408418.1:c.120dup
NM_001408419.1:c.120dup
NM_001408420.1:c.120dup
NM_001408421.1:c.120dup
NM_001408422.1:c.120dup
NM_001408423.1:c.120dup
NM_001408424.1:c.120dup
NM_001408425.1:c.120dup
NM_001408426.1:c.120dup
NM_001408427.1:c.120dup
NM_001408428.1:c.120dup
NM_001408429.1:c.120dup
NM_001408430.1:c.120dup
NM_001408431.1:c.120dup
NM_001408432.1:c.120dup
NM_001408433.1:c.120dup
NM_001408434.1:c.120dup
NM_001408435.1:c.120dup
NM_001408436.1:c.120dup
NM_001408437.1:c.120dup
NM_001408438.1:c.120dup
NM_001408439.1:c.120dup
NM_001408440.1:c.120dup
NM_001408441.1:c.120dup
NM_001408442.1:c.120dup
NM_001408443.1:c.120dup
NM_001408444.1:c.120dup
NM_001408445.1:c.120dup
NM_001408446.1:c.120dup
NM_001408447.1:c.120dup
NM_001408448.1:c.120dup
NM_001408450.1:c.120dup
NM_001408452.1:c.-22dup
NM_001408453.1:c.-22dup
NM_001408455.1:c.-138dup
NM_001408456.1:c.-138dup
NM_001408458.1:c.-22dup
NM_001408462.1:c.-22dup
NM_001408463.1:c.-22dup
NM_001408465.1:c.-142dup
NM_001408466.1:c.-22dup
NM_001408468.1:c.-138dup
NM_001408469.1:c.-22dup
NM_001408470.1:c.-22dup
NM_001408472.1:c.120dup
NM_001408473.1:c.120dup
NM_001408474.1:c.120dup
NM_001408475.1:c.120dup
NM_001408476.1:c.120dup
NM_001408478.1:c.-69dup
NM_001408479.1:c.-69dup
NM_001408480.1:c.-69dup
NM_001408481.1:c.-69dup
NM_001408482.1:c.-69dup
NM_001408483.1:c.-69dup
NM_001408484.1:c.-69dup
NM_001408485.1:c.-69dup
NM_001408489.1:c.-69dup
NM_001408490.1:c.-69dup
NM_001408491.1:c.-69dup
NM_001408492.1:c.-185dup
NM_001408493.1:c.-69dup
NM_001408494.1:c.120dup
NM_001408495.1:c.120dup
NM_001408497.1:c.-22dup
NM_001408499.1:c.-22dup
NM_001408500.1:c.-22dup
NM_001408501.1:c.-138dup
NM_001408502.1:c.-69dup
NM_001408503.1:c.-22dup
NM_001408504.1:c.-22dup
NM_001408505.1:c.-22dup
NM_001408506.1:c.-69dup
NM_001408507.1:c.-69dup
NM_001408508.1:c.-69dup
NM_001408509.1:c.-69dup
NM_001408510.1:c.-184dup
NM_001408512.1:c.-184dup
NM_001408513.1:c.-69dup
NM_001408514.1:c.-69dup
NM_007294.4:c.121dupMANE SELECT
NM_007297.4:c.-8+8278dup
NM_007298.4:c.120dup
NM_007299.4:c.121dup
NM_007300.4:c.121dup
NM_007304.2:c.120dup
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.120dup
LRG_292:g.102245dup
LRG_292p1:p.His41Profs
NC_000017.10:g.41267757dup
NM_007294.3:c.120dup
NM_007294.3:c.121dupC
NM_007298.3:c.121dup
NR_027676.2:n.323dup

Protein change:

H41fs

Links:

dbSNP: rs1555599226

NCBI 1000 Genomes Browser:

rs1555599226

Molecular consequence:

NM_001407581.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.121dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.121dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.121dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.120dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.-8+8278dup - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.323dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Paragonimus heterotremus strain LC, whole genome shotgun sequencing project
Paragonimus heterotremus strain LC, whole genome shotgun sequencing project
gi|1860749639|gb|LUCH00000000.1|LUC 0000

Nucleotide
Homo sapiens zinc finger protein 841 (ZNF841), transcript variant 2, mRNA
Homo sapiens zinc finger protein 841 (ZNF841), transcript variant 2, mRNA
gi|1890327889|ref|NM_001321349.2|

Nucleotide
Uncultured planctomycete GT43 16S ribosomal RNA gene, partial sequence
Uncultured planctomycete GT43 16S ribosomal RNA gene, partial sequence
gi|8050784|gb|AF256037.1|

Nucleotide
Burkholderia sp. YXE3-19 16S ribosomal RNA gene, partial sequence
Burkholderia sp. YXE3-19 16S ribosomal RNA gene, partial sequence
gi|334855456|gb|JF701980.1|

Nucleotide
Burkholderia sp. YXE3-4 16S ribosomal RNA gene, partial sequence
Burkholderia sp. YXE3-4 16S ribosomal RNA gene, partial sequence
gi|334855453|gb|JF701977.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882843	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 24, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882843

Department of Molecular Diagnostics, Institute of Oncology Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 24, 2018)

germline

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	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 Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV000882843.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine