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NM_007294.4(BRCA1):c.3205del (p.Gln1069fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 6, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000461689.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)]

NM_007294.4(BRCA1):c.3205del (p.Gln1069fs)

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.3205del (p.Gln1069fs)
Other names:
3324delC
HGVS:
  • NC_000017.11:g.43092326del
  • NG_005905.2:g.125658del
  • NG_087068.1:g.1308del
  • NM_001407571.1:c.2992del
  • NM_001407581.1:c.3205del
  • NM_001407582.1:c.3205del
  • NM_001407583.1:c.3205del
  • NM_001407585.1:c.3205del
  • NM_001407587.1:c.3202del
  • NM_001407590.1:c.3202del
  • NM_001407591.1:c.3202del
  • NM_001407593.1:c.3205del
  • NM_001407594.1:c.3205del
  • NM_001407596.1:c.3205del
  • NM_001407597.1:c.3205del
  • NM_001407598.1:c.3205del
  • NM_001407602.1:c.3205del
  • NM_001407603.1:c.3205del
  • NM_001407605.1:c.3205del
  • NM_001407610.1:c.3202del
  • NM_001407611.1:c.3202del
  • NM_001407612.1:c.3202del
  • NM_001407613.1:c.3202del
  • NM_001407614.1:c.3202del
  • NM_001407615.1:c.3202del
  • NM_001407616.1:c.3205del
  • NM_001407617.1:c.3205del
  • NM_001407618.1:c.3205del
  • NM_001407619.1:c.3205del
  • NM_001407620.1:c.3205del
  • NM_001407621.1:c.3205del
  • NM_001407622.1:c.3205del
  • NM_001407623.1:c.3205del
  • NM_001407624.1:c.3205del
  • NM_001407625.1:c.3205del
  • NM_001407626.1:c.3205del
  • NM_001407627.1:c.3202del
  • NM_001407628.1:c.3202del
  • NM_001407629.1:c.3202del
  • NM_001407630.1:c.3202del
  • NM_001407631.1:c.3202del
  • NM_001407632.1:c.3202del
  • NM_001407633.1:c.3202del
  • NM_001407634.1:c.3202del
  • NM_001407635.1:c.3202del
  • NM_001407636.1:c.3202del
  • NM_001407637.1:c.3202del
  • NM_001407638.1:c.3202del
  • NM_001407639.1:c.3205del
  • NM_001407640.1:c.3205del
  • NM_001407641.1:c.3205del
  • NM_001407642.1:c.3205del
  • NM_001407644.1:c.3202del
  • NM_001407645.1:c.3202del
  • NM_001407646.1:c.3196del
  • NM_001407647.1:c.3196del
  • NM_001407648.1:c.3082del
  • NM_001407649.1:c.3079del
  • NM_001407652.1:c.3205del
  • NM_001407653.1:c.3127del
  • NM_001407654.1:c.3127del
  • NM_001407655.1:c.3127del
  • NM_001407656.1:c.3127del
  • NM_001407657.1:c.3127del
  • NM_001407658.1:c.3127del
  • NM_001407659.1:c.3124del
  • NM_001407660.1:c.3124del
  • NM_001407661.1:c.3124del
  • NM_001407662.1:c.3124del
  • NM_001407663.1:c.3127del
  • NM_001407664.1:c.3082del
  • NM_001407665.1:c.3082del
  • NM_001407666.1:c.3082del
  • NM_001407667.1:c.3082del
  • NM_001407668.1:c.3082del
  • NM_001407669.1:c.3082del
  • NM_001407670.1:c.3079del
  • NM_001407671.1:c.3079del
  • NM_001407672.1:c.3079del
  • NM_001407673.1:c.3079del
  • NM_001407674.1:c.3082del
  • NM_001407675.1:c.3082del
  • NM_001407676.1:c.3082del
  • NM_001407677.1:c.3082del
  • NM_001407678.1:c.3082del
  • NM_001407679.1:c.3082del
  • NM_001407680.1:c.3082del
  • NM_001407681.1:c.3082del
  • NM_001407682.1:c.3082del
  • NM_001407683.1:c.3082del
  • NM_001407684.1:c.3205del
  • NM_001407685.1:c.3079del
  • NM_001407686.1:c.3079del
  • NM_001407687.1:c.3079del
  • NM_001407688.1:c.3079del
  • NM_001407689.1:c.3079del
  • NM_001407690.1:c.3079del
  • NM_001407691.1:c.3079del
  • NM_001407692.1:c.3064del
  • NM_001407694.1:c.3064del
  • NM_001407695.1:c.3064del
  • NM_001407696.1:c.3064del
  • NM_001407697.1:c.3064del
  • NM_001407698.1:c.3064del
  • NM_001407724.1:c.3064del
  • NM_001407725.1:c.3064del
  • NM_001407726.1:c.3064del
  • NM_001407727.1:c.3064del
  • NM_001407728.1:c.3064del
  • NM_001407729.1:c.3064del
  • NM_001407730.1:c.3064del
  • NM_001407731.1:c.3064del
  • NM_001407732.1:c.3064del
  • NM_001407733.1:c.3064del
  • NM_001407734.1:c.3064del
  • NM_001407735.1:c.3064del
  • NM_001407736.1:c.3064del
  • NM_001407737.1:c.3064del
  • NM_001407738.1:c.3064del
  • NM_001407739.1:c.3064del
  • NM_001407740.1:c.3061del
  • NM_001407741.1:c.3061del
  • NM_001407742.1:c.3061del
  • NM_001407743.1:c.3061del
  • NM_001407744.1:c.3061del
  • NM_001407745.1:c.3061del
  • NM_001407746.1:c.3061del
  • NM_001407747.1:c.3061del
  • NM_001407748.1:c.3061del
  • NM_001407749.1:c.3061del
  • NM_001407750.1:c.3064del
  • NM_001407751.1:c.3064del
  • NM_001407752.1:c.3064del
  • NM_001407838.1:c.3061del
  • NM_001407839.1:c.3061del
  • NM_001407841.1:c.3061del
  • NM_001407842.1:c.3061del
  • NM_001407843.1:c.3061del
  • NM_001407844.1:c.3061del
  • NM_001407845.1:c.3061del
  • NM_001407846.1:c.3061del
  • NM_001407847.1:c.3061del
  • NM_001407848.1:c.3061del
  • NM_001407849.1:c.3061del
  • NM_001407850.1:c.3064del
  • NM_001407851.1:c.3064del
  • NM_001407852.1:c.3064del
  • NM_001407853.1:c.2992del
  • NM_001407854.1:c.3205del
  • NM_001407858.1:c.3205del
  • NM_001407859.1:c.3205del
  • NM_001407860.1:c.3202del
  • NM_001407861.1:c.3202del
  • NM_001407862.1:c.3004del
  • NM_001407863.1:c.3082del
  • NM_001407874.1:c.3001del
  • NM_001407875.1:c.3001del
  • NM_001407879.1:c.2995del
  • NM_001407881.1:c.2995del
  • NM_001407882.1:c.2995del
  • NM_001407884.1:c.2995del
  • NM_001407885.1:c.2995del
  • NM_001407886.1:c.2995del
  • NM_001407887.1:c.2995del
  • NM_001407889.1:c.2995del
  • NM_001407894.1:c.2992del
  • NM_001407895.1:c.2992del
  • NM_001407896.1:c.2992del
  • NM_001407897.1:c.2992del
  • NM_001407898.1:c.2992del
  • NM_001407899.1:c.2992del
  • NM_001407900.1:c.2995del
  • NM_001407902.1:c.2995del
  • NM_001407904.1:c.2995del
  • NM_001407906.1:c.2995del
  • NM_001407907.1:c.2995del
  • NM_001407908.1:c.2995del
  • NM_001407909.1:c.2995del
  • NM_001407910.1:c.2995del
  • NM_001407915.1:c.2992del
  • NM_001407916.1:c.2992del
  • NM_001407917.1:c.2992del
  • NM_001407918.1:c.2992del
  • NM_001407919.1:c.3082del
  • NM_001407920.1:c.2941del
  • NM_001407921.1:c.2941del
  • NM_001407922.1:c.2941del
  • NM_001407923.1:c.2941del
  • NM_001407924.1:c.2941del
  • NM_001407925.1:c.2941del
  • NM_001407926.1:c.2941del
  • NM_001407927.1:c.2941del
  • NM_001407928.1:c.2941del
  • NM_001407929.1:c.2941del
  • NM_001407930.1:c.2938del
  • NM_001407931.1:c.2938del
  • NM_001407932.1:c.2938del
  • NM_001407933.1:c.2941del
  • NM_001407934.1:c.2938del
  • NM_001407935.1:c.2941del
  • NM_001407936.1:c.2938del
  • NM_001407937.1:c.3082del
  • NM_001407938.1:c.3082del
  • NM_001407939.1:c.3082del
  • NM_001407940.1:c.3079del
  • NM_001407941.1:c.3079del
  • NM_001407942.1:c.3064del
  • NM_001407943.1:c.3061del
  • NM_001407944.1:c.3064del
  • NM_001407945.1:c.3064del
  • NM_001407946.1:c.2872del
  • NM_001407947.1:c.2872del
  • NM_001407948.1:c.2872del
  • NM_001407949.1:c.2872del
  • NM_001407950.1:c.2872del
  • NM_001407951.1:c.2872del
  • NM_001407952.1:c.2872del
  • NM_001407953.1:c.2872del
  • NM_001407954.1:c.2869del
  • NM_001407955.1:c.2869del
  • NM_001407956.1:c.2869del
  • NM_001407957.1:c.2872del
  • NM_001407958.1:c.2869del
  • NM_001407959.1:c.2824del
  • NM_001407960.1:c.2824del
  • NM_001407962.1:c.2821del
  • NM_001407963.1:c.2824del
  • NM_001407964.1:c.3061del
  • NM_001407965.1:c.2701del
  • NM_001407966.1:c.2317del
  • NM_001407967.1:c.2317del
  • NM_001407968.1:c.788-187del
  • NM_001407969.1:c.788-187del
  • NM_001407970.1:c.788-1294del
  • NM_001407971.1:c.788-1294del
  • NM_001407972.1:c.785-1294del
  • NM_001407973.1:c.788-1294del
  • NM_001407974.1:c.788-1294del
  • NM_001407975.1:c.788-1294del
  • NM_001407976.1:c.788-1294del
  • NM_001407977.1:c.788-1294del
  • NM_001407978.1:c.788-1294del
  • NM_001407979.1:c.788-1294del
  • NM_001407980.1:c.788-1294del
  • NM_001407981.1:c.788-1294del
  • NM_001407982.1:c.788-1294del
  • NM_001407983.1:c.788-1294del
  • NM_001407984.1:c.785-1294del
  • NM_001407985.1:c.785-1294del
  • NM_001407986.1:c.785-1294del
  • NM_001407990.1:c.788-1294del
  • NM_001407991.1:c.785-1294del
  • NM_001407992.1:c.785-1294del
  • NM_001407993.1:c.788-1294del
  • NM_001408392.1:c.785-1294del
  • NM_001408396.1:c.785-1294del
  • NM_001408397.1:c.785-1294del
  • NM_001408398.1:c.785-1294del
  • NM_001408399.1:c.785-1294del
  • NM_001408400.1:c.785-1294del
  • NM_001408401.1:c.785-1294del
  • NM_001408402.1:c.785-1294del
  • NM_001408403.1:c.788-1294del
  • NM_001408404.1:c.788-1294del
  • NM_001408406.1:c.791-1303del
  • NM_001408407.1:c.785-1294del
  • NM_001408408.1:c.779-1294del
  • NM_001408409.1:c.710-1294del
  • NM_001408410.1:c.647-1294del
  • NM_001408411.1:c.710-1294del
  • NM_001408412.1:c.710-1294del
  • NM_001408413.1:c.707-1294del
  • NM_001408414.1:c.710-1294del
  • NM_001408415.1:c.710-1294del
  • NM_001408416.1:c.707-1294del
  • NM_001408418.1:c.671-1294del
  • NM_001408419.1:c.671-1294del
  • NM_001408420.1:c.671-1294del
  • NM_001408421.1:c.668-1294del
  • NM_001408422.1:c.671-1294del
  • NM_001408423.1:c.671-1294del
  • NM_001408424.1:c.668-1294del
  • NM_001408425.1:c.665-1294del
  • NM_001408426.1:c.665-1294del
  • NM_001408427.1:c.665-1294del
  • NM_001408428.1:c.665-1294del
  • NM_001408429.1:c.665-1294del
  • NM_001408430.1:c.665-1294del
  • NM_001408431.1:c.668-1294del
  • NM_001408432.1:c.662-1294del
  • NM_001408433.1:c.662-1294del
  • NM_001408434.1:c.662-1294del
  • NM_001408435.1:c.662-1294del
  • NM_001408436.1:c.665-1294del
  • NM_001408437.1:c.665-1294del
  • NM_001408438.1:c.665-1294del
  • NM_001408439.1:c.665-1294del
  • NM_001408440.1:c.665-1294del
  • NM_001408441.1:c.665-1294del
  • NM_001408442.1:c.665-1294del
  • NM_001408443.1:c.665-1294del
  • NM_001408444.1:c.665-1294del
  • NM_001408445.1:c.662-1294del
  • NM_001408446.1:c.662-1294del
  • NM_001408447.1:c.662-1294del
  • NM_001408448.1:c.662-1294del
  • NM_001408450.1:c.662-1294del
  • NM_001408451.1:c.653-1294del
  • NM_001408452.1:c.647-1294del
  • NM_001408453.1:c.647-1294del
  • NM_001408454.1:c.647-1294del
  • NM_001408455.1:c.647-1294del
  • NM_001408456.1:c.647-1294del
  • NM_001408457.1:c.647-1294del
  • NM_001408458.1:c.647-1294del
  • NM_001408459.1:c.647-1294del
  • NM_001408460.1:c.647-1294del
  • NM_001408461.1:c.647-1294del
  • NM_001408462.1:c.644-1294del
  • NM_001408463.1:c.644-1294del
  • NM_001408464.1:c.644-1294del
  • NM_001408465.1:c.644-1294del
  • NM_001408466.1:c.647-1294del
  • NM_001408467.1:c.647-1294del
  • NM_001408468.1:c.644-1294del
  • NM_001408469.1:c.647-1294del
  • NM_001408470.1:c.644-1294del
  • NM_001408472.1:c.788-1294del
  • NM_001408473.1:c.785-1294del
  • NM_001408474.1:c.587-1294del
  • NM_001408475.1:c.584-1294del
  • NM_001408476.1:c.587-1294del
  • NM_001408478.1:c.578-1294del
  • NM_001408479.1:c.578-1294del
  • NM_001408480.1:c.578-1294del
  • NM_001408481.1:c.578-1294del
  • NM_001408482.1:c.578-1294del
  • NM_001408483.1:c.578-1294del
  • NM_001408484.1:c.578-1294del
  • NM_001408485.1:c.578-1294del
  • NM_001408489.1:c.578-1294del
  • NM_001408490.1:c.575-1294del
  • NM_001408491.1:c.575-1294del
  • NM_001408492.1:c.578-1294del
  • NM_001408493.1:c.575-1294del
  • NM_001408494.1:c.548-1294del
  • NM_001408495.1:c.545-1294del
  • NM_001408496.1:c.524-1294del
  • NM_001408497.1:c.524-1294del
  • NM_001408498.1:c.524-1294del
  • NM_001408499.1:c.524-1294del
  • NM_001408500.1:c.524-1294del
  • NM_001408501.1:c.524-1294del
  • NM_001408502.1:c.455-1294del
  • NM_001408503.1:c.521-1294del
  • NM_001408504.1:c.521-1294del
  • NM_001408505.1:c.521-1294del
  • NM_001408506.1:c.461-1294del
  • NM_001408507.1:c.461-1294del
  • NM_001408508.1:c.452-1294del
  • NM_001408509.1:c.452-1294del
  • NM_001408510.1:c.407-1294del
  • NM_001408511.1:c.404-1294del
  • NM_001408512.1:c.284-1294del
  • NM_001408513.1:c.578-1294del
  • NM_001408514.1:c.578-1294del
  • NM_007294.4:c.3205delMANE SELECT
  • NM_007297.4:c.3064del
  • NM_007298.4:c.788-1294del
  • NM_007299.4:c.788-1294del
  • NM_007300.4:c.3205del
  • NP_001394500.1:p.Gln998fs
  • NP_001394510.1:p.Gln1069fs
  • NP_001394511.1:p.Gln1069fs
  • NP_001394512.1:p.Gln1069fs
  • NP_001394514.1:p.Gln1069fs
  • NP_001394516.1:p.Gln1068fs
  • NP_001394519.1:p.Gln1068fs
  • NP_001394520.1:p.Gln1068fs
  • NP_001394522.1:p.Gln1069fs
  • NP_001394523.1:p.Gln1069fs
  • NP_001394525.1:p.Gln1069fs
  • NP_001394526.1:p.Gln1069fs
  • NP_001394527.1:p.Gln1069fs
  • NP_001394531.1:p.Gln1069fs
  • NP_001394532.1:p.Gln1069fs
  • NP_001394534.1:p.Gln1069fs
  • NP_001394539.1:p.Gln1068fs
  • NP_001394540.1:p.Gln1068fs
  • NP_001394541.1:p.Gln1068fs
  • NP_001394542.1:p.Gln1068fs
  • NP_001394543.1:p.Gln1068fs
  • NP_001394544.1:p.Gln1068fs
  • NP_001394545.1:p.Gln1069fs
  • NP_001394546.1:p.Gln1069fs
  • NP_001394547.1:p.Gln1069fs
  • NP_001394548.1:p.Gln1069fs
  • NP_001394549.1:p.Gln1069fs
  • NP_001394550.1:p.Gln1069fs
  • NP_001394551.1:p.Gln1069fs
  • NP_001394552.1:p.Gln1069fs
  • NP_001394553.1:p.Gln1069fs
  • NP_001394554.1:p.Gln1069fs
  • NP_001394555.1:p.Gln1069fs
  • NP_001394556.1:p.Gln1068fs
  • NP_001394557.1:p.Gln1068fs
  • NP_001394558.1:p.Gln1068fs
  • NP_001394559.1:p.Gln1068fs
  • NP_001394560.1:p.Gln1068fs
  • NP_001394561.1:p.Gln1068fs
  • NP_001394562.1:p.Gln1068fs
  • NP_001394563.1:p.Gln1068fs
  • NP_001394564.1:p.Gln1068fs
  • NP_001394565.1:p.Gln1068fs
  • NP_001394566.1:p.Gln1068fs
  • NP_001394567.1:p.Gln1068fs
  • NP_001394568.1:p.Gln1069fs
  • NP_001394569.1:p.Gln1069fs
  • NP_001394570.1:p.Gln1069fs
  • NP_001394571.1:p.Gln1069fs
  • NP_001394573.1:p.Gln1068fs
  • NP_001394574.1:p.Gln1068fs
  • NP_001394575.1:p.Gln1066fs
  • NP_001394576.1:p.Gln1066fs
  • NP_001394577.1:p.Gln1028fs
  • NP_001394578.1:p.Gln1027fs
  • NP_001394581.1:p.Gln1069fs
  • NP_001394582.1:p.Gln1043fs
  • NP_001394583.1:p.Gln1043fs
  • NP_001394584.1:p.Gln1043fs
  • NP_001394585.1:p.Gln1043fs
  • NP_001394586.1:p.Gln1043fs
  • NP_001394587.1:p.Gln1043fs
  • NP_001394588.1:p.Gln1042fs
  • NP_001394589.1:p.Gln1042fs
  • NP_001394590.1:p.Gln1042fs
  • NP_001394591.1:p.Gln1042fs
  • NP_001394592.1:p.Gln1043fs
  • NP_001394593.1:p.Gln1028fs
  • NP_001394594.1:p.Gln1028fs
  • NP_001394595.1:p.Gln1028fs
  • NP_001394596.1:p.Gln1028fs
  • NP_001394597.1:p.Gln1028fs
  • NP_001394598.1:p.Gln1028fs
  • NP_001394599.1:p.Gln1027fs
  • NP_001394600.1:p.Gln1027fs
  • NP_001394601.1:p.Gln1027fs
  • NP_001394602.1:p.Gln1027fs
  • NP_001394603.1:p.Gln1028fs
  • NP_001394604.1:p.Gln1028fs
  • NP_001394605.1:p.Gln1028fs
  • NP_001394606.1:p.Gln1028fs
  • NP_001394607.1:p.Gln1028fs
  • NP_001394608.1:p.Gln1028fs
  • NP_001394609.1:p.Gln1028fs
  • NP_001394610.1:p.Gln1028fs
  • NP_001394611.1:p.Gln1028fs
  • NP_001394612.1:p.Gln1028fs
  • NP_001394613.1:p.Gln1069fs
  • NP_001394614.1:p.Gln1027fs
  • NP_001394615.1:p.Gln1027fs
  • NP_001394616.1:p.Gln1027fs
  • NP_001394617.1:p.Gln1027fs
  • NP_001394618.1:p.Gln1027fs
  • NP_001394619.1:p.Gln1027fs
  • NP_001394620.1:p.Gln1027fs
  • NP_001394621.1:p.Gln1022fs
  • NP_001394623.1:p.Gln1022fs
  • NP_001394624.1:p.Gln1022fs
  • NP_001394625.1:p.Gln1022fs
  • NP_001394626.1:p.Gln1022fs
  • NP_001394627.1:p.Gln1022fs
  • NP_001394653.1:p.Gln1022fs
  • NP_001394654.1:p.Gln1022fs
  • NP_001394655.1:p.Gln1022fs
  • NP_001394656.1:p.Gln1022fs
  • NP_001394657.1:p.Gln1022fs
  • NP_001394658.1:p.Gln1022fs
  • NP_001394659.1:p.Gln1022fs
  • NP_001394660.1:p.Gln1022fs
  • NP_001394661.1:p.Gln1022fs
  • NP_001394662.1:p.Gln1022fs
  • NP_001394663.1:p.Gln1022fs
  • NP_001394664.1:p.Gln1022fs
  • NP_001394665.1:p.Gln1022fs
  • NP_001394666.1:p.Gln1022fs
  • NP_001394667.1:p.Gln1022fs
  • NP_001394668.1:p.Gln1022fs
  • NP_001394669.1:p.Gln1021fs
  • NP_001394670.1:p.Gln1021fs
  • NP_001394671.1:p.Gln1021fs
  • NP_001394672.1:p.Gln1021fs
  • NP_001394673.1:p.Gln1021fs
  • NP_001394674.1:p.Gln1021fs
  • NP_001394675.1:p.Gln1021fs
  • NP_001394676.1:p.Gln1021fs
  • NP_001394677.1:p.Gln1021fs
  • NP_001394678.1:p.Gln1021fs
  • NP_001394679.1:p.Gln1022fs
  • NP_001394680.1:p.Gln1022fs
  • NP_001394681.1:p.Gln1022fs
  • NP_001394767.1:p.Gln1021fs
  • NP_001394768.1:p.Gln1021fs
  • NP_001394770.1:p.Gln1021fs
  • NP_001394771.1:p.Gln1021fs
  • NP_001394772.1:p.Gln1021fs
  • NP_001394773.1:p.Gln1021fs
  • NP_001394774.1:p.Gln1021fs
  • NP_001394775.1:p.Gln1021fs
  • NP_001394776.1:p.Gln1021fs
  • NP_001394777.1:p.Gln1021fs
  • NP_001394778.1:p.Gln1021fs
  • NP_001394779.1:p.Gln1022fs
  • NP_001394780.1:p.Gln1022fs
  • NP_001394781.1:p.Gln1022fs
  • NP_001394782.1:p.Gln998fs
  • NP_001394783.1:p.Gln1069fs
  • NP_001394787.1:p.Gln1069fs
  • NP_001394788.1:p.Gln1069fs
  • NP_001394789.1:p.Gln1068fs
  • NP_001394790.1:p.Gln1068fs
  • NP_001394791.1:p.Gln1002fs
  • NP_001394792.1:p.Gln1028fs
  • NP_001394803.1:p.Gln1001fs
  • NP_001394804.1:p.Gln1001fs
  • NP_001394808.1:p.Gln999fs
  • NP_001394810.1:p.Gln999fs
  • NP_001394811.1:p.Gln999fs
  • NP_001394813.1:p.Gln999fs
  • NP_001394814.1:p.Gln999fs
  • NP_001394815.1:p.Gln999fs
  • NP_001394816.1:p.Gln999fs
  • NP_001394818.1:p.Gln999fs
  • NP_001394823.1:p.Gln998fs
  • NP_001394824.1:p.Gln998fs
  • NP_001394825.1:p.Gln998fs
  • NP_001394826.1:p.Gln998fs
  • NP_001394827.1:p.Gln998fs
  • NP_001394828.1:p.Gln998fs
  • NP_001394829.1:p.Gln999fs
  • NP_001394831.1:p.Gln999fs
  • NP_001394833.1:p.Gln999fs
  • NP_001394835.1:p.Gln999fs
  • NP_001394836.1:p.Gln999fs
  • NP_001394837.1:p.Gln999fs
  • NP_001394838.1:p.Gln999fs
  • NP_001394839.1:p.Gln999fs
  • NP_001394844.1:p.Gln998fs
  • NP_001394845.1:p.Gln998fs
  • NP_001394846.1:p.Gln998fs
  • NP_001394847.1:p.Gln998fs
  • NP_001394848.1:p.Gln1028fs
  • NP_001394849.1:p.Gln981fs
  • NP_001394850.1:p.Gln981fs
  • NP_001394851.1:p.Gln981fs
  • NP_001394852.1:p.Gln981fs
  • NP_001394853.1:p.Gln981fs
  • NP_001394854.1:p.Gln981fs
  • NP_001394855.1:p.Gln981fs
  • NP_001394856.1:p.Gln981fs
  • NP_001394857.1:p.Gln981fs
  • NP_001394858.1:p.Gln981fs
  • NP_001394859.1:p.Gln980fs
  • NP_001394860.1:p.Gln980fs
  • NP_001394861.1:p.Gln980fs
  • NP_001394862.1:p.Gln981fs
  • NP_001394863.1:p.Gln980fs
  • NP_001394864.1:p.Gln981fs
  • NP_001394865.1:p.Gln980fs
  • NP_001394866.1:p.Gln1028fs
  • NP_001394867.1:p.Gln1028fs
  • NP_001394868.1:p.Gln1028fs
  • NP_001394869.1:p.Gln1027fs
  • NP_001394870.1:p.Gln1027fs
  • NP_001394871.1:p.Gln1022fs
  • NP_001394872.1:p.Gln1021fs
  • NP_001394873.1:p.Gln1022fs
  • NP_001394874.1:p.Gln1022fs
  • NP_001394875.1:p.Gln958fs
  • NP_001394876.1:p.Gln958fs
  • NP_001394877.1:p.Gln958fs
  • NP_001394878.1:p.Gln958fs
  • NP_001394879.1:p.Gln958fs
  • NP_001394880.1:p.Gln958fs
  • NP_001394881.1:p.Gln958fs
  • NP_001394882.1:p.Gln958fs
  • NP_001394883.1:p.Gln957fs
  • NP_001394884.1:p.Gln957fs
  • NP_001394885.1:p.Gln957fs
  • NP_001394886.1:p.Gln958fs
  • NP_001394887.1:p.Gln957fs
  • NP_001394888.1:p.Gln942fs
  • NP_001394889.1:p.Gln942fs
  • NP_001394891.1:p.Gln941fs
  • NP_001394892.1:p.Gln942fs
  • NP_001394893.1:p.Gln1021fs
  • NP_001394894.1:p.Gln901fs
  • NP_001394895.1:p.Gln773fs
  • NP_001394896.1:p.Gln773fs
  • NP_009225.1:p.Gln1069Lysfs
  • NP_009225.1:p.Gln1069fs
  • NP_009228.2:p.Gln1022fs
  • NP_009231.2:p.Gln1069fs
  • LRG_292t1:c.3205del
  • LRG_292:g.125658del
  • LRG_292p1:p.Gln1069Lysfs
  • NC_000017.10:g.41244343del
  • NM_007294.3:c.3205delC
  • NM_007294.3:c.3205delC
  • NR_027676.1:n.3341delC
  • p.Gln1069fs
Protein change:
Q1001fs
Links:
dbSNP: rs886040103
NCBI 1000 Genomes Browser:
rs886040103
Molecular consequence:
  • NM_001407571.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3196del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3127del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3202del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3004del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3001del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2995del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2992del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2941del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3082del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3079del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2869del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2869del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2869del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2872del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2869del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2824del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2824del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2824del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3061del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2317del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3064del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1303del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1294del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000549230Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 6, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.

Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.

PubMed [citation]
PMID:
24728189
PMCID:
PMC4119409

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

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

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

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000549230.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant has been reported in an individual with ovarian cancer (PMID: 24728189). ClinVar contains an entry for this variant (Variation ID: 266342). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1069Lysfs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Jul 15, 2024