NM_007294.4(BRCA1):c.2105dup (p.Leu702fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jul 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000233676.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)]

NM_007294.4(BRCA1):c.2105dup (p.Leu702fs)

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.2105dup (p.Leu702fs)

HGVS:

NC_000017.11:g.43093427dup
NG_005905.2:g.124558dup
NM_001407571.1:c.1892dup
NM_001407581.1:c.2105dup
NM_001407582.1:c.2105dup
NM_001407583.1:c.2105dup
NM_001407585.1:c.2105dup
NM_001407587.1:c.2102dup
NM_001407590.1:c.2102dup
NM_001407591.1:c.2102dup
NM_001407593.1:c.2105dup
NM_001407594.1:c.2105dup
NM_001407596.1:c.2105dup
NM_001407597.1:c.2105dup
NM_001407598.1:c.2105dup
NM_001407602.1:c.2105dup
NM_001407603.1:c.2105dup
NM_001407605.1:c.2105dup
NM_001407610.1:c.2102dup
NM_001407611.1:c.2102dup
NM_001407612.1:c.2102dup
NM_001407613.1:c.2102dup
NM_001407614.1:c.2102dup
NM_001407615.1:c.2102dup
NM_001407616.1:c.2105dup
NM_001407617.1:c.2105dup
NM_001407618.1:c.2105dup
NM_001407619.1:c.2105dup
NM_001407620.1:c.2105dup
NM_001407621.1:c.2105dup
NM_001407622.1:c.2105dup
NM_001407623.1:c.2105dup
NM_001407624.1:c.2105dup
NM_001407625.1:c.2105dup
NM_001407626.1:c.2105dup
NM_001407627.1:c.2102dup
NM_001407628.1:c.2102dup
NM_001407629.1:c.2102dup
NM_001407630.1:c.2102dup
NM_001407631.1:c.2102dup
NM_001407632.1:c.2102dup
NM_001407633.1:c.2102dup
NM_001407634.1:c.2102dup
NM_001407635.1:c.2102dup
NM_001407636.1:c.2102dup
NM_001407637.1:c.2102dup
NM_001407638.1:c.2102dup
NM_001407639.1:c.2105dup
NM_001407640.1:c.2105dup
NM_001407641.1:c.2105dup
NM_001407642.1:c.2105dup
NM_001407644.1:c.2102dup
NM_001407645.1:c.2102dup
NM_001407646.1:c.2096dup
NM_001407647.1:c.2096dup
NM_001407648.1:c.1982dup
NM_001407649.1:c.1979dup
NM_001407652.1:c.2105dup
NM_001407653.1:c.2027dup
NM_001407654.1:c.2027dup
NM_001407655.1:c.2027dup
NM_001407656.1:c.2027dup
NM_001407657.1:c.2027dup
NM_001407658.1:c.2027dup
NM_001407659.1:c.2024dup
NM_001407660.1:c.2024dup
NM_001407661.1:c.2024dup
NM_001407662.1:c.2024dup
NM_001407663.1:c.2027dup
NM_001407664.1:c.1982dup
NM_001407665.1:c.1982dup
NM_001407666.1:c.1982dup
NM_001407667.1:c.1982dup
NM_001407668.1:c.1982dup
NM_001407669.1:c.1982dup
NM_001407670.1:c.1979dup
NM_001407671.1:c.1979dup
NM_001407672.1:c.1979dup
NM_001407673.1:c.1979dup
NM_001407674.1:c.1982dup
NM_001407675.1:c.1982dup
NM_001407676.1:c.1982dup
NM_001407677.1:c.1982dup
NM_001407678.1:c.1982dup
NM_001407679.1:c.1982dup
NM_001407680.1:c.1982dup
NM_001407681.1:c.1982dup
NM_001407682.1:c.1982dup
NM_001407683.1:c.1982dup
NM_001407684.1:c.2105dup
NM_001407685.1:c.1979dup
NM_001407686.1:c.1979dup
NM_001407687.1:c.1979dup
NM_001407688.1:c.1979dup
NM_001407689.1:c.1979dup
NM_001407690.1:c.1979dup
NM_001407691.1:c.1979dup
NM_001407692.1:c.1964dup
NM_001407694.1:c.1964dup
NM_001407695.1:c.1964dup
NM_001407696.1:c.1964dup
NM_001407697.1:c.1964dup
NM_001407698.1:c.1964dup
NM_001407724.1:c.1964dup
NM_001407725.1:c.1964dup
NM_001407726.1:c.1964dup
NM_001407727.1:c.1964dup
NM_001407728.1:c.1964dup
NM_001407729.1:c.1964dup
NM_001407730.1:c.1964dup
NM_001407731.1:c.1964dup
NM_001407732.1:c.1964dup
NM_001407733.1:c.1964dup
NM_001407734.1:c.1964dup
NM_001407735.1:c.1964dup
NM_001407736.1:c.1964dup
NM_001407737.1:c.1964dup
NM_001407738.1:c.1964dup
NM_001407739.1:c.1964dup
NM_001407740.1:c.1961dup
NM_001407741.1:c.1961dup
NM_001407742.1:c.1961dup
NM_001407743.1:c.1961dup
NM_001407744.1:c.1961dup
NM_001407745.1:c.1961dup
NM_001407746.1:c.1961dup
NM_001407747.1:c.1961dup
NM_001407748.1:c.1961dup
NM_001407749.1:c.1961dup
NM_001407750.1:c.1964dup
NM_001407751.1:c.1964dup
NM_001407752.1:c.1964dup
NM_001407838.1:c.1961dup
NM_001407839.1:c.1961dup
NM_001407841.1:c.1961dup
NM_001407842.1:c.1961dup
NM_001407843.1:c.1961dup
NM_001407844.1:c.1961dup
NM_001407845.1:c.1961dup
NM_001407846.1:c.1961dup
NM_001407847.1:c.1961dup
NM_001407848.1:c.1961dup
NM_001407849.1:c.1961dup
NM_001407850.1:c.1964dup
NM_001407851.1:c.1964dup
NM_001407852.1:c.1964dup
NM_001407853.1:c.1892dup
NM_001407854.1:c.2105dup
NM_001407858.1:c.2105dup
NM_001407859.1:c.2105dup
NM_001407860.1:c.2102dup
NM_001407861.1:c.2102dup
NM_001407862.1:c.1904dup
NM_001407863.1:c.1982dup
NM_001407874.1:c.1901dup
NM_001407875.1:c.1901dup
NM_001407879.1:c.1895dup
NM_001407881.1:c.1895dup
NM_001407882.1:c.1895dup
NM_001407884.1:c.1895dup
NM_001407885.1:c.1895dup
NM_001407886.1:c.1895dup
NM_001407887.1:c.1895dup
NM_001407889.1:c.1895dup
NM_001407894.1:c.1892dup
NM_001407895.1:c.1892dup
NM_001407896.1:c.1892dup
NM_001407897.1:c.1892dup
NM_001407898.1:c.1892dup
NM_001407899.1:c.1892dup
NM_001407900.1:c.1895dup
NM_001407902.1:c.1895dup
NM_001407904.1:c.1895dup
NM_001407906.1:c.1895dup
NM_001407907.1:c.1895dup
NM_001407908.1:c.1895dup
NM_001407909.1:c.1895dup
NM_001407910.1:c.1895dup
NM_001407915.1:c.1892dup
NM_001407916.1:c.1892dup
NM_001407917.1:c.1892dup
NM_001407918.1:c.1892dup
NM_001407919.1:c.1982dup
NM_001407920.1:c.1841dup
NM_001407921.1:c.1841dup
NM_001407922.1:c.1841dup
NM_001407923.1:c.1841dup
NM_001407924.1:c.1841dup
NM_001407925.1:c.1841dup
NM_001407926.1:c.1841dup
NM_001407927.1:c.1841dup
NM_001407928.1:c.1841dup
NM_001407929.1:c.1841dup
NM_001407930.1:c.1838dup
NM_001407931.1:c.1838dup
NM_001407932.1:c.1838dup
NM_001407933.1:c.1841dup
NM_001407934.1:c.1838dup
NM_001407935.1:c.1841dup
NM_001407936.1:c.1838dup
NM_001407937.1:c.1982dup
NM_001407938.1:c.1982dup
NM_001407939.1:c.1982dup
NM_001407940.1:c.1979dup
NM_001407941.1:c.1979dup
NM_001407942.1:c.1964dup
NM_001407943.1:c.1961dup
NM_001407944.1:c.1964dup
NM_001407945.1:c.1964dup
NM_001407946.1:c.1772dup
NM_001407947.1:c.1772dup
NM_001407948.1:c.1772dup
NM_001407949.1:c.1772dup
NM_001407950.1:c.1772dup
NM_001407951.1:c.1772dup
NM_001407952.1:c.1772dup
NM_001407953.1:c.1772dup
NM_001407954.1:c.1769dup
NM_001407955.1:c.1769dup
NM_001407956.1:c.1769dup
NM_001407957.1:c.1772dup
NM_001407958.1:c.1769dup
NM_001407959.1:c.1724dup
NM_001407960.1:c.1724dup
NM_001407962.1:c.1721dup
NM_001407963.1:c.1724dup
NM_001407964.1:c.1961dup
NM_001407965.1:c.1601dup
NM_001407966.1:c.1217dup
NM_001407967.1:c.1217dup
NM_001407968.1:c.788-1287dup
NM_001407969.1:c.788-1287dup
NM_001407970.1:c.787+1318dup
NM_001407971.1:c.787+1318dup
NM_001407972.1:c.784+1318dup
NM_001407973.1:c.787+1318dup
NM_001407974.1:c.787+1318dup
NM_001407975.1:c.787+1318dup
NM_001407976.1:c.787+1318dup
NM_001407977.1:c.787+1318dup
NM_001407978.1:c.787+1318dup
NM_001407979.1:c.787+1318dup
NM_001407980.1:c.787+1318dup
NM_001407981.1:c.787+1318dup
NM_001407982.1:c.787+1318dup
NM_001407983.1:c.787+1318dup
NM_001407984.1:c.784+1318dup
NM_001407985.1:c.784+1318dup
NM_001407986.1:c.784+1318dup
NM_001407990.1:c.787+1318dup
NM_001407991.1:c.784+1318dup
NM_001407992.1:c.784+1318dup
NM_001407993.1:c.787+1318dup
NM_001408392.1:c.784+1318dup
NM_001408396.1:c.784+1318dup
NM_001408397.1:c.784+1318dup
NM_001408398.1:c.784+1318dup
NM_001408399.1:c.784+1318dup
NM_001408400.1:c.784+1318dup
NM_001408401.1:c.784+1318dup
NM_001408402.1:c.784+1318dup
NM_001408403.1:c.787+1318dup
NM_001408404.1:c.787+1318dup
NM_001408406.1:c.790+1315dup
NM_001408407.1:c.784+1318dup
NM_001408408.1:c.778+1318dup
NM_001408409.1:c.709+1318dup
NM_001408410.1:c.646+1318dup
NM_001408411.1:c.709+1318dup
NM_001408412.1:c.709+1318dup
NM_001408413.1:c.706+1318dup
NM_001408414.1:c.709+1318dup
NM_001408415.1:c.709+1318dup
NM_001408416.1:c.706+1318dup
NM_001408418.1:c.671-2394dup
NM_001408419.1:c.671-2394dup
NM_001408420.1:c.671-2394dup
NM_001408421.1:c.668-2394dup
NM_001408422.1:c.671-2394dup
NM_001408423.1:c.671-2394dup
NM_001408424.1:c.668-2394dup
NM_001408425.1:c.664+1318dup
NM_001408426.1:c.664+1318dup
NM_001408427.1:c.664+1318dup
NM_001408428.1:c.664+1318dup
NM_001408429.1:c.664+1318dup
NM_001408430.1:c.664+1318dup
NM_001408431.1:c.668-2394dup
NM_001408432.1:c.661+1318dup
NM_001408433.1:c.661+1318dup
NM_001408434.1:c.661+1318dup
NM_001408435.1:c.661+1318dup
NM_001408436.1:c.664+1318dup
NM_001408437.1:c.664+1318dup
NM_001408438.1:c.664+1318dup
NM_001408439.1:c.664+1318dup
NM_001408440.1:c.664+1318dup
NM_001408441.1:c.664+1318dup
NM_001408442.1:c.664+1318dup
NM_001408443.1:c.664+1318dup
NM_001408444.1:c.664+1318dup
NM_001408445.1:c.661+1318dup
NM_001408446.1:c.661+1318dup
NM_001408447.1:c.661+1318dup
NM_001408448.1:c.661+1318dup
NM_001408450.1:c.661+1318dup
NM_001408451.1:c.652+1318dup
NM_001408452.1:c.646+1318dup
NM_001408453.1:c.646+1318dup
NM_001408454.1:c.646+1318dup
NM_001408455.1:c.646+1318dup
NM_001408456.1:c.646+1318dup
NM_001408457.1:c.646+1318dup
NM_001408458.1:c.646+1318dup
NM_001408459.1:c.646+1318dup
NM_001408460.1:c.646+1318dup
NM_001408461.1:c.646+1318dup
NM_001408462.1:c.643+1318dup
NM_001408463.1:c.643+1318dup
NM_001408464.1:c.643+1318dup
NM_001408465.1:c.643+1318dup
NM_001408466.1:c.646+1318dup
NM_001408467.1:c.646+1318dup
NM_001408468.1:c.643+1318dup
NM_001408469.1:c.646+1318dup
NM_001408470.1:c.643+1318dup
NM_001408472.1:c.787+1318dup
NM_001408473.1:c.784+1318dup
NM_001408474.1:c.586+1318dup
NM_001408475.1:c.583+1318dup
NM_001408476.1:c.586+1318dup
NM_001408478.1:c.577+1318dup
NM_001408479.1:c.577+1318dup
NM_001408480.1:c.577+1318dup
NM_001408481.1:c.577+1318dup
NM_001408482.1:c.577+1318dup
NM_001408483.1:c.577+1318dup
NM_001408484.1:c.577+1318dup
NM_001408485.1:c.577+1318dup
NM_001408489.1:c.577+1318dup
NM_001408490.1:c.574+1318dup
NM_001408491.1:c.574+1318dup
NM_001408492.1:c.577+1318dup
NM_001408493.1:c.574+1318dup
NM_001408494.1:c.548-2394dup
NM_001408495.1:c.545-2394dup
NM_001408496.1:c.523+1318dup
NM_001408497.1:c.523+1318dup
NM_001408498.1:c.523+1318dup
NM_001408499.1:c.523+1318dup
NM_001408500.1:c.523+1318dup
NM_001408501.1:c.523+1318dup
NM_001408502.1:c.454+1318dup
NM_001408503.1:c.520+1318dup
NM_001408504.1:c.520+1318dup
NM_001408505.1:c.520+1318dup
NM_001408506.1:c.461-2394dup
NM_001408507.1:c.461-2394dup
NM_001408508.1:c.451+1318dup
NM_001408509.1:c.451+1318dup
NM_001408510.1:c.406+1318dup
NM_001408511.1:c.404-2394dup
NM_001408512.1:c.283+1318dup
NM_001408513.1:c.577+1318dup
NM_001408514.1:c.577+1318dup
NM_007294.4:c.2105dupMANE SELECT
NM_007297.4:c.1964dup
NM_007298.4:c.787+1318dup
NM_007299.4:c.787+1318dup
NM_007300.4:c.2105dup
NP_001394500.1:p.Leu631fs
NP_001394510.1:p.Leu702fs
NP_001394511.1:p.Leu702fs
NP_001394512.1:p.Leu702fs
NP_001394514.1:p.Leu702fs
NP_001394516.1:p.Leu701fs
NP_001394519.1:p.Leu701fs
NP_001394520.1:p.Leu701fs
NP_001394522.1:p.Leu702fs
NP_001394523.1:p.Leu702fs
NP_001394525.1:p.Leu702fs
NP_001394526.1:p.Leu702fs
NP_001394527.1:p.Leu702fs
NP_001394531.1:p.Leu702fs
NP_001394532.1:p.Leu702fs
NP_001394534.1:p.Leu702fs
NP_001394539.1:p.Leu701fs
NP_001394540.1:p.Leu701fs
NP_001394541.1:p.Leu701fs
NP_001394542.1:p.Leu701fs
NP_001394543.1:p.Leu701fs
NP_001394544.1:p.Leu701fs
NP_001394545.1:p.Leu702fs
NP_001394546.1:p.Leu702fs
NP_001394547.1:p.Leu702fs
NP_001394548.1:p.Leu702fs
NP_001394549.1:p.Leu702fs
NP_001394550.1:p.Leu702fs
NP_001394551.1:p.Leu702fs
NP_001394552.1:p.Leu702fs
NP_001394553.1:p.Leu702fs
NP_001394554.1:p.Leu702fs
NP_001394555.1:p.Leu702fs
NP_001394556.1:p.Leu701fs
NP_001394557.1:p.Leu701fs
NP_001394558.1:p.Leu701fs
NP_001394559.1:p.Leu701fs
NP_001394560.1:p.Leu701fs
NP_001394561.1:p.Leu701fs
NP_001394562.1:p.Leu701fs
NP_001394563.1:p.Leu701fs
NP_001394564.1:p.Leu701fs
NP_001394565.1:p.Leu701fs
NP_001394566.1:p.Leu701fs
NP_001394567.1:p.Leu701fs
NP_001394568.1:p.Leu702fs
NP_001394569.1:p.Leu702fs
NP_001394570.1:p.Leu702fs
NP_001394571.1:p.Leu702fs
NP_001394573.1:p.Leu701fs
NP_001394574.1:p.Leu701fs
NP_001394575.1:p.Leu699fs
NP_001394576.1:p.Leu699fs
NP_001394577.1:p.Leu661fs
NP_001394578.1:p.Leu660fs
NP_001394581.1:p.Leu702fs
NP_001394582.1:p.Leu676fs
NP_001394583.1:p.Leu676fs
NP_001394584.1:p.Leu676fs
NP_001394585.1:p.Leu676fs
NP_001394586.1:p.Leu676fs
NP_001394587.1:p.Leu676fs
NP_001394588.1:p.Leu675fs
NP_001394589.1:p.Leu675fs
NP_001394590.1:p.Leu675fs
NP_001394591.1:p.Leu675fs
NP_001394592.1:p.Leu676fs
NP_001394593.1:p.Leu661fs
NP_001394594.1:p.Leu661fs
NP_001394595.1:p.Leu661fs
NP_001394596.1:p.Leu661fs
NP_001394597.1:p.Leu661fs
NP_001394598.1:p.Leu661fs
NP_001394599.1:p.Leu660fs
NP_001394600.1:p.Leu660fs
NP_001394601.1:p.Leu660fs
NP_001394602.1:p.Leu660fs
NP_001394603.1:p.Leu661fs
NP_001394604.1:p.Leu661fs
NP_001394605.1:p.Leu661fs
NP_001394606.1:p.Leu661fs
NP_001394607.1:p.Leu661fs
NP_001394608.1:p.Leu661fs
NP_001394609.1:p.Leu661fs
NP_001394610.1:p.Leu661fs
NP_001394611.1:p.Leu661fs
NP_001394612.1:p.Leu661fs
NP_001394613.1:p.Leu702fs
NP_001394614.1:p.Leu660fs
NP_001394615.1:p.Leu660fs
NP_001394616.1:p.Leu660fs
NP_001394617.1:p.Leu660fs
NP_001394618.1:p.Leu660fs
NP_001394619.1:p.Leu660fs
NP_001394620.1:p.Leu660fs
NP_001394621.1:p.Leu655fs
NP_001394623.1:p.Leu655fs
NP_001394624.1:p.Leu655fs
NP_001394625.1:p.Leu655fs
NP_001394626.1:p.Leu655fs
NP_001394627.1:p.Leu655fs
NP_001394653.1:p.Leu655fs
NP_001394654.1:p.Leu655fs
NP_001394655.1:p.Leu655fs
NP_001394656.1:p.Leu655fs
NP_001394657.1:p.Leu655fs
NP_001394658.1:p.Leu655fs
NP_001394659.1:p.Leu655fs
NP_001394660.1:p.Leu655fs
NP_001394661.1:p.Leu655fs
NP_001394662.1:p.Leu655fs
NP_001394663.1:p.Leu655fs
NP_001394664.1:p.Leu655fs
NP_001394665.1:p.Leu655fs
NP_001394666.1:p.Leu655fs
NP_001394667.1:p.Leu655fs
NP_001394668.1:p.Leu655fs
NP_001394669.1:p.Leu654fs
NP_001394670.1:p.Leu654fs
NP_001394671.1:p.Leu654fs
NP_001394672.1:p.Leu654fs
NP_001394673.1:p.Leu654fs
NP_001394674.1:p.Leu654fs
NP_001394675.1:p.Leu654fs
NP_001394676.1:p.Leu654fs
NP_001394677.1:p.Leu654fs
NP_001394678.1:p.Leu654fs
NP_001394679.1:p.Leu655fs
NP_001394680.1:p.Leu655fs
NP_001394681.1:p.Leu655fs
NP_001394767.1:p.Leu654fs
NP_001394768.1:p.Leu654fs
NP_001394770.1:p.Leu654fs
NP_001394771.1:p.Leu654fs
NP_001394772.1:p.Leu654fs
NP_001394773.1:p.Leu654fs
NP_001394774.1:p.Leu654fs
NP_001394775.1:p.Leu654fs
NP_001394776.1:p.Leu654fs
NP_001394777.1:p.Leu654fs
NP_001394778.1:p.Leu654fs
NP_001394779.1:p.Leu655fs
NP_001394780.1:p.Leu655fs
NP_001394781.1:p.Leu655fs
NP_001394782.1:p.Leu631fs
NP_001394783.1:p.Leu702fs
NP_001394787.1:p.Leu702fs
NP_001394788.1:p.Leu702fs
NP_001394789.1:p.Leu701fs
NP_001394790.1:p.Leu701fs
NP_001394791.1:p.Leu635fs
NP_001394792.1:p.Leu661fs
NP_001394803.1:p.Leu634fs
NP_001394804.1:p.Leu634fs
NP_001394808.1:p.Leu632fs
NP_001394810.1:p.Leu632fs
NP_001394811.1:p.Leu632fs
NP_001394813.1:p.Leu632fs
NP_001394814.1:p.Leu632fs
NP_001394815.1:p.Leu632fs
NP_001394816.1:p.Leu632fs
NP_001394818.1:p.Leu632fs
NP_001394823.1:p.Leu631fs
NP_001394824.1:p.Leu631fs
NP_001394825.1:p.Leu631fs
NP_001394826.1:p.Leu631fs
NP_001394827.1:p.Leu631fs
NP_001394828.1:p.Leu631fs
NP_001394829.1:p.Leu632fs
NP_001394831.1:p.Leu632fs
NP_001394833.1:p.Leu632fs
NP_001394835.1:p.Leu632fs
NP_001394836.1:p.Leu632fs
NP_001394837.1:p.Leu632fs
NP_001394838.1:p.Leu632fs
NP_001394839.1:p.Leu632fs
NP_001394844.1:p.Leu631fs
NP_001394845.1:p.Leu631fs
NP_001394846.1:p.Leu631fs
NP_001394847.1:p.Leu631fs
NP_001394848.1:p.Leu661fs
NP_001394849.1:p.Leu614fs
NP_001394850.1:p.Leu614fs
NP_001394851.1:p.Leu614fs
NP_001394852.1:p.Leu614fs
NP_001394853.1:p.Leu614fs
NP_001394854.1:p.Leu614fs
NP_001394855.1:p.Leu614fs
NP_001394856.1:p.Leu614fs
NP_001394857.1:p.Leu614fs
NP_001394858.1:p.Leu614fs
NP_001394859.1:p.Leu613fs
NP_001394860.1:p.Leu613fs
NP_001394861.1:p.Leu613fs
NP_001394862.1:p.Leu614fs
NP_001394863.1:p.Leu613fs
NP_001394864.1:p.Leu614fs
NP_001394865.1:p.Leu613fs
NP_001394866.1:p.Leu661fs
NP_001394867.1:p.Leu661fs
NP_001394868.1:p.Leu661fs
NP_001394869.1:p.Leu660fs
NP_001394870.1:p.Leu660fs
NP_001394871.1:p.Leu655fs
NP_001394872.1:p.Leu654fs
NP_001394873.1:p.Leu655fs
NP_001394874.1:p.Leu655fs
NP_001394875.1:p.Leu591fs
NP_001394876.1:p.Leu591fs
NP_001394877.1:p.Leu591fs
NP_001394878.1:p.Leu591fs
NP_001394879.1:p.Leu591fs
NP_001394880.1:p.Leu591fs
NP_001394881.1:p.Leu591fs
NP_001394882.1:p.Leu591fs
NP_001394883.1:p.Leu590fs
NP_001394884.1:p.Leu590fs
NP_001394885.1:p.Leu590fs
NP_001394886.1:p.Leu591fs
NP_001394887.1:p.Leu590fs
NP_001394888.1:p.Leu575fs
NP_001394889.1:p.Leu575fs
NP_001394891.1:p.Leu574fs
NP_001394892.1:p.Leu575fs
NP_001394893.1:p.Leu654fs
NP_001394894.1:p.Leu534fs
NP_001394895.1:p.Leu406fs
NP_001394896.1:p.Leu406fs
NP_009225.1:p.Leu702Phefs
NP_009225.1:p.Leu702fs
NP_009228.2:p.Leu655fs
NP_009231.2:p.Leu702fs
LRG_292t1:c.2104dup
LRG_292:g.124558dup
LRG_292p1:p.Leu702Phefs
NC_000017.10:g.41245444dup
NM_007294.3:c.2104dup
NM_007294.3:c.2105dupT
NR_027676.1:n.2240dup
U14680.1:n.2224_2225insT

Nucleotide change:

2224insT

Protein change:

L406fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2224&base_change=ins T; dbSNP: rs80357880

NCBI 1000 Genomes Browser:

rs80357880

Molecular consequence:

NM_001407571.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2096dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2096dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2024dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2024dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2024dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2024dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2027dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2102dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.1904dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.1901dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.1901dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.1895dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.1892dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.1841dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.1838dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.1982dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.1979dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.1769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.1769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.1769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.1772dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.1769dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.1724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.1724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.1721dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.1724dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.1961dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.1601dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1217dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1217dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2105dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-1287dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-1287dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1315dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2394dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1318dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1318dup - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000289756	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 10, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20104584, 28492532
SCV000587184	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV001426972	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Jul 13, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000289756

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 10, 2023)

germline

clinical testing

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

SCV000587184

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Pathogenic
(Jan 31, 2014)

germline

research

SCV001426972

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Jul 13, 2020)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000289756.8

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

Description

This sequence change creates a premature translational stop signal (p.Leu702Phefs*10) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 37445). For these reasons, this variant has been classified as Pathogenic.

#	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 Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587184.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001426972.1

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

Description

Variant summary: BRCA1 c.2105dupT (p.Leu702PhefsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251182 control chromosomes. c.2105dupT has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Rebbeck_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

#	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: Apr 20, 2024

ClinVar

Relating variation to medicine