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

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Nov 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000496224.20

Allele description

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 breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587357	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000918798	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Nov 24, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16267036, 22762150, 17688236, 15781624, 29446198 Citation Link,
SCV001586045	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 17, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20104584, 17688236, 28492532
SCV004848205	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 9, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 11556835, 17688236, 26833046, 25741868

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, et al.

Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.

PubMed [citation]

PMID:: 22762150
PMCID:: PMC3680948

See all PubMed Citations (10)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587357.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918798.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Variant summary: BRCA1 c.3904G>T (p.Glu1302X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251170 control chromosomes. c.3904G>T has been reported in the literature in multiple individuals affected with or with family history of Hereditary Breast And Ovarian Cancer Syndrome (HBOC) (e.g. Judkins_2005, Lecarpentier_2012, Ramus_2007, Sirchia_2005, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (e.g. Sirchia_2005). Seven submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was 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

From Invitae, SCV001586045.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu1302*) 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 cancer (PMID: 17688236). ClinVar contains an entry for this variant (Variation ID: 55045). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848205.1

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

Description

The p.Glu1302X variant in BRCA1 has been reported in at least 3 individuals with breast cancer, and segregated with disease in one affected relative (Casadei 2001, Nielsen 2016, Ramus 2017). In addition, this variant was classified as Pathogenic on September 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000300040.2) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1302 which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in hereditary breast and ovariant cancer. In summary, this variant meets criteria to be classified as pathogenic for hereditary breast and ovarian cancer in an autosomal dominant manner based case reports, absence from controls and predicted impact on protein. ACMG/AMP Criteria applied: PM2,PVS1, PS4_Supporting.

#	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: Sep 16, 2024

ClinVar

Relating variation to medicine