NM_007294.4(BRCA1):c.3874del (p.Ser1292fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000241500.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)]

NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)

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.3874del (p.Ser1292fs)

HGVS:

NC_000017.11:g.43091658del
NG_005905.2:g.126327del
NG_087068.1:g.640del
NM_001407571.1:c.3661del
NM_001407581.1:c.3874del
NM_001407582.1:c.3874del
NM_001407583.1:c.3874del
NM_001407585.1:c.3874del
NM_001407587.1:c.3871del
NM_001407590.1:c.3871del
NM_001407591.1:c.3871del
NM_001407593.1:c.3874del
NM_001407594.1:c.3874del
NM_001407596.1:c.3874del
NM_001407597.1:c.3874del
NM_001407598.1:c.3874del
NM_001407602.1:c.3874del
NM_001407603.1:c.3874del
NM_001407605.1:c.3874del
NM_001407610.1:c.3871del
NM_001407611.1:c.3871del
NM_001407612.1:c.3871del
NM_001407613.1:c.3871del
NM_001407614.1:c.3871del
NM_001407615.1:c.3871del
NM_001407616.1:c.3874del
NM_001407617.1:c.3874del
NM_001407618.1:c.3874del
NM_001407619.1:c.3874del
NM_001407620.1:c.3874del
NM_001407621.1:c.3874del
NM_001407622.1:c.3874del
NM_001407623.1:c.3874del
NM_001407624.1:c.3874del
NM_001407625.1:c.3874del
NM_001407626.1:c.3874del
NM_001407627.1:c.3871del
NM_001407628.1:c.3871del
NM_001407629.1:c.3871del
NM_001407630.1:c.3871del
NM_001407631.1:c.3871del
NM_001407632.1:c.3871del
NM_001407633.1:c.3871del
NM_001407634.1:c.3871del
NM_001407635.1:c.3871del
NM_001407636.1:c.3871del
NM_001407637.1:c.3871del
NM_001407638.1:c.3871del
NM_001407639.1:c.3874del
NM_001407640.1:c.3874del
NM_001407641.1:c.3874del
NM_001407642.1:c.3874del
NM_001407644.1:c.3871del
NM_001407645.1:c.3871del
NM_001407646.1:c.3865del
NM_001407647.1:c.3865del
NM_001407648.1:c.3751del
NM_001407649.1:c.3748del
NM_001407652.1:c.3874del
NM_001407653.1:c.3796del
NM_001407654.1:c.3796del
NM_001407655.1:c.3796del
NM_001407656.1:c.3796del
NM_001407657.1:c.3796del
NM_001407658.1:c.3796del
NM_001407659.1:c.3793del
NM_001407660.1:c.3793del
NM_001407661.1:c.3793del
NM_001407662.1:c.3793del
NM_001407663.1:c.3796del
NM_001407664.1:c.3751del
NM_001407665.1:c.3751del
NM_001407666.1:c.3751del
NM_001407667.1:c.3751del
NM_001407668.1:c.3751del
NM_001407669.1:c.3751del
NM_001407670.1:c.3748del
NM_001407671.1:c.3748del
NM_001407672.1:c.3748del
NM_001407673.1:c.3748del
NM_001407674.1:c.3751del
NM_001407675.1:c.3751del
NM_001407676.1:c.3751del
NM_001407677.1:c.3751del
NM_001407678.1:c.3751del
NM_001407679.1:c.3751del
NM_001407680.1:c.3751del
NM_001407681.1:c.3751del
NM_001407682.1:c.3751del
NM_001407683.1:c.3751del
NM_001407684.1:c.3874del
NM_001407685.1:c.3748del
NM_001407686.1:c.3748del
NM_001407687.1:c.3748del
NM_001407688.1:c.3748del
NM_001407689.1:c.3748del
NM_001407690.1:c.3748del
NM_001407691.1:c.3748del
NM_001407692.1:c.3733del
NM_001407694.1:c.3733del
NM_001407695.1:c.3733del
NM_001407696.1:c.3733del
NM_001407697.1:c.3733del
NM_001407698.1:c.3733del
NM_001407724.1:c.3733del
NM_001407725.1:c.3733del
NM_001407726.1:c.3733del
NM_001407727.1:c.3733del
NM_001407728.1:c.3733del
NM_001407729.1:c.3733del
NM_001407730.1:c.3733del
NM_001407731.1:c.3733del
NM_001407732.1:c.3733del
NM_001407733.1:c.3733del
NM_001407734.1:c.3733del
NM_001407735.1:c.3733del
NM_001407736.1:c.3733del
NM_001407737.1:c.3733del
NM_001407738.1:c.3733del
NM_001407739.1:c.3733del
NM_001407740.1:c.3730del
NM_001407741.1:c.3730del
NM_001407742.1:c.3730del
NM_001407743.1:c.3730del
NM_001407744.1:c.3730del
NM_001407745.1:c.3730del
NM_001407746.1:c.3730del
NM_001407747.1:c.3730del
NM_001407748.1:c.3730del
NM_001407749.1:c.3730del
NM_001407750.1:c.3733del
NM_001407751.1:c.3733del
NM_001407752.1:c.3733del
NM_001407838.1:c.3730del
NM_001407839.1:c.3730del
NM_001407841.1:c.3730del
NM_001407842.1:c.3730del
NM_001407843.1:c.3730del
NM_001407844.1:c.3730del
NM_001407845.1:c.3730del
NM_001407846.1:c.3730del
NM_001407847.1:c.3730del
NM_001407848.1:c.3730del
NM_001407849.1:c.3730del
NM_001407850.1:c.3733del
NM_001407851.1:c.3733del
NM_001407852.1:c.3733del
NM_001407853.1:c.3661del
NM_001407854.1:c.3874del
NM_001407858.1:c.3874del
NM_001407859.1:c.3874del
NM_001407860.1:c.3871del
NM_001407861.1:c.3871del
NM_001407862.1:c.3673del
NM_001407863.1:c.3751del
NM_001407874.1:c.3670del
NM_001407875.1:c.3670del
NM_001407879.1:c.3664del
NM_001407881.1:c.3664del
NM_001407882.1:c.3664del
NM_001407884.1:c.3664del
NM_001407885.1:c.3664del
NM_001407886.1:c.3664del
NM_001407887.1:c.3664del
NM_001407889.1:c.3664del
NM_001407894.1:c.3661del
NM_001407895.1:c.3661del
NM_001407896.1:c.3661del
NM_001407897.1:c.3661del
NM_001407898.1:c.3661del
NM_001407899.1:c.3661del
NM_001407900.1:c.3664del
NM_001407902.1:c.3664del
NM_001407904.1:c.3664del
NM_001407906.1:c.3664del
NM_001407907.1:c.3664del
NM_001407908.1:c.3664del
NM_001407909.1:c.3664del
NM_001407910.1:c.3664del
NM_001407915.1:c.3661del
NM_001407916.1:c.3661del
NM_001407917.1:c.3661del
NM_001407918.1:c.3661del
NM_001407919.1:c.3751del
NM_001407920.1:c.3610del
NM_001407921.1:c.3610del
NM_001407922.1:c.3610del
NM_001407923.1:c.3610del
NM_001407924.1:c.3610del
NM_001407925.1:c.3610del
NM_001407926.1:c.3610del
NM_001407927.1:c.3610del
NM_001407928.1:c.3610del
NM_001407929.1:c.3610del
NM_001407930.1:c.3607del
NM_001407931.1:c.3607del
NM_001407932.1:c.3607del
NM_001407933.1:c.3610del
NM_001407934.1:c.3607del
NM_001407935.1:c.3610del
NM_001407936.1:c.3607del
NM_001407937.1:c.3751del
NM_001407938.1:c.3751del
NM_001407939.1:c.3751del
NM_001407940.1:c.3748del
NM_001407941.1:c.3748del
NM_001407942.1:c.3733del
NM_001407943.1:c.3730del
NM_001407944.1:c.3733del
NM_001407945.1:c.3733del
NM_001407946.1:c.3541del
NM_001407947.1:c.3541del
NM_001407948.1:c.3541del
NM_001407949.1:c.3541del
NM_001407950.1:c.3541del
NM_001407951.1:c.3541del
NM_001407952.1:c.3541del
NM_001407953.1:c.3541del
NM_001407954.1:c.3538del
NM_001407955.1:c.3538del
NM_001407956.1:c.3538del
NM_001407957.1:c.3541del
NM_001407958.1:c.3538del
NM_001407959.1:c.3493del
NM_001407960.1:c.3493del
NM_001407962.1:c.3490del
NM_001407963.1:c.3493del
NM_001407964.1:c.3730del
NM_001407965.1:c.3370del
NM_001407966.1:c.2986del
NM_001407967.1:c.2986del
NM_001407968.1:c.1270del
NM_001407969.1:c.1270del
NM_001407970.1:c.788-625del
NM_001407971.1:c.788-625del
NM_001407972.1:c.785-625del
NM_001407973.1:c.788-625del
NM_001407974.1:c.788-625del
NM_001407975.1:c.788-625del
NM_001407976.1:c.788-625del
NM_001407977.1:c.788-625del
NM_001407978.1:c.788-625del
NM_001407979.1:c.788-625del
NM_001407980.1:c.788-625del
NM_001407981.1:c.788-625del
NM_001407982.1:c.788-625del
NM_001407983.1:c.788-625del
NM_001407984.1:c.785-625del
NM_001407985.1:c.785-625del
NM_001407986.1:c.785-625del
NM_001407990.1:c.788-625del
NM_001407991.1:c.785-625del
NM_001407992.1:c.785-625del
NM_001407993.1:c.788-625del
NM_001408392.1:c.785-625del
NM_001408396.1:c.785-625del
NM_001408397.1:c.785-625del
NM_001408398.1:c.785-625del
NM_001408399.1:c.785-625del
NM_001408400.1:c.785-625del
NM_001408401.1:c.785-625del
NM_001408402.1:c.785-625del
NM_001408403.1:c.788-625del
NM_001408404.1:c.788-625del
NM_001408406.1:c.791-634del
NM_001408407.1:c.785-625del
NM_001408408.1:c.779-625del
NM_001408409.1:c.710-625del
NM_001408410.1:c.647-625del
NM_001408411.1:c.710-625del
NM_001408412.1:c.710-625del
NM_001408413.1:c.707-625del
NM_001408414.1:c.710-625del
NM_001408415.1:c.710-625del
NM_001408416.1:c.707-625del
NM_001408418.1:c.671-625del
NM_001408419.1:c.671-625del
NM_001408420.1:c.671-625del
NM_001408421.1:c.668-625del
NM_001408422.1:c.671-625del
NM_001408423.1:c.671-625del
NM_001408424.1:c.668-625del
NM_001408425.1:c.665-625del
NM_001408426.1:c.665-625del
NM_001408427.1:c.665-625del
NM_001408428.1:c.665-625del
NM_001408429.1:c.665-625del
NM_001408430.1:c.665-625del
NM_001408431.1:c.668-625del
NM_001408432.1:c.662-625del
NM_001408433.1:c.662-625del
NM_001408434.1:c.662-625del
NM_001408435.1:c.662-625del
NM_001408436.1:c.665-625del
NM_001408437.1:c.665-625del
NM_001408438.1:c.665-625del
NM_001408439.1:c.665-625del
NM_001408440.1:c.665-625del
NM_001408441.1:c.665-625del
NM_001408442.1:c.665-625del
NM_001408443.1:c.665-625del
NM_001408444.1:c.665-625del
NM_001408445.1:c.662-625del
NM_001408446.1:c.662-625del
NM_001408447.1:c.662-625del
NM_001408448.1:c.662-625del
NM_001408450.1:c.662-625del
NM_001408451.1:c.653-625del
NM_001408452.1:c.647-625del
NM_001408453.1:c.647-625del
NM_001408454.1:c.647-625del
NM_001408455.1:c.647-625del
NM_001408456.1:c.647-625del
NM_001408457.1:c.647-625del
NM_001408458.1:c.647-625del
NM_001408459.1:c.647-625del
NM_001408460.1:c.647-625del
NM_001408461.1:c.647-625del
NM_001408462.1:c.644-625del
NM_001408463.1:c.644-625del
NM_001408464.1:c.644-625del
NM_001408465.1:c.644-625del
NM_001408466.1:c.647-625del
NM_001408467.1:c.647-625del
NM_001408468.1:c.644-625del
NM_001408469.1:c.647-625del
NM_001408470.1:c.644-625del
NM_001408472.1:c.788-625del
NM_001408473.1:c.785-625del
NM_001408474.1:c.587-625del
NM_001408475.1:c.584-625del
NM_001408476.1:c.587-625del
NM_001408478.1:c.578-625del
NM_001408479.1:c.578-625del
NM_001408480.1:c.578-625del
NM_001408481.1:c.578-625del
NM_001408482.1:c.578-625del
NM_001408483.1:c.578-625del
NM_001408484.1:c.578-625del
NM_001408485.1:c.578-625del
NM_001408489.1:c.578-625del
NM_001408490.1:c.575-625del
NM_001408491.1:c.575-625del
NM_001408492.1:c.578-625del
NM_001408493.1:c.575-625del
NM_001408494.1:c.548-625del
NM_001408495.1:c.545-625del
NM_001408496.1:c.524-625del
NM_001408497.1:c.524-625del
NM_001408498.1:c.524-625del
NM_001408499.1:c.524-625del
NM_001408500.1:c.524-625del
NM_001408501.1:c.524-625del
NM_001408502.1:c.455-625del
NM_001408503.1:c.521-625del
NM_001408504.1:c.521-625del
NM_001408505.1:c.521-625del
NM_001408506.1:c.461-625del
NM_001408507.1:c.461-625del
NM_001408508.1:c.452-625del
NM_001408509.1:c.452-625del
NM_001408510.1:c.407-625del
NM_001408511.1:c.404-625del
NM_001408512.1:c.284-625del
NM_001408513.1:c.578-625del
NM_001408514.1:c.578-625del
NM_007294.4:c.3874delMANE SELECT
NM_007294.4:c.3874delT
NM_007297.4:c.3733del
NM_007298.4:c.788-625del
NM_007299.4:c.788-625del
NM_007300.4:c.3874del
NP_001394500.1:p.Ser1221fs
NP_001394510.1:p.Ser1292fs
NP_001394511.1:p.Ser1292fs
NP_001394512.1:p.Ser1292fs
NP_001394514.1:p.Ser1292fs
NP_001394516.1:p.Ser1291fs
NP_001394519.1:p.Ser1291fs
NP_001394520.1:p.Ser1291fs
NP_001394522.1:p.Ser1292fs
NP_001394523.1:p.Ser1292fs
NP_001394525.1:p.Ser1292fs
NP_001394526.1:p.Ser1292fs
NP_001394527.1:p.Ser1292fs
NP_001394531.1:p.Ser1292fs
NP_001394532.1:p.Ser1292fs
NP_001394534.1:p.Ser1292fs
NP_001394539.1:p.Ser1291fs
NP_001394540.1:p.Ser1291fs
NP_001394541.1:p.Ser1291fs
NP_001394542.1:p.Ser1291fs
NP_001394543.1:p.Ser1291fs
NP_001394544.1:p.Ser1291fs
NP_001394545.1:p.Ser1292fs
NP_001394546.1:p.Ser1292fs
NP_001394547.1:p.Ser1292fs
NP_001394548.1:p.Ser1292fs
NP_001394549.1:p.Ser1292fs
NP_001394550.1:p.Ser1292fs
NP_001394551.1:p.Ser1292fs
NP_001394552.1:p.Ser1292fs
NP_001394553.1:p.Ser1292fs
NP_001394554.1:p.Ser1292fs
NP_001394555.1:p.Ser1292fs
NP_001394556.1:p.Ser1291fs
NP_001394557.1:p.Ser1291fs
NP_001394558.1:p.Ser1291fs
NP_001394559.1:p.Ser1291fs
NP_001394560.1:p.Ser1291fs
NP_001394561.1:p.Ser1291fs
NP_001394562.1:p.Ser1291fs
NP_001394563.1:p.Ser1291fs
NP_001394564.1:p.Ser1291fs
NP_001394565.1:p.Ser1291fs
NP_001394566.1:p.Ser1291fs
NP_001394567.1:p.Ser1291fs
NP_001394568.1:p.Ser1292fs
NP_001394569.1:p.Ser1292fs
NP_001394570.1:p.Ser1292fs
NP_001394571.1:p.Ser1292fs
NP_001394573.1:p.Ser1291fs
NP_001394574.1:p.Ser1291fs
NP_001394575.1:p.Ser1289fs
NP_001394576.1:p.Ser1289fs
NP_001394577.1:p.Ser1251fs
NP_001394578.1:p.Ser1250fs
NP_001394581.1:p.Ser1292fs
NP_001394582.1:p.Ser1266fs
NP_001394583.1:p.Ser1266fs
NP_001394584.1:p.Ser1266fs
NP_001394585.1:p.Ser1266fs
NP_001394586.1:p.Ser1266fs
NP_001394587.1:p.Ser1266fs
NP_001394588.1:p.Ser1265fs
NP_001394589.1:p.Ser1265fs
NP_001394590.1:p.Ser1265fs
NP_001394591.1:p.Ser1265fs
NP_001394592.1:p.Ser1266fs
NP_001394593.1:p.Ser1251fs
NP_001394594.1:p.Ser1251fs
NP_001394595.1:p.Ser1251fs
NP_001394596.1:p.Ser1251fs
NP_001394597.1:p.Ser1251fs
NP_001394598.1:p.Ser1251fs
NP_001394599.1:p.Ser1250fs
NP_001394600.1:p.Ser1250fs
NP_001394601.1:p.Ser1250fs
NP_001394602.1:p.Ser1250fs
NP_001394603.1:p.Ser1251fs
NP_001394604.1:p.Ser1251fs
NP_001394605.1:p.Ser1251fs
NP_001394606.1:p.Ser1251fs
NP_001394607.1:p.Ser1251fs
NP_001394608.1:p.Ser1251fs
NP_001394609.1:p.Ser1251fs
NP_001394610.1:p.Ser1251fs
NP_001394611.1:p.Ser1251fs
NP_001394612.1:p.Ser1251fs
NP_001394613.1:p.Ser1292fs
NP_001394614.1:p.Ser1250fs
NP_001394615.1:p.Ser1250fs
NP_001394616.1:p.Ser1250fs
NP_001394617.1:p.Ser1250fs
NP_001394618.1:p.Ser1250fs
NP_001394619.1:p.Ser1250fs
NP_001394620.1:p.Ser1250fs
NP_001394621.1:p.Ser1245fs
NP_001394623.1:p.Ser1245fs
NP_001394624.1:p.Ser1245fs
NP_001394625.1:p.Ser1245fs
NP_001394626.1:p.Ser1245fs
NP_001394627.1:p.Ser1245fs
NP_001394653.1:p.Ser1245fs
NP_001394654.1:p.Ser1245fs
NP_001394655.1:p.Ser1245fs
NP_001394656.1:p.Ser1245fs
NP_001394657.1:p.Ser1245fs
NP_001394658.1:p.Ser1245fs
NP_001394659.1:p.Ser1245fs
NP_001394660.1:p.Ser1245fs
NP_001394661.1:p.Ser1245fs
NP_001394662.1:p.Ser1245fs
NP_001394663.1:p.Ser1245fs
NP_001394664.1:p.Ser1245fs
NP_001394665.1:p.Ser1245fs
NP_001394666.1:p.Ser1245fs
NP_001394667.1:p.Ser1245fs
NP_001394668.1:p.Ser1245fs
NP_001394669.1:p.Ser1244fs
NP_001394670.1:p.Ser1244fs
NP_001394671.1:p.Ser1244fs
NP_001394672.1:p.Ser1244fs
NP_001394673.1:p.Ser1244fs
NP_001394674.1:p.Ser1244fs
NP_001394675.1:p.Ser1244fs
NP_001394676.1:p.Ser1244fs
NP_001394677.1:p.Ser1244fs
NP_001394678.1:p.Ser1244fs
NP_001394679.1:p.Ser1245fs
NP_001394680.1:p.Ser1245fs
NP_001394681.1:p.Ser1245fs
NP_001394767.1:p.Ser1244fs
NP_001394768.1:p.Ser1244fs
NP_001394770.1:p.Ser1244fs
NP_001394771.1:p.Ser1244fs
NP_001394772.1:p.Ser1244fs
NP_001394773.1:p.Ser1244fs
NP_001394774.1:p.Ser1244fs
NP_001394775.1:p.Ser1244fs
NP_001394776.1:p.Ser1244fs
NP_001394777.1:p.Ser1244fs
NP_001394778.1:p.Ser1244fs
NP_001394779.1:p.Ser1245fs
NP_001394780.1:p.Ser1245fs
NP_001394781.1:p.Ser1245fs
NP_001394782.1:p.Ser1221fs
NP_001394783.1:p.Ser1292fs
NP_001394787.1:p.Ser1292fs
NP_001394788.1:p.Ser1292fs
NP_001394789.1:p.Ser1291fs
NP_001394790.1:p.Ser1291fs
NP_001394791.1:p.Ser1225fs
NP_001394792.1:p.Ser1251fs
NP_001394803.1:p.Ser1224fs
NP_001394804.1:p.Ser1224fs
NP_001394808.1:p.Ser1222fs
NP_001394810.1:p.Ser1222fs
NP_001394811.1:p.Ser1222fs
NP_001394813.1:p.Ser1222fs
NP_001394814.1:p.Ser1222fs
NP_001394815.1:p.Ser1222fs
NP_001394816.1:p.Ser1222fs
NP_001394818.1:p.Ser1222fs
NP_001394823.1:p.Ser1221fs
NP_001394824.1:p.Ser1221fs
NP_001394825.1:p.Ser1221fs
NP_001394826.1:p.Ser1221fs
NP_001394827.1:p.Ser1221fs
NP_001394828.1:p.Ser1221fs
NP_001394829.1:p.Ser1222fs
NP_001394831.1:p.Ser1222fs
NP_001394833.1:p.Ser1222fs
NP_001394835.1:p.Ser1222fs
NP_001394836.1:p.Ser1222fs
NP_001394837.1:p.Ser1222fs
NP_001394838.1:p.Ser1222fs
NP_001394839.1:p.Ser1222fs
NP_001394844.1:p.Ser1221fs
NP_001394845.1:p.Ser1221fs
NP_001394846.1:p.Ser1221fs
NP_001394847.1:p.Ser1221fs
NP_001394848.1:p.Ser1251fs
NP_001394849.1:p.Ser1204fs
NP_001394850.1:p.Ser1204fs
NP_001394851.1:p.Ser1204fs
NP_001394852.1:p.Ser1204fs
NP_001394853.1:p.Ser1204fs
NP_001394854.1:p.Ser1204fs
NP_001394855.1:p.Ser1204fs
NP_001394856.1:p.Ser1204fs
NP_001394857.1:p.Ser1204fs
NP_001394858.1:p.Ser1204fs
NP_001394859.1:p.Ser1203fs
NP_001394860.1:p.Ser1203fs
NP_001394861.1:p.Ser1203fs
NP_001394862.1:p.Ser1204fs
NP_001394863.1:p.Ser1203fs
NP_001394864.1:p.Ser1204fs
NP_001394865.1:p.Ser1203fs
NP_001394866.1:p.Ser1251fs
NP_001394867.1:p.Ser1251fs
NP_001394868.1:p.Ser1251fs
NP_001394869.1:p.Ser1250fs
NP_001394870.1:p.Ser1250fs
NP_001394871.1:p.Ser1245fs
NP_001394872.1:p.Ser1244fs
NP_001394873.1:p.Ser1245fs
NP_001394874.1:p.Ser1245fs
NP_001394875.1:p.Ser1181fs
NP_001394876.1:p.Ser1181fs
NP_001394877.1:p.Ser1181fs
NP_001394878.1:p.Ser1181fs
NP_001394879.1:p.Ser1181fs
NP_001394880.1:p.Ser1181fs
NP_001394881.1:p.Ser1181fs
NP_001394882.1:p.Ser1181fs
NP_001394883.1:p.Ser1180fs
NP_001394884.1:p.Ser1180fs
NP_001394885.1:p.Ser1180fs
NP_001394886.1:p.Ser1181fs
NP_001394887.1:p.Ser1180fs
NP_001394888.1:p.Ser1165fs
NP_001394889.1:p.Ser1165fs
NP_001394891.1:p.Ser1164fs
NP_001394892.1:p.Ser1165fs
NP_001394893.1:p.Ser1244fs
NP_001394894.1:p.Ser1124fs
NP_001394895.1:p.Ser996fs
NP_001394896.1:p.Ser996fs
NP_001394897.1:p.Ser424fs
NP_001394898.1:p.Ser424fs
NP_009225.1:p.Ser1292Leufs
NP_009225.1:p.Ser1292fs
NP_009228.2:p.Ser1245fs
NP_009231.2:p.Ser1292fs
LRG_292t1:c.3873del
LRG_292:g.126327del
LRG_292p1:p.Ser1292Leufs
NC_000017.10:g.41243675del
NM_007294.3:c.3873delT
NM_007294.3:c.3874delT
NR_027676.1:n.4009delT
p.S1292LFS*15

Protein change:

S1124fs

Links:

dbSNP: rs587780802

NCBI 1000 Genomes Browser:

rs587780802

Molecular consequence:

NM_001407571.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3865del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3796del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3871del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3673del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3670del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3664del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3661del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3607del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3607del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3607del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3607del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3610del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3607del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3751del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3541del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3490del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3493del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3730del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3370del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2986del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2986del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3874del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-634del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-625del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000300035	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325777	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000564313	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004244022	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	18	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	7	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300035.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325777.4

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

#	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	18	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564313.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		7	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004244022.1

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

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

Last Updated: Jun 17, 2024

ClinVar

Relating variation to medicine