NM_007294.4(BRCA1):c.1807dup (p.Ser603fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 23, 2020
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:: RCV001955845.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.1807dup (p.Ser603fs)]

NM_007294.4(BRCA1):c.1807dup (p.Ser603fs)

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.1807dup (p.Ser603fs)

HGVS:

NC_000017.11:g.43093725dup
NG_005905.2:g.124260dup
NM_001407571.1:c.1594dup
NM_001407581.1:c.1807dup
NM_001407582.1:c.1807dup
NM_001407583.1:c.1807dup
NM_001407585.1:c.1807dup
NM_001407587.1:c.1804dup
NM_001407590.1:c.1804dup
NM_001407591.1:c.1804dup
NM_001407593.1:c.1807dup
NM_001407594.1:c.1807dup
NM_001407596.1:c.1807dup
NM_001407597.1:c.1807dup
NM_001407598.1:c.1807dup
NM_001407602.1:c.1807dup
NM_001407603.1:c.1807dup
NM_001407605.1:c.1807dup
NM_001407610.1:c.1804dup
NM_001407611.1:c.1804dup
NM_001407612.1:c.1804dup
NM_001407613.1:c.1804dup
NM_001407614.1:c.1804dup
NM_001407615.1:c.1804dup
NM_001407616.1:c.1807dup
NM_001407617.1:c.1807dup
NM_001407618.1:c.1807dup
NM_001407619.1:c.1807dup
NM_001407620.1:c.1807dup
NM_001407621.1:c.1807dup
NM_001407622.1:c.1807dup
NM_001407623.1:c.1807dup
NM_001407624.1:c.1807dup
NM_001407625.1:c.1807dup
NM_001407626.1:c.1807dup
NM_001407627.1:c.1804dup
NM_001407628.1:c.1804dup
NM_001407629.1:c.1804dup
NM_001407630.1:c.1804dup
NM_001407631.1:c.1804dup
NM_001407632.1:c.1804dup
NM_001407633.1:c.1804dup
NM_001407634.1:c.1804dup
NM_001407635.1:c.1804dup
NM_001407636.1:c.1804dup
NM_001407637.1:c.1804dup
NM_001407638.1:c.1804dup
NM_001407639.1:c.1807dup
NM_001407640.1:c.1807dup
NM_001407641.1:c.1807dup
NM_001407642.1:c.1807dup
NM_001407644.1:c.1804dup
NM_001407645.1:c.1804dup
NM_001407646.1:c.1798dup
NM_001407647.1:c.1798dup
NM_001407648.1:c.1684dup
NM_001407649.1:c.1681dup
NM_001407652.1:c.1807dup
NM_001407653.1:c.1729dup
NM_001407654.1:c.1729dup
NM_001407655.1:c.1729dup
NM_001407656.1:c.1729dup
NM_001407657.1:c.1729dup
NM_001407658.1:c.1729dup
NM_001407659.1:c.1726dup
NM_001407660.1:c.1726dup
NM_001407661.1:c.1726dup
NM_001407662.1:c.1726dup
NM_001407663.1:c.1729dup
NM_001407664.1:c.1684dup
NM_001407665.1:c.1684dup
NM_001407666.1:c.1684dup
NM_001407667.1:c.1684dup
NM_001407668.1:c.1684dup
NM_001407669.1:c.1684dup
NM_001407670.1:c.1681dup
NM_001407671.1:c.1681dup
NM_001407672.1:c.1681dup
NM_001407673.1:c.1681dup
NM_001407674.1:c.1684dup
NM_001407675.1:c.1684dup
NM_001407676.1:c.1684dup
NM_001407677.1:c.1684dup
NM_001407678.1:c.1684dup
NM_001407679.1:c.1684dup
NM_001407680.1:c.1684dup
NM_001407681.1:c.1684dup
NM_001407682.1:c.1684dup
NM_001407683.1:c.1684dup
NM_001407684.1:c.1807dup
NM_001407685.1:c.1681dup
NM_001407686.1:c.1681dup
NM_001407687.1:c.1681dup
NM_001407688.1:c.1681dup
NM_001407689.1:c.1681dup
NM_001407690.1:c.1681dup
NM_001407691.1:c.1681dup
NM_001407692.1:c.1666dup
NM_001407694.1:c.1666dup
NM_001407695.1:c.1666dup
NM_001407696.1:c.1666dup
NM_001407697.1:c.1666dup
NM_001407698.1:c.1666dup
NM_001407724.1:c.1666dup
NM_001407725.1:c.1666dup
NM_001407726.1:c.1666dup
NM_001407727.1:c.1666dup
NM_001407728.1:c.1666dup
NM_001407729.1:c.1666dup
NM_001407730.1:c.1666dup
NM_001407731.1:c.1666dup
NM_001407732.1:c.1666dup
NM_001407733.1:c.1666dup
NM_001407734.1:c.1666dup
NM_001407735.1:c.1666dup
NM_001407736.1:c.1666dup
NM_001407737.1:c.1666dup
NM_001407738.1:c.1666dup
NM_001407739.1:c.1666dup
NM_001407740.1:c.1663dup
NM_001407741.1:c.1663dup
NM_001407742.1:c.1663dup
NM_001407743.1:c.1663dup
NM_001407744.1:c.1663dup
NM_001407745.1:c.1663dup
NM_001407746.1:c.1663dup
NM_001407747.1:c.1663dup
NM_001407748.1:c.1663dup
NM_001407749.1:c.1663dup
NM_001407750.1:c.1666dup
NM_001407751.1:c.1666dup
NM_001407752.1:c.1666dup
NM_001407838.1:c.1663dup
NM_001407839.1:c.1663dup
NM_001407841.1:c.1663dup
NM_001407842.1:c.1663dup
NM_001407843.1:c.1663dup
NM_001407844.1:c.1663dup
NM_001407845.1:c.1663dup
NM_001407846.1:c.1663dup
NM_001407847.1:c.1663dup
NM_001407848.1:c.1663dup
NM_001407849.1:c.1663dup
NM_001407850.1:c.1666dup
NM_001407851.1:c.1666dup
NM_001407852.1:c.1666dup
NM_001407853.1:c.1594dup
NM_001407854.1:c.1807dup
NM_001407858.1:c.1807dup
NM_001407859.1:c.1807dup
NM_001407860.1:c.1804dup
NM_001407861.1:c.1804dup
NM_001407862.1:c.1606dup
NM_001407863.1:c.1684dup
NM_001407874.1:c.1603dup
NM_001407875.1:c.1603dup
NM_001407879.1:c.1597dup
NM_001407881.1:c.1597dup
NM_001407882.1:c.1597dup
NM_001407884.1:c.1597dup
NM_001407885.1:c.1597dup
NM_001407886.1:c.1597dup
NM_001407887.1:c.1597dup
NM_001407889.1:c.1597dup
NM_001407894.1:c.1594dup
NM_001407895.1:c.1594dup
NM_001407896.1:c.1594dup
NM_001407897.1:c.1594dup
NM_001407898.1:c.1594dup
NM_001407899.1:c.1594dup
NM_001407900.1:c.1597dup
NM_001407902.1:c.1597dup
NM_001407904.1:c.1597dup
NM_001407906.1:c.1597dup
NM_001407907.1:c.1597dup
NM_001407908.1:c.1597dup
NM_001407909.1:c.1597dup
NM_001407910.1:c.1597dup
NM_001407915.1:c.1594dup
NM_001407916.1:c.1594dup
NM_001407917.1:c.1594dup
NM_001407918.1:c.1594dup
NM_001407919.1:c.1684dup
NM_001407920.1:c.1543dup
NM_001407921.1:c.1543dup
NM_001407922.1:c.1543dup
NM_001407923.1:c.1543dup
NM_001407924.1:c.1543dup
NM_001407925.1:c.1543dup
NM_001407926.1:c.1543dup
NM_001407927.1:c.1543dup
NM_001407928.1:c.1543dup
NM_001407929.1:c.1543dup
NM_001407930.1:c.1540dup
NM_001407931.1:c.1540dup
NM_001407932.1:c.1540dup
NM_001407933.1:c.1543dup
NM_001407934.1:c.1540dup
NM_001407935.1:c.1543dup
NM_001407936.1:c.1540dup
NM_001407937.1:c.1684dup
NM_001407938.1:c.1684dup
NM_001407939.1:c.1684dup
NM_001407940.1:c.1681dup
NM_001407941.1:c.1681dup
NM_001407942.1:c.1666dup
NM_001407943.1:c.1663dup
NM_001407944.1:c.1666dup
NM_001407945.1:c.1666dup
NM_001407946.1:c.1474dup
NM_001407947.1:c.1474dup
NM_001407948.1:c.1474dup
NM_001407949.1:c.1474dup
NM_001407950.1:c.1474dup
NM_001407951.1:c.1474dup
NM_001407952.1:c.1474dup
NM_001407953.1:c.1474dup
NM_001407954.1:c.1471dup
NM_001407955.1:c.1471dup
NM_001407956.1:c.1471dup
NM_001407957.1:c.1474dup
NM_001407958.1:c.1471dup
NM_001407959.1:c.1426dup
NM_001407960.1:c.1426dup
NM_001407962.1:c.1423dup
NM_001407963.1:c.1426dup
NM_001407964.1:c.1663dup
NM_001407965.1:c.1303dup
NM_001407966.1:c.919dup
NM_001407967.1:c.919dup
NM_001407968.1:c.787+1020dup
NM_001407969.1:c.787+1020dup
NM_001407970.1:c.787+1020dup
NM_001407971.1:c.787+1020dup
NM_001407972.1:c.784+1020dup
NM_001407973.1:c.787+1020dup
NM_001407974.1:c.787+1020dup
NM_001407975.1:c.787+1020dup
NM_001407976.1:c.787+1020dup
NM_001407977.1:c.787+1020dup
NM_001407978.1:c.787+1020dup
NM_001407979.1:c.787+1020dup
NM_001407980.1:c.787+1020dup
NM_001407981.1:c.787+1020dup
NM_001407982.1:c.787+1020dup
NM_001407983.1:c.787+1020dup
NM_001407984.1:c.784+1020dup
NM_001407985.1:c.784+1020dup
NM_001407986.1:c.784+1020dup
NM_001407990.1:c.787+1020dup
NM_001407991.1:c.784+1020dup
NM_001407992.1:c.784+1020dup
NM_001407993.1:c.787+1020dup
NM_001408392.1:c.784+1020dup
NM_001408396.1:c.784+1020dup
NM_001408397.1:c.784+1020dup
NM_001408398.1:c.784+1020dup
NM_001408399.1:c.784+1020dup
NM_001408400.1:c.784+1020dup
NM_001408401.1:c.784+1020dup
NM_001408402.1:c.784+1020dup
NM_001408403.1:c.787+1020dup
NM_001408404.1:c.787+1020dup
NM_001408406.1:c.790+1017dup
NM_001408407.1:c.784+1020dup
NM_001408408.1:c.778+1020dup
NM_001408409.1:c.709+1020dup
NM_001408410.1:c.646+1020dup
NM_001408411.1:c.709+1020dup
NM_001408412.1:c.709+1020dup
NM_001408413.1:c.706+1020dup
NM_001408414.1:c.709+1020dup
NM_001408415.1:c.709+1020dup
NM_001408416.1:c.706+1020dup
NM_001408418.1:c.670+2122dup
NM_001408419.1:c.670+2122dup
NM_001408420.1:c.670+2122dup
NM_001408421.1:c.667+2122dup
NM_001408422.1:c.670+2122dup
NM_001408423.1:c.670+2122dup
NM_001408424.1:c.667+2122dup
NM_001408425.1:c.664+1020dup
NM_001408426.1:c.664+1020dup
NM_001408427.1:c.664+1020dup
NM_001408428.1:c.664+1020dup
NM_001408429.1:c.664+1020dup
NM_001408430.1:c.664+1020dup
NM_001408431.1:c.667+2122dup
NM_001408432.1:c.661+1020dup
NM_001408433.1:c.661+1020dup
NM_001408434.1:c.661+1020dup
NM_001408435.1:c.661+1020dup
NM_001408436.1:c.664+1020dup
NM_001408437.1:c.664+1020dup
NM_001408438.1:c.664+1020dup
NM_001408439.1:c.664+1020dup
NM_001408440.1:c.664+1020dup
NM_001408441.1:c.664+1020dup
NM_001408442.1:c.664+1020dup
NM_001408443.1:c.664+1020dup
NM_001408444.1:c.664+1020dup
NM_001408445.1:c.661+1020dup
NM_001408446.1:c.661+1020dup
NM_001408447.1:c.661+1020dup
NM_001408448.1:c.661+1020dup
NM_001408450.1:c.661+1020dup
NM_001408451.1:c.652+1020dup
NM_001408452.1:c.646+1020dup
NM_001408453.1:c.646+1020dup
NM_001408454.1:c.646+1020dup
NM_001408455.1:c.646+1020dup
NM_001408456.1:c.646+1020dup
NM_001408457.1:c.646+1020dup
NM_001408458.1:c.646+1020dup
NM_001408459.1:c.646+1020dup
NM_001408460.1:c.646+1020dup
NM_001408461.1:c.646+1020dup
NM_001408462.1:c.643+1020dup
NM_001408463.1:c.643+1020dup
NM_001408464.1:c.643+1020dup
NM_001408465.1:c.643+1020dup
NM_001408466.1:c.646+1020dup
NM_001408467.1:c.646+1020dup
NM_001408468.1:c.643+1020dup
NM_001408469.1:c.646+1020dup
NM_001408470.1:c.643+1020dup
NM_001408472.1:c.787+1020dup
NM_001408473.1:c.784+1020dup
NM_001408474.1:c.586+1020dup
NM_001408475.1:c.583+1020dup
NM_001408476.1:c.586+1020dup
NM_001408478.1:c.577+1020dup
NM_001408479.1:c.577+1020dup
NM_001408480.1:c.577+1020dup
NM_001408481.1:c.577+1020dup
NM_001408482.1:c.577+1020dup
NM_001408483.1:c.577+1020dup
NM_001408484.1:c.577+1020dup
NM_001408485.1:c.577+1020dup
NM_001408489.1:c.577+1020dup
NM_001408490.1:c.574+1020dup
NM_001408491.1:c.574+1020dup
NM_001408492.1:c.577+1020dup
NM_001408493.1:c.574+1020dup
NM_001408494.1:c.548-2692dup
NM_001408495.1:c.545-2692dup
NM_001408496.1:c.523+1020dup
NM_001408497.1:c.523+1020dup
NM_001408498.1:c.523+1020dup
NM_001408499.1:c.523+1020dup
NM_001408500.1:c.523+1020dup
NM_001408501.1:c.523+1020dup
NM_001408502.1:c.454+1020dup
NM_001408503.1:c.520+1020dup
NM_001408504.1:c.520+1020dup
NM_001408505.1:c.520+1020dup
NM_001408506.1:c.460+2122dup
NM_001408507.1:c.460+2122dup
NM_001408508.1:c.451+1020dup
NM_001408509.1:c.451+1020dup
NM_001408510.1:c.406+1020dup
NM_001408511.1:c.404-2692dup
NM_001408512.1:c.283+1020dup
NM_001408513.1:c.577+1020dup
NM_001408514.1:c.577+1020dup
NM_007294.4:c.1807dupMANE SELECT
NM_007297.4:c.1666dup
NM_007298.4:c.787+1020dup
NM_007299.4:c.787+1020dup
NM_007300.4:c.1807dup
NP_001394500.1:p.Ser532fs
NP_001394510.1:p.Ser603fs
NP_001394511.1:p.Ser603fs
NP_001394512.1:p.Ser603fs
NP_001394514.1:p.Ser603fs
NP_001394516.1:p.Ser602fs
NP_001394519.1:p.Ser602fs
NP_001394520.1:p.Ser602fs
NP_001394522.1:p.Ser603fs
NP_001394523.1:p.Ser603fs
NP_001394525.1:p.Ser603fs
NP_001394526.1:p.Ser603fs
NP_001394527.1:p.Ser603fs
NP_001394531.1:p.Ser603fs
NP_001394532.1:p.Ser603fs
NP_001394534.1:p.Ser603fs
NP_001394539.1:p.Ser602fs
NP_001394540.1:p.Ser602fs
NP_001394541.1:p.Ser602fs
NP_001394542.1:p.Ser602fs
NP_001394543.1:p.Ser602fs
NP_001394544.1:p.Ser602fs
NP_001394545.1:p.Ser603fs
NP_001394546.1:p.Ser603fs
NP_001394547.1:p.Ser603fs
NP_001394548.1:p.Ser603fs
NP_001394549.1:p.Ser603fs
NP_001394550.1:p.Ser603fs
NP_001394551.1:p.Ser603fs
NP_001394552.1:p.Ser603fs
NP_001394553.1:p.Ser603fs
NP_001394554.1:p.Ser603fs
NP_001394555.1:p.Ser603fs
NP_001394556.1:p.Ser602fs
NP_001394557.1:p.Ser602fs
NP_001394558.1:p.Ser602fs
NP_001394559.1:p.Ser602fs
NP_001394560.1:p.Ser602fs
NP_001394561.1:p.Ser602fs
NP_001394562.1:p.Ser602fs
NP_001394563.1:p.Ser602fs
NP_001394564.1:p.Ser602fs
NP_001394565.1:p.Ser602fs
NP_001394566.1:p.Ser602fs
NP_001394567.1:p.Ser602fs
NP_001394568.1:p.Ser603fs
NP_001394569.1:p.Ser603fs
NP_001394570.1:p.Ser603fs
NP_001394571.1:p.Ser603fs
NP_001394573.1:p.Ser602fs
NP_001394574.1:p.Ser602fs
NP_001394575.1:p.Ser600fs
NP_001394576.1:p.Ser600fs
NP_001394577.1:p.Ser562fs
NP_001394578.1:p.Ser561fs
NP_001394581.1:p.Ser603fs
NP_001394582.1:p.Ser577fs
NP_001394583.1:p.Ser577fs
NP_001394584.1:p.Ser577fs
NP_001394585.1:p.Ser577fs
NP_001394586.1:p.Ser577fs
NP_001394587.1:p.Ser577fs
NP_001394588.1:p.Ser576fs
NP_001394589.1:p.Ser576fs
NP_001394590.1:p.Ser576fs
NP_001394591.1:p.Ser576fs
NP_001394592.1:p.Ser577fs
NP_001394593.1:p.Ser562fs
NP_001394594.1:p.Ser562fs
NP_001394595.1:p.Ser562fs
NP_001394596.1:p.Ser562fs
NP_001394597.1:p.Ser562fs
NP_001394598.1:p.Ser562fs
NP_001394599.1:p.Ser561fs
NP_001394600.1:p.Ser561fs
NP_001394601.1:p.Ser561fs
NP_001394602.1:p.Ser561fs
NP_001394603.1:p.Ser562fs
NP_001394604.1:p.Ser562fs
NP_001394605.1:p.Ser562fs
NP_001394606.1:p.Ser562fs
NP_001394607.1:p.Ser562fs
NP_001394608.1:p.Ser562fs
NP_001394609.1:p.Ser562fs
NP_001394610.1:p.Ser562fs
NP_001394611.1:p.Ser562fs
NP_001394612.1:p.Ser562fs
NP_001394613.1:p.Ser603fs
NP_001394614.1:p.Ser561fs
NP_001394615.1:p.Ser561fs
NP_001394616.1:p.Ser561fs
NP_001394617.1:p.Ser561fs
NP_001394618.1:p.Ser561fs
NP_001394619.1:p.Ser561fs
NP_001394620.1:p.Ser561fs
NP_001394621.1:p.Ser556fs
NP_001394623.1:p.Ser556fs
NP_001394624.1:p.Ser556fs
NP_001394625.1:p.Ser556fs
NP_001394626.1:p.Ser556fs
NP_001394627.1:p.Ser556fs
NP_001394653.1:p.Ser556fs
NP_001394654.1:p.Ser556fs
NP_001394655.1:p.Ser556fs
NP_001394656.1:p.Ser556fs
NP_001394657.1:p.Ser556fs
NP_001394658.1:p.Ser556fs
NP_001394659.1:p.Ser556fs
NP_001394660.1:p.Ser556fs
NP_001394661.1:p.Ser556fs
NP_001394662.1:p.Ser556fs
NP_001394663.1:p.Ser556fs
NP_001394664.1:p.Ser556fs
NP_001394665.1:p.Ser556fs
NP_001394666.1:p.Ser556fs
NP_001394667.1:p.Ser556fs
NP_001394668.1:p.Ser556fs
NP_001394669.1:p.Ser555fs
NP_001394670.1:p.Ser555fs
NP_001394671.1:p.Ser555fs
NP_001394672.1:p.Ser555fs
NP_001394673.1:p.Ser555fs
NP_001394674.1:p.Ser555fs
NP_001394675.1:p.Ser555fs
NP_001394676.1:p.Ser555fs
NP_001394677.1:p.Ser555fs
NP_001394678.1:p.Ser555fs
NP_001394679.1:p.Ser556fs
NP_001394680.1:p.Ser556fs
NP_001394681.1:p.Ser556fs
NP_001394767.1:p.Ser555fs
NP_001394768.1:p.Ser555fs
NP_001394770.1:p.Ser555fs
NP_001394771.1:p.Ser555fs
NP_001394772.1:p.Ser555fs
NP_001394773.1:p.Ser555fs
NP_001394774.1:p.Ser555fs
NP_001394775.1:p.Ser555fs
NP_001394776.1:p.Ser555fs
NP_001394777.1:p.Ser555fs
NP_001394778.1:p.Ser555fs
NP_001394779.1:p.Ser556fs
NP_001394780.1:p.Ser556fs
NP_001394781.1:p.Ser556fs
NP_001394782.1:p.Ser532fs
NP_001394783.1:p.Ser603fs
NP_001394787.1:p.Ser603fs
NP_001394788.1:p.Ser603fs
NP_001394789.1:p.Ser602fs
NP_001394790.1:p.Ser602fs
NP_001394791.1:p.Ser536fs
NP_001394792.1:p.Ser562fs
NP_001394803.1:p.Ser535fs
NP_001394804.1:p.Ser535fs
NP_001394808.1:p.Ser533fs
NP_001394810.1:p.Ser533fs
NP_001394811.1:p.Ser533fs
NP_001394813.1:p.Ser533fs
NP_001394814.1:p.Ser533fs
NP_001394815.1:p.Ser533fs
NP_001394816.1:p.Ser533fs
NP_001394818.1:p.Ser533fs
NP_001394823.1:p.Ser532fs
NP_001394824.1:p.Ser532fs
NP_001394825.1:p.Ser532fs
NP_001394826.1:p.Ser532fs
NP_001394827.1:p.Ser532fs
NP_001394828.1:p.Ser532fs
NP_001394829.1:p.Ser533fs
NP_001394831.1:p.Ser533fs
NP_001394833.1:p.Ser533fs
NP_001394835.1:p.Ser533fs
NP_001394836.1:p.Ser533fs
NP_001394837.1:p.Ser533fs
NP_001394838.1:p.Ser533fs
NP_001394839.1:p.Ser533fs
NP_001394844.1:p.Ser532fs
NP_001394845.1:p.Ser532fs
NP_001394846.1:p.Ser532fs
NP_001394847.1:p.Ser532fs
NP_001394848.1:p.Ser562fs
NP_001394849.1:p.Ser515fs
NP_001394850.1:p.Ser515fs
NP_001394851.1:p.Ser515fs
NP_001394852.1:p.Ser515fs
NP_001394853.1:p.Ser515fs
NP_001394854.1:p.Ser515fs
NP_001394855.1:p.Ser515fs
NP_001394856.1:p.Ser515fs
NP_001394857.1:p.Ser515fs
NP_001394858.1:p.Ser515fs
NP_001394859.1:p.Ser514fs
NP_001394860.1:p.Ser514fs
NP_001394861.1:p.Ser514fs
NP_001394862.1:p.Ser515fs
NP_001394863.1:p.Ser514fs
NP_001394864.1:p.Ser515fs
NP_001394865.1:p.Ser514fs
NP_001394866.1:p.Ser562fs
NP_001394867.1:p.Ser562fs
NP_001394868.1:p.Ser562fs
NP_001394869.1:p.Ser561fs
NP_001394870.1:p.Ser561fs
NP_001394871.1:p.Ser556fs
NP_001394872.1:p.Ser555fs
NP_001394873.1:p.Ser556fs
NP_001394874.1:p.Ser556fs
NP_001394875.1:p.Ser492fs
NP_001394876.1:p.Ser492fs
NP_001394877.1:p.Ser492fs
NP_001394878.1:p.Ser492fs
NP_001394879.1:p.Ser492fs
NP_001394880.1:p.Ser492fs
NP_001394881.1:p.Ser492fs
NP_001394882.1:p.Ser492fs
NP_001394883.1:p.Ser491fs
NP_001394884.1:p.Ser491fs
NP_001394885.1:p.Ser491fs
NP_001394886.1:p.Ser492fs
NP_001394887.1:p.Ser491fs
NP_001394888.1:p.Ser476fs
NP_001394889.1:p.Ser476fs
NP_001394891.1:p.Ser475fs
NP_001394892.1:p.Ser476fs
NP_001394893.1:p.Ser555fs
NP_001394894.1:p.Ser435fs
NP_001394895.1:p.Ser307fs
NP_001394896.1:p.Ser307fs
NP_009225.1:p.Ser603Phefs
NP_009225.1:p.Ser603fs
NP_009228.2:p.Ser556fs
NP_009231.2:p.Ser603fs
LRG_292t1:c.1806dup
LRG_292:g.124260dup
LRG_292p1:p.Ser603Phefs
NC_000017.10:g.41245740_41245741insA
NC_000017.10:g.41245742dup
NM_007294.3:c.1806dup
NR_027676.1:n.1942dup

Protein change:

S307fs

Links:

dbSNP: rs2154421251

NCBI 1000 Genomes Browser:

rs2154421251

Molecular consequence:

NM_001407571.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.1798dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.1798dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.1726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.1726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.1726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.1726dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.1729dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.1804dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1606dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1603dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1603dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1594dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1543dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1540dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1684dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1474dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1426dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1426dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1423dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1426dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1663dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1303dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.919dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1666dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.1807dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1017dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2692dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2692dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2122dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2692dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1020dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

LOC104429693 [Eucalyptus grandis]
LOC104429693 [Eucalyptus grandis]
Gene ID:104429693

Gene
RecName: Full=Serine/threonine-protein kinase D3; AltName: Full=Protein kinase C...
RecName: Full=Serine/threonine-protein kinase D3; AltName: Full=Protein kinase C nu type; AltName: Full=Protein kinase EPK2; AltName: Full=nPKC-nu
gi|12230239|sp|O94806.1|KPCD3_HUMAN

Protein
YALI1_B30181g [Yarrowia lipolytica]
YALI1_B30181g [Yarrowia lipolytica]
Gene ID:2906662

Gene
YALI1_E13223g [Yarrowia lipolytica]
YALI1_E13223g [Yarrowia lipolytica]
Gene ID:2912600

Gene
Chromosome neighbors for GEO Profiles (Select 34928407) (20)
GEO Profiles

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002222627	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 23, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002222627

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 23, 2020)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002222627.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant has not been reported in the literature in individuals with BRCA1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser603Phefs*5) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine