NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Dec 7, 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:: RCV000047925.30

Allele description [Variation Report for NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)]

NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)

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.2679_2682del (p.Lys893fs)

Other names:

2798delGAAA; 2795del4; 2798_2801delGAAA

HGVS:

NC_000017.10:g.41244869_41244872del
NC_000017.11:g.43092852_43092855del
NG_005905.2:g.125132_125135del
NM_001407571.1:c.2466_2469del
NM_001407581.1:c.2679_2682del
NM_001407582.1:c.2679_2682del
NM_001407583.1:c.2679_2682del
NM_001407585.1:c.2679_2682del
NM_001407587.1:c.2676_2679del
NM_001407590.1:c.2676_2679del
NM_001407591.1:c.2676_2679del
NM_001407593.1:c.2679_2682del
NM_001407594.1:c.2679_2682del
NM_001407596.1:c.2679_2682del
NM_001407597.1:c.2679_2682del
NM_001407598.1:c.2679_2682del
NM_001407602.1:c.2679_2682del
NM_001407603.1:c.2679_2682del
NM_001407605.1:c.2679_2682del
NM_001407610.1:c.2676_2679del
NM_001407611.1:c.2676_2679del
NM_001407612.1:c.2676_2679del
NM_001407613.1:c.2676_2679del
NM_001407614.1:c.2676_2679del
NM_001407615.1:c.2676_2679del
NM_001407616.1:c.2679_2682del
NM_001407617.1:c.2679_2682del
NM_001407618.1:c.2679_2682del
NM_001407619.1:c.2679_2682del
NM_001407620.1:c.2679_2682del
NM_001407621.1:c.2679_2682del
NM_001407622.1:c.2679_2682del
NM_001407623.1:c.2679_2682del
NM_001407624.1:c.2679_2682del
NM_001407625.1:c.2679_2682del
NM_001407626.1:c.2679_2682del
NM_001407627.1:c.2676_2679del
NM_001407628.1:c.2676_2679del
NM_001407629.1:c.2676_2679del
NM_001407630.1:c.2676_2679del
NM_001407631.1:c.2676_2679del
NM_001407632.1:c.2676_2679del
NM_001407633.1:c.2676_2679del
NM_001407634.1:c.2676_2679del
NM_001407635.1:c.2676_2679del
NM_001407636.1:c.2676_2679del
NM_001407637.1:c.2676_2679del
NM_001407638.1:c.2676_2679del
NM_001407639.1:c.2679_2682del
NM_001407640.1:c.2679_2682del
NM_001407641.1:c.2679_2682del
NM_001407642.1:c.2679_2682del
NM_001407644.1:c.2676_2679del
NM_001407645.1:c.2676_2679del
NM_001407646.1:c.2670_2673del
NM_001407647.1:c.2670_2673del
NM_001407648.1:c.2556_2559del
NM_001407649.1:c.2553_2556del
NM_001407652.1:c.2679_2682del
NM_001407653.1:c.2601_2604del
NM_001407654.1:c.2601_2604del
NM_001407655.1:c.2601_2604del
NM_001407656.1:c.2601_2604del
NM_001407657.1:c.2601_2604del
NM_001407658.1:c.2601_2604del
NM_001407659.1:c.2598_2601del
NM_001407660.1:c.2598_2601del
NM_001407661.1:c.2598_2601del
NM_001407662.1:c.2598_2601del
NM_001407663.1:c.2601_2604del
NM_001407664.1:c.2556_2559del
NM_001407665.1:c.2556_2559del
NM_001407666.1:c.2556_2559del
NM_001407667.1:c.2556_2559del
NM_001407668.1:c.2556_2559del
NM_001407669.1:c.2556_2559del
NM_001407670.1:c.2553_2556del
NM_001407671.1:c.2553_2556del
NM_001407672.1:c.2553_2556del
NM_001407673.1:c.2553_2556del
NM_001407674.1:c.2556_2559del
NM_001407675.1:c.2556_2559del
NM_001407676.1:c.2556_2559del
NM_001407677.1:c.2556_2559del
NM_001407678.1:c.2556_2559del
NM_001407679.1:c.2556_2559del
NM_001407680.1:c.2556_2559del
NM_001407681.1:c.2556_2559del
NM_001407682.1:c.2556_2559del
NM_001407683.1:c.2556_2559del
NM_001407684.1:c.2679_2682del
NM_001407685.1:c.2553_2556del
NM_001407686.1:c.2553_2556del
NM_001407687.1:c.2553_2556del
NM_001407688.1:c.2553_2556del
NM_001407689.1:c.2553_2556del
NM_001407690.1:c.2553_2556del
NM_001407691.1:c.2553_2556del
NM_001407692.1:c.2538_2541del
NM_001407694.1:c.2538_2541del
NM_001407695.1:c.2538_2541del
NM_001407696.1:c.2538_2541del
NM_001407697.1:c.2538_2541del
NM_001407698.1:c.2538_2541del
NM_001407724.1:c.2538_2541del
NM_001407725.1:c.2538_2541del
NM_001407726.1:c.2538_2541del
NM_001407727.1:c.2538_2541del
NM_001407728.1:c.2538_2541del
NM_001407729.1:c.2538_2541del
NM_001407730.1:c.2538_2541del
NM_001407731.1:c.2538_2541del
NM_001407732.1:c.2538_2541del
NM_001407733.1:c.2538_2541del
NM_001407734.1:c.2538_2541del
NM_001407735.1:c.2538_2541del
NM_001407736.1:c.2538_2541del
NM_001407737.1:c.2538_2541del
NM_001407738.1:c.2538_2541del
NM_001407739.1:c.2538_2541del
NM_001407740.1:c.2535_2538del
NM_001407741.1:c.2535_2538del
NM_001407742.1:c.2535_2538del
NM_001407743.1:c.2535_2538del
NM_001407744.1:c.2535_2538del
NM_001407745.1:c.2535_2538del
NM_001407746.1:c.2535_2538del
NM_001407747.1:c.2535_2538del
NM_001407748.1:c.2535_2538del
NM_001407749.1:c.2535_2538del
NM_001407750.1:c.2538_2541del
NM_001407751.1:c.2538_2541del
NM_001407752.1:c.2538_2541del
NM_001407838.1:c.2535_2538del
NM_001407839.1:c.2535_2538del
NM_001407841.1:c.2535_2538del
NM_001407842.1:c.2535_2538del
NM_001407843.1:c.2535_2538del
NM_001407844.1:c.2535_2538del
NM_001407845.1:c.2535_2538del
NM_001407846.1:c.2535_2538del
NM_001407847.1:c.2535_2538del
NM_001407848.1:c.2535_2538del
NM_001407849.1:c.2535_2538del
NM_001407850.1:c.2538_2541del
NM_001407851.1:c.2538_2541del
NM_001407852.1:c.2538_2541del
NM_001407853.1:c.2466_2469del
NM_001407854.1:c.2679_2682del
NM_001407858.1:c.2679_2682del
NM_001407859.1:c.2679_2682del
NM_001407860.1:c.2676_2679del
NM_001407861.1:c.2676_2679del
NM_001407862.1:c.2478_2481del
NM_001407863.1:c.2556_2559del
NM_001407874.1:c.2475_2478del
NM_001407875.1:c.2475_2478del
NM_001407879.1:c.2469_2472del
NM_001407881.1:c.2469_2472del
NM_001407882.1:c.2469_2472del
NM_001407884.1:c.2469_2472del
NM_001407885.1:c.2469_2472del
NM_001407886.1:c.2469_2472del
NM_001407887.1:c.2469_2472del
NM_001407889.1:c.2469_2472del
NM_001407894.1:c.2466_2469del
NM_001407895.1:c.2466_2469del
NM_001407896.1:c.2466_2469del
NM_001407897.1:c.2466_2469del
NM_001407898.1:c.2466_2469del
NM_001407899.1:c.2466_2469del
NM_001407900.1:c.2469_2472del
NM_001407902.1:c.2469_2472del
NM_001407904.1:c.2469_2472del
NM_001407906.1:c.2469_2472del
NM_001407907.1:c.2469_2472del
NM_001407908.1:c.2469_2472del
NM_001407909.1:c.2469_2472del
NM_001407910.1:c.2469_2472del
NM_001407915.1:c.2466_2469del
NM_001407916.1:c.2466_2469del
NM_001407917.1:c.2466_2469del
NM_001407918.1:c.2466_2469del
NM_001407919.1:c.2556_2559del
NM_001407920.1:c.2415_2418del
NM_001407921.1:c.2415_2418del
NM_001407922.1:c.2415_2418del
NM_001407923.1:c.2415_2418del
NM_001407924.1:c.2415_2418del
NM_001407925.1:c.2415_2418del
NM_001407926.1:c.2415_2418del
NM_001407927.1:c.2415_2418del
NM_001407928.1:c.2415_2418del
NM_001407929.1:c.2415_2418del
NM_001407930.1:c.2412_2415del
NM_001407931.1:c.2412_2415del
NM_001407932.1:c.2412_2415del
NM_001407933.1:c.2415_2418del
NM_001407934.1:c.2412_2415del
NM_001407935.1:c.2415_2418del
NM_001407936.1:c.2412_2415del
NM_001407937.1:c.2556_2559del
NM_001407938.1:c.2556_2559del
NM_001407939.1:c.2556_2559del
NM_001407940.1:c.2553_2556del
NM_001407941.1:c.2553_2556del
NM_001407942.1:c.2538_2541del
NM_001407943.1:c.2535_2538del
NM_001407944.1:c.2538_2541del
NM_001407945.1:c.2538_2541del
NM_001407946.1:c.2346_2349del
NM_001407947.1:c.2346_2349del
NM_001407948.1:c.2346_2349del
NM_001407949.1:c.2346_2349del
NM_001407950.1:c.2346_2349del
NM_001407951.1:c.2346_2349del
NM_001407952.1:c.2346_2349del
NM_001407953.1:c.2346_2349del
NM_001407954.1:c.2343_2346del
NM_001407955.1:c.2343_2346del
NM_001407956.1:c.2343_2346del
NM_001407957.1:c.2346_2349del
NM_001407958.1:c.2343_2346del
NM_001407959.1:c.2298_2301del
NM_001407960.1:c.2298_2301del
NM_001407962.1:c.2295_2298del
NM_001407963.1:c.2298_2301del
NM_001407964.1:c.2535_2538del
NM_001407965.1:c.2175_2178del
NM_001407966.1:c.1791_1794del
NM_001407967.1:c.1791_1794del
NM_001407968.1:c.788-713_788-710del
NM_001407969.1:c.788-713_788-710del
NM_001407970.1:c.788-1820_788-1817del
NM_001407971.1:c.788-1820_788-1817del
NM_001407972.1:c.785-1820_785-1817del
NM_001407973.1:c.788-1820_788-1817del
NM_001407974.1:c.788-1820_788-1817del
NM_001407975.1:c.788-1820_788-1817del
NM_001407976.1:c.788-1820_788-1817del
NM_001407977.1:c.788-1820_788-1817del
NM_001407978.1:c.788-1820_788-1817del
NM_001407979.1:c.788-1820_788-1817del
NM_001407980.1:c.788-1820_788-1817del
NM_001407981.1:c.788-1820_788-1817del
NM_001407982.1:c.788-1820_788-1817del
NM_001407983.1:c.788-1820_788-1817del
NM_001407984.1:c.785-1820_785-1817del
NM_001407985.1:c.785-1820_785-1817del
NM_001407986.1:c.785-1820_785-1817del
NM_001407990.1:c.788-1820_788-1817del
NM_001407991.1:c.785-1820_785-1817del
NM_001407992.1:c.785-1820_785-1817del
NM_001407993.1:c.788-1820_788-1817del
NM_001408392.1:c.785-1820_785-1817del
NM_001408396.1:c.785-1820_785-1817del
NM_001408397.1:c.785-1820_785-1817del
NM_001408398.1:c.785-1820_785-1817del
NM_001408399.1:c.785-1820_785-1817del
NM_001408400.1:c.785-1820_785-1817del
NM_001408401.1:c.785-1820_785-1817del
NM_001408402.1:c.785-1820_785-1817del
NM_001408403.1:c.788-1820_788-1817del
NM_001408404.1:c.788-1820_788-1817del
NM_001408406.1:c.791-1829_791-1826del
NM_001408407.1:c.785-1820_785-1817del
NM_001408408.1:c.779-1820_779-1817del
NM_001408409.1:c.710-1820_710-1817del
NM_001408410.1:c.647-1820_647-1817del
NM_001408411.1:c.710-1820_710-1817del
NM_001408412.1:c.710-1820_710-1817del
NM_001408413.1:c.707-1820_707-1817del
NM_001408414.1:c.710-1820_710-1817del
NM_001408415.1:c.710-1820_710-1817del
NM_001408416.1:c.707-1820_707-1817del
NM_001408418.1:c.671-1820_671-1817del
NM_001408419.1:c.671-1820_671-1817del
NM_001408420.1:c.671-1820_671-1817del
NM_001408421.1:c.668-1820_668-1817del
NM_001408422.1:c.671-1820_671-1817del
NM_001408423.1:c.671-1820_671-1817del
NM_001408424.1:c.668-1820_668-1817del
NM_001408425.1:c.665-1820_665-1817del
NM_001408426.1:c.665-1820_665-1817del
NM_001408427.1:c.665-1820_665-1817del
NM_001408428.1:c.665-1820_665-1817del
NM_001408429.1:c.665-1820_665-1817del
NM_001408430.1:c.665-1820_665-1817del
NM_001408431.1:c.668-1820_668-1817del
NM_001408432.1:c.662-1820_662-1817del
NM_001408433.1:c.662-1820_662-1817del
NM_001408434.1:c.662-1820_662-1817del
NM_001408435.1:c.662-1820_662-1817del
NM_001408436.1:c.665-1820_665-1817del
NM_001408437.1:c.665-1820_665-1817del
NM_001408438.1:c.665-1820_665-1817del
NM_001408439.1:c.665-1820_665-1817del
NM_001408440.1:c.665-1820_665-1817del
NM_001408441.1:c.665-1820_665-1817del
NM_001408442.1:c.665-1820_665-1817del
NM_001408443.1:c.665-1820_665-1817del
NM_001408444.1:c.665-1820_665-1817del
NM_001408445.1:c.662-1820_662-1817del
NM_001408446.1:c.662-1820_662-1817del
NM_001408447.1:c.662-1820_662-1817del
NM_001408448.1:c.662-1820_662-1817del
NM_001408450.1:c.662-1820_662-1817del
NM_001408451.1:c.653-1820_653-1817del
NM_001408452.1:c.647-1820_647-1817del
NM_001408453.1:c.647-1820_647-1817del
NM_001408454.1:c.647-1820_647-1817del
NM_001408455.1:c.647-1820_647-1817del
NM_001408456.1:c.647-1820_647-1817del
NM_001408457.1:c.647-1820_647-1817del
NM_001408458.1:c.647-1820_647-1817del
NM_001408459.1:c.647-1820_647-1817del
NM_001408460.1:c.647-1820_647-1817del
NM_001408461.1:c.647-1820_647-1817del
NM_001408462.1:c.644-1820_644-1817del
NM_001408463.1:c.644-1820_644-1817del
NM_001408464.1:c.644-1820_644-1817del
NM_001408465.1:c.644-1820_644-1817del
NM_001408466.1:c.647-1820_647-1817del
NM_001408467.1:c.647-1820_647-1817del
NM_001408468.1:c.644-1820_644-1817del
NM_001408469.1:c.647-1820_647-1817del
NM_001408470.1:c.644-1820_644-1817del
NM_001408472.1:c.788-1820_788-1817del
NM_001408473.1:c.785-1820_785-1817del
NM_001408474.1:c.587-1820_587-1817del
NM_001408475.1:c.584-1820_584-1817del
NM_001408476.1:c.587-1820_587-1817del
NM_001408478.1:c.578-1820_578-1817del
NM_001408479.1:c.578-1820_578-1817del
NM_001408480.1:c.578-1820_578-1817del
NM_001408481.1:c.578-1820_578-1817del
NM_001408482.1:c.578-1820_578-1817del
NM_001408483.1:c.578-1820_578-1817del
NM_001408484.1:c.578-1820_578-1817del
NM_001408485.1:c.578-1820_578-1817del
NM_001408489.1:c.578-1820_578-1817del
NM_001408490.1:c.575-1820_575-1817del
NM_001408491.1:c.575-1820_575-1817del
NM_001408492.1:c.578-1820_578-1817del
NM_001408493.1:c.575-1820_575-1817del
NM_001408494.1:c.548-1820_548-1817del
NM_001408495.1:c.545-1820_545-1817del
NM_001408496.1:c.524-1820_524-1817del
NM_001408497.1:c.524-1820_524-1817del
NM_001408498.1:c.524-1820_524-1817del
NM_001408499.1:c.524-1820_524-1817del
NM_001408500.1:c.524-1820_524-1817del
NM_001408501.1:c.524-1820_524-1817del
NM_001408502.1:c.455-1820_455-1817del
NM_001408503.1:c.521-1820_521-1817del
NM_001408504.1:c.521-1820_521-1817del
NM_001408505.1:c.521-1820_521-1817del
NM_001408506.1:c.461-1820_461-1817del
NM_001408507.1:c.461-1820_461-1817del
NM_001408508.1:c.452-1820_452-1817del
NM_001408509.1:c.452-1820_452-1817del
NM_001408510.1:c.407-1820_407-1817del
NM_001408511.1:c.404-1820_404-1817del
NM_001408512.1:c.284-1820_284-1817del
NM_001408513.1:c.578-1820_578-1817del
NM_001408514.1:c.578-1820_578-1817del
NM_007294.4:c.2679_2682delMANE SELECT
NM_007297.4:c.2538_2541del
NM_007298.4:c.788-1820_788-1817del
NM_007299.4:c.788-1820_788-1817del
NM_007300.4:c.2679_2682del
NP_001394500.1:p.Lys822fs
NP_001394510.1:p.Lys893fs
NP_001394511.1:p.Lys893fs
NP_001394512.1:p.Lys893fs
NP_001394514.1:p.Lys893fs
NP_001394516.1:p.Lys892fs
NP_001394519.1:p.Lys892fs
NP_001394520.1:p.Lys892fs
NP_001394522.1:p.Lys893fs
NP_001394523.1:p.Lys893fs
NP_001394525.1:p.Lys893fs
NP_001394526.1:p.Lys893fs
NP_001394527.1:p.Lys893fs
NP_001394531.1:p.Lys893fs
NP_001394532.1:p.Lys893fs
NP_001394534.1:p.Lys893fs
NP_001394539.1:p.Lys892fs
NP_001394540.1:p.Lys892fs
NP_001394541.1:p.Lys892fs
NP_001394542.1:p.Lys892fs
NP_001394543.1:p.Lys892fs
NP_001394544.1:p.Lys892fs
NP_001394545.1:p.Lys893fs
NP_001394546.1:p.Lys893fs
NP_001394547.1:p.Lys893fs
NP_001394548.1:p.Lys893fs
NP_001394549.1:p.Lys893fs
NP_001394550.1:p.Lys893fs
NP_001394551.1:p.Lys893fs
NP_001394552.1:p.Lys893fs
NP_001394553.1:p.Lys893fs
NP_001394554.1:p.Lys893fs
NP_001394555.1:p.Lys893fs
NP_001394556.1:p.Lys892fs
NP_001394557.1:p.Lys892fs
NP_001394558.1:p.Lys892fs
NP_001394559.1:p.Lys892fs
NP_001394560.1:p.Lys892fs
NP_001394561.1:p.Lys892fs
NP_001394562.1:p.Lys892fs
NP_001394563.1:p.Lys892fs
NP_001394564.1:p.Lys892fs
NP_001394565.1:p.Lys892fs
NP_001394566.1:p.Lys892fs
NP_001394567.1:p.Lys892fs
NP_001394568.1:p.Lys893fs
NP_001394569.1:p.Lys893fs
NP_001394570.1:p.Lys893fs
NP_001394571.1:p.Lys893fs
NP_001394573.1:p.Lys892fs
NP_001394574.1:p.Lys892fs
NP_001394575.1:p.Lys890fs
NP_001394576.1:p.Lys890fs
NP_001394577.1:p.Lys852fs
NP_001394578.1:p.Lys851fs
NP_001394581.1:p.Lys893fs
NP_001394582.1:p.Lys867fs
NP_001394583.1:p.Lys867fs
NP_001394584.1:p.Lys867fs
NP_001394585.1:p.Lys867fs
NP_001394586.1:p.Lys867fs
NP_001394587.1:p.Lys867fs
NP_001394588.1:p.Lys866fs
NP_001394589.1:p.Lys866fs
NP_001394590.1:p.Lys866fs
NP_001394591.1:p.Lys866fs
NP_001394592.1:p.Lys867fs
NP_001394593.1:p.Lys852fs
NP_001394594.1:p.Lys852fs
NP_001394595.1:p.Lys852fs
NP_001394596.1:p.Lys852fs
NP_001394597.1:p.Lys852fs
NP_001394598.1:p.Lys852fs
NP_001394599.1:p.Lys851fs
NP_001394600.1:p.Lys851fs
NP_001394601.1:p.Lys851fs
NP_001394602.1:p.Lys851fs
NP_001394603.1:p.Lys852fs
NP_001394604.1:p.Lys852fs
NP_001394605.1:p.Lys852fs
NP_001394606.1:p.Lys852fs
NP_001394607.1:p.Lys852fs
NP_001394608.1:p.Lys852fs
NP_001394609.1:p.Lys852fs
NP_001394610.1:p.Lys852fs
NP_001394611.1:p.Lys852fs
NP_001394612.1:p.Lys852fs
NP_001394613.1:p.Lys893fs
NP_001394614.1:p.Lys851fs
NP_001394615.1:p.Lys851fs
NP_001394616.1:p.Lys851fs
NP_001394617.1:p.Lys851fs
NP_001394618.1:p.Lys851fs
NP_001394619.1:p.Lys851fs
NP_001394620.1:p.Lys851fs
NP_001394621.1:p.Lys846fs
NP_001394623.1:p.Lys846fs
NP_001394624.1:p.Lys846fs
NP_001394625.1:p.Lys846fs
NP_001394626.1:p.Lys846fs
NP_001394627.1:p.Lys846fs
NP_001394653.1:p.Lys846fs
NP_001394654.1:p.Lys846fs
NP_001394655.1:p.Lys846fs
NP_001394656.1:p.Lys846fs
NP_001394657.1:p.Lys846fs
NP_001394658.1:p.Lys846fs
NP_001394659.1:p.Lys846fs
NP_001394660.1:p.Lys846fs
NP_001394661.1:p.Lys846fs
NP_001394662.1:p.Lys846fs
NP_001394663.1:p.Lys846fs
NP_001394664.1:p.Lys846fs
NP_001394665.1:p.Lys846fs
NP_001394666.1:p.Lys846fs
NP_001394667.1:p.Lys846fs
NP_001394668.1:p.Lys846fs
NP_001394669.1:p.Lys845fs
NP_001394670.1:p.Lys845fs
NP_001394671.1:p.Lys845fs
NP_001394672.1:p.Lys845fs
NP_001394673.1:p.Lys845fs
NP_001394674.1:p.Lys845fs
NP_001394675.1:p.Lys845fs
NP_001394676.1:p.Lys845fs
NP_001394677.1:p.Lys845fs
NP_001394678.1:p.Lys845fs
NP_001394679.1:p.Lys846fs
NP_001394680.1:p.Lys846fs
NP_001394681.1:p.Lys846fs
NP_001394767.1:p.Lys845fs
NP_001394768.1:p.Lys845fs
NP_001394770.1:p.Lys845fs
NP_001394771.1:p.Lys845fs
NP_001394772.1:p.Lys845fs
NP_001394773.1:p.Lys845fs
NP_001394774.1:p.Lys845fs
NP_001394775.1:p.Lys845fs
NP_001394776.1:p.Lys845fs
NP_001394777.1:p.Lys845fs
NP_001394778.1:p.Lys845fs
NP_001394779.1:p.Lys846fs
NP_001394780.1:p.Lys846fs
NP_001394781.1:p.Lys846fs
NP_001394782.1:p.Lys822fs
NP_001394783.1:p.Lys893fs
NP_001394787.1:p.Lys893fs
NP_001394788.1:p.Lys893fs
NP_001394789.1:p.Lys892fs
NP_001394790.1:p.Lys892fs
NP_001394791.1:p.Lys826fs
NP_001394792.1:p.Lys852fs
NP_001394803.1:p.Lys825fs
NP_001394804.1:p.Lys825fs
NP_001394808.1:p.Lys823fs
NP_001394810.1:p.Lys823fs
NP_001394811.1:p.Lys823fs
NP_001394813.1:p.Lys823fs
NP_001394814.1:p.Lys823fs
NP_001394815.1:p.Lys823fs
NP_001394816.1:p.Lys823fs
NP_001394818.1:p.Lys823fs
NP_001394823.1:p.Lys822fs
NP_001394824.1:p.Lys822fs
NP_001394825.1:p.Lys822fs
NP_001394826.1:p.Lys822fs
NP_001394827.1:p.Lys822fs
NP_001394828.1:p.Lys822fs
NP_001394829.1:p.Lys823fs
NP_001394831.1:p.Lys823fs
NP_001394833.1:p.Lys823fs
NP_001394835.1:p.Lys823fs
NP_001394836.1:p.Lys823fs
NP_001394837.1:p.Lys823fs
NP_001394838.1:p.Lys823fs
NP_001394839.1:p.Lys823fs
NP_001394844.1:p.Lys822fs
NP_001394845.1:p.Lys822fs
NP_001394846.1:p.Lys822fs
NP_001394847.1:p.Lys822fs
NP_001394848.1:p.Lys852fs
NP_001394849.1:p.Lys805fs
NP_001394850.1:p.Lys805fs
NP_001394851.1:p.Lys805fs
NP_001394852.1:p.Lys805fs
NP_001394853.1:p.Lys805fs
NP_001394854.1:p.Lys805fs
NP_001394855.1:p.Lys805fs
NP_001394856.1:p.Lys805fs
NP_001394857.1:p.Lys805fs
NP_001394858.1:p.Lys805fs
NP_001394859.1:p.Lys804fs
NP_001394860.1:p.Lys804fs
NP_001394861.1:p.Lys804fs
NP_001394862.1:p.Lys805fs
NP_001394863.1:p.Lys804fs
NP_001394864.1:p.Lys805fs
NP_001394865.1:p.Lys804fs
NP_001394866.1:p.Lys852fs
NP_001394867.1:p.Lys852fs
NP_001394868.1:p.Lys852fs
NP_001394869.1:p.Lys851fs
NP_001394870.1:p.Lys851fs
NP_001394871.1:p.Lys846fs
NP_001394872.1:p.Lys845fs
NP_001394873.1:p.Lys846fs
NP_001394874.1:p.Lys846fs
NP_001394875.1:p.Lys782fs
NP_001394876.1:p.Lys782fs
NP_001394877.1:p.Lys782fs
NP_001394878.1:p.Lys782fs
NP_001394879.1:p.Lys782fs
NP_001394880.1:p.Lys782fs
NP_001394881.1:p.Lys782fs
NP_001394882.1:p.Lys782fs
NP_001394883.1:p.Lys781fs
NP_001394884.1:p.Lys781fs
NP_001394885.1:p.Lys781fs
NP_001394886.1:p.Lys782fs
NP_001394887.1:p.Lys781fs
NP_001394888.1:p.Lys766fs
NP_001394889.1:p.Lys766fs
NP_001394891.1:p.Lys765fs
NP_001394892.1:p.Lys766fs
NP_001394893.1:p.Lys845fs
NP_001394894.1:p.Lys725fs
NP_001394895.1:p.Lys597fs
NP_001394896.1:p.Lys597fs
NP_009225.1:p.Lys893Asnfs
NP_009225.1:p.Lys893fs
NP_009228.2:p.Lys846fs
NP_009231.2:p.Lys893fs
LRG_292t1:c.2676_2679del
LRG_292:g.125132_125135del
LRG_292p1:p.Lys893Asnfs
NC_000017.10:g.41244866_41244869del
NC_000017.10:g.41244866_41244869delTTTC
NC_000017.10:g.41244869_41244872del
NC_000017.10:g.41244869_41244872delCTTT
NC_000017.10:g.41244869_41244872delCTTT
NM_007294.3:c.2676_2679delAAAG
NM_007294.3:c.2679_2682delGAAA
NM_007294.4:c.2679_2682del
NR_027676.1:n.2812_2815delAAAG
U14680.1:n.2798_2801delGAAA
p.K893Nfs*106
p.Lys893Asnfs*106
p.Lys893AsnfsX106

Nucleotide change:

2798del4

Protein change:

K597fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2795&base_change=del AAAG; Breast Cancer Information Core (BIC) (BRCA1): 2798&base_change=del GAAA; dbSNP: rs80357596

NCBI 1000 Genomes Browser:

rs80357596

Molecular consequence:

NM_001407571.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2670_2673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2670_2673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2598_2601del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2598_2601del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2598_2601del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2598_2601del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2601_2604del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2676_2679del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.2478_2481del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.2475_2478del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.2475_2478del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.2469_2472del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2466_2469del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2412_2415del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2412_2415del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2412_2415del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2412_2415del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2415_2418del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2412_2415del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.2556_2559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.2553_2556del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2343_2346del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2343_2346del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2343_2346del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2346_2349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2343_2346del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2298_2301del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2298_2301del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2295_2298del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2298_2301del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.2535_2538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2175_2178del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1791_1794del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1791_1794del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2538_2541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2679_2682del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-713_788-710del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-713_788-710del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1829_791-1826del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1820_779-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1820_710-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1820_710-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1820_710-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1820_707-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1820_710-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1820_710-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1820_707-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1820_671-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1820_671-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1820_671-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1820_668-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1820_671-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1820_671-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1820_668-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1820_668-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1820_665-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1820_662-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1820_653-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1820_644-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1820_644-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1820_644-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1820_644-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1820_644-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1820_647-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1820_644-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1820_785-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1820_587-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1820_584-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1820_587-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1820_575-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1820_575-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1820_575-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1820_548-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1820_545-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1820_524-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1820_524-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1820_524-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1820_524-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1820_524-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1820_524-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1820_455-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1820_521-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1820_521-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1820_521-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1820_461-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1820_461-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1820_452-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1820_452-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1820_407-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1820_404-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1820_284-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1820_578-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1820_788-1817del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

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
SCV000075938	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 7, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20104584, 9145677, 22006311, 28492532
SCV000587245	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
SCV000605741	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Apr 28, 2016)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 9663595, 21702907, 22006311, 9145677, 20104584, 22762150, 24033266
SCV000918689	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (May 27, 2021)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 22711857, 23192404, 16528604, 9145677, 22333603, 8622478 Citation Link

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Summary from all submissions

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

Citations

PubMed

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

Wagner TM, Möslinger RA, Muhr D, Langbauer G, Hirtenlehner K, Concin H, Doeller W, Haid A, Lang AH, Mayer P, Ropp E, Kubista E, Amirimani B, Helbich T, Becherer A, Scheiner O, Breiteneder H, Borg A, Devilee P, Oefner P, Zielinski C.

Int J Cancer. 1998 Jul 29;77(3):354-60.

PubMed [citation]

PMID:: 9663595

See all PubMed Citations (13)

Details of each submission

From Invitae, SCV000075938.16

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Lys893Asnfs*106) 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 premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 9145677, 22006311). This variant is also known as 2798delGAAA. ClinVar contains an entry for this variant (Variation ID: 37481). 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), SCV000587245.1

#	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000605741.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

Description

The p.Lys893fs variant in BRCA1 has been reported in >50 individuals with BRCA1- associated cancers (Couch 1997, Wagner 1998, Borg 2012, Walsh 2011, Lecarpentier 2012, Breast Cancer Information Core (BIC) database) and was absent from large population studies, though the ability of these studies to accurately detect ind els may be limited. This variant is predicted to cause a frameshift, which alter s the protein?s amino acid sequence beginning at position 893 and leads to a pre mature termination codon 106 amino acids downstream. Heterozygous loss of functi on of the BRCA1 gene is an established disease mechanism in individuals with her editary breast and ovarian cancer (HBOC). In summary, this variant meets our cri teria to be classified as pathogenic for HBOC in an autosomal dominant manner.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918689.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

Variant summary: BRCA1 c.2679_2682delGAAA (p.Lys893AsnfsX106) 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 250972 control chromosomes. c.2679_2682delGAAA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (ie. Alsop_2012, Couch_1997, Rummel_2013, Roberston_2012, Wagner_1996, etc). Ten clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories 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: May 26, 2024

ClinVar

Relating variation to medicine