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NM_007294.4(BRCA1):c.3782del (p.Leu1261fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 25, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003338398.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)]

NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3782del (p.Leu1261fs)
Other names:
3901delT
HGVS:
  • NC_000017.11:g.43091750del
  • NG_005905.2:g.126235del
  • NG_087068.1:g.732del
  • NM_001407571.1:c.3569del
  • NM_001407581.1:c.3782del
  • NM_001407582.1:c.3782del
  • NM_001407583.1:c.3782del
  • NM_001407585.1:c.3782del
  • NM_001407587.1:c.3779del
  • NM_001407590.1:c.3779del
  • NM_001407591.1:c.3779del
  • NM_001407593.1:c.3782del
  • NM_001407594.1:c.3782del
  • NM_001407596.1:c.3782del
  • NM_001407597.1:c.3782del
  • NM_001407598.1:c.3782del
  • NM_001407602.1:c.3782del
  • NM_001407603.1:c.3782del
  • NM_001407605.1:c.3782del
  • NM_001407610.1:c.3779del
  • NM_001407611.1:c.3779del
  • NM_001407612.1:c.3779del
  • NM_001407613.1:c.3779del
  • NM_001407614.1:c.3779del
  • NM_001407615.1:c.3779del
  • NM_001407616.1:c.3782del
  • NM_001407617.1:c.3782del
  • NM_001407618.1:c.3782del
  • NM_001407619.1:c.3782del
  • NM_001407620.1:c.3782del
  • NM_001407621.1:c.3782del
  • NM_001407622.1:c.3782del
  • NM_001407623.1:c.3782del
  • NM_001407624.1:c.3782del
  • NM_001407625.1:c.3782del
  • NM_001407626.1:c.3782del
  • NM_001407627.1:c.3779del
  • NM_001407628.1:c.3779del
  • NM_001407629.1:c.3779del
  • NM_001407630.1:c.3779del
  • NM_001407631.1:c.3779del
  • NM_001407632.1:c.3779del
  • NM_001407633.1:c.3779del
  • NM_001407634.1:c.3779del
  • NM_001407635.1:c.3779del
  • NM_001407636.1:c.3779del
  • NM_001407637.1:c.3779del
  • NM_001407638.1:c.3779del
  • NM_001407639.1:c.3782del
  • NM_001407640.1:c.3782del
  • NM_001407641.1:c.3782del
  • NM_001407642.1:c.3782del
  • NM_001407644.1:c.3779del
  • NM_001407645.1:c.3779del
  • NM_001407646.1:c.3773del
  • NM_001407647.1:c.3773del
  • NM_001407648.1:c.3659del
  • NM_001407649.1:c.3656del
  • NM_001407652.1:c.3782del
  • NM_001407653.1:c.3704del
  • NM_001407654.1:c.3704del
  • NM_001407655.1:c.3704del
  • NM_001407656.1:c.3704del
  • NM_001407657.1:c.3704del
  • NM_001407658.1:c.3704del
  • NM_001407659.1:c.3701del
  • NM_001407660.1:c.3701del
  • NM_001407661.1:c.3701del
  • NM_001407662.1:c.3701del
  • NM_001407663.1:c.3704del
  • NM_001407664.1:c.3659del
  • NM_001407665.1:c.3659del
  • NM_001407666.1:c.3659del
  • NM_001407667.1:c.3659del
  • NM_001407668.1:c.3659del
  • NM_001407669.1:c.3659del
  • NM_001407670.1:c.3656del
  • NM_001407671.1:c.3656del
  • NM_001407672.1:c.3656del
  • NM_001407673.1:c.3656del
  • NM_001407674.1:c.3659del
  • NM_001407675.1:c.3659del
  • NM_001407676.1:c.3659del
  • NM_001407677.1:c.3659del
  • NM_001407678.1:c.3659del
  • NM_001407679.1:c.3659del
  • NM_001407680.1:c.3659del
  • NM_001407681.1:c.3659del
  • NM_001407682.1:c.3659del
  • NM_001407683.1:c.3659del
  • NM_001407684.1:c.3782del
  • NM_001407685.1:c.3656del
  • NM_001407686.1:c.3656del
  • NM_001407687.1:c.3656del
  • NM_001407688.1:c.3656del
  • NM_001407689.1:c.3656del
  • NM_001407690.1:c.3656del
  • NM_001407691.1:c.3656del
  • NM_001407692.1:c.3641del
  • NM_001407694.1:c.3641del
  • NM_001407695.1:c.3641del
  • NM_001407696.1:c.3641del
  • NM_001407697.1:c.3641del
  • NM_001407698.1:c.3641del
  • NM_001407724.1:c.3641del
  • NM_001407725.1:c.3641del
  • NM_001407726.1:c.3641del
  • NM_001407727.1:c.3641del
  • NM_001407728.1:c.3641del
  • NM_001407729.1:c.3641del
  • NM_001407730.1:c.3641del
  • NM_001407731.1:c.3641del
  • NM_001407732.1:c.3641del
  • NM_001407733.1:c.3641del
  • NM_001407734.1:c.3641del
  • NM_001407735.1:c.3641del
  • NM_001407736.1:c.3641del
  • NM_001407737.1:c.3641del
  • NM_001407738.1:c.3641del
  • NM_001407739.1:c.3641del
  • NM_001407740.1:c.3638del
  • NM_001407741.1:c.3638del
  • NM_001407742.1:c.3638del
  • NM_001407743.1:c.3638del
  • NM_001407744.1:c.3638del
  • NM_001407745.1:c.3638del
  • NM_001407746.1:c.3638del
  • NM_001407747.1:c.3638del
  • NM_001407748.1:c.3638del
  • NM_001407749.1:c.3638del
  • NM_001407750.1:c.3641del
  • NM_001407751.1:c.3641del
  • NM_001407752.1:c.3641del
  • NM_001407838.1:c.3638del
  • NM_001407839.1:c.3638del
  • NM_001407841.1:c.3638del
  • NM_001407842.1:c.3638del
  • NM_001407843.1:c.3638del
  • NM_001407844.1:c.3638del
  • NM_001407845.1:c.3638del
  • NM_001407846.1:c.3638del
  • NM_001407847.1:c.3638del
  • NM_001407848.1:c.3638del
  • NM_001407849.1:c.3638del
  • NM_001407850.1:c.3641del
  • NM_001407851.1:c.3641del
  • NM_001407852.1:c.3641del
  • NM_001407853.1:c.3569del
  • NM_001407854.1:c.3782del
  • NM_001407858.1:c.3782del
  • NM_001407859.1:c.3782del
  • NM_001407860.1:c.3779del
  • NM_001407861.1:c.3779del
  • NM_001407862.1:c.3581del
  • NM_001407863.1:c.3659del
  • NM_001407874.1:c.3578del
  • NM_001407875.1:c.3578del
  • NM_001407879.1:c.3572del
  • NM_001407881.1:c.3572del
  • NM_001407882.1:c.3572del
  • NM_001407884.1:c.3572del
  • NM_001407885.1:c.3572del
  • NM_001407886.1:c.3572del
  • NM_001407887.1:c.3572del
  • NM_001407889.1:c.3572del
  • NM_001407894.1:c.3569del
  • NM_001407895.1:c.3569del
  • NM_001407896.1:c.3569del
  • NM_001407897.1:c.3569del
  • NM_001407898.1:c.3569del
  • NM_001407899.1:c.3569del
  • NM_001407900.1:c.3572del
  • NM_001407902.1:c.3572del
  • NM_001407904.1:c.3572del
  • NM_001407906.1:c.3572del
  • NM_001407907.1:c.3572del
  • NM_001407908.1:c.3572del
  • NM_001407909.1:c.3572del
  • NM_001407910.1:c.3572del
  • NM_001407915.1:c.3569del
  • NM_001407916.1:c.3569del
  • NM_001407917.1:c.3569del
  • NM_001407918.1:c.3569del
  • NM_001407919.1:c.3659del
  • NM_001407920.1:c.3518del
  • NM_001407921.1:c.3518del
  • NM_001407922.1:c.3518del
  • NM_001407923.1:c.3518del
  • NM_001407924.1:c.3518del
  • NM_001407925.1:c.3518del
  • NM_001407926.1:c.3518del
  • NM_001407927.1:c.3518del
  • NM_001407928.1:c.3518del
  • NM_001407929.1:c.3518del
  • NM_001407930.1:c.3515del
  • NM_001407931.1:c.3515del
  • NM_001407932.1:c.3515del
  • NM_001407933.1:c.3518del
  • NM_001407934.1:c.3515del
  • NM_001407935.1:c.3518del
  • NM_001407936.1:c.3515del
  • NM_001407937.1:c.3659del
  • NM_001407938.1:c.3659del
  • NM_001407939.1:c.3659del
  • NM_001407940.1:c.3656del
  • NM_001407941.1:c.3656del
  • NM_001407942.1:c.3641del
  • NM_001407943.1:c.3638del
  • NM_001407944.1:c.3641del
  • NM_001407945.1:c.3641del
  • NM_001407946.1:c.3449del
  • NM_001407947.1:c.3449del
  • NM_001407948.1:c.3449del
  • NM_001407949.1:c.3449del
  • NM_001407950.1:c.3449del
  • NM_001407951.1:c.3449del
  • NM_001407952.1:c.3449del
  • NM_001407953.1:c.3449del
  • NM_001407954.1:c.3446del
  • NM_001407955.1:c.3446del
  • NM_001407956.1:c.3446del
  • NM_001407957.1:c.3449del
  • NM_001407958.1:c.3446del
  • NM_001407959.1:c.3401del
  • NM_001407960.1:c.3401del
  • NM_001407962.1:c.3398del
  • NM_001407963.1:c.3401del
  • NM_001407964.1:c.3638del
  • NM_001407965.1:c.3278del
  • NM_001407966.1:c.2894del
  • NM_001407967.1:c.2894del
  • NM_001407968.1:c.1178del
  • NM_001407969.1:c.1178del
  • NM_001407970.1:c.788-717del
  • NM_001407971.1:c.788-717del
  • NM_001407972.1:c.785-717del
  • NM_001407973.1:c.788-717del
  • NM_001407974.1:c.788-717del
  • NM_001407975.1:c.788-717del
  • NM_001407976.1:c.788-717del
  • NM_001407977.1:c.788-717del
  • NM_001407978.1:c.788-717del
  • NM_001407979.1:c.788-717del
  • NM_001407980.1:c.788-717del
  • NM_001407981.1:c.788-717del
  • NM_001407982.1:c.788-717del
  • NM_001407983.1:c.788-717del
  • NM_001407984.1:c.785-717del
  • NM_001407985.1:c.785-717del
  • NM_001407986.1:c.785-717del
  • NM_001407990.1:c.788-717del
  • NM_001407991.1:c.785-717del
  • NM_001407992.1:c.785-717del
  • NM_001407993.1:c.788-717del
  • NM_001408392.1:c.785-717del
  • NM_001408396.1:c.785-717del
  • NM_001408397.1:c.785-717del
  • NM_001408398.1:c.785-717del
  • NM_001408399.1:c.785-717del
  • NM_001408400.1:c.785-717del
  • NM_001408401.1:c.785-717del
  • NM_001408402.1:c.785-717del
  • NM_001408403.1:c.788-717del
  • NM_001408404.1:c.788-717del
  • NM_001408406.1:c.791-726del
  • NM_001408407.1:c.785-717del
  • NM_001408408.1:c.779-717del
  • NM_001408409.1:c.710-717del
  • NM_001408410.1:c.647-717del
  • NM_001408411.1:c.710-717del
  • NM_001408412.1:c.710-717del
  • NM_001408413.1:c.707-717del
  • NM_001408414.1:c.710-717del
  • NM_001408415.1:c.710-717del
  • NM_001408416.1:c.707-717del
  • NM_001408418.1:c.671-717del
  • NM_001408419.1:c.671-717del
  • NM_001408420.1:c.671-717del
  • NM_001408421.1:c.668-717del
  • NM_001408422.1:c.671-717del
  • NM_001408423.1:c.671-717del
  • NM_001408424.1:c.668-717del
  • NM_001408425.1:c.665-717del
  • NM_001408426.1:c.665-717del
  • NM_001408427.1:c.665-717del
  • NM_001408428.1:c.665-717del
  • NM_001408429.1:c.665-717del
  • NM_001408430.1:c.665-717del
  • NM_001408431.1:c.668-717del
  • NM_001408432.1:c.662-717del
  • NM_001408433.1:c.662-717del
  • NM_001408434.1:c.662-717del
  • NM_001408435.1:c.662-717del
  • NM_001408436.1:c.665-717del
  • NM_001408437.1:c.665-717del
  • NM_001408438.1:c.665-717del
  • NM_001408439.1:c.665-717del
  • NM_001408440.1:c.665-717del
  • NM_001408441.1:c.665-717del
  • NM_001408442.1:c.665-717del
  • NM_001408443.1:c.665-717del
  • NM_001408444.1:c.665-717del
  • NM_001408445.1:c.662-717del
  • NM_001408446.1:c.662-717del
  • NM_001408447.1:c.662-717del
  • NM_001408448.1:c.662-717del
  • NM_001408450.1:c.662-717del
  • NM_001408451.1:c.653-717del
  • NM_001408452.1:c.647-717del
  • NM_001408453.1:c.647-717del
  • NM_001408454.1:c.647-717del
  • NM_001408455.1:c.647-717del
  • NM_001408456.1:c.647-717del
  • NM_001408457.1:c.647-717del
  • NM_001408458.1:c.647-717del
  • NM_001408459.1:c.647-717del
  • NM_001408460.1:c.647-717del
  • NM_001408461.1:c.647-717del
  • NM_001408462.1:c.644-717del
  • NM_001408463.1:c.644-717del
  • NM_001408464.1:c.644-717del
  • NM_001408465.1:c.644-717del
  • NM_001408466.1:c.647-717del
  • NM_001408467.1:c.647-717del
  • NM_001408468.1:c.644-717del
  • NM_001408469.1:c.647-717del
  • NM_001408470.1:c.644-717del
  • NM_001408472.1:c.788-717del
  • NM_001408473.1:c.785-717del
  • NM_001408474.1:c.587-717del
  • NM_001408475.1:c.584-717del
  • NM_001408476.1:c.587-717del
  • NM_001408478.1:c.578-717del
  • NM_001408479.1:c.578-717del
  • NM_001408480.1:c.578-717del
  • NM_001408481.1:c.578-717del
  • NM_001408482.1:c.578-717del
  • NM_001408483.1:c.578-717del
  • NM_001408484.1:c.578-717del
  • NM_001408485.1:c.578-717del
  • NM_001408489.1:c.578-717del
  • NM_001408490.1:c.575-717del
  • NM_001408491.1:c.575-717del
  • NM_001408492.1:c.578-717del
  • NM_001408493.1:c.575-717del
  • NM_001408494.1:c.548-717del
  • NM_001408495.1:c.545-717del
  • NM_001408496.1:c.524-717del
  • NM_001408497.1:c.524-717del
  • NM_001408498.1:c.524-717del
  • NM_001408499.1:c.524-717del
  • NM_001408500.1:c.524-717del
  • NM_001408501.1:c.524-717del
  • NM_001408502.1:c.455-717del
  • NM_001408503.1:c.521-717del
  • NM_001408504.1:c.521-717del
  • NM_001408505.1:c.521-717del
  • NM_001408506.1:c.461-717del
  • NM_001408507.1:c.461-717del
  • NM_001408508.1:c.452-717del
  • NM_001408509.1:c.452-717del
  • NM_001408510.1:c.407-717del
  • NM_001408511.1:c.404-717del
  • NM_001408512.1:c.284-717del
  • NM_001408513.1:c.578-717del
  • NM_001408514.1:c.578-717del
  • NM_007294.4:c.3782delMANE SELECT
  • NM_007297.4:c.3641del
  • NM_007298.4:c.788-717del
  • NM_007299.4:c.788-717del
  • NM_007300.4:c.3782del
  • NP_001394500.1:p.Leu1190fs
  • NP_001394510.1:p.Leu1261fs
  • NP_001394511.1:p.Leu1261fs
  • NP_001394512.1:p.Leu1261fs
  • NP_001394514.1:p.Leu1261fs
  • NP_001394516.1:p.Leu1260fs
  • NP_001394519.1:p.Leu1260fs
  • NP_001394520.1:p.Leu1260fs
  • NP_001394522.1:p.Leu1261fs
  • NP_001394523.1:p.Leu1261fs
  • NP_001394525.1:p.Leu1261fs
  • NP_001394526.1:p.Leu1261fs
  • NP_001394527.1:p.Leu1261fs
  • NP_001394531.1:p.Leu1261fs
  • NP_001394532.1:p.Leu1261fs
  • NP_001394534.1:p.Leu1261fs
  • NP_001394539.1:p.Leu1260fs
  • NP_001394540.1:p.Leu1260fs
  • NP_001394541.1:p.Leu1260fs
  • NP_001394542.1:p.Leu1260fs
  • NP_001394543.1:p.Leu1260fs
  • NP_001394544.1:p.Leu1260fs
  • NP_001394545.1:p.Leu1261fs
  • NP_001394546.1:p.Leu1261fs
  • NP_001394547.1:p.Leu1261fs
  • NP_001394548.1:p.Leu1261fs
  • NP_001394549.1:p.Leu1261fs
  • NP_001394550.1:p.Leu1261fs
  • NP_001394551.1:p.Leu1261fs
  • NP_001394552.1:p.Leu1261fs
  • NP_001394553.1:p.Leu1261fs
  • NP_001394554.1:p.Leu1261fs
  • NP_001394555.1:p.Leu1261fs
  • NP_001394556.1:p.Leu1260fs
  • NP_001394557.1:p.Leu1260fs
  • NP_001394558.1:p.Leu1260fs
  • NP_001394559.1:p.Leu1260fs
  • NP_001394560.1:p.Leu1260fs
  • NP_001394561.1:p.Leu1260fs
  • NP_001394562.1:p.Leu1260fs
  • NP_001394563.1:p.Leu1260fs
  • NP_001394564.1:p.Leu1260fs
  • NP_001394565.1:p.Leu1260fs
  • NP_001394566.1:p.Leu1260fs
  • NP_001394567.1:p.Leu1260fs
  • NP_001394568.1:p.Leu1261fs
  • NP_001394569.1:p.Leu1261fs
  • NP_001394570.1:p.Leu1261fs
  • NP_001394571.1:p.Leu1261fs
  • NP_001394573.1:p.Leu1260fs
  • NP_001394574.1:p.Leu1260fs
  • NP_001394575.1:p.Leu1258fs
  • NP_001394576.1:p.Leu1258fs
  • NP_001394577.1:p.Leu1220fs
  • NP_001394578.1:p.Leu1219fs
  • NP_001394581.1:p.Leu1261fs
  • NP_001394582.1:p.Leu1235fs
  • NP_001394583.1:p.Leu1235fs
  • NP_001394584.1:p.Leu1235fs
  • NP_001394585.1:p.Leu1235fs
  • NP_001394586.1:p.Leu1235fs
  • NP_001394587.1:p.Leu1235fs
  • NP_001394588.1:p.Leu1234fs
  • NP_001394589.1:p.Leu1234fs
  • NP_001394590.1:p.Leu1234fs
  • NP_001394591.1:p.Leu1234fs
  • NP_001394592.1:p.Leu1235fs
  • NP_001394593.1:p.Leu1220fs
  • NP_001394594.1:p.Leu1220fs
  • NP_001394595.1:p.Leu1220fs
  • NP_001394596.1:p.Leu1220fs
  • NP_001394597.1:p.Leu1220fs
  • NP_001394598.1:p.Leu1220fs
  • NP_001394599.1:p.Leu1219fs
  • NP_001394600.1:p.Leu1219fs
  • NP_001394601.1:p.Leu1219fs
  • NP_001394602.1:p.Leu1219fs
  • NP_001394603.1:p.Leu1220fs
  • NP_001394604.1:p.Leu1220fs
  • NP_001394605.1:p.Leu1220fs
  • NP_001394606.1:p.Leu1220fs
  • NP_001394607.1:p.Leu1220fs
  • NP_001394608.1:p.Leu1220fs
  • NP_001394609.1:p.Leu1220fs
  • NP_001394610.1:p.Leu1220fs
  • NP_001394611.1:p.Leu1220fs
  • NP_001394612.1:p.Leu1220fs
  • NP_001394613.1:p.Leu1261fs
  • NP_001394614.1:p.Leu1219fs
  • NP_001394615.1:p.Leu1219fs
  • NP_001394616.1:p.Leu1219fs
  • NP_001394617.1:p.Leu1219fs
  • NP_001394618.1:p.Leu1219fs
  • NP_001394619.1:p.Leu1219fs
  • NP_001394620.1:p.Leu1219fs
  • NP_001394621.1:p.Leu1214fs
  • NP_001394623.1:p.Leu1214fs
  • NP_001394624.1:p.Leu1214fs
  • NP_001394625.1:p.Leu1214fs
  • NP_001394626.1:p.Leu1214fs
  • NP_001394627.1:p.Leu1214fs
  • NP_001394653.1:p.Leu1214fs
  • NP_001394654.1:p.Leu1214fs
  • NP_001394655.1:p.Leu1214fs
  • NP_001394656.1:p.Leu1214fs
  • NP_001394657.1:p.Leu1214fs
  • NP_001394658.1:p.Leu1214fs
  • NP_001394659.1:p.Leu1214fs
  • NP_001394660.1:p.Leu1214fs
  • NP_001394661.1:p.Leu1214fs
  • NP_001394662.1:p.Leu1214fs
  • NP_001394663.1:p.Leu1214fs
  • NP_001394664.1:p.Leu1214fs
  • NP_001394665.1:p.Leu1214fs
  • NP_001394666.1:p.Leu1214fs
  • NP_001394667.1:p.Leu1214fs
  • NP_001394668.1:p.Leu1214fs
  • NP_001394669.1:p.Leu1213fs
  • NP_001394670.1:p.Leu1213fs
  • NP_001394671.1:p.Leu1213fs
  • NP_001394672.1:p.Leu1213fs
  • NP_001394673.1:p.Leu1213fs
  • NP_001394674.1:p.Leu1213fs
  • NP_001394675.1:p.Leu1213fs
  • NP_001394676.1:p.Leu1213fs
  • NP_001394677.1:p.Leu1213fs
  • NP_001394678.1:p.Leu1213fs
  • NP_001394679.1:p.Leu1214fs
  • NP_001394680.1:p.Leu1214fs
  • NP_001394681.1:p.Leu1214fs
  • NP_001394767.1:p.Leu1213fs
  • NP_001394768.1:p.Leu1213fs
  • NP_001394770.1:p.Leu1213fs
  • NP_001394771.1:p.Leu1213fs
  • NP_001394772.1:p.Leu1213fs
  • NP_001394773.1:p.Leu1213fs
  • NP_001394774.1:p.Leu1213fs
  • NP_001394775.1:p.Leu1213fs
  • NP_001394776.1:p.Leu1213fs
  • NP_001394777.1:p.Leu1213fs
  • NP_001394778.1:p.Leu1213fs
  • NP_001394779.1:p.Leu1214fs
  • NP_001394780.1:p.Leu1214fs
  • NP_001394781.1:p.Leu1214fs
  • NP_001394782.1:p.Leu1190fs
  • NP_001394783.1:p.Leu1261fs
  • NP_001394787.1:p.Leu1261fs
  • NP_001394788.1:p.Leu1261fs
  • NP_001394789.1:p.Leu1260fs
  • NP_001394790.1:p.Leu1260fs
  • NP_001394791.1:p.Leu1194fs
  • NP_001394792.1:p.Leu1220fs
  • NP_001394803.1:p.Leu1193fs
  • NP_001394804.1:p.Leu1193fs
  • NP_001394808.1:p.Leu1191fs
  • NP_001394810.1:p.Leu1191fs
  • NP_001394811.1:p.Leu1191fs
  • NP_001394813.1:p.Leu1191fs
  • NP_001394814.1:p.Leu1191fs
  • NP_001394815.1:p.Leu1191fs
  • NP_001394816.1:p.Leu1191fs
  • NP_001394818.1:p.Leu1191fs
  • NP_001394823.1:p.Leu1190fs
  • NP_001394824.1:p.Leu1190fs
  • NP_001394825.1:p.Leu1190fs
  • NP_001394826.1:p.Leu1190fs
  • NP_001394827.1:p.Leu1190fs
  • NP_001394828.1:p.Leu1190fs
  • NP_001394829.1:p.Leu1191fs
  • NP_001394831.1:p.Leu1191fs
  • NP_001394833.1:p.Leu1191fs
  • NP_001394835.1:p.Leu1191fs
  • NP_001394836.1:p.Leu1191fs
  • NP_001394837.1:p.Leu1191fs
  • NP_001394838.1:p.Leu1191fs
  • NP_001394839.1:p.Leu1191fs
  • NP_001394844.1:p.Leu1190fs
  • NP_001394845.1:p.Leu1190fs
  • NP_001394846.1:p.Leu1190fs
  • NP_001394847.1:p.Leu1190fs
  • NP_001394848.1:p.Leu1220fs
  • NP_001394849.1:p.Leu1173fs
  • NP_001394850.1:p.Leu1173fs
  • NP_001394851.1:p.Leu1173fs
  • NP_001394852.1:p.Leu1173fs
  • NP_001394853.1:p.Leu1173fs
  • NP_001394854.1:p.Leu1173fs
  • NP_001394855.1:p.Leu1173fs
  • NP_001394856.1:p.Leu1173fs
  • NP_001394857.1:p.Leu1173fs
  • NP_001394858.1:p.Leu1173fs
  • NP_001394859.1:p.Leu1172fs
  • NP_001394860.1:p.Leu1172fs
  • NP_001394861.1:p.Leu1172fs
  • NP_001394862.1:p.Leu1173fs
  • NP_001394863.1:p.Leu1172fs
  • NP_001394864.1:p.Leu1173fs
  • NP_001394865.1:p.Leu1172fs
  • NP_001394866.1:p.Leu1220fs
  • NP_001394867.1:p.Leu1220fs
  • NP_001394868.1:p.Leu1220fs
  • NP_001394869.1:p.Leu1219fs
  • NP_001394870.1:p.Leu1219fs
  • NP_001394871.1:p.Leu1214fs
  • NP_001394872.1:p.Leu1213fs
  • NP_001394873.1:p.Leu1214fs
  • NP_001394874.1:p.Leu1214fs
  • NP_001394875.1:p.Leu1150fs
  • NP_001394876.1:p.Leu1150fs
  • NP_001394877.1:p.Leu1150fs
  • NP_001394878.1:p.Leu1150fs
  • NP_001394879.1:p.Leu1150fs
  • NP_001394880.1:p.Leu1150fs
  • NP_001394881.1:p.Leu1150fs
  • NP_001394882.1:p.Leu1150fs
  • NP_001394883.1:p.Leu1149fs
  • NP_001394884.1:p.Leu1149fs
  • NP_001394885.1:p.Leu1149fs
  • NP_001394886.1:p.Leu1150fs
  • NP_001394887.1:p.Leu1149fs
  • NP_001394888.1:p.Leu1134fs
  • NP_001394889.1:p.Leu1134fs
  • NP_001394891.1:p.Leu1133fs
  • NP_001394892.1:p.Leu1134fs
  • NP_001394893.1:p.Leu1213fs
  • NP_001394894.1:p.Leu1093fs
  • NP_001394895.1:p.Leu965fs
  • NP_001394896.1:p.Leu965fs
  • NP_001394897.1:p.Leu393fs
  • NP_001394898.1:p.Leu393fs
  • NP_009225.1:p.Leu1261Tyrfs
  • NP_009225.1:p.Leu1261fs
  • NP_009228.2:p.Leu1214fs
  • NP_009231.2:p.Leu1261fs
  • LRG_292t1:c.3781del
  • LRG_292:g.126235del
  • LRG_292p1:p.Leu1261Tyrfs
  • NC_000017.10:g.41243766del
  • NC_000017.10:g.41243767del
  • NM_007294.3:c.3781delT
  • NM_007294.3:c.3782delT
  • NR_027676.1:n.3917delT
  • U14680.1:n.3901delT
Protein change:
L1093fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3901&base_change=del T; dbSNP: rs80357545
NCBI 1000 Genomes Browser:
rs80357545
Molecular consequence:
  • NM_001407571.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3773del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3773del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3701del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3704del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3779del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3581del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3578del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3578del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3572del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.3515del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.3515del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.3515del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.3515del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.3518del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.3515del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3659del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3656del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.3446del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.3446del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.3446del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.3449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.3446del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.3401del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.3401del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.3398del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.3401del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3638del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.3278del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2894del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2894del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.1178del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.1178del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3641del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3782del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-726del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-717del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004058462Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 25, 2023) 		germlineclinical testing

Citation Link,

SCV004360214Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 22, 2023) 		germlineclinical testing

PubMed (2)
[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

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV004058462.2

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

Description

The c.3782delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3782, causing a translational frameshift with a predicted alternate stop codon (p.L1261Yfs*3). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV004360214.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in 1 family among CIMBA participants (PMID: 29446198; https://cimba.ccge.medschl.cam.ac.uk/). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 8, 2024