NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 2016
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:: RCV000590724.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del)]

NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2155_2163del (p.Lys719_Phe721del)

HGVS:

NC_000017.11:g.43093370_43093378del
NG_005905.2:g.124608_124616del
NM_001407571.1:c.1942_1950del
NM_001407581.1:c.2155_2163del
NM_001407582.1:c.2155_2163del
NM_001407583.1:c.2155_2163del
NM_001407585.1:c.2155_2163del
NM_001407587.1:c.2152_2160del
NM_001407590.1:c.2152_2160del
NM_001407591.1:c.2152_2160del
NM_001407593.1:c.2155_2163del
NM_001407594.1:c.2155_2163del
NM_001407596.1:c.2155_2163del
NM_001407597.1:c.2155_2163del
NM_001407598.1:c.2155_2163del
NM_001407602.1:c.2155_2163del
NM_001407603.1:c.2155_2163del
NM_001407605.1:c.2155_2163del
NM_001407610.1:c.2152_2160del
NM_001407611.1:c.2152_2160del
NM_001407612.1:c.2152_2160del
NM_001407613.1:c.2152_2160del
NM_001407614.1:c.2152_2160del
NM_001407615.1:c.2152_2160del
NM_001407616.1:c.2155_2163del
NM_001407617.1:c.2155_2163del
NM_001407618.1:c.2155_2163del
NM_001407619.1:c.2155_2163del
NM_001407620.1:c.2155_2163del
NM_001407621.1:c.2155_2163del
NM_001407622.1:c.2155_2163del
NM_001407623.1:c.2155_2163del
NM_001407624.1:c.2155_2163del
NM_001407625.1:c.2155_2163del
NM_001407626.1:c.2155_2163del
NM_001407627.1:c.2152_2160del
NM_001407628.1:c.2152_2160del
NM_001407629.1:c.2152_2160del
NM_001407630.1:c.2152_2160del
NM_001407631.1:c.2152_2160del
NM_001407632.1:c.2152_2160del
NM_001407633.1:c.2152_2160del
NM_001407634.1:c.2152_2160del
NM_001407635.1:c.2152_2160del
NM_001407636.1:c.2152_2160del
NM_001407637.1:c.2152_2160del
NM_001407638.1:c.2152_2160del
NM_001407639.1:c.2155_2163del
NM_001407640.1:c.2155_2163del
NM_001407641.1:c.2155_2163del
NM_001407642.1:c.2155_2163del
NM_001407644.1:c.2152_2160del
NM_001407645.1:c.2152_2160del
NM_001407646.1:c.2146_2154del
NM_001407647.1:c.2146_2154del
NM_001407648.1:c.2032_2040del
NM_001407649.1:c.2029_2037del
NM_001407652.1:c.2155_2163del
NM_001407653.1:c.2077_2085del
NM_001407654.1:c.2077_2085del
NM_001407655.1:c.2077_2085del
NM_001407656.1:c.2077_2085del
NM_001407657.1:c.2077_2085del
NM_001407658.1:c.2077_2085del
NM_001407659.1:c.2074_2082del
NM_001407660.1:c.2074_2082del
NM_001407661.1:c.2074_2082del
NM_001407662.1:c.2074_2082del
NM_001407663.1:c.2077_2085del
NM_001407664.1:c.2032_2040del
NM_001407665.1:c.2032_2040del
NM_001407666.1:c.2032_2040del
NM_001407667.1:c.2032_2040del
NM_001407668.1:c.2032_2040del
NM_001407669.1:c.2032_2040del
NM_001407670.1:c.2029_2037del
NM_001407671.1:c.2029_2037del
NM_001407672.1:c.2029_2037del
NM_001407673.1:c.2029_2037del
NM_001407674.1:c.2032_2040del
NM_001407675.1:c.2032_2040del
NM_001407676.1:c.2032_2040del
NM_001407677.1:c.2032_2040del
NM_001407678.1:c.2032_2040del
NM_001407679.1:c.2032_2040del
NM_001407680.1:c.2032_2040del
NM_001407681.1:c.2032_2040del
NM_001407682.1:c.2032_2040del
NM_001407683.1:c.2032_2040del
NM_001407684.1:c.2155_2163del
NM_001407685.1:c.2029_2037del
NM_001407686.1:c.2029_2037del
NM_001407687.1:c.2029_2037del
NM_001407688.1:c.2029_2037del
NM_001407689.1:c.2029_2037del
NM_001407690.1:c.2029_2037del
NM_001407691.1:c.2029_2037del
NM_001407692.1:c.2014_2022del
NM_001407694.1:c.2014_2022del
NM_001407695.1:c.2014_2022del
NM_001407696.1:c.2014_2022del
NM_001407697.1:c.2014_2022del
NM_001407698.1:c.2014_2022del
NM_001407724.1:c.2014_2022del
NM_001407725.1:c.2014_2022del
NM_001407726.1:c.2014_2022del
NM_001407727.1:c.2014_2022del
NM_001407728.1:c.2014_2022del
NM_001407729.1:c.2014_2022del
NM_001407730.1:c.2014_2022del
NM_001407731.1:c.2014_2022del
NM_001407732.1:c.2014_2022del
NM_001407733.1:c.2014_2022del
NM_001407734.1:c.2014_2022del
NM_001407735.1:c.2014_2022del
NM_001407736.1:c.2014_2022del
NM_001407737.1:c.2014_2022del
NM_001407738.1:c.2014_2022del
NM_001407739.1:c.2014_2022del
NM_001407740.1:c.2011_2019del
NM_001407741.1:c.2011_2019del
NM_001407742.1:c.2011_2019del
NM_001407743.1:c.2011_2019del
NM_001407744.1:c.2011_2019del
NM_001407745.1:c.2011_2019del
NM_001407746.1:c.2011_2019del
NM_001407747.1:c.2011_2019del
NM_001407748.1:c.2011_2019del
NM_001407749.1:c.2011_2019del
NM_001407750.1:c.2014_2022del
NM_001407751.1:c.2014_2022del
NM_001407752.1:c.2014_2022del
NM_001407838.1:c.2011_2019del
NM_001407839.1:c.2011_2019del
NM_001407841.1:c.2011_2019del
NM_001407842.1:c.2011_2019del
NM_001407843.1:c.2011_2019del
NM_001407844.1:c.2011_2019del
NM_001407845.1:c.2011_2019del
NM_001407846.1:c.2011_2019del
NM_001407847.1:c.2011_2019del
NM_001407848.1:c.2011_2019del
NM_001407849.1:c.2011_2019del
NM_001407850.1:c.2014_2022del
NM_001407851.1:c.2014_2022del
NM_001407852.1:c.2014_2022del
NM_001407853.1:c.1942_1950del
NM_001407854.1:c.2155_2163del
NM_001407858.1:c.2155_2163del
NM_001407859.1:c.2155_2163del
NM_001407860.1:c.2152_2160del
NM_001407861.1:c.2152_2160del
NM_001407862.1:c.1954_1962del
NM_001407863.1:c.2032_2040del
NM_001407874.1:c.1951_1959del
NM_001407875.1:c.1951_1959del
NM_001407879.1:c.1945_1953del
NM_001407881.1:c.1945_1953del
NM_001407882.1:c.1945_1953del
NM_001407884.1:c.1945_1953del
NM_001407885.1:c.1945_1953del
NM_001407886.1:c.1945_1953del
NM_001407887.1:c.1945_1953del
NM_001407889.1:c.1945_1953del
NM_001407894.1:c.1942_1950del
NM_001407895.1:c.1942_1950del
NM_001407896.1:c.1942_1950del
NM_001407897.1:c.1942_1950del
NM_001407898.1:c.1942_1950del
NM_001407899.1:c.1942_1950del
NM_001407900.1:c.1945_1953del
NM_001407902.1:c.1945_1953del
NM_001407904.1:c.1945_1953del
NM_001407906.1:c.1945_1953del
NM_001407907.1:c.1945_1953del
NM_001407908.1:c.1945_1953del
NM_001407909.1:c.1945_1953del
NM_001407910.1:c.1945_1953del
NM_001407915.1:c.1942_1950del
NM_001407916.1:c.1942_1950del
NM_001407917.1:c.1942_1950del
NM_001407918.1:c.1942_1950del
NM_001407919.1:c.2032_2040del
NM_001407920.1:c.1891_1899del
NM_001407921.1:c.1891_1899del
NM_001407922.1:c.1891_1899del
NM_001407923.1:c.1891_1899del
NM_001407924.1:c.1891_1899del
NM_001407925.1:c.1891_1899del
NM_001407926.1:c.1891_1899del
NM_001407927.1:c.1891_1899del
NM_001407928.1:c.1891_1899del
NM_001407929.1:c.1891_1899del
NM_001407930.1:c.1888_1896del
NM_001407931.1:c.1888_1896del
NM_001407932.1:c.1888_1896del
NM_001407933.1:c.1891_1899del
NM_001407934.1:c.1888_1896del
NM_001407935.1:c.1891_1899del
NM_001407936.1:c.1888_1896del
NM_001407937.1:c.2032_2040del
NM_001407938.1:c.2032_2040del
NM_001407939.1:c.2032_2040del
NM_001407940.1:c.2029_2037del
NM_001407941.1:c.2029_2037del
NM_001407942.1:c.2014_2022del
NM_001407943.1:c.2011_2019del
NM_001407944.1:c.2014_2022del
NM_001407945.1:c.2014_2022del
NM_001407946.1:c.1822_1830del
NM_001407947.1:c.1822_1830del
NM_001407948.1:c.1822_1830del
NM_001407949.1:c.1822_1830del
NM_001407950.1:c.1822_1830del
NM_001407951.1:c.1822_1830del
NM_001407952.1:c.1822_1830del
NM_001407953.1:c.1822_1830del
NM_001407954.1:c.1819_1827del
NM_001407955.1:c.1819_1827del
NM_001407956.1:c.1819_1827del
NM_001407957.1:c.1822_1830del
NM_001407958.1:c.1819_1827del
NM_001407959.1:c.1774_1782del
NM_001407960.1:c.1774_1782del
NM_001407962.1:c.1771_1779del
NM_001407963.1:c.1774_1782del
NM_001407964.1:c.2011_2019del
NM_001407965.1:c.1651_1659del
NM_001407966.1:c.1267_1275del
NM_001407967.1:c.1267_1275del
NM_001407968.1:c.788-1237_788-1229del
NM_001407969.1:c.788-1237_788-1229del
NM_001407970.1:c.787+1368_787+1376del
NM_001407971.1:c.787+1368_787+1376del
NM_001407972.1:c.784+1368_784+1376del
NM_001407973.1:c.787+1368_787+1376del
NM_001407974.1:c.787+1368_787+1376del
NM_001407975.1:c.787+1368_787+1376del
NM_001407976.1:c.787+1368_787+1376del
NM_001407977.1:c.787+1368_787+1376del
NM_001407978.1:c.787+1368_787+1376del
NM_001407979.1:c.787+1368_787+1376del
NM_001407980.1:c.787+1368_787+1376del
NM_001407981.1:c.787+1368_787+1376del
NM_001407982.1:c.787+1368_787+1376del
NM_001407983.1:c.787+1368_787+1376del
NM_001407984.1:c.784+1368_784+1376del
NM_001407985.1:c.784+1368_784+1376del
NM_001407986.1:c.784+1368_784+1376del
NM_001407990.1:c.787+1368_787+1376del
NM_001407991.1:c.784+1368_784+1376del
NM_001407992.1:c.784+1368_784+1376del
NM_001407993.1:c.787+1368_787+1376del
NM_001408392.1:c.784+1368_784+1376del
NM_001408396.1:c.784+1368_784+1376del
NM_001408397.1:c.784+1368_784+1376del
NM_001408398.1:c.784+1368_784+1376del
NM_001408399.1:c.784+1368_784+1376del
NM_001408400.1:c.784+1368_784+1376del
NM_001408401.1:c.784+1368_784+1376del
NM_001408402.1:c.784+1368_784+1376del
NM_001408403.1:c.787+1368_787+1376del
NM_001408404.1:c.787+1368_787+1376del
NM_001408406.1:c.790+1365_790+1373del
NM_001408407.1:c.784+1368_784+1376del
NM_001408408.1:c.778+1368_778+1376del
NM_001408409.1:c.709+1368_709+1376del
NM_001408410.1:c.646+1368_646+1376del
NM_001408411.1:c.709+1368_709+1376del
NM_001408412.1:c.709+1368_709+1376del
NM_001408413.1:c.706+1368_706+1376del
NM_001408414.1:c.709+1368_709+1376del
NM_001408415.1:c.709+1368_709+1376del
NM_001408416.1:c.706+1368_706+1376del
NM_001408418.1:c.671-2344_671-2336del
NM_001408419.1:c.671-2344_671-2336del
NM_001408420.1:c.671-2344_671-2336del
NM_001408421.1:c.668-2344_668-2336del
NM_001408422.1:c.671-2344_671-2336del
NM_001408423.1:c.671-2344_671-2336del
NM_001408424.1:c.668-2344_668-2336del
NM_001408425.1:c.664+1368_664+1376del
NM_001408426.1:c.664+1368_664+1376del
NM_001408427.1:c.664+1368_664+1376del
NM_001408428.1:c.664+1368_664+1376del
NM_001408429.1:c.664+1368_664+1376del
NM_001408430.1:c.664+1368_664+1376del
NM_001408431.1:c.668-2344_668-2336del
NM_001408432.1:c.661+1368_661+1376del
NM_001408433.1:c.661+1368_661+1376del
NM_001408434.1:c.661+1368_661+1376del
NM_001408435.1:c.661+1368_661+1376del
NM_001408436.1:c.664+1368_664+1376del
NM_001408437.1:c.664+1368_664+1376del
NM_001408438.1:c.664+1368_664+1376del
NM_001408439.1:c.664+1368_664+1376del
NM_001408440.1:c.664+1368_664+1376del
NM_001408441.1:c.664+1368_664+1376del
NM_001408442.1:c.664+1368_664+1376del
NM_001408443.1:c.664+1368_664+1376del
NM_001408444.1:c.664+1368_664+1376del
NM_001408445.1:c.661+1368_661+1376del
NM_001408446.1:c.661+1368_661+1376del
NM_001408447.1:c.661+1368_661+1376del
NM_001408448.1:c.661+1368_661+1376del
NM_001408450.1:c.661+1368_661+1376del
NM_001408451.1:c.652+1368_652+1376del
NM_001408452.1:c.646+1368_646+1376del
NM_001408453.1:c.646+1368_646+1376del
NM_001408454.1:c.646+1368_646+1376del
NM_001408455.1:c.646+1368_646+1376del
NM_001408456.1:c.646+1368_646+1376del
NM_001408457.1:c.646+1368_646+1376del
NM_001408458.1:c.646+1368_646+1376del
NM_001408459.1:c.646+1368_646+1376del
NM_001408460.1:c.646+1368_646+1376del
NM_001408461.1:c.646+1368_646+1376del
NM_001408462.1:c.643+1368_643+1376del
NM_001408463.1:c.643+1368_643+1376del
NM_001408464.1:c.643+1368_643+1376del
NM_001408465.1:c.643+1368_643+1376del
NM_001408466.1:c.646+1368_646+1376del
NM_001408467.1:c.646+1368_646+1376del
NM_001408468.1:c.643+1368_643+1376del
NM_001408469.1:c.646+1368_646+1376del
NM_001408470.1:c.643+1368_643+1376del
NM_001408472.1:c.787+1368_787+1376del
NM_001408473.1:c.784+1368_784+1376del
NM_001408474.1:c.586+1368_586+1376del
NM_001408475.1:c.583+1368_583+1376del
NM_001408476.1:c.586+1368_586+1376del
NM_001408478.1:c.577+1368_577+1376del
NM_001408479.1:c.577+1368_577+1376del
NM_001408480.1:c.577+1368_577+1376del
NM_001408481.1:c.577+1368_577+1376del
NM_001408482.1:c.577+1368_577+1376del
NM_001408483.1:c.577+1368_577+1376del
NM_001408484.1:c.577+1368_577+1376del
NM_001408485.1:c.577+1368_577+1376del
NM_001408489.1:c.577+1368_577+1376del
NM_001408490.1:c.574+1368_574+1376del
NM_001408491.1:c.574+1368_574+1376del
NM_001408492.1:c.577+1368_577+1376del
NM_001408493.1:c.574+1368_574+1376del
NM_001408494.1:c.548-2344_548-2336del
NM_001408495.1:c.545-2344_545-2336del
NM_001408496.1:c.523+1368_523+1376del
NM_001408497.1:c.523+1368_523+1376del
NM_001408498.1:c.523+1368_523+1376del
NM_001408499.1:c.523+1368_523+1376del
NM_001408500.1:c.523+1368_523+1376del
NM_001408501.1:c.523+1368_523+1376del
NM_001408502.1:c.454+1368_454+1376del
NM_001408503.1:c.520+1368_520+1376del
NM_001408504.1:c.520+1368_520+1376del
NM_001408505.1:c.520+1368_520+1376del
NM_001408506.1:c.461-2344_461-2336del
NM_001408507.1:c.461-2344_461-2336del
NM_001408508.1:c.451+1368_451+1376del
NM_001408509.1:c.451+1368_451+1376del
NM_001408510.1:c.406+1368_406+1376del
NM_001408511.1:c.404-2344_404-2336del
NM_001408512.1:c.283+1368_283+1376del
NM_001408513.1:c.577+1368_577+1376del
NM_001408514.1:c.577+1368_577+1376del
NM_007294.4:c.2155_2163delMANE SELECT
NM_007297.4:c.2014_2022del
NM_007298.4:c.787+1368_787+1376del
NM_007299.4:c.787+1368_787+1376del
NM_007300.4:c.2155_2163del
NP_001394500.1:p.Lys648_Phe650del
NP_001394510.1:p.Lys719_Phe721del
NP_001394511.1:p.Lys719_Phe721del
NP_001394512.1:p.Lys719_Phe721del
NP_001394514.1:p.Lys719_Phe721del
NP_001394516.1:p.Lys718_Phe720del
NP_001394519.1:p.Lys718_Phe720del
NP_001394520.1:p.Lys718_Phe720del
NP_001394522.1:p.Lys719_Phe721del
NP_001394523.1:p.Lys719_Phe721del
NP_001394525.1:p.Lys719_Phe721del
NP_001394526.1:p.Lys719_Phe721del
NP_001394527.1:p.Lys719_Phe721del
NP_001394531.1:p.Lys719_Phe721del
NP_001394532.1:p.Lys719_Phe721del
NP_001394534.1:p.Lys719_Phe721del
NP_001394539.1:p.Lys718_Phe720del
NP_001394540.1:p.Lys718_Phe720del
NP_001394541.1:p.Lys718_Phe720del
NP_001394542.1:p.Lys718_Phe720del
NP_001394543.1:p.Lys718_Phe720del
NP_001394544.1:p.Lys718_Phe720del
NP_001394545.1:p.Lys719_Phe721del
NP_001394546.1:p.Lys719_Phe721del
NP_001394547.1:p.Lys719_Phe721del
NP_001394548.1:p.Lys719_Phe721del
NP_001394549.1:p.Lys719_Phe721del
NP_001394550.1:p.Lys719_Phe721del
NP_001394551.1:p.Lys719_Phe721del
NP_001394552.1:p.Lys719_Phe721del
NP_001394553.1:p.Lys719_Phe721del
NP_001394554.1:p.Lys719_Phe721del
NP_001394555.1:p.Lys719_Phe721del
NP_001394556.1:p.Lys718_Phe720del
NP_001394557.1:p.Lys718_Phe720del
NP_001394558.1:p.Lys718_Phe720del
NP_001394559.1:p.Lys718_Phe720del
NP_001394560.1:p.Lys718_Phe720del
NP_001394561.1:p.Lys718_Phe720del
NP_001394562.1:p.Lys718_Phe720del
NP_001394563.1:p.Lys718_Phe720del
NP_001394564.1:p.Lys718_Phe720del
NP_001394565.1:p.Lys718_Phe720del
NP_001394566.1:p.Lys718_Phe720del
NP_001394567.1:p.Lys718_Phe720del
NP_001394568.1:p.Lys719_Phe721del
NP_001394569.1:p.Lys719_Phe721del
NP_001394570.1:p.Lys719_Phe721del
NP_001394571.1:p.Lys719_Phe721del
NP_001394573.1:p.Lys718_Phe720del
NP_001394574.1:p.Lys718_Phe720del
NP_001394575.1:p.Lys716_Phe718del
NP_001394576.1:p.Lys716_Phe718del
NP_001394577.1:p.Lys678_Phe680del
NP_001394578.1:p.Lys677_Phe679del
NP_001394581.1:p.Lys719_Phe721del
NP_001394582.1:p.Lys693_Phe695del
NP_001394583.1:p.Lys693_Phe695del
NP_001394584.1:p.Lys693_Phe695del
NP_001394585.1:p.Lys693_Phe695del
NP_001394586.1:p.Lys693_Phe695del
NP_001394587.1:p.Lys693_Phe695del
NP_001394588.1:p.Lys692_Phe694del
NP_001394589.1:p.Lys692_Phe694del
NP_001394590.1:p.Lys692_Phe694del
NP_001394591.1:p.Lys692_Phe694del
NP_001394592.1:p.Lys693_Phe695del
NP_001394593.1:p.Lys678_Phe680del
NP_001394594.1:p.Lys678_Phe680del
NP_001394595.1:p.Lys678_Phe680del
NP_001394596.1:p.Lys678_Phe680del
NP_001394597.1:p.Lys678_Phe680del
NP_001394598.1:p.Lys678_Phe680del
NP_001394599.1:p.Lys677_Phe679del
NP_001394600.1:p.Lys677_Phe679del
NP_001394601.1:p.Lys677_Phe679del
NP_001394602.1:p.Lys677_Phe679del
NP_001394603.1:p.Lys678_Phe680del
NP_001394604.1:p.Lys678_Phe680del
NP_001394605.1:p.Lys678_Phe680del
NP_001394606.1:p.Lys678_Phe680del
NP_001394607.1:p.Lys678_Phe680del
NP_001394608.1:p.Lys678_Phe680del
NP_001394609.1:p.Lys678_Phe680del
NP_001394610.1:p.Lys678_Phe680del
NP_001394611.1:p.Lys678_Phe680del
NP_001394612.1:p.Lys678_Phe680del
NP_001394613.1:p.Lys719_Phe721del
NP_001394614.1:p.Lys677_Phe679del
NP_001394615.1:p.Lys677_Phe679del
NP_001394616.1:p.Lys677_Phe679del
NP_001394617.1:p.Lys677_Phe679del
NP_001394618.1:p.Lys677_Phe679del
NP_001394619.1:p.Lys677_Phe679del
NP_001394620.1:p.Lys677_Phe679del
NP_001394621.1:p.Lys672_Phe674del
NP_001394623.1:p.Lys672_Phe674del
NP_001394624.1:p.Lys672_Phe674del
NP_001394625.1:p.Lys672_Phe674del
NP_001394626.1:p.Lys672_Phe674del
NP_001394627.1:p.Lys672_Phe674del
NP_001394653.1:p.Lys672_Phe674del
NP_001394654.1:p.Lys672_Phe674del
NP_001394655.1:p.Lys672_Phe674del
NP_001394656.1:p.Lys672_Phe674del
NP_001394657.1:p.Lys672_Phe674del
NP_001394658.1:p.Lys672_Phe674del
NP_001394659.1:p.Lys672_Phe674del
NP_001394660.1:p.Lys672_Phe674del
NP_001394661.1:p.Lys672_Phe674del
NP_001394662.1:p.Lys672_Phe674del
NP_001394663.1:p.Lys672_Phe674del
NP_001394664.1:p.Lys672_Phe674del
NP_001394665.1:p.Lys672_Phe674del
NP_001394666.1:p.Lys672_Phe674del
NP_001394667.1:p.Lys672_Phe674del
NP_001394668.1:p.Lys672_Phe674del
NP_001394669.1:p.Lys671_Phe673del
NP_001394670.1:p.Lys671_Phe673del
NP_001394671.1:p.Lys671_Phe673del
NP_001394672.1:p.Lys671_Phe673del
NP_001394673.1:p.Lys671_Phe673del
NP_001394674.1:p.Lys671_Phe673del
NP_001394675.1:p.Lys671_Phe673del
NP_001394676.1:p.Lys671_Phe673del
NP_001394677.1:p.Lys671_Phe673del
NP_001394678.1:p.Lys671_Phe673del
NP_001394679.1:p.Lys672_Phe674del
NP_001394680.1:p.Lys672_Phe674del
NP_001394681.1:p.Lys672_Phe674del
NP_001394767.1:p.Lys671_Phe673del
NP_001394768.1:p.Lys671_Phe673del
NP_001394770.1:p.Lys671_Phe673del
NP_001394771.1:p.Lys671_Phe673del
NP_001394772.1:p.Lys671_Phe673del
NP_001394773.1:p.Lys671_Phe673del
NP_001394774.1:p.Lys671_Phe673del
NP_001394775.1:p.Lys671_Phe673del
NP_001394776.1:p.Lys671_Phe673del
NP_001394777.1:p.Lys671_Phe673del
NP_001394778.1:p.Lys671_Phe673del
NP_001394779.1:p.Lys672_Phe674del
NP_001394780.1:p.Lys672_Phe674del
NP_001394781.1:p.Lys672_Phe674del
NP_001394782.1:p.Lys648_Phe650del
NP_001394783.1:p.Lys719_Phe721del
NP_001394787.1:p.Lys719_Phe721del
NP_001394788.1:p.Lys719_Phe721del
NP_001394789.1:p.Lys718_Phe720del
NP_001394790.1:p.Lys718_Phe720del
NP_001394791.1:p.Lys652_Phe654del
NP_001394792.1:p.Lys678_Phe680del
NP_001394803.1:p.Lys651_Phe653del
NP_001394804.1:p.Lys651_Phe653del
NP_001394808.1:p.Lys649_Phe651del
NP_001394810.1:p.Lys649_Phe651del
NP_001394811.1:p.Lys649_Phe651del
NP_001394813.1:p.Lys649_Phe651del
NP_001394814.1:p.Lys649_Phe651del
NP_001394815.1:p.Lys649_Phe651del
NP_001394816.1:p.Lys649_Phe651del
NP_001394818.1:p.Lys649_Phe651del
NP_001394823.1:p.Lys648_Phe650del
NP_001394824.1:p.Lys648_Phe650del
NP_001394825.1:p.Lys648_Phe650del
NP_001394826.1:p.Lys648_Phe650del
NP_001394827.1:p.Lys648_Phe650del
NP_001394828.1:p.Lys648_Phe650del
NP_001394829.1:p.Lys649_Phe651del
NP_001394831.1:p.Lys649_Phe651del
NP_001394833.1:p.Lys649_Phe651del
NP_001394835.1:p.Lys649_Phe651del
NP_001394836.1:p.Lys649_Phe651del
NP_001394837.1:p.Lys649_Phe651del
NP_001394838.1:p.Lys649_Phe651del
NP_001394839.1:p.Lys649_Phe651del
NP_001394844.1:p.Lys648_Phe650del
NP_001394845.1:p.Lys648_Phe650del
NP_001394846.1:p.Lys648_Phe650del
NP_001394847.1:p.Lys648_Phe650del
NP_001394848.1:p.Lys678_Phe680del
NP_001394849.1:p.Lys631_Phe633del
NP_001394850.1:p.Lys631_Phe633del
NP_001394851.1:p.Lys631_Phe633del
NP_001394852.1:p.Lys631_Phe633del
NP_001394853.1:p.Lys631_Phe633del
NP_001394854.1:p.Lys631_Phe633del
NP_001394855.1:p.Lys631_Phe633del
NP_001394856.1:p.Lys631_Phe633del
NP_001394857.1:p.Lys631_Phe633del
NP_001394858.1:p.Lys631_Phe633del
NP_001394859.1:p.Lys630_Phe632del
NP_001394860.1:p.Lys630_Phe632del
NP_001394861.1:p.Lys630_Phe632del
NP_001394862.1:p.Lys631_Phe633del
NP_001394863.1:p.Lys630_Phe632del
NP_001394864.1:p.Lys631_Phe633del
NP_001394865.1:p.Lys630_Phe632del
NP_001394866.1:p.Lys678_Phe680del
NP_001394867.1:p.Lys678_Phe680del
NP_001394868.1:p.Lys678_Phe680del
NP_001394869.1:p.Lys677_Phe679del
NP_001394870.1:p.Lys677_Phe679del
NP_001394871.1:p.Lys672_Phe674del
NP_001394872.1:p.Lys671_Phe673del
NP_001394873.1:p.Lys672_Phe674del
NP_001394874.1:p.Lys672_Phe674del
NP_001394875.1:p.Lys608_Phe610del
NP_001394876.1:p.Lys608_Phe610del
NP_001394877.1:p.Lys608_Phe610del
NP_001394878.1:p.Lys608_Phe610del
NP_001394879.1:p.Lys608_Phe610del
NP_001394880.1:p.Lys608_Phe610del
NP_001394881.1:p.Lys608_Phe610del
NP_001394882.1:p.Lys608_Phe610del
NP_001394883.1:p.Lys607_Phe609del
NP_001394884.1:p.Lys607_Phe609del
NP_001394885.1:p.Lys607_Phe609del
NP_001394886.1:p.Lys608_Phe610del
NP_001394887.1:p.Lys607_Phe609del
NP_001394888.1:p.Lys592_Phe594del
NP_001394889.1:p.Lys592_Phe594del
NP_001394891.1:p.Lys591_Phe593del
NP_001394892.1:p.Lys592_Phe594del
NP_001394893.1:p.Lys671_Phe673del
NP_001394894.1:p.Lys551_Phe553del
NP_001394895.1:p.Lys423_Phe425del
NP_001394896.1:p.Lys423_Phe425del
NP_009225.1:p.Lys719_Phe721del
NP_009225.1:p.Lys719_Phe721del
NP_009228.2:p.Lys672_Phe674del
NP_009231.2:p.Lys719_Phe721del
LRG_292t1:c.2153_2161del
LRG_292:g.124608_124616del
LRG_292p1:p.Lys719_Phe721del
NC_000017.10:g.41245385_41245393del
NC_000017.10:g.41245387_41245395del
NM_007294.3:c.2153_2161delTTAAAGAAT
NM_007294.3:c.2155_2163delAAAGAATTT
NR_027676.1:n.2289_2297delTTAAAGAAT

Links:

dbSNP: rs863224841

NCBI 1000 Genomes Browser:

rs863224841

Molecular consequence:

NM_001407571.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407581.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407582.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407583.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407585.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407587.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407590.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407591.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407593.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407594.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407596.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407597.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407598.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407602.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407603.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407605.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407610.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407611.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407612.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407613.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407614.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407615.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407616.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407617.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407618.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407619.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407620.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407621.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407622.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407623.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407624.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407625.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407626.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407627.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407628.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407629.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407630.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407631.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407632.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407633.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407634.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407635.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407636.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407637.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407638.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407639.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407640.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407641.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407642.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407644.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407645.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407646.1:c.2146_2154del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407647.1:c.2146_2154del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407648.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407649.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407652.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407653.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407654.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407655.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407656.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407657.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407658.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407659.1:c.2074_2082del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407660.1:c.2074_2082del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407661.1:c.2074_2082del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407662.1:c.2074_2082del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407663.1:c.2077_2085del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407664.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407665.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407666.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407667.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407668.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407669.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407670.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407671.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407672.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407673.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407674.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407675.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407676.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407677.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407678.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407679.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407680.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407681.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407682.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407683.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407684.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407685.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407686.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407687.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407688.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407689.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407690.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407691.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407692.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407694.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407695.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407696.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407697.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407698.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407724.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407725.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407726.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407727.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407728.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407729.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407730.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407731.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407732.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407733.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407734.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407735.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407736.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407737.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407738.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407739.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407740.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407741.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407742.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407743.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407744.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407745.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407746.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407747.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407748.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407749.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407750.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407751.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407752.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407838.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407839.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407841.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407842.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407843.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407844.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407845.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407846.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407847.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407848.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407849.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407850.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407851.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407852.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407853.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407854.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407858.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407859.1:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407860.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407861.1:c.2152_2160del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407862.1:c.1954_1962del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407863.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407874.1:c.1951_1959del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407875.1:c.1951_1959del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407879.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407881.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407882.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407884.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407885.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407886.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407887.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407889.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407894.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407895.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407896.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407897.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407898.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407899.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407900.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407902.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407904.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407906.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407907.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407908.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407909.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407910.1:c.1945_1953del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407915.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407916.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407917.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407918.1:c.1942_1950del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407919.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407920.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407921.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407922.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407923.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407924.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407925.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407926.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407927.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407928.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407929.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407930.1:c.1888_1896del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407931.1:c.1888_1896del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407932.1:c.1888_1896del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407933.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407934.1:c.1888_1896del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407935.1:c.1891_1899del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407936.1:c.1888_1896del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407937.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407938.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407939.1:c.2032_2040del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407940.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407941.1:c.2029_2037del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407942.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407943.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407944.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407945.1:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407946.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407947.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407948.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407949.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407950.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407951.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407952.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407953.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407954.1:c.1819_1827del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407955.1:c.1819_1827del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407956.1:c.1819_1827del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407957.1:c.1822_1830del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407958.1:c.1819_1827del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407959.1:c.1774_1782del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407960.1:c.1774_1782del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407962.1:c.1771_1779del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407963.1:c.1774_1782del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407964.1:c.2011_2019del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407965.1:c.1651_1659del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407966.1:c.1267_1275del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407967.1:c.1267_1275del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007294.4:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007297.4:c.2014_2022del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_007300.4:c.2155_2163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001407968.1:c.788-1237_788-1229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-1237_788-1229del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1365_790+1373del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1368_778+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1368_709+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1368_709+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1368_709+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1368_706+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1368_709+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1368_709+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1368_706+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-2344_671-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-2344_671-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-2344_671-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-2344_668-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-2344_671-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-2344_671-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-2344_668-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-2344_668-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1368_664+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1368_661+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1368_652+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1368_643+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1368_643+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1368_643+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1368_643+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1368_643+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1368_646+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1368_643+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1368_784+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1368_586+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1368_583+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1368_586+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1368_574+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1368_574+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1368_574+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2344_548-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2344_545-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1368_523+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1368_523+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1368_523+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1368_523+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1368_523+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1368_523+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1368_454+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1368_520+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1368_520+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1368_520+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-2344_461-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-2344_461-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1368_451+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1368_451+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1368_406+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2344_404-2336del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1368_283+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1368_577+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1368_787+1376del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

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
SCV000698923	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Oct 3, 2016)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000698923

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Oct 3, 2016)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698923.1

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

Description

Variant summary: The BRCA1 c.2155_2163delAAAGAATTT (p.Lys719_Phe721del) variant involves the deletion of 3 consecutive non-conserved amino acids that are not within a known functional domain. One in silico tool predicts a benign outcome for this variant. This variant was absent in 121246 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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: May 1, 2024

ClinVar

Relating variation to medicine