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

Recent activity

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hypothetical protein BJ165DRAFT_121368 [Panaeolus papilionaceus]
hypothetical protein BJ165DRAFT_121368 [Panaeolus papilionaceus]
gi|1932434043|gb|KAF9058277.1||gnl| ADNRZ|BJ165DRAFT_121368

Protein
Pseudobaeospora oligophylla voucher LE254346 internal transcribed spacer 1, part...
Pseudobaeospora oligophylla voucher LE254346 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2255207340|gb|ON791276.1|

Nucleotide
RecName: Full=TBC1 domain family member 26
RecName: Full=TBC1 domain family member 26
gi|313104281|sp|Q86UD7.3|TBC26_HUMA

Protein
CC00533
CC00533

biosample
CC01418
CC01418

biosample

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004058462	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 25, 2023)	germline	clinical testing	Citation Link,
SCV004360214	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 22, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29446198, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004058462

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 25, 2023)

germline

clinical testing

Citation Link,

SCV004360214

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 22, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

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

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

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

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

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

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine