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NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) AND Malignant tumor of breast

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001357913.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)]

NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
Other names:
p.K862E:AAG>GAG
HGVS:
  • NC_000017.11:g.43092947T>C
  • NG_005905.2:g.125037A>G
  • NM_001407571.1:c.2371A>G
  • NM_001407581.1:c.2584A>G
  • NM_001407582.1:c.2584A>G
  • NM_001407583.1:c.2584A>G
  • NM_001407585.1:c.2584A>G
  • NM_001407587.1:c.2581A>G
  • NM_001407590.1:c.2581A>G
  • NM_001407591.1:c.2581A>G
  • NM_001407593.1:c.2584A>G
  • NM_001407594.1:c.2584A>G
  • NM_001407596.1:c.2584A>G
  • NM_001407597.1:c.2584A>G
  • NM_001407598.1:c.2584A>G
  • NM_001407602.1:c.2584A>G
  • NM_001407603.1:c.2584A>G
  • NM_001407605.1:c.2584A>G
  • NM_001407610.1:c.2581A>G
  • NM_001407611.1:c.2581A>G
  • NM_001407612.1:c.2581A>G
  • NM_001407613.1:c.2581A>G
  • NM_001407614.1:c.2581A>G
  • NM_001407615.1:c.2581A>G
  • NM_001407616.1:c.2584A>G
  • NM_001407617.1:c.2584A>G
  • NM_001407618.1:c.2584A>G
  • NM_001407619.1:c.2584A>G
  • NM_001407620.1:c.2584A>G
  • NM_001407621.1:c.2584A>G
  • NM_001407622.1:c.2584A>G
  • NM_001407623.1:c.2584A>G
  • NM_001407624.1:c.2584A>G
  • NM_001407625.1:c.2584A>G
  • NM_001407626.1:c.2584A>G
  • NM_001407627.1:c.2581A>G
  • NM_001407628.1:c.2581A>G
  • NM_001407629.1:c.2581A>G
  • NM_001407630.1:c.2581A>G
  • NM_001407631.1:c.2581A>G
  • NM_001407632.1:c.2581A>G
  • NM_001407633.1:c.2581A>G
  • NM_001407634.1:c.2581A>G
  • NM_001407635.1:c.2581A>G
  • NM_001407636.1:c.2581A>G
  • NM_001407637.1:c.2581A>G
  • NM_001407638.1:c.2581A>G
  • NM_001407639.1:c.2584A>G
  • NM_001407640.1:c.2584A>G
  • NM_001407641.1:c.2584A>G
  • NM_001407642.1:c.2584A>G
  • NM_001407644.1:c.2581A>G
  • NM_001407645.1:c.2581A>G
  • NM_001407646.1:c.2575A>G
  • NM_001407647.1:c.2575A>G
  • NM_001407648.1:c.2461A>G
  • NM_001407649.1:c.2458A>G
  • NM_001407652.1:c.2584A>G
  • NM_001407653.1:c.2506A>G
  • NM_001407654.1:c.2506A>G
  • NM_001407655.1:c.2506A>G
  • NM_001407656.1:c.2506A>G
  • NM_001407657.1:c.2506A>G
  • NM_001407658.1:c.2506A>G
  • NM_001407659.1:c.2503A>G
  • NM_001407660.1:c.2503A>G
  • NM_001407661.1:c.2503A>G
  • NM_001407662.1:c.2503A>G
  • NM_001407663.1:c.2506A>G
  • NM_001407664.1:c.2461A>G
  • NM_001407665.1:c.2461A>G
  • NM_001407666.1:c.2461A>G
  • NM_001407667.1:c.2461A>G
  • NM_001407668.1:c.2461A>G
  • NM_001407669.1:c.2461A>G
  • NM_001407670.1:c.2458A>G
  • NM_001407671.1:c.2458A>G
  • NM_001407672.1:c.2458A>G
  • NM_001407673.1:c.2458A>G
  • NM_001407674.1:c.2461A>G
  • NM_001407675.1:c.2461A>G
  • NM_001407676.1:c.2461A>G
  • NM_001407677.1:c.2461A>G
  • NM_001407678.1:c.2461A>G
  • NM_001407679.1:c.2461A>G
  • NM_001407680.1:c.2461A>G
  • NM_001407681.1:c.2461A>G
  • NM_001407682.1:c.2461A>G
  • NM_001407683.1:c.2461A>G
  • NM_001407684.1:c.2584A>G
  • NM_001407685.1:c.2458A>G
  • NM_001407686.1:c.2458A>G
  • NM_001407687.1:c.2458A>G
  • NM_001407688.1:c.2458A>G
  • NM_001407689.1:c.2458A>G
  • NM_001407690.1:c.2458A>G
  • NM_001407691.1:c.2458A>G
  • NM_001407692.1:c.2443A>G
  • NM_001407694.1:c.2443A>G
  • NM_001407695.1:c.2443A>G
  • NM_001407696.1:c.2443A>G
  • NM_001407697.1:c.2443A>G
  • NM_001407698.1:c.2443A>G
  • NM_001407724.1:c.2443A>G
  • NM_001407725.1:c.2443A>G
  • NM_001407726.1:c.2443A>G
  • NM_001407727.1:c.2443A>G
  • NM_001407728.1:c.2443A>G
  • NM_001407729.1:c.2443A>G
  • NM_001407730.1:c.2443A>G
  • NM_001407731.1:c.2443A>G
  • NM_001407732.1:c.2443A>G
  • NM_001407733.1:c.2443A>G
  • NM_001407734.1:c.2443A>G
  • NM_001407735.1:c.2443A>G
  • NM_001407736.1:c.2443A>G
  • NM_001407737.1:c.2443A>G
  • NM_001407738.1:c.2443A>G
  • NM_001407739.1:c.2443A>G
  • NM_001407740.1:c.2440A>G
  • NM_001407741.1:c.2440A>G
  • NM_001407742.1:c.2440A>G
  • NM_001407743.1:c.2440A>G
  • NM_001407744.1:c.2440A>G
  • NM_001407745.1:c.2440A>G
  • NM_001407746.1:c.2440A>G
  • NM_001407747.1:c.2440A>G
  • NM_001407748.1:c.2440A>G
  • NM_001407749.1:c.2440A>G
  • NM_001407750.1:c.2443A>G
  • NM_001407751.1:c.2443A>G
  • NM_001407752.1:c.2443A>G
  • NM_001407838.1:c.2440A>G
  • NM_001407839.1:c.2440A>G
  • NM_001407841.1:c.2440A>G
  • NM_001407842.1:c.2440A>G
  • NM_001407843.1:c.2440A>G
  • NM_001407844.1:c.2440A>G
  • NM_001407845.1:c.2440A>G
  • NM_001407846.1:c.2440A>G
  • NM_001407847.1:c.2440A>G
  • NM_001407848.1:c.2440A>G
  • NM_001407849.1:c.2440A>G
  • NM_001407850.1:c.2443A>G
  • NM_001407851.1:c.2443A>G
  • NM_001407852.1:c.2443A>G
  • NM_001407853.1:c.2371A>G
  • NM_001407854.1:c.2584A>G
  • NM_001407858.1:c.2584A>G
  • NM_001407859.1:c.2584A>G
  • NM_001407860.1:c.2581A>G
  • NM_001407861.1:c.2581A>G
  • NM_001407862.1:c.2383A>G
  • NM_001407863.1:c.2461A>G
  • NM_001407874.1:c.2380A>G
  • NM_001407875.1:c.2380A>G
  • NM_001407879.1:c.2374A>G
  • NM_001407881.1:c.2374A>G
  • NM_001407882.1:c.2374A>G
  • NM_001407884.1:c.2374A>G
  • NM_001407885.1:c.2374A>G
  • NM_001407886.1:c.2374A>G
  • NM_001407887.1:c.2374A>G
  • NM_001407889.1:c.2374A>G
  • NM_001407894.1:c.2371A>G
  • NM_001407895.1:c.2371A>G
  • NM_001407896.1:c.2371A>G
  • NM_001407897.1:c.2371A>G
  • NM_001407898.1:c.2371A>G
  • NM_001407899.1:c.2371A>G
  • NM_001407900.1:c.2374A>G
  • NM_001407902.1:c.2374A>G
  • NM_001407904.1:c.2374A>G
  • NM_001407906.1:c.2374A>G
  • NM_001407907.1:c.2374A>G
  • NM_001407908.1:c.2374A>G
  • NM_001407909.1:c.2374A>G
  • NM_001407910.1:c.2374A>G
  • NM_001407915.1:c.2371A>G
  • NM_001407916.1:c.2371A>G
  • NM_001407917.1:c.2371A>G
  • NM_001407918.1:c.2371A>G
  • NM_001407919.1:c.2461A>G
  • NM_001407920.1:c.2320A>G
  • NM_001407921.1:c.2320A>G
  • NM_001407922.1:c.2320A>G
  • NM_001407923.1:c.2320A>G
  • NM_001407924.1:c.2320A>G
  • NM_001407925.1:c.2320A>G
  • NM_001407926.1:c.2320A>G
  • NM_001407927.1:c.2320A>G
  • NM_001407928.1:c.2320A>G
  • NM_001407929.1:c.2320A>G
  • NM_001407930.1:c.2317A>G
  • NM_001407931.1:c.2317A>G
  • NM_001407932.1:c.2317A>G
  • NM_001407933.1:c.2320A>G
  • NM_001407934.1:c.2317A>G
  • NM_001407935.1:c.2320A>G
  • NM_001407936.1:c.2317A>G
  • NM_001407937.1:c.2461A>G
  • NM_001407938.1:c.2461A>G
  • NM_001407939.1:c.2461A>G
  • NM_001407940.1:c.2458A>G
  • NM_001407941.1:c.2458A>G
  • NM_001407942.1:c.2443A>G
  • NM_001407943.1:c.2440A>G
  • NM_001407944.1:c.2443A>G
  • NM_001407945.1:c.2443A>G
  • NM_001407946.1:c.2251A>G
  • NM_001407947.1:c.2251A>G
  • NM_001407948.1:c.2251A>G
  • NM_001407949.1:c.2251A>G
  • NM_001407950.1:c.2251A>G
  • NM_001407951.1:c.2251A>G
  • NM_001407952.1:c.2251A>G
  • NM_001407953.1:c.2251A>G
  • NM_001407954.1:c.2248A>G
  • NM_001407955.1:c.2248A>G
  • NM_001407956.1:c.2248A>G
  • NM_001407957.1:c.2251A>G
  • NM_001407958.1:c.2248A>G
  • NM_001407959.1:c.2203A>G
  • NM_001407960.1:c.2203A>G
  • NM_001407962.1:c.2200A>G
  • NM_001407963.1:c.2203A>G
  • NM_001407964.1:c.2440A>G
  • NM_001407965.1:c.2080A>G
  • NM_001407966.1:c.1696A>G
  • NM_001407967.1:c.1696A>G
  • NM_001407968.1:c.788-808A>G
  • NM_001407969.1:c.788-808A>G
  • NM_001407970.1:c.787+1797A>G
  • NM_001407971.1:c.787+1797A>G
  • NM_001407972.1:c.784+1797A>G
  • NM_001407973.1:c.787+1797A>G
  • NM_001407974.1:c.787+1797A>G
  • NM_001407975.1:c.787+1797A>G
  • NM_001407976.1:c.787+1797A>G
  • NM_001407977.1:c.787+1797A>G
  • NM_001407978.1:c.787+1797A>G
  • NM_001407979.1:c.787+1797A>G
  • NM_001407980.1:c.787+1797A>G
  • NM_001407981.1:c.787+1797A>G
  • NM_001407982.1:c.787+1797A>G
  • NM_001407983.1:c.787+1797A>G
  • NM_001407984.1:c.784+1797A>G
  • NM_001407985.1:c.784+1797A>G
  • NM_001407986.1:c.784+1797A>G
  • NM_001407990.1:c.787+1797A>G
  • NM_001407991.1:c.784+1797A>G
  • NM_001407992.1:c.784+1797A>G
  • NM_001407993.1:c.787+1797A>G
  • NM_001408392.1:c.784+1797A>G
  • NM_001408396.1:c.784+1797A>G
  • NM_001408397.1:c.784+1797A>G
  • NM_001408398.1:c.784+1797A>G
  • NM_001408399.1:c.784+1797A>G
  • NM_001408400.1:c.784+1797A>G
  • NM_001408401.1:c.784+1797A>G
  • NM_001408402.1:c.784+1797A>G
  • NM_001408403.1:c.787+1797A>G
  • NM_001408404.1:c.787+1797A>G
  • NM_001408406.1:c.790+1794A>G
  • NM_001408407.1:c.784+1797A>G
  • NM_001408408.1:c.778+1797A>G
  • NM_001408409.1:c.709+1797A>G
  • NM_001408410.1:c.646+1797A>G
  • NM_001408411.1:c.709+1797A>G
  • NM_001408412.1:c.709+1797A>G
  • NM_001408413.1:c.706+1797A>G
  • NM_001408414.1:c.709+1797A>G
  • NM_001408415.1:c.709+1797A>G
  • NM_001408416.1:c.706+1797A>G
  • NM_001408418.1:c.671-1915A>G
  • NM_001408419.1:c.671-1915A>G
  • NM_001408420.1:c.671-1915A>G
  • NM_001408421.1:c.668-1915A>G
  • NM_001408422.1:c.671-1915A>G
  • NM_001408423.1:c.671-1915A>G
  • NM_001408424.1:c.668-1915A>G
  • NM_001408425.1:c.664+1797A>G
  • NM_001408426.1:c.664+1797A>G
  • NM_001408427.1:c.664+1797A>G
  • NM_001408428.1:c.664+1797A>G
  • NM_001408429.1:c.664+1797A>G
  • NM_001408430.1:c.664+1797A>G
  • NM_001408431.1:c.668-1915A>G
  • NM_001408432.1:c.661+1797A>G
  • NM_001408433.1:c.661+1797A>G
  • NM_001408434.1:c.661+1797A>G
  • NM_001408435.1:c.661+1797A>G
  • NM_001408436.1:c.664+1797A>G
  • NM_001408437.1:c.664+1797A>G
  • NM_001408438.1:c.664+1797A>G
  • NM_001408439.1:c.664+1797A>G
  • NM_001408440.1:c.664+1797A>G
  • NM_001408441.1:c.664+1797A>G
  • NM_001408442.1:c.664+1797A>G
  • NM_001408443.1:c.664+1797A>G
  • NM_001408444.1:c.664+1797A>G
  • NM_001408445.1:c.661+1797A>G
  • NM_001408446.1:c.661+1797A>G
  • NM_001408447.1:c.661+1797A>G
  • NM_001408448.1:c.661+1797A>G
  • NM_001408450.1:c.661+1797A>G
  • NM_001408451.1:c.652+1797A>G
  • NM_001408452.1:c.646+1797A>G
  • NM_001408453.1:c.646+1797A>G
  • NM_001408454.1:c.646+1797A>G
  • NM_001408455.1:c.646+1797A>G
  • NM_001408456.1:c.646+1797A>G
  • NM_001408457.1:c.646+1797A>G
  • NM_001408458.1:c.646+1797A>G
  • NM_001408459.1:c.646+1797A>G
  • NM_001408460.1:c.646+1797A>G
  • NM_001408461.1:c.646+1797A>G
  • NM_001408462.1:c.643+1797A>G
  • NM_001408463.1:c.643+1797A>G
  • NM_001408464.1:c.643+1797A>G
  • NM_001408465.1:c.643+1797A>G
  • NM_001408466.1:c.646+1797A>G
  • NM_001408467.1:c.646+1797A>G
  • NM_001408468.1:c.643+1797A>G
  • NM_001408469.1:c.646+1797A>G
  • NM_001408470.1:c.643+1797A>G
  • NM_001408472.1:c.787+1797A>G
  • NM_001408473.1:c.784+1797A>G
  • NM_001408474.1:c.586+1797A>G
  • NM_001408475.1:c.583+1797A>G
  • NM_001408476.1:c.586+1797A>G
  • NM_001408478.1:c.577+1797A>G
  • NM_001408479.1:c.577+1797A>G
  • NM_001408480.1:c.577+1797A>G
  • NM_001408481.1:c.577+1797A>G
  • NM_001408482.1:c.577+1797A>G
  • NM_001408483.1:c.577+1797A>G
  • NM_001408484.1:c.577+1797A>G
  • NM_001408485.1:c.577+1797A>G
  • NM_001408489.1:c.577+1797A>G
  • NM_001408490.1:c.574+1797A>G
  • NM_001408491.1:c.574+1797A>G
  • NM_001408492.1:c.577+1797A>G
  • NM_001408493.1:c.574+1797A>G
  • NM_001408494.1:c.548-1915A>G
  • NM_001408495.1:c.545-1915A>G
  • NM_001408496.1:c.523+1797A>G
  • NM_001408497.1:c.523+1797A>G
  • NM_001408498.1:c.523+1797A>G
  • NM_001408499.1:c.523+1797A>G
  • NM_001408500.1:c.523+1797A>G
  • NM_001408501.1:c.523+1797A>G
  • NM_001408502.1:c.454+1797A>G
  • NM_001408503.1:c.520+1797A>G
  • NM_001408504.1:c.520+1797A>G
  • NM_001408505.1:c.520+1797A>G
  • NM_001408506.1:c.461-1915A>G
  • NM_001408507.1:c.461-1915A>G
  • NM_001408508.1:c.451+1797A>G
  • NM_001408509.1:c.451+1797A>G
  • NM_001408510.1:c.406+1797A>G
  • NM_001408511.1:c.404-1915A>G
  • NM_001408512.1:c.283+1797A>G
  • NM_001408513.1:c.577+1797A>G
  • NM_001408514.1:c.577+1797A>G
  • NM_007294.4:c.2584A>GMANE SELECT
  • NM_007297.4:c.2443A>G
  • NM_007298.4:c.787+1797A>G
  • NM_007299.4:c.787+1797A>G
  • NM_007300.3:c.2584A>G
  • NM_007300.4:c.2584A>G
  • NP_001394500.1:p.Lys791Glu
  • NP_001394510.1:p.Lys862Glu
  • NP_001394511.1:p.Lys862Glu
  • NP_001394512.1:p.Lys862Glu
  • NP_001394514.1:p.Lys862Glu
  • NP_001394516.1:p.Lys861Glu
  • NP_001394519.1:p.Lys861Glu
  • NP_001394520.1:p.Lys861Glu
  • NP_001394522.1:p.Lys862Glu
  • NP_001394523.1:p.Lys862Glu
  • NP_001394525.1:p.Lys862Glu
  • NP_001394526.1:p.Lys862Glu
  • NP_001394527.1:p.Lys862Glu
  • NP_001394531.1:p.Lys862Glu
  • NP_001394532.1:p.Lys862Glu
  • NP_001394534.1:p.Lys862Glu
  • NP_001394539.1:p.Lys861Glu
  • NP_001394540.1:p.Lys861Glu
  • NP_001394541.1:p.Lys861Glu
  • NP_001394542.1:p.Lys861Glu
  • NP_001394543.1:p.Lys861Glu
  • NP_001394544.1:p.Lys861Glu
  • NP_001394545.1:p.Lys862Glu
  • NP_001394546.1:p.Lys862Glu
  • NP_001394547.1:p.Lys862Glu
  • NP_001394548.1:p.Lys862Glu
  • NP_001394549.1:p.Lys862Glu
  • NP_001394550.1:p.Lys862Glu
  • NP_001394551.1:p.Lys862Glu
  • NP_001394552.1:p.Lys862Glu
  • NP_001394553.1:p.Lys862Glu
  • NP_001394554.1:p.Lys862Glu
  • NP_001394555.1:p.Lys862Glu
  • NP_001394556.1:p.Lys861Glu
  • NP_001394557.1:p.Lys861Glu
  • NP_001394558.1:p.Lys861Glu
  • NP_001394559.1:p.Lys861Glu
  • NP_001394560.1:p.Lys861Glu
  • NP_001394561.1:p.Lys861Glu
  • NP_001394562.1:p.Lys861Glu
  • NP_001394563.1:p.Lys861Glu
  • NP_001394564.1:p.Lys861Glu
  • NP_001394565.1:p.Lys861Glu
  • NP_001394566.1:p.Lys861Glu
  • NP_001394567.1:p.Lys861Glu
  • NP_001394568.1:p.Lys862Glu
  • NP_001394569.1:p.Lys862Glu
  • NP_001394570.1:p.Lys862Glu
  • NP_001394571.1:p.Lys862Glu
  • NP_001394573.1:p.Lys861Glu
  • NP_001394574.1:p.Lys861Glu
  • NP_001394575.1:p.Lys859Glu
  • NP_001394576.1:p.Lys859Glu
  • NP_001394577.1:p.Lys821Glu
  • NP_001394578.1:p.Lys820Glu
  • NP_001394581.1:p.Lys862Glu
  • NP_001394582.1:p.Lys836Glu
  • NP_001394583.1:p.Lys836Glu
  • NP_001394584.1:p.Lys836Glu
  • NP_001394585.1:p.Lys836Glu
  • NP_001394586.1:p.Lys836Glu
  • NP_001394587.1:p.Lys836Glu
  • NP_001394588.1:p.Lys835Glu
  • NP_001394589.1:p.Lys835Glu
  • NP_001394590.1:p.Lys835Glu
  • NP_001394591.1:p.Lys835Glu
  • NP_001394592.1:p.Lys836Glu
  • NP_001394593.1:p.Lys821Glu
  • NP_001394594.1:p.Lys821Glu
  • NP_001394595.1:p.Lys821Glu
  • NP_001394596.1:p.Lys821Glu
  • NP_001394597.1:p.Lys821Glu
  • NP_001394598.1:p.Lys821Glu
  • NP_001394599.1:p.Lys820Glu
  • NP_001394600.1:p.Lys820Glu
  • NP_001394601.1:p.Lys820Glu
  • NP_001394602.1:p.Lys820Glu
  • NP_001394603.1:p.Lys821Glu
  • NP_001394604.1:p.Lys821Glu
  • NP_001394605.1:p.Lys821Glu
  • NP_001394606.1:p.Lys821Glu
  • NP_001394607.1:p.Lys821Glu
  • NP_001394608.1:p.Lys821Glu
  • NP_001394609.1:p.Lys821Glu
  • NP_001394610.1:p.Lys821Glu
  • NP_001394611.1:p.Lys821Glu
  • NP_001394612.1:p.Lys821Glu
  • NP_001394613.1:p.Lys862Glu
  • NP_001394614.1:p.Lys820Glu
  • NP_001394615.1:p.Lys820Glu
  • NP_001394616.1:p.Lys820Glu
  • NP_001394617.1:p.Lys820Glu
  • NP_001394618.1:p.Lys820Glu
  • NP_001394619.1:p.Lys820Glu
  • NP_001394620.1:p.Lys820Glu
  • NP_001394621.1:p.Lys815Glu
  • NP_001394623.1:p.Lys815Glu
  • NP_001394624.1:p.Lys815Glu
  • NP_001394625.1:p.Lys815Glu
  • NP_001394626.1:p.Lys815Glu
  • NP_001394627.1:p.Lys815Glu
  • NP_001394653.1:p.Lys815Glu
  • NP_001394654.1:p.Lys815Glu
  • NP_001394655.1:p.Lys815Glu
  • NP_001394656.1:p.Lys815Glu
  • NP_001394657.1:p.Lys815Glu
  • NP_001394658.1:p.Lys815Glu
  • NP_001394659.1:p.Lys815Glu
  • NP_001394660.1:p.Lys815Glu
  • NP_001394661.1:p.Lys815Glu
  • NP_001394662.1:p.Lys815Glu
  • NP_001394663.1:p.Lys815Glu
  • NP_001394664.1:p.Lys815Glu
  • NP_001394665.1:p.Lys815Glu
  • NP_001394666.1:p.Lys815Glu
  • NP_001394667.1:p.Lys815Glu
  • NP_001394668.1:p.Lys815Glu
  • NP_001394669.1:p.Lys814Glu
  • NP_001394670.1:p.Lys814Glu
  • NP_001394671.1:p.Lys814Glu
  • NP_001394672.1:p.Lys814Glu
  • NP_001394673.1:p.Lys814Glu
  • NP_001394674.1:p.Lys814Glu
  • NP_001394675.1:p.Lys814Glu
  • NP_001394676.1:p.Lys814Glu
  • NP_001394677.1:p.Lys814Glu
  • NP_001394678.1:p.Lys814Glu
  • NP_001394679.1:p.Lys815Glu
  • NP_001394680.1:p.Lys815Glu
  • NP_001394681.1:p.Lys815Glu
  • NP_001394767.1:p.Lys814Glu
  • NP_001394768.1:p.Lys814Glu
  • NP_001394770.1:p.Lys814Glu
  • NP_001394771.1:p.Lys814Glu
  • NP_001394772.1:p.Lys814Glu
  • NP_001394773.1:p.Lys814Glu
  • NP_001394774.1:p.Lys814Glu
  • NP_001394775.1:p.Lys814Glu
  • NP_001394776.1:p.Lys814Glu
  • NP_001394777.1:p.Lys814Glu
  • NP_001394778.1:p.Lys814Glu
  • NP_001394779.1:p.Lys815Glu
  • NP_001394780.1:p.Lys815Glu
  • NP_001394781.1:p.Lys815Glu
  • NP_001394782.1:p.Lys791Glu
  • NP_001394783.1:p.Lys862Glu
  • NP_001394787.1:p.Lys862Glu
  • NP_001394788.1:p.Lys862Glu
  • NP_001394789.1:p.Lys861Glu
  • NP_001394790.1:p.Lys861Glu
  • NP_001394791.1:p.Lys795Glu
  • NP_001394792.1:p.Lys821Glu
  • NP_001394803.1:p.Lys794Glu
  • NP_001394804.1:p.Lys794Glu
  • NP_001394808.1:p.Lys792Glu
  • NP_001394810.1:p.Lys792Glu
  • NP_001394811.1:p.Lys792Glu
  • NP_001394813.1:p.Lys792Glu
  • NP_001394814.1:p.Lys792Glu
  • NP_001394815.1:p.Lys792Glu
  • NP_001394816.1:p.Lys792Glu
  • NP_001394818.1:p.Lys792Glu
  • NP_001394823.1:p.Lys791Glu
  • NP_001394824.1:p.Lys791Glu
  • NP_001394825.1:p.Lys791Glu
  • NP_001394826.1:p.Lys791Glu
  • NP_001394827.1:p.Lys791Glu
  • NP_001394828.1:p.Lys791Glu
  • NP_001394829.1:p.Lys792Glu
  • NP_001394831.1:p.Lys792Glu
  • NP_001394833.1:p.Lys792Glu
  • NP_001394835.1:p.Lys792Glu
  • NP_001394836.1:p.Lys792Glu
  • NP_001394837.1:p.Lys792Glu
  • NP_001394838.1:p.Lys792Glu
  • NP_001394839.1:p.Lys792Glu
  • NP_001394844.1:p.Lys791Glu
  • NP_001394845.1:p.Lys791Glu
  • NP_001394846.1:p.Lys791Glu
  • NP_001394847.1:p.Lys791Glu
  • NP_001394848.1:p.Lys821Glu
  • NP_001394849.1:p.Lys774Glu
  • NP_001394850.1:p.Lys774Glu
  • NP_001394851.1:p.Lys774Glu
  • NP_001394852.1:p.Lys774Glu
  • NP_001394853.1:p.Lys774Glu
  • NP_001394854.1:p.Lys774Glu
  • NP_001394855.1:p.Lys774Glu
  • NP_001394856.1:p.Lys774Glu
  • NP_001394857.1:p.Lys774Glu
  • NP_001394858.1:p.Lys774Glu
  • NP_001394859.1:p.Lys773Glu
  • NP_001394860.1:p.Lys773Glu
  • NP_001394861.1:p.Lys773Glu
  • NP_001394862.1:p.Lys774Glu
  • NP_001394863.1:p.Lys773Glu
  • NP_001394864.1:p.Lys774Glu
  • NP_001394865.1:p.Lys773Glu
  • NP_001394866.1:p.Lys821Glu
  • NP_001394867.1:p.Lys821Glu
  • NP_001394868.1:p.Lys821Glu
  • NP_001394869.1:p.Lys820Glu
  • NP_001394870.1:p.Lys820Glu
  • NP_001394871.1:p.Lys815Glu
  • NP_001394872.1:p.Lys814Glu
  • NP_001394873.1:p.Lys815Glu
  • NP_001394874.1:p.Lys815Glu
  • NP_001394875.1:p.Lys751Glu
  • NP_001394876.1:p.Lys751Glu
  • NP_001394877.1:p.Lys751Glu
  • NP_001394878.1:p.Lys751Glu
  • NP_001394879.1:p.Lys751Glu
  • NP_001394880.1:p.Lys751Glu
  • NP_001394881.1:p.Lys751Glu
  • NP_001394882.1:p.Lys751Glu
  • NP_001394883.1:p.Lys750Glu
  • NP_001394884.1:p.Lys750Glu
  • NP_001394885.1:p.Lys750Glu
  • NP_001394886.1:p.Lys751Glu
  • NP_001394887.1:p.Lys750Glu
  • NP_001394888.1:p.Lys735Glu
  • NP_001394889.1:p.Lys735Glu
  • NP_001394891.1:p.Lys734Glu
  • NP_001394892.1:p.Lys735Glu
  • NP_001394893.1:p.Lys814Glu
  • NP_001394894.1:p.Lys694Glu
  • NP_001394895.1:p.Lys566Glu
  • NP_001394896.1:p.Lys566Glu
  • NP_009225.1:p.Lys862Glu
  • NP_009225.1:p.Lys862Glu
  • NP_009228.2:p.Lys815Glu
  • NP_009231.2:p.Lys862Glu
  • LRG_292t1:c.2584A>G
  • LRG_292:g.125037A>G
  • LRG_292p1:p.Lys862Glu
  • NC_000017.10:g.41244964T>C
  • NM_007294.3:c.2584A>G
  • NR_027676.1:n.2720A>G
  • U14680.1:n.2703A>G
  • p.K862E
Nucleotide change:
2703A>G
Protein change:
K566E
Links:
BRCA1-HCI: BRCA1_00071; dbSNP: rs80356927
NCBI 1000 Genomes Browser:
rs80356927
Molecular consequence:
  • NM_001407968.1:c.788-808A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-808A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1794A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1915A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1797A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2575A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2575A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2503A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2503A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2503A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2503A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2581A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2383A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2380A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2380A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2374A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2320A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2461A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2251A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2200A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2203A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1696A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1696A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2584A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001553513Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

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no assertion criteria provided
Likely benignunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001553513.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 p.Lys862Glu variant was identified in 8 of 111260 proband chromosomes (frequency: 0.00007) from individuals or families with breast cancer (Judkins 2005). The variant was also identified in dbSNP (ID: rs80356927) as “With Likely benign allele”, Clinvitae database (classified as benign by ClinVar; classified as likely benign by ClinVar, Invitae), Fanconi Anemia Mutation Database (LOVD), ARUP Laboratories BRCA Mutations Database (classified as not pathogenic or of no clinical significance), the ClinVar database (classified as benign by ENIGMA, Ambry genetics, SCRP; classified as likely benign by Invitae, GeneDx; classified as uncertain significance by BIC), the BIC database (5x with unknown clinical importance), and UMD (12x with a “likely neutral” classification). This variant was identified in the Exome Aggregation Consortium database (August 8th 2016) in 12 of 121328 chromosomes (freq. 0.0001) in the following populations: European in 8 of 66696 chromosomes (freq. 0.0001), Asian in 3 of 16502 chromosomes (freq. 0.0002), Finnish in 1 of 6614 chromosomes (freq. 0.0002), but was not seen in African, Latino and Other populations. The p.Lys862 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant was also classified as neutral with odds in favor of neutrality 2059 in a study utilizing evidence of co-occurrence with a pathogenic variant, family history and if available segregation of the variant with disease (Easton 2007). The variant was also found to have a probability of being deleterious of 9.91×10−6 in a similar study (Lindor 2012). In addition, a study by Burk-Herrick (2005) found the variant has no effect by analyzing 19 marsupials and 94 eutherian mammal sequences, which were used to rank oncogenic risk of missence mutations based on conservation. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024