NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (8 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:: RCV000031150.24

Allele description [Variation Report for NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)]

NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)

Other names:

p.E1373*:GAG>TAG

HGVS:

NC_000017.11:g.43091012C>A
NG_005905.2:g.126972G>T
NM_001407571.1:c.3904G>T
NM_001407581.1:c.4117G>T
NM_001407582.1:c.4117G>T
NM_001407583.1:c.4117G>T
NM_001407585.1:c.4117G>T
NM_001407587.1:c.4114G>T
NM_001407590.1:c.4114G>T
NM_001407591.1:c.4114G>T
NM_001407593.1:c.4117G>T
NM_001407594.1:c.4117G>T
NM_001407596.1:c.4117G>T
NM_001407597.1:c.4117G>T
NM_001407598.1:c.4117G>T
NM_001407602.1:c.4117G>T
NM_001407603.1:c.4117G>T
NM_001407605.1:c.4117G>T
NM_001407610.1:c.4114G>T
NM_001407611.1:c.4114G>T
NM_001407612.1:c.4114G>T
NM_001407613.1:c.4114G>T
NM_001407614.1:c.4114G>T
NM_001407615.1:c.4114G>T
NM_001407616.1:c.4117G>T
NM_001407617.1:c.4117G>T
NM_001407618.1:c.4117G>T
NM_001407619.1:c.4117G>T
NM_001407620.1:c.4117G>T
NM_001407621.1:c.4117G>T
NM_001407622.1:c.4117G>T
NM_001407623.1:c.4117G>T
NM_001407624.1:c.4117G>T
NM_001407625.1:c.4117G>T
NM_001407626.1:c.4117G>T
NM_001407627.1:c.4114G>T
NM_001407628.1:c.4114G>T
NM_001407629.1:c.4114G>T
NM_001407630.1:c.4114G>T
NM_001407631.1:c.4114G>T
NM_001407632.1:c.4114G>T
NM_001407633.1:c.4114G>T
NM_001407634.1:c.4114G>T
NM_001407635.1:c.4114G>T
NM_001407636.1:c.4114G>T
NM_001407637.1:c.4114G>T
NM_001407638.1:c.4114G>T
NM_001407639.1:c.4117G>T
NM_001407640.1:c.4117G>T
NM_001407641.1:c.4117G>T
NM_001407642.1:c.4117G>T
NM_001407644.1:c.4114G>T
NM_001407645.1:c.4114G>T
NM_001407646.1:c.4108G>T
NM_001407647.1:c.4108G>T
NM_001407648.1:c.3994G>T
NM_001407649.1:c.3991G>T
NM_001407652.1:c.4117G>T
NM_001407653.1:c.4039G>T
NM_001407654.1:c.4039G>T
NM_001407655.1:c.4039G>T
NM_001407656.1:c.4039G>T
NM_001407657.1:c.4039G>T
NM_001407658.1:c.4039G>T
NM_001407659.1:c.4036G>T
NM_001407660.1:c.4036G>T
NM_001407661.1:c.4036G>T
NM_001407662.1:c.4036G>T
NM_001407663.1:c.4039G>T
NM_001407664.1:c.3994G>T
NM_001407665.1:c.3994G>T
NM_001407666.1:c.3994G>T
NM_001407667.1:c.3994G>T
NM_001407668.1:c.3994G>T
NM_001407669.1:c.3994G>T
NM_001407670.1:c.3991G>T
NM_001407671.1:c.3991G>T
NM_001407672.1:c.3991G>T
NM_001407673.1:c.3991G>T
NM_001407674.1:c.3994G>T
NM_001407675.1:c.3994G>T
NM_001407676.1:c.3994G>T
NM_001407677.1:c.3994G>T
NM_001407678.1:c.3994G>T
NM_001407679.1:c.3994G>T
NM_001407680.1:c.3994G>T
NM_001407681.1:c.3994G>T
NM_001407682.1:c.3994G>T
NM_001407683.1:c.3994G>T
NM_001407684.1:c.4117G>T
NM_001407685.1:c.3991G>T
NM_001407686.1:c.3991G>T
NM_001407687.1:c.3991G>T
NM_001407688.1:c.3991G>T
NM_001407689.1:c.3991G>T
NM_001407690.1:c.3991G>T
NM_001407691.1:c.3991G>T
NM_001407692.1:c.3976G>T
NM_001407694.1:c.3976G>T
NM_001407695.1:c.3976G>T
NM_001407696.1:c.3976G>T
NM_001407697.1:c.3976G>T
NM_001407698.1:c.3976G>T
NM_001407724.1:c.3976G>T
NM_001407725.1:c.3976G>T
NM_001407726.1:c.3976G>T
NM_001407727.1:c.3976G>T
NM_001407728.1:c.3976G>T
NM_001407729.1:c.3976G>T
NM_001407730.1:c.3976G>T
NM_001407731.1:c.3976G>T
NM_001407732.1:c.3976G>T
NM_001407733.1:c.3976G>T
NM_001407734.1:c.3976G>T
NM_001407735.1:c.3976G>T
NM_001407736.1:c.3976G>T
NM_001407737.1:c.3976G>T
NM_001407738.1:c.3976G>T
NM_001407739.1:c.3976G>T
NM_001407740.1:c.3973G>T
NM_001407741.1:c.3973G>T
NM_001407742.1:c.3973G>T
NM_001407743.1:c.3973G>T
NM_001407744.1:c.3973G>T
NM_001407745.1:c.3973G>T
NM_001407746.1:c.3973G>T
NM_001407747.1:c.3973G>T
NM_001407748.1:c.3973G>T
NM_001407749.1:c.3973G>T
NM_001407750.1:c.3976G>T
NM_001407751.1:c.3976G>T
NM_001407752.1:c.3976G>T
NM_001407838.1:c.3973G>T
NM_001407839.1:c.3973G>T
NM_001407841.1:c.3973G>T
NM_001407842.1:c.3973G>T
NM_001407843.1:c.3973G>T
NM_001407844.1:c.3973G>T
NM_001407845.1:c.3973G>T
NM_001407846.1:c.3973G>T
NM_001407847.1:c.3973G>T
NM_001407848.1:c.3973G>T
NM_001407849.1:c.3973G>T
NM_001407850.1:c.3976G>T
NM_001407851.1:c.3976G>T
NM_001407852.1:c.3976G>T
NM_001407853.1:c.3904G>T
NM_001407854.1:c.4117G>T
NM_001407858.1:c.4117G>T
NM_001407859.1:c.4117G>T
NM_001407860.1:c.4114G>T
NM_001407861.1:c.4114G>T
NM_001407862.1:c.3916G>T
NM_001407863.1:c.3994G>T
NM_001407874.1:c.3913G>T
NM_001407875.1:c.3913G>T
NM_001407879.1:c.3907G>T
NM_001407881.1:c.3907G>T
NM_001407882.1:c.3907G>T
NM_001407884.1:c.3907G>T
NM_001407885.1:c.3907G>T
NM_001407886.1:c.3907G>T
NM_001407887.1:c.3907G>T
NM_001407889.1:c.3907G>T
NM_001407894.1:c.3904G>T
NM_001407895.1:c.3904G>T
NM_001407896.1:c.3904G>T
NM_001407897.1:c.3904G>T
NM_001407898.1:c.3904G>T
NM_001407899.1:c.3904G>T
NM_001407900.1:c.3907G>T
NM_001407902.1:c.3907G>T
NM_001407904.1:c.3907G>T
NM_001407906.1:c.3907G>T
NM_001407907.1:c.3907G>T
NM_001407908.1:c.3907G>T
NM_001407909.1:c.3907G>T
NM_001407910.1:c.3907G>T
NM_001407915.1:c.3904G>T
NM_001407916.1:c.3904G>T
NM_001407917.1:c.3904G>T
NM_001407918.1:c.3904G>T
NM_001407919.1:c.3994G>T
NM_001407920.1:c.3853G>T
NM_001407921.1:c.3853G>T
NM_001407922.1:c.3853G>T
NM_001407923.1:c.3853G>T
NM_001407924.1:c.3853G>T
NM_001407925.1:c.3853G>T
NM_001407926.1:c.3853G>T
NM_001407927.1:c.3853G>T
NM_001407928.1:c.3853G>T
NM_001407929.1:c.3853G>T
NM_001407930.1:c.3850G>T
NM_001407931.1:c.3850G>T
NM_001407932.1:c.3850G>T
NM_001407933.1:c.3853G>T
NM_001407934.1:c.3850G>T
NM_001407935.1:c.3853G>T
NM_001407936.1:c.3850G>T
NM_001407937.1:c.3994G>T
NM_001407938.1:c.3994G>T
NM_001407939.1:c.3994G>T
NM_001407940.1:c.3991G>T
NM_001407941.1:c.3991G>T
NM_001407942.1:c.3976G>T
NM_001407943.1:c.3973G>T
NM_001407944.1:c.3976G>T
NM_001407945.1:c.3976G>T
NM_001407946.1:c.3784G>T
NM_001407947.1:c.3784G>T
NM_001407948.1:c.3784G>T
NM_001407949.1:c.3784G>T
NM_001407950.1:c.3784G>T
NM_001407951.1:c.3784G>T
NM_001407952.1:c.3784G>T
NM_001407953.1:c.3784G>T
NM_001407954.1:c.3781G>T
NM_001407955.1:c.3781G>T
NM_001407956.1:c.3781G>T
NM_001407957.1:c.3784G>T
NM_001407958.1:c.3781G>T
NM_001407959.1:c.3736G>T
NM_001407960.1:c.3736G>T
NM_001407962.1:c.3733G>T
NM_001407963.1:c.3736G>T
NM_001407964.1:c.3973G>T
NM_001407965.1:c.3613G>T
NM_001407966.1:c.3229G>T
NM_001407967.1:c.3229G>T
NM_001407968.1:c.1513G>T
NM_001407969.1:c.1513G>T
NM_001407970.1:c.808G>T
NM_001407971.1:c.808G>T
NM_001407972.1:c.805G>T
NM_001407973.1:c.808G>T
NM_001407974.1:c.808G>T
NM_001407975.1:c.808G>T
NM_001407976.1:c.808G>T
NM_001407977.1:c.808G>T
NM_001407978.1:c.808G>T
NM_001407979.1:c.808G>T
NM_001407980.1:c.808G>T
NM_001407981.1:c.808G>T
NM_001407982.1:c.808G>T
NM_001407983.1:c.808G>T
NM_001407984.1:c.805G>T
NM_001407985.1:c.805G>T
NM_001407986.1:c.805G>T
NM_001407990.1:c.808G>T
NM_001407991.1:c.805G>T
NM_001407992.1:c.805G>T
NM_001407993.1:c.808G>T
NM_001408392.1:c.805G>T
NM_001408396.1:c.805G>T
NM_001408397.1:c.805G>T
NM_001408398.1:c.805G>T
NM_001408399.1:c.805G>T
NM_001408400.1:c.805G>T
NM_001408401.1:c.805G>T
NM_001408402.1:c.805G>T
NM_001408403.1:c.808G>T
NM_001408404.1:c.808G>T
NM_001408406.1:c.802G>T
NM_001408407.1:c.805G>T
NM_001408408.1:c.799G>T
NM_001408409.1:c.730G>T
NM_001408410.1:c.667G>T
NM_001408411.1:c.730G>T
NM_001408412.1:c.730G>T
NM_001408413.1:c.727G>T
NM_001408414.1:c.730G>T
NM_001408415.1:c.730G>T
NM_001408416.1:c.727G>T
NM_001408418.1:c.691G>T
NM_001408419.1:c.691G>T
NM_001408420.1:c.691G>T
NM_001408421.1:c.688G>T
NM_001408422.1:c.691G>T
NM_001408423.1:c.691G>T
NM_001408424.1:c.688G>T
NM_001408425.1:c.685G>T
NM_001408426.1:c.685G>T
NM_001408427.1:c.685G>T
NM_001408428.1:c.685G>T
NM_001408429.1:c.685G>T
NM_001408430.1:c.685G>T
NM_001408431.1:c.688G>T
NM_001408432.1:c.682G>T
NM_001408433.1:c.682G>T
NM_001408434.1:c.682G>T
NM_001408435.1:c.682G>T
NM_001408436.1:c.685G>T
NM_001408437.1:c.685G>T
NM_001408438.1:c.685G>T
NM_001408439.1:c.685G>T
NM_001408440.1:c.685G>T
NM_001408441.1:c.685G>T
NM_001408442.1:c.685G>T
NM_001408443.1:c.685G>T
NM_001408444.1:c.685G>T
NM_001408445.1:c.682G>T
NM_001408446.1:c.682G>T
NM_001408447.1:c.682G>T
NM_001408448.1:c.682G>T
NM_001408450.1:c.682G>T
NM_001408451.1:c.673G>T
NM_001408452.1:c.667G>T
NM_001408453.1:c.667G>T
NM_001408454.1:c.667G>T
NM_001408455.1:c.667G>T
NM_001408456.1:c.667G>T
NM_001408457.1:c.667G>T
NM_001408458.1:c.667G>T
NM_001408459.1:c.667G>T
NM_001408460.1:c.667G>T
NM_001408461.1:c.667G>T
NM_001408462.1:c.664G>T
NM_001408463.1:c.664G>T
NM_001408464.1:c.664G>T
NM_001408465.1:c.664G>T
NM_001408466.1:c.667G>T
NM_001408467.1:c.667G>T
NM_001408468.1:c.664G>T
NM_001408469.1:c.667G>T
NM_001408470.1:c.664G>T
NM_001408472.1:c.808G>T
NM_001408473.1:c.805G>T
NM_001408474.1:c.607G>T
NM_001408475.1:c.604G>T
NM_001408476.1:c.607G>T
NM_001408478.1:c.598G>T
NM_001408479.1:c.598G>T
NM_001408480.1:c.598G>T
NM_001408481.1:c.598G>T
NM_001408482.1:c.598G>T
NM_001408483.1:c.598G>T
NM_001408484.1:c.598G>T
NM_001408485.1:c.598G>T
NM_001408489.1:c.598G>T
NM_001408490.1:c.595G>T
NM_001408491.1:c.595G>T
NM_001408492.1:c.598G>T
NM_001408493.1:c.595G>T
NM_001408494.1:c.568G>T
NM_001408495.1:c.565G>T
NM_001408496.1:c.544G>T
NM_001408497.1:c.544G>T
NM_001408498.1:c.544G>T
NM_001408499.1:c.544G>T
NM_001408500.1:c.544G>T
NM_001408501.1:c.544G>T
NM_001408502.1:c.475G>T
NM_001408503.1:c.541G>T
NM_001408504.1:c.541G>T
NM_001408505.1:c.541G>T
NM_001408506.1:c.481G>T
NM_001408507.1:c.481G>T
NM_001408508.1:c.472G>T
NM_001408509.1:c.472G>T
NM_001408510.1:c.427G>T
NM_001408511.1:c.424G>T
NM_001408512.1:c.304G>T
NM_001408513.1:c.598G>T
NM_001408514.1:c.598G>T
NM_007294.4:c.4117G>TMANE SELECT
NM_007297.4:c.3976G>T
NM_007298.4:c.808G>T
NM_007299.4:c.808G>T
NM_007300.3:c.4117G>T
NM_007300.4:c.4117G>T
NM_007304.2:c.808G>T
NP_001394500.1:p.Glu1302Ter
NP_001394510.1:p.Glu1373Ter
NP_001394511.1:p.Glu1373Ter
NP_001394512.1:p.Glu1373Ter
NP_001394514.1:p.Glu1373Ter
NP_001394516.1:p.Glu1372Ter
NP_001394519.1:p.Glu1372Ter
NP_001394520.1:p.Glu1372Ter
NP_001394522.1:p.Glu1373Ter
NP_001394523.1:p.Glu1373Ter
NP_001394525.1:p.Glu1373Ter
NP_001394526.1:p.Glu1373Ter
NP_001394527.1:p.Glu1373Ter
NP_001394531.1:p.Glu1373Ter
NP_001394532.1:p.Glu1373Ter
NP_001394534.1:p.Glu1373Ter
NP_001394539.1:p.Glu1372Ter
NP_001394540.1:p.Glu1372Ter
NP_001394541.1:p.Glu1372Ter
NP_001394542.1:p.Glu1372Ter
NP_001394543.1:p.Glu1372Ter
NP_001394544.1:p.Glu1372Ter
NP_001394545.1:p.Glu1373Ter
NP_001394546.1:p.Glu1373Ter
NP_001394547.1:p.Glu1373Ter
NP_001394548.1:p.Glu1373Ter
NP_001394549.1:p.Glu1373Ter
NP_001394550.1:p.Glu1373Ter
NP_001394551.1:p.Glu1373Ter
NP_001394552.1:p.Glu1373Ter
NP_001394553.1:p.Glu1373Ter
NP_001394554.1:p.Glu1373Ter
NP_001394555.1:p.Glu1373Ter
NP_001394556.1:p.Glu1372Ter
NP_001394557.1:p.Glu1372Ter
NP_001394558.1:p.Glu1372Ter
NP_001394559.1:p.Glu1372Ter
NP_001394560.1:p.Glu1372Ter
NP_001394561.1:p.Glu1372Ter
NP_001394562.1:p.Glu1372Ter
NP_001394563.1:p.Glu1372Ter
NP_001394564.1:p.Glu1372Ter
NP_001394565.1:p.Glu1372Ter
NP_001394566.1:p.Glu1372Ter
NP_001394567.1:p.Glu1372Ter
NP_001394568.1:p.Glu1373Ter
NP_001394569.1:p.Glu1373Ter
NP_001394570.1:p.Glu1373Ter
NP_001394571.1:p.Glu1373Ter
NP_001394573.1:p.Glu1372Ter
NP_001394574.1:p.Glu1372Ter
NP_001394575.1:p.Glu1370Ter
NP_001394576.1:p.Glu1370Ter
NP_001394577.1:p.Glu1332Ter
NP_001394578.1:p.Glu1331Ter
NP_001394581.1:p.Glu1373Ter
NP_001394582.1:p.Glu1347Ter
NP_001394583.1:p.Glu1347Ter
NP_001394584.1:p.Glu1347Ter
NP_001394585.1:p.Glu1347Ter
NP_001394586.1:p.Glu1347Ter
NP_001394587.1:p.Glu1347Ter
NP_001394588.1:p.Glu1346Ter
NP_001394589.1:p.Glu1346Ter
NP_001394590.1:p.Glu1346Ter
NP_001394591.1:p.Glu1346Ter
NP_001394592.1:p.Glu1347Ter
NP_001394593.1:p.Glu1332Ter
NP_001394594.1:p.Glu1332Ter
NP_001394595.1:p.Glu1332Ter
NP_001394596.1:p.Glu1332Ter
NP_001394597.1:p.Glu1332Ter
NP_001394598.1:p.Glu1332Ter
NP_001394599.1:p.Glu1331Ter
NP_001394600.1:p.Glu1331Ter
NP_001394601.1:p.Glu1331Ter
NP_001394602.1:p.Glu1331Ter
NP_001394603.1:p.Glu1332Ter
NP_001394604.1:p.Glu1332Ter
NP_001394605.1:p.Glu1332Ter
NP_001394606.1:p.Glu1332Ter
NP_001394607.1:p.Glu1332Ter
NP_001394608.1:p.Glu1332Ter
NP_001394609.1:p.Glu1332Ter
NP_001394610.1:p.Glu1332Ter
NP_001394611.1:p.Glu1332Ter
NP_001394612.1:p.Glu1332Ter
NP_001394613.1:p.Glu1373Ter
NP_001394614.1:p.Glu1331Ter
NP_001394615.1:p.Glu1331Ter
NP_001394616.1:p.Glu1331Ter
NP_001394617.1:p.Glu1331Ter
NP_001394618.1:p.Glu1331Ter
NP_001394619.1:p.Glu1331Ter
NP_001394620.1:p.Glu1331Ter
NP_001394621.1:p.Glu1326Ter
NP_001394623.1:p.Glu1326Ter
NP_001394624.1:p.Glu1326Ter
NP_001394625.1:p.Glu1326Ter
NP_001394626.1:p.Glu1326Ter
NP_001394627.1:p.Glu1326Ter
NP_001394653.1:p.Glu1326Ter
NP_001394654.1:p.Glu1326Ter
NP_001394655.1:p.Glu1326Ter
NP_001394656.1:p.Glu1326Ter
NP_001394657.1:p.Glu1326Ter
NP_001394658.1:p.Glu1326Ter
NP_001394659.1:p.Glu1326Ter
NP_001394660.1:p.Glu1326Ter
NP_001394661.1:p.Glu1326Ter
NP_001394662.1:p.Glu1326Ter
NP_001394663.1:p.Glu1326Ter
NP_001394664.1:p.Glu1326Ter
NP_001394665.1:p.Glu1326Ter
NP_001394666.1:p.Glu1326Ter
NP_001394667.1:p.Glu1326Ter
NP_001394668.1:p.Glu1326Ter
NP_001394669.1:p.Glu1325Ter
NP_001394670.1:p.Glu1325Ter
NP_001394671.1:p.Glu1325Ter
NP_001394672.1:p.Glu1325Ter
NP_001394673.1:p.Glu1325Ter
NP_001394674.1:p.Glu1325Ter
NP_001394675.1:p.Glu1325Ter
NP_001394676.1:p.Glu1325Ter
NP_001394677.1:p.Glu1325Ter
NP_001394678.1:p.Glu1325Ter
NP_001394679.1:p.Glu1326Ter
NP_001394680.1:p.Glu1326Ter
NP_001394681.1:p.Glu1326Ter
NP_001394767.1:p.Glu1325Ter
NP_001394768.1:p.Glu1325Ter
NP_001394770.1:p.Glu1325Ter
NP_001394771.1:p.Glu1325Ter
NP_001394772.1:p.Glu1325Ter
NP_001394773.1:p.Glu1325Ter
NP_001394774.1:p.Glu1325Ter
NP_001394775.1:p.Glu1325Ter
NP_001394776.1:p.Glu1325Ter
NP_001394777.1:p.Glu1325Ter
NP_001394778.1:p.Glu1325Ter
NP_001394779.1:p.Glu1326Ter
NP_001394780.1:p.Glu1326Ter
NP_001394781.1:p.Glu1326Ter
NP_001394782.1:p.Glu1302Ter
NP_001394783.1:p.Glu1373Ter
NP_001394787.1:p.Glu1373Ter
NP_001394788.1:p.Glu1373Ter
NP_001394789.1:p.Glu1372Ter
NP_001394790.1:p.Glu1372Ter
NP_001394791.1:p.Glu1306Ter
NP_001394792.1:p.Glu1332Ter
NP_001394803.1:p.Glu1305Ter
NP_001394804.1:p.Glu1305Ter
NP_001394808.1:p.Glu1303Ter
NP_001394810.1:p.Glu1303Ter
NP_001394811.1:p.Glu1303Ter
NP_001394813.1:p.Glu1303Ter
NP_001394814.1:p.Glu1303Ter
NP_001394815.1:p.Glu1303Ter
NP_001394816.1:p.Glu1303Ter
NP_001394818.1:p.Glu1303Ter
NP_001394823.1:p.Glu1302Ter
NP_001394824.1:p.Glu1302Ter
NP_001394825.1:p.Glu1302Ter
NP_001394826.1:p.Glu1302Ter
NP_001394827.1:p.Glu1302Ter
NP_001394828.1:p.Glu1302Ter
NP_001394829.1:p.Glu1303Ter
NP_001394831.1:p.Glu1303Ter
NP_001394833.1:p.Glu1303Ter
NP_001394835.1:p.Glu1303Ter
NP_001394836.1:p.Glu1303Ter
NP_001394837.1:p.Glu1303Ter
NP_001394838.1:p.Glu1303Ter
NP_001394839.1:p.Glu1303Ter
NP_001394844.1:p.Glu1302Ter
NP_001394845.1:p.Glu1302Ter
NP_001394846.1:p.Glu1302Ter
NP_001394847.1:p.Glu1302Ter
NP_001394848.1:p.Glu1332Ter
NP_001394849.1:p.Glu1285Ter
NP_001394850.1:p.Glu1285Ter
NP_001394851.1:p.Glu1285Ter
NP_001394852.1:p.Glu1285Ter
NP_001394853.1:p.Glu1285Ter
NP_001394854.1:p.Glu1285Ter
NP_001394855.1:p.Glu1285Ter
NP_001394856.1:p.Glu1285Ter
NP_001394857.1:p.Glu1285Ter
NP_001394858.1:p.Glu1285Ter
NP_001394859.1:p.Glu1284Ter
NP_001394860.1:p.Glu1284Ter
NP_001394861.1:p.Glu1284Ter
NP_001394862.1:p.Glu1285Ter
NP_001394863.1:p.Glu1284Ter
NP_001394864.1:p.Glu1285Ter
NP_001394865.1:p.Glu1284Ter
NP_001394866.1:p.Glu1332Ter
NP_001394867.1:p.Glu1332Ter
NP_001394868.1:p.Glu1332Ter
NP_001394869.1:p.Glu1331Ter
NP_001394870.1:p.Glu1331Ter
NP_001394871.1:p.Glu1326Ter
NP_001394872.1:p.Glu1325Ter
NP_001394873.1:p.Glu1326Ter
NP_001394874.1:p.Glu1326Ter
NP_001394875.1:p.Glu1262Ter
NP_001394876.1:p.Glu1262Ter
NP_001394877.1:p.Glu1262Ter
NP_001394878.1:p.Glu1262Ter
NP_001394879.1:p.Glu1262Ter
NP_001394880.1:p.Glu1262Ter
NP_001394881.1:p.Glu1262Ter
NP_001394882.1:p.Glu1262Ter
NP_001394883.1:p.Glu1261Ter
NP_001394884.1:p.Glu1261Ter
NP_001394885.1:p.Glu1261Ter
NP_001394886.1:p.Glu1262Ter
NP_001394887.1:p.Glu1261Ter
NP_001394888.1:p.Glu1246Ter
NP_001394889.1:p.Glu1246Ter
NP_001394891.1:p.Glu1245Ter
NP_001394892.1:p.Glu1246Ter
NP_001394893.1:p.Glu1325Ter
NP_001394894.1:p.Glu1205Ter
NP_001394895.1:p.Glu1077Ter
NP_001394896.1:p.Glu1077Ter
NP_001394897.1:p.Glu505Ter
NP_001394898.1:p.Glu505Ter
NP_001394899.1:p.Glu270Ter
NP_001394900.1:p.Glu270Ter
NP_001394901.1:p.Glu269Ter
NP_001394902.1:p.Glu270Ter
NP_001394903.1:p.Glu270Ter
NP_001394904.1:p.Glu270Ter
NP_001394905.1:p.Glu270Ter
NP_001394906.1:p.Glu270Ter
NP_001394907.1:p.Glu270Ter
NP_001394908.1:p.Glu270Ter
NP_001394909.1:p.Glu270Ter
NP_001394910.1:p.Glu270Ter
NP_001394911.1:p.Glu270Ter
NP_001394912.1:p.Glu270Ter
NP_001394913.1:p.Glu269Ter
NP_001394914.1:p.Glu269Ter
NP_001394915.1:p.Glu269Ter
NP_001394919.1:p.Glu270Ter
NP_001394920.1:p.Glu269Ter
NP_001394921.1:p.Glu269Ter
NP_001394922.1:p.Glu270Ter
NP_001395321.1:p.Glu269Ter
NP_001395325.1:p.Glu269Ter
NP_001395326.1:p.Glu269Ter
NP_001395327.1:p.Glu269Ter
NP_001395328.1:p.Glu269Ter
NP_001395329.1:p.Glu269Ter
NP_001395330.1:p.Glu269Ter
NP_001395331.1:p.Glu269Ter
NP_001395332.1:p.Glu270Ter
NP_001395333.1:p.Glu270Ter
NP_001395335.1:p.Glu268Ter
NP_001395336.1:p.Glu269Ter
NP_001395337.1:p.Glu267Ter
NP_001395338.1:p.Glu244Ter
NP_001395339.1:p.Glu223Ter
NP_001395340.1:p.Glu244Ter
NP_001395341.1:p.Glu244Ter
NP_001395342.1:p.Glu243Ter
NP_001395343.1:p.Glu244Ter
NP_001395344.1:p.Glu244Ter
NP_001395345.1:p.Glu243Ter
NP_001395347.1:p.Glu231Ter
NP_001395348.1:p.Glu231Ter
NP_001395349.1:p.Glu231Ter
NP_001395350.1:p.Glu230Ter
NP_001395351.1:p.Glu231Ter
NP_001395352.1:p.Glu231Ter
NP_001395353.1:p.Glu230Ter
NP_001395354.1:p.Glu229Ter
NP_001395355.1:p.Glu229Ter
NP_001395356.1:p.Glu229Ter
NP_001395357.1:p.Glu229Ter
NP_001395358.1:p.Glu229Ter
NP_001395359.1:p.Glu229Ter
NP_001395360.1:p.Glu230Ter
NP_001395361.1:p.Glu228Ter
NP_001395362.1:p.Glu228Ter
NP_001395363.1:p.Glu228Ter
NP_001395364.1:p.Glu228Ter
NP_001395365.1:p.Glu229Ter
NP_001395366.1:p.Glu229Ter
NP_001395367.1:p.Glu229Ter
NP_001395368.1:p.Glu229Ter
NP_001395369.1:p.Glu229Ter
NP_001395370.1:p.Glu229Ter
NP_001395371.1:p.Glu229Ter
NP_001395372.1:p.Glu229Ter
NP_001395373.1:p.Glu229Ter
NP_001395374.1:p.Glu228Ter
NP_001395375.1:p.Glu228Ter
NP_001395376.1:p.Glu228Ter
NP_001395377.1:p.Glu228Ter
NP_001395379.1:p.Glu228Ter
NP_001395380.1:p.Glu225Ter
NP_001395381.1:p.Glu223Ter
NP_001395382.1:p.Glu223Ter
NP_001395383.1:p.Glu223Ter
NP_001395384.1:p.Glu223Ter
NP_001395385.1:p.Glu223Ter
NP_001395386.1:p.Glu223Ter
NP_001395387.1:p.Glu223Ter
NP_001395388.1:p.Glu223Ter
NP_001395389.1:p.Glu223Ter
NP_001395390.1:p.Glu223Ter
NP_001395391.1:p.Glu222Ter
NP_001395392.1:p.Glu222Ter
NP_001395393.1:p.Glu222Ter
NP_001395394.1:p.Glu222Ter
NP_001395395.1:p.Glu223Ter
NP_001395396.1:p.Glu223Ter
NP_001395397.1:p.Glu222Ter
NP_001395398.1:p.Glu223Ter
NP_001395399.1:p.Glu222Ter
NP_001395401.1:p.Glu270Ter
NP_001395402.1:p.Glu269Ter
NP_001395403.1:p.Glu203Ter
NP_001395404.1:p.Glu202Ter
NP_001395405.1:p.Glu203Ter
NP_001395407.1:p.Glu200Ter
NP_001395408.1:p.Glu200Ter
NP_001395409.1:p.Glu200Ter
NP_001395410.1:p.Glu200Ter
NP_001395411.1:p.Glu200Ter
NP_001395412.1:p.Glu200Ter
NP_001395413.1:p.Glu200Ter
NP_001395414.1:p.Glu200Ter
NP_001395418.1:p.Glu200Ter
NP_001395419.1:p.Glu199Ter
NP_001395420.1:p.Glu199Ter
NP_001395421.1:p.Glu200Ter
NP_001395422.1:p.Glu199Ter
NP_001395423.1:p.Glu190Ter
NP_001395424.1:p.Glu189Ter
NP_001395425.1:p.Glu182Ter
NP_001395426.1:p.Glu182Ter
NP_001395427.1:p.Glu182Ter
NP_001395428.1:p.Glu182Ter
NP_001395429.1:p.Glu182Ter
NP_001395430.1:p.Glu182Ter
NP_001395431.1:p.Glu159Ter
NP_001395432.1:p.Glu181Ter
NP_001395433.1:p.Glu181Ter
NP_001395434.1:p.Glu181Ter
NP_001395435.1:p.Glu161Ter
NP_001395436.1:p.Glu161Ter
NP_001395437.1:p.Glu158Ter
NP_001395438.1:p.Glu158Ter
NP_001395439.1:p.Glu143Ter
NP_001395440.1:p.Glu142Ter
NP_001395441.1:p.Glu102Ter
NP_001395442.1:p.Glu200Ter
NP_001395443.1:p.Glu200Ter
NP_009225.1:p.Glu1373Ter
NP_009225.1:p.Glu1373Ter
NP_009228.2:p.Glu1326Ter
NP_009229.2:p.Glu270Ter
NP_009229.2:p.Glu270Ter
NP_009230.2:p.Glu270Ter
NP_009231.2:p.Glu1373Ter
NP_009235.2:p.Glu270Ter
LRG_292t1:c.4117G>T
LRG_292:g.126972G>T
LRG_292p1:p.Glu1373Ter
NC_000017.10:g.41243029C>A
NM_007294.3:c.4117G>T
NM_007294.4:c.4117G>T
NM_007298.3:c.808G>T
NR_027676.2:n.4294G>T
U14680.1:n.4236G>T
p.E1373*
p.Glu1373*

Nucleotide change:

4236G>T

Protein change:

E102*

Links:

dbSNP: rs80357259

NCBI 1000 Genomes Browser:

rs80357259

Molecular consequence:

NR_027676.2:n.4294G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.4108G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.4108G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3613G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.3229G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.3229G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.802G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.799G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.727G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.727G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.673G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.607G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.604G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.607G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.568G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.565G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.475G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.427G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.424G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.304G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

Recent activity

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hypothetical protein [Pantoea phage LIMEzero]
hypothetical protein [Pantoea phage LIMEzero]
gi|332800746|emb|CBY88586.1|

Protein
peptidoglycan domain protein [Erwinia phage phiEaH2]
peptidoglycan domain protein [Erwinia phage phiEaH2]
gi|402761396|gb|AFQ96620.1|

Protein
UDP-glucose ceramide glucosyltransferase-like 1 [Homo sapiens]
UDP-glucose ceramide glucosyltransferase-like 1 [Homo sapiens]
gi|26996810|gb|AAH41098.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053750	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 1, 2012)	germline	clinical testing
SCV000144987	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000300075	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,
SCV000325854	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,
SCV000677652	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Sep 11, 2015)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25525159, 17233897, 11179017, 11938448 Citation Link,
SCV003927265	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 31, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004216888	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 7, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004817709	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 28, 2023)	germline	clinical testing	PubMed (14) [See all records that cite these PMIDs] 11179017, 11773283, 11938448, 16760289, 17233897, 17591842, 17661172, 21989022, 22762150, 26219728, 28486781, 29907814, 30128899, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	15	not provided	108544	not provided	clinical testing, curation
Caucasian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Italian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Western European, Italian	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Western European, Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA.

Am J Hum Genet. 2001 Mar;68(3):700-10. Epub 2001 Feb 15.

PubMed [citation]

PMID:: 11179017
PMCID:: PMC1274482

See all PubMed Citations (15)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053750.5

#	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	not provided	3	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144987.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided
2	Caucasian	1	not provided	not provided	clinical testing	not provided
3	Caucasian	1	not provided	not provided	clinical testing	not provided
4	Italian	1	not provided	not provided	clinical testing	not provided
5	Western European	2	not provided	not provided	clinical testing	not provided
6	Western European, Italian	2	not provided	not provided	clinical testing	not provided
7	Western European, Native American	1	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		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300075.2

#	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, SCV000325854.4

#	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	15	not provided

From Counsyl, SCV000677652.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927265.1

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

Description

A known pathogenic variant was detected in BRCA1 gene (c.4117G>T). This sequence change creates a premature translational stop signal (p.Glul373*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 11179017, 17591842, 26219728). This variant is also known as 4236G>T. ClinVar contains an entry for this variant (Variation ID: 37569). For these reasons, this variant has been classified as Pathogenic.

#	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		1	not provided	not provided	not provided

From Baylor Genetics, SCV004216888.1

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

From All of Us Research Program, National Institutes of Health, SCV004817709.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (14)

Description

The c.4117G>T (p.Glu1373*) variant of the BRCA1 gene creates an early stop codon. It is expected to result in an absent or disrupted protein product. This variant has been reported in multiple individuals with breast and ovarian cancer (PMID: 11179017, 11773283, 11938448, 16760289, 17233897, 17591842, 26219728, 28486781, 29907814, 30128899). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 21989022, 17661172, 22762150). Therefore, the c.4117G>T (p.Glu1373*) variant of the BRCA1 gene is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 13, 2024

Relating variation to medicine