NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 11, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000569716.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)]

NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)

HGVS:

NC_000017.11:g.43091627C>A
NG_005905.2:g.126357G>T
NG_087068.1:g.609C>A
NM_001407571.1:c.3691G>T
NM_001407581.1:c.3904G>T
NM_001407582.1:c.3904G>T
NM_001407583.1:c.3904G>T
NM_001407585.1:c.3904G>T
NM_001407587.1:c.3901G>T
NM_001407590.1:c.3901G>T
NM_001407591.1:c.3901G>T
NM_001407593.1:c.3904G>T
NM_001407594.1:c.3904G>T
NM_001407596.1:c.3904G>T
NM_001407597.1:c.3904G>T
NM_001407598.1:c.3904G>T
NM_001407602.1:c.3904G>T
NM_001407603.1:c.3904G>T
NM_001407605.1:c.3904G>T
NM_001407610.1:c.3901G>T
NM_001407611.1:c.3901G>T
NM_001407612.1:c.3901G>T
NM_001407613.1:c.3901G>T
NM_001407614.1:c.3901G>T
NM_001407615.1:c.3901G>T
NM_001407616.1:c.3904G>T
NM_001407617.1:c.3904G>T
NM_001407618.1:c.3904G>T
NM_001407619.1:c.3904G>T
NM_001407620.1:c.3904G>T
NM_001407621.1:c.3904G>T
NM_001407622.1:c.3904G>T
NM_001407623.1:c.3904G>T
NM_001407624.1:c.3904G>T
NM_001407625.1:c.3904G>T
NM_001407626.1:c.3904G>T
NM_001407627.1:c.3901G>T
NM_001407628.1:c.3901G>T
NM_001407629.1:c.3901G>T
NM_001407630.1:c.3901G>T
NM_001407631.1:c.3901G>T
NM_001407632.1:c.3901G>T
NM_001407633.1:c.3901G>T
NM_001407634.1:c.3901G>T
NM_001407635.1:c.3901G>T
NM_001407636.1:c.3901G>T
NM_001407637.1:c.3901G>T
NM_001407638.1:c.3901G>T
NM_001407639.1:c.3904G>T
NM_001407640.1:c.3904G>T
NM_001407641.1:c.3904G>T
NM_001407642.1:c.3904G>T
NM_001407644.1:c.3901G>T
NM_001407645.1:c.3901G>T
NM_001407646.1:c.3895G>T
NM_001407647.1:c.3895G>T
NM_001407648.1:c.3781G>T
NM_001407649.1:c.3778G>T
NM_001407652.1:c.3904G>T
NM_001407653.1:c.3826G>T
NM_001407654.1:c.3826G>T
NM_001407655.1:c.3826G>T
NM_001407656.1:c.3826G>T
NM_001407657.1:c.3826G>T
NM_001407658.1:c.3826G>T
NM_001407659.1:c.3823G>T
NM_001407660.1:c.3823G>T
NM_001407661.1:c.3823G>T
NM_001407662.1:c.3823G>T
NM_001407663.1:c.3826G>T
NM_001407664.1:c.3781G>T
NM_001407665.1:c.3781G>T
NM_001407666.1:c.3781G>T
NM_001407667.1:c.3781G>T
NM_001407668.1:c.3781G>T
NM_001407669.1:c.3781G>T
NM_001407670.1:c.3778G>T
NM_001407671.1:c.3778G>T
NM_001407672.1:c.3778G>T
NM_001407673.1:c.3778G>T
NM_001407674.1:c.3781G>T
NM_001407675.1:c.3781G>T
NM_001407676.1:c.3781G>T
NM_001407677.1:c.3781G>T
NM_001407678.1:c.3781G>T
NM_001407679.1:c.3781G>T
NM_001407680.1:c.3781G>T
NM_001407681.1:c.3781G>T
NM_001407682.1:c.3781G>T
NM_001407683.1:c.3781G>T
NM_001407684.1:c.3904G>T
NM_001407685.1:c.3778G>T
NM_001407686.1:c.3778G>T
NM_001407687.1:c.3778G>T
NM_001407688.1:c.3778G>T
NM_001407689.1:c.3778G>T
NM_001407690.1:c.3778G>T
NM_001407691.1:c.3778G>T
NM_001407692.1:c.3763G>T
NM_001407694.1:c.3763G>T
NM_001407695.1:c.3763G>T
NM_001407696.1:c.3763G>T
NM_001407697.1:c.3763G>T
NM_001407698.1:c.3763G>T
NM_001407724.1:c.3763G>T
NM_001407725.1:c.3763G>T
NM_001407726.1:c.3763G>T
NM_001407727.1:c.3763G>T
NM_001407728.1:c.3763G>T
NM_001407729.1:c.3763G>T
NM_001407730.1:c.3763G>T
NM_001407731.1:c.3763G>T
NM_001407732.1:c.3763G>T
NM_001407733.1:c.3763G>T
NM_001407734.1:c.3763G>T
NM_001407735.1:c.3763G>T
NM_001407736.1:c.3763G>T
NM_001407737.1:c.3763G>T
NM_001407738.1:c.3763G>T
NM_001407739.1:c.3763G>T
NM_001407740.1:c.3760G>T
NM_001407741.1:c.3760G>T
NM_001407742.1:c.3760G>T
NM_001407743.1:c.3760G>T
NM_001407744.1:c.3760G>T
NM_001407745.1:c.3760G>T
NM_001407746.1:c.3760G>T
NM_001407747.1:c.3760G>T
NM_001407748.1:c.3760G>T
NM_001407749.1:c.3760G>T
NM_001407750.1:c.3763G>T
NM_001407751.1:c.3763G>T
NM_001407752.1:c.3763G>T
NM_001407838.1:c.3760G>T
NM_001407839.1:c.3760G>T
NM_001407841.1:c.3760G>T
NM_001407842.1:c.3760G>T
NM_001407843.1:c.3760G>T
NM_001407844.1:c.3760G>T
NM_001407845.1:c.3760G>T
NM_001407846.1:c.3760G>T
NM_001407847.1:c.3760G>T
NM_001407848.1:c.3760G>T
NM_001407849.1:c.3760G>T
NM_001407850.1:c.3763G>T
NM_001407851.1:c.3763G>T
NM_001407852.1:c.3763G>T
NM_001407853.1:c.3691G>T
NM_001407854.1:c.3904G>T
NM_001407858.1:c.3904G>T
NM_001407859.1:c.3904G>T
NM_001407860.1:c.3901G>T
NM_001407861.1:c.3901G>T
NM_001407862.1:c.3703G>T
NM_001407863.1:c.3781G>T
NM_001407874.1:c.3700G>T
NM_001407875.1:c.3700G>T
NM_001407879.1:c.3694G>T
NM_001407881.1:c.3694G>T
NM_001407882.1:c.3694G>T
NM_001407884.1:c.3694G>T
NM_001407885.1:c.3694G>T
NM_001407886.1:c.3694G>T
NM_001407887.1:c.3694G>T
NM_001407889.1:c.3694G>T
NM_001407894.1:c.3691G>T
NM_001407895.1:c.3691G>T
NM_001407896.1:c.3691G>T
NM_001407897.1:c.3691G>T
NM_001407898.1:c.3691G>T
NM_001407899.1:c.3691G>T
NM_001407900.1:c.3694G>T
NM_001407902.1:c.3694G>T
NM_001407904.1:c.3694G>T
NM_001407906.1:c.3694G>T
NM_001407907.1:c.3694G>T
NM_001407908.1:c.3694G>T
NM_001407909.1:c.3694G>T
NM_001407910.1:c.3694G>T
NM_001407915.1:c.3691G>T
NM_001407916.1:c.3691G>T
NM_001407917.1:c.3691G>T
NM_001407918.1:c.3691G>T
NM_001407919.1:c.3781G>T
NM_001407920.1:c.3640G>T
NM_001407921.1:c.3640G>T
NM_001407922.1:c.3640G>T
NM_001407923.1:c.3640G>T
NM_001407924.1:c.3640G>T
NM_001407925.1:c.3640G>T
NM_001407926.1:c.3640G>T
NM_001407927.1:c.3640G>T
NM_001407928.1:c.3640G>T
NM_001407929.1:c.3640G>T
NM_001407930.1:c.3637G>T
NM_001407931.1:c.3637G>T
NM_001407932.1:c.3637G>T
NM_001407933.1:c.3640G>T
NM_001407934.1:c.3637G>T
NM_001407935.1:c.3640G>T
NM_001407936.1:c.3637G>T
NM_001407937.1:c.3781G>T
NM_001407938.1:c.3781G>T
NM_001407939.1:c.3781G>T
NM_001407940.1:c.3778G>T
NM_001407941.1:c.3778G>T
NM_001407942.1:c.3763G>T
NM_001407943.1:c.3760G>T
NM_001407944.1:c.3763G>T
NM_001407945.1:c.3763G>T
NM_001407946.1:c.3571G>T
NM_001407947.1:c.3571G>T
NM_001407948.1:c.3571G>T
NM_001407949.1:c.3571G>T
NM_001407950.1:c.3571G>T
NM_001407951.1:c.3571G>T
NM_001407952.1:c.3571G>T
NM_001407953.1:c.3571G>T
NM_001407954.1:c.3568G>T
NM_001407955.1:c.3568G>T
NM_001407956.1:c.3568G>T
NM_001407957.1:c.3571G>T
NM_001407958.1:c.3568G>T
NM_001407959.1:c.3523G>T
NM_001407960.1:c.3523G>T
NM_001407962.1:c.3520G>T
NM_001407963.1:c.3523G>T
NM_001407964.1:c.3760G>T
NM_001407965.1:c.3400G>T
NM_001407966.1:c.3016G>T
NM_001407967.1:c.3016G>T
NM_001407968.1:c.1300G>T
NM_001407969.1:c.1300G>T
NM_001407970.1:c.788-595G>T
NM_001407971.1:c.788-595G>T
NM_001407972.1:c.785-595G>T
NM_001407973.1:c.788-595G>T
NM_001407974.1:c.788-595G>T
NM_001407975.1:c.788-595G>T
NM_001407976.1:c.788-595G>T
NM_001407977.1:c.788-595G>T
NM_001407978.1:c.788-595G>T
NM_001407979.1:c.788-595G>T
NM_001407980.1:c.788-595G>T
NM_001407981.1:c.788-595G>T
NM_001407982.1:c.788-595G>T
NM_001407983.1:c.788-595G>T
NM_001407984.1:c.785-595G>T
NM_001407985.1:c.785-595G>T
NM_001407986.1:c.785-595G>T
NM_001407990.1:c.788-595G>T
NM_001407991.1:c.785-595G>T
NM_001407992.1:c.785-595G>T
NM_001407993.1:c.788-595G>T
NM_001408392.1:c.785-595G>T
NM_001408396.1:c.785-595G>T
NM_001408397.1:c.785-595G>T
NM_001408398.1:c.785-595G>T
NM_001408399.1:c.785-595G>T
NM_001408400.1:c.785-595G>T
NM_001408401.1:c.785-595G>T
NM_001408402.1:c.785-595G>T
NM_001408403.1:c.788-595G>T
NM_001408404.1:c.788-595G>T
NM_001408406.1:c.791-604G>T
NM_001408407.1:c.785-595G>T
NM_001408408.1:c.779-595G>T
NM_001408409.1:c.710-595G>T
NM_001408410.1:c.647-595G>T
NM_001408411.1:c.710-595G>T
NM_001408412.1:c.710-595G>T
NM_001408413.1:c.707-595G>T
NM_001408414.1:c.710-595G>T
NM_001408415.1:c.710-595G>T
NM_001408416.1:c.707-595G>T
NM_001408418.1:c.671-595G>T
NM_001408419.1:c.671-595G>T
NM_001408420.1:c.671-595G>T
NM_001408421.1:c.668-595G>T
NM_001408422.1:c.671-595G>T
NM_001408423.1:c.671-595G>T
NM_001408424.1:c.668-595G>T
NM_001408425.1:c.665-595G>T
NM_001408426.1:c.665-595G>T
NM_001408427.1:c.665-595G>T
NM_001408428.1:c.665-595G>T
NM_001408429.1:c.665-595G>T
NM_001408430.1:c.665-595G>T
NM_001408431.1:c.668-595G>T
NM_001408432.1:c.662-595G>T
NM_001408433.1:c.662-595G>T
NM_001408434.1:c.662-595G>T
NM_001408435.1:c.662-595G>T
NM_001408436.1:c.665-595G>T
NM_001408437.1:c.665-595G>T
NM_001408438.1:c.665-595G>T
NM_001408439.1:c.665-595G>T
NM_001408440.1:c.665-595G>T
NM_001408441.1:c.665-595G>T
NM_001408442.1:c.665-595G>T
NM_001408443.1:c.665-595G>T
NM_001408444.1:c.665-595G>T
NM_001408445.1:c.662-595G>T
NM_001408446.1:c.662-595G>T
NM_001408447.1:c.662-595G>T
NM_001408448.1:c.662-595G>T
NM_001408450.1:c.662-595G>T
NM_001408451.1:c.653-595G>T
NM_001408452.1:c.647-595G>T
NM_001408453.1:c.647-595G>T
NM_001408454.1:c.647-595G>T
NM_001408455.1:c.647-595G>T
NM_001408456.1:c.647-595G>T
NM_001408457.1:c.647-595G>T
NM_001408458.1:c.647-595G>T
NM_001408459.1:c.647-595G>T
NM_001408460.1:c.647-595G>T
NM_001408461.1:c.647-595G>T
NM_001408462.1:c.644-595G>T
NM_001408463.1:c.644-595G>T
NM_001408464.1:c.644-595G>T
NM_001408465.1:c.644-595G>T
NM_001408466.1:c.647-595G>T
NM_001408467.1:c.647-595G>T
NM_001408468.1:c.644-595G>T
NM_001408469.1:c.647-595G>T
NM_001408470.1:c.644-595G>T
NM_001408472.1:c.788-595G>T
NM_001408473.1:c.785-595G>T
NM_001408474.1:c.587-595G>T
NM_001408475.1:c.584-595G>T
NM_001408476.1:c.587-595G>T
NM_001408478.1:c.578-595G>T
NM_001408479.1:c.578-595G>T
NM_001408480.1:c.578-595G>T
NM_001408481.1:c.578-595G>T
NM_001408482.1:c.578-595G>T
NM_001408483.1:c.578-595G>T
NM_001408484.1:c.578-595G>T
NM_001408485.1:c.578-595G>T
NM_001408489.1:c.578-595G>T
NM_001408490.1:c.575-595G>T
NM_001408491.1:c.575-595G>T
NM_001408492.1:c.578-595G>T
NM_001408493.1:c.575-595G>T
NM_001408494.1:c.548-595G>T
NM_001408495.1:c.545-595G>T
NM_001408496.1:c.524-595G>T
NM_001408497.1:c.524-595G>T
NM_001408498.1:c.524-595G>T
NM_001408499.1:c.524-595G>T
NM_001408500.1:c.524-595G>T
NM_001408501.1:c.524-595G>T
NM_001408502.1:c.455-595G>T
NM_001408503.1:c.521-595G>T
NM_001408504.1:c.521-595G>T
NM_001408505.1:c.521-595G>T
NM_001408506.1:c.461-595G>T
NM_001408507.1:c.461-595G>T
NM_001408508.1:c.452-595G>T
NM_001408509.1:c.452-595G>T
NM_001408510.1:c.407-595G>T
NM_001408511.1:c.404-595G>T
NM_001408512.1:c.284-595G>T
NM_001408513.1:c.578-595G>T
NM_001408514.1:c.578-595G>T
NM_007294.4:c.3904G>TMANE SELECT
NM_007297.4:c.3763G>T
NM_007298.4:c.788-595G>T
NM_007299.4:c.788-595G>T
NM_007300.4:c.3904G>T
NP_001394500.1:p.Glu1231Ter
NP_001394510.1:p.Glu1302Ter
NP_001394511.1:p.Glu1302Ter
NP_001394512.1:p.Glu1302Ter
NP_001394514.1:p.Glu1302Ter
NP_001394516.1:p.Glu1301Ter
NP_001394519.1:p.Glu1301Ter
NP_001394520.1:p.Glu1301Ter
NP_001394522.1:p.Glu1302Ter
NP_001394523.1:p.Glu1302Ter
NP_001394525.1:p.Glu1302Ter
NP_001394526.1:p.Glu1302Ter
NP_001394527.1:p.Glu1302Ter
NP_001394531.1:p.Glu1302Ter
NP_001394532.1:p.Glu1302Ter
NP_001394534.1:p.Glu1302Ter
NP_001394539.1:p.Glu1301Ter
NP_001394540.1:p.Glu1301Ter
NP_001394541.1:p.Glu1301Ter
NP_001394542.1:p.Glu1301Ter
NP_001394543.1:p.Glu1301Ter
NP_001394544.1:p.Glu1301Ter
NP_001394545.1:p.Glu1302Ter
NP_001394546.1:p.Glu1302Ter
NP_001394547.1:p.Glu1302Ter
NP_001394548.1:p.Glu1302Ter
NP_001394549.1:p.Glu1302Ter
NP_001394550.1:p.Glu1302Ter
NP_001394551.1:p.Glu1302Ter
NP_001394552.1:p.Glu1302Ter
NP_001394553.1:p.Glu1302Ter
NP_001394554.1:p.Glu1302Ter
NP_001394555.1:p.Glu1302Ter
NP_001394556.1:p.Glu1301Ter
NP_001394557.1:p.Glu1301Ter
NP_001394558.1:p.Glu1301Ter
NP_001394559.1:p.Glu1301Ter
NP_001394560.1:p.Glu1301Ter
NP_001394561.1:p.Glu1301Ter
NP_001394562.1:p.Glu1301Ter
NP_001394563.1:p.Glu1301Ter
NP_001394564.1:p.Glu1301Ter
NP_001394565.1:p.Glu1301Ter
NP_001394566.1:p.Glu1301Ter
NP_001394567.1:p.Glu1301Ter
NP_001394568.1:p.Glu1302Ter
NP_001394569.1:p.Glu1302Ter
NP_001394570.1:p.Glu1302Ter
NP_001394571.1:p.Glu1302Ter
NP_001394573.1:p.Glu1301Ter
NP_001394574.1:p.Glu1301Ter
NP_001394575.1:p.Glu1299Ter
NP_001394576.1:p.Glu1299Ter
NP_001394577.1:p.Glu1261Ter
NP_001394578.1:p.Glu1260Ter
NP_001394581.1:p.Glu1302Ter
NP_001394582.1:p.Glu1276Ter
NP_001394583.1:p.Glu1276Ter
NP_001394584.1:p.Glu1276Ter
NP_001394585.1:p.Glu1276Ter
NP_001394586.1:p.Glu1276Ter
NP_001394587.1:p.Glu1276Ter
NP_001394588.1:p.Glu1275Ter
NP_001394589.1:p.Glu1275Ter
NP_001394590.1:p.Glu1275Ter
NP_001394591.1:p.Glu1275Ter
NP_001394592.1:p.Glu1276Ter
NP_001394593.1:p.Glu1261Ter
NP_001394594.1:p.Glu1261Ter
NP_001394595.1:p.Glu1261Ter
NP_001394596.1:p.Glu1261Ter
NP_001394597.1:p.Glu1261Ter
NP_001394598.1:p.Glu1261Ter
NP_001394599.1:p.Glu1260Ter
NP_001394600.1:p.Glu1260Ter
NP_001394601.1:p.Glu1260Ter
NP_001394602.1:p.Glu1260Ter
NP_001394603.1:p.Glu1261Ter
NP_001394604.1:p.Glu1261Ter
NP_001394605.1:p.Glu1261Ter
NP_001394606.1:p.Glu1261Ter
NP_001394607.1:p.Glu1261Ter
NP_001394608.1:p.Glu1261Ter
NP_001394609.1:p.Glu1261Ter
NP_001394610.1:p.Glu1261Ter
NP_001394611.1:p.Glu1261Ter
NP_001394612.1:p.Glu1261Ter
NP_001394613.1:p.Glu1302Ter
NP_001394614.1:p.Glu1260Ter
NP_001394615.1:p.Glu1260Ter
NP_001394616.1:p.Glu1260Ter
NP_001394617.1:p.Glu1260Ter
NP_001394618.1:p.Glu1260Ter
NP_001394619.1:p.Glu1260Ter
NP_001394620.1:p.Glu1260Ter
NP_001394621.1:p.Glu1255Ter
NP_001394623.1:p.Glu1255Ter
NP_001394624.1:p.Glu1255Ter
NP_001394625.1:p.Glu1255Ter
NP_001394626.1:p.Glu1255Ter
NP_001394627.1:p.Glu1255Ter
NP_001394653.1:p.Glu1255Ter
NP_001394654.1:p.Glu1255Ter
NP_001394655.1:p.Glu1255Ter
NP_001394656.1:p.Glu1255Ter
NP_001394657.1:p.Glu1255Ter
NP_001394658.1:p.Glu1255Ter
NP_001394659.1:p.Glu1255Ter
NP_001394660.1:p.Glu1255Ter
NP_001394661.1:p.Glu1255Ter
NP_001394662.1:p.Glu1255Ter
NP_001394663.1:p.Glu1255Ter
NP_001394664.1:p.Glu1255Ter
NP_001394665.1:p.Glu1255Ter
NP_001394666.1:p.Glu1255Ter
NP_001394667.1:p.Glu1255Ter
NP_001394668.1:p.Glu1255Ter
NP_001394669.1:p.Glu1254Ter
NP_001394670.1:p.Glu1254Ter
NP_001394671.1:p.Glu1254Ter
NP_001394672.1:p.Glu1254Ter
NP_001394673.1:p.Glu1254Ter
NP_001394674.1:p.Glu1254Ter
NP_001394675.1:p.Glu1254Ter
NP_001394676.1:p.Glu1254Ter
NP_001394677.1:p.Glu1254Ter
NP_001394678.1:p.Glu1254Ter
NP_001394679.1:p.Glu1255Ter
NP_001394680.1:p.Glu1255Ter
NP_001394681.1:p.Glu1255Ter
NP_001394767.1:p.Glu1254Ter
NP_001394768.1:p.Glu1254Ter
NP_001394770.1:p.Glu1254Ter
NP_001394771.1:p.Glu1254Ter
NP_001394772.1:p.Glu1254Ter
NP_001394773.1:p.Glu1254Ter
NP_001394774.1:p.Glu1254Ter
NP_001394775.1:p.Glu1254Ter
NP_001394776.1:p.Glu1254Ter
NP_001394777.1:p.Glu1254Ter
NP_001394778.1:p.Glu1254Ter
NP_001394779.1:p.Glu1255Ter
NP_001394780.1:p.Glu1255Ter
NP_001394781.1:p.Glu1255Ter
NP_001394782.1:p.Glu1231Ter
NP_001394783.1:p.Glu1302Ter
NP_001394787.1:p.Glu1302Ter
NP_001394788.1:p.Glu1302Ter
NP_001394789.1:p.Glu1301Ter
NP_001394790.1:p.Glu1301Ter
NP_001394791.1:p.Glu1235Ter
NP_001394792.1:p.Glu1261Ter
NP_001394803.1:p.Glu1234Ter
NP_001394804.1:p.Glu1234Ter
NP_001394808.1:p.Glu1232Ter
NP_001394810.1:p.Glu1232Ter
NP_001394811.1:p.Glu1232Ter
NP_001394813.1:p.Glu1232Ter
NP_001394814.1:p.Glu1232Ter
NP_001394815.1:p.Glu1232Ter
NP_001394816.1:p.Glu1232Ter
NP_001394818.1:p.Glu1232Ter
NP_001394823.1:p.Glu1231Ter
NP_001394824.1:p.Glu1231Ter
NP_001394825.1:p.Glu1231Ter
NP_001394826.1:p.Glu1231Ter
NP_001394827.1:p.Glu1231Ter
NP_001394828.1:p.Glu1231Ter
NP_001394829.1:p.Glu1232Ter
NP_001394831.1:p.Glu1232Ter
NP_001394833.1:p.Glu1232Ter
NP_001394835.1:p.Glu1232Ter
NP_001394836.1:p.Glu1232Ter
NP_001394837.1:p.Glu1232Ter
NP_001394838.1:p.Glu1232Ter
NP_001394839.1:p.Glu1232Ter
NP_001394844.1:p.Glu1231Ter
NP_001394845.1:p.Glu1231Ter
NP_001394846.1:p.Glu1231Ter
NP_001394847.1:p.Glu1231Ter
NP_001394848.1:p.Glu1261Ter
NP_001394849.1:p.Glu1214Ter
NP_001394850.1:p.Glu1214Ter
NP_001394851.1:p.Glu1214Ter
NP_001394852.1:p.Glu1214Ter
NP_001394853.1:p.Glu1214Ter
NP_001394854.1:p.Glu1214Ter
NP_001394855.1:p.Glu1214Ter
NP_001394856.1:p.Glu1214Ter
NP_001394857.1:p.Glu1214Ter
NP_001394858.1:p.Glu1214Ter
NP_001394859.1:p.Glu1213Ter
NP_001394860.1:p.Glu1213Ter
NP_001394861.1:p.Glu1213Ter
NP_001394862.1:p.Glu1214Ter
NP_001394863.1:p.Glu1213Ter
NP_001394864.1:p.Glu1214Ter
NP_001394865.1:p.Glu1213Ter
NP_001394866.1:p.Glu1261Ter
NP_001394867.1:p.Glu1261Ter
NP_001394868.1:p.Glu1261Ter
NP_001394869.1:p.Glu1260Ter
NP_001394870.1:p.Glu1260Ter
NP_001394871.1:p.Glu1255Ter
NP_001394872.1:p.Glu1254Ter
NP_001394873.1:p.Glu1255Ter
NP_001394874.1:p.Glu1255Ter
NP_001394875.1:p.Glu1191Ter
NP_001394876.1:p.Glu1191Ter
NP_001394877.1:p.Glu1191Ter
NP_001394878.1:p.Glu1191Ter
NP_001394879.1:p.Glu1191Ter
NP_001394880.1:p.Glu1191Ter
NP_001394881.1:p.Glu1191Ter
NP_001394882.1:p.Glu1191Ter
NP_001394883.1:p.Glu1190Ter
NP_001394884.1:p.Glu1190Ter
NP_001394885.1:p.Glu1190Ter
NP_001394886.1:p.Glu1191Ter
NP_001394887.1:p.Glu1190Ter
NP_001394888.1:p.Glu1175Ter
NP_001394889.1:p.Glu1175Ter
NP_001394891.1:p.Glu1174Ter
NP_001394892.1:p.Glu1175Ter
NP_001394893.1:p.Glu1254Ter
NP_001394894.1:p.Glu1134Ter
NP_001394895.1:p.Glu1006Ter
NP_001394896.1:p.Glu1006Ter
NP_001394897.1:p.Glu434Ter
NP_001394898.1:p.Glu434Ter
NP_009225.1:p.Glu1302Ter
NP_009225.1:p.Glu1302Ter
NP_009228.2:p.Glu1255Ter
NP_009231.2:p.Glu1302Ter
LRG_292t1:c.3904G>T
LRG_292:g.126357G>T
LRG_292p1:p.Glu1302Ter
NC_000017.10:g.41243644C>A
NM_007294.3:c.3904G>T
NR_027676.1:n.4040G>T
U14680.1:n.4023G>T

Nucleotide change:

4023G>T

Protein change:

E1006*

Links:

dbSNP: rs80357461

NCBI 1000 Genomes Browser:

rs80357461

Molecular consequence:

NM_001407970.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-604G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-595G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3895G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3895G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3823G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3823G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3823G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3823G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3826G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3703G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3700G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3700G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3694G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3691G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3637G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3637G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3637G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3637G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3637G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3568G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3568G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3568G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3571G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3568G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3523G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3523G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3520G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3523G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3760G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3400G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.3016G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.3016G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1300G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1300G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3763G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000665797	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 11, 2021)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 17688236, 26833046, 29446198, 30128899, 32854451, 33403015, 33471991 Citation Link,
SCV000909286	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 15, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000665797

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 11, 2021)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV000909286

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 15, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

Ramus SJ, Harrington PA, Pye C, DiCioccio RA, Cox MJ, Garlinghouse-Jones K, Oakley-Girvan I, Jacobs IJ, Hardy RM, Whittemore AS, Ponder BA, Piver MS, Pharoah PD, Gayther SA.

Hum Mutat. 2007 Dec;28(12):1207-15.

PubMed [citation]

PMID:: 17688236

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.

Nielsen HR, Nilbert M, Petersen J, Ladelund S, Thomassen M, Pedersen IS, Hansen TV, Skytte AB, Borg Å, Therkildsen C.

Fam Cancer. 2016 Oct;15(4):507-12. doi: 10.1007/s10689-016-9875-7.

PubMed [citation]

PMID:: 26833046

See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000665797.5

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

Description

The p.E1302* pathogenic mutation (also known as c.3904G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 3904. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration has been reported in multiple individuals diagnosed with breast and/or ovarian cancer (Ramus SJ et al. Hum. Mutat. 2007 Dec; 28(12):1207-15; Nielsen HR et al. Fam. Cancer 2016 Feb; Marchetti C et al. Ann Surg Oncol, 2018 Nov;25:3701-3708; Fanale D et al. Cancers (Basel), 2020 Aug;12:; Incorvaia L et al. Ther Adv Med Oncol, 2020 Dec;12:1758835920975326; Dorling et al. N Engl J Med. 2021 02;384:428-439). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV000909286.3

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

Description

This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine