NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jan 4, 2024
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:: RCV000047943.29

Allele description [Variation Report for NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)]

NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)

Other names:

p.E908*:GAA>TAA

HGVS:

NC_000017.11:g.43092809C>A
NG_005905.2:g.125175G>T
NM_001407571.1:c.2509G>T
NM_001407581.1:c.2722G>T
NM_001407582.1:c.2722G>T
NM_001407583.1:c.2722G>T
NM_001407585.1:c.2722G>T
NM_001407587.1:c.2719G>T
NM_001407590.1:c.2719G>T
NM_001407591.1:c.2719G>T
NM_001407593.1:c.2722G>T
NM_001407594.1:c.2722G>T
NM_001407596.1:c.2722G>T
NM_001407597.1:c.2722G>T
NM_001407598.1:c.2722G>T
NM_001407602.1:c.2722G>T
NM_001407603.1:c.2722G>T
NM_001407605.1:c.2722G>T
NM_001407610.1:c.2719G>T
NM_001407611.1:c.2719G>T
NM_001407612.1:c.2719G>T
NM_001407613.1:c.2719G>T
NM_001407614.1:c.2719G>T
NM_001407615.1:c.2719G>T
NM_001407616.1:c.2722G>T
NM_001407617.1:c.2722G>T
NM_001407618.1:c.2722G>T
NM_001407619.1:c.2722G>T
NM_001407620.1:c.2722G>T
NM_001407621.1:c.2722G>T
NM_001407622.1:c.2722G>T
NM_001407623.1:c.2722G>T
NM_001407624.1:c.2722G>T
NM_001407625.1:c.2722G>T
NM_001407626.1:c.2722G>T
NM_001407627.1:c.2719G>T
NM_001407628.1:c.2719G>T
NM_001407629.1:c.2719G>T
NM_001407630.1:c.2719G>T
NM_001407631.1:c.2719G>T
NM_001407632.1:c.2719G>T
NM_001407633.1:c.2719G>T
NM_001407634.1:c.2719G>T
NM_001407635.1:c.2719G>T
NM_001407636.1:c.2719G>T
NM_001407637.1:c.2719G>T
NM_001407638.1:c.2719G>T
NM_001407639.1:c.2722G>T
NM_001407640.1:c.2722G>T
NM_001407641.1:c.2722G>T
NM_001407642.1:c.2722G>T
NM_001407644.1:c.2719G>T
NM_001407645.1:c.2719G>T
NM_001407646.1:c.2713G>T
NM_001407647.1:c.2713G>T
NM_001407648.1:c.2599G>T
NM_001407649.1:c.2596G>T
NM_001407652.1:c.2722G>T
NM_001407653.1:c.2644G>T
NM_001407654.1:c.2644G>T
NM_001407655.1:c.2644G>T
NM_001407656.1:c.2644G>T
NM_001407657.1:c.2644G>T
NM_001407658.1:c.2644G>T
NM_001407659.1:c.2641G>T
NM_001407660.1:c.2641G>T
NM_001407661.1:c.2641G>T
NM_001407662.1:c.2641G>T
NM_001407663.1:c.2644G>T
NM_001407664.1:c.2599G>T
NM_001407665.1:c.2599G>T
NM_001407666.1:c.2599G>T
NM_001407667.1:c.2599G>T
NM_001407668.1:c.2599G>T
NM_001407669.1:c.2599G>T
NM_001407670.1:c.2596G>T
NM_001407671.1:c.2596G>T
NM_001407672.1:c.2596G>T
NM_001407673.1:c.2596G>T
NM_001407674.1:c.2599G>T
NM_001407675.1:c.2599G>T
NM_001407676.1:c.2599G>T
NM_001407677.1:c.2599G>T
NM_001407678.1:c.2599G>T
NM_001407679.1:c.2599G>T
NM_001407680.1:c.2599G>T
NM_001407681.1:c.2599G>T
NM_001407682.1:c.2599G>T
NM_001407683.1:c.2599G>T
NM_001407684.1:c.2722G>T
NM_001407685.1:c.2596G>T
NM_001407686.1:c.2596G>T
NM_001407687.1:c.2596G>T
NM_001407688.1:c.2596G>T
NM_001407689.1:c.2596G>T
NM_001407690.1:c.2596G>T
NM_001407691.1:c.2596G>T
NM_001407692.1:c.2581G>T
NM_001407694.1:c.2581G>T
NM_001407695.1:c.2581G>T
NM_001407696.1:c.2581G>T
NM_001407697.1:c.2581G>T
NM_001407698.1:c.2581G>T
NM_001407724.1:c.2581G>T
NM_001407725.1:c.2581G>T
NM_001407726.1:c.2581G>T
NM_001407727.1:c.2581G>T
NM_001407728.1:c.2581G>T
NM_001407729.1:c.2581G>T
NM_001407730.1:c.2581G>T
NM_001407731.1:c.2581G>T
NM_001407732.1:c.2581G>T
NM_001407733.1:c.2581G>T
NM_001407734.1:c.2581G>T
NM_001407735.1:c.2581G>T
NM_001407736.1:c.2581G>T
NM_001407737.1:c.2581G>T
NM_001407738.1:c.2581G>T
NM_001407739.1:c.2581G>T
NM_001407740.1:c.2578G>T
NM_001407741.1:c.2578G>T
NM_001407742.1:c.2578G>T
NM_001407743.1:c.2578G>T
NM_001407744.1:c.2578G>T
NM_001407745.1:c.2578G>T
NM_001407746.1:c.2578G>T
NM_001407747.1:c.2578G>T
NM_001407748.1:c.2578G>T
NM_001407749.1:c.2578G>T
NM_001407750.1:c.2581G>T
NM_001407751.1:c.2581G>T
NM_001407752.1:c.2581G>T
NM_001407838.1:c.2578G>T
NM_001407839.1:c.2578G>T
NM_001407841.1:c.2578G>T
NM_001407842.1:c.2578G>T
NM_001407843.1:c.2578G>T
NM_001407844.1:c.2578G>T
NM_001407845.1:c.2578G>T
NM_001407846.1:c.2578G>T
NM_001407847.1:c.2578G>T
NM_001407848.1:c.2578G>T
NM_001407849.1:c.2578G>T
NM_001407850.1:c.2581G>T
NM_001407851.1:c.2581G>T
NM_001407852.1:c.2581G>T
NM_001407853.1:c.2509G>T
NM_001407854.1:c.2722G>T
NM_001407858.1:c.2722G>T
NM_001407859.1:c.2722G>T
NM_001407860.1:c.2719G>T
NM_001407861.1:c.2719G>T
NM_001407862.1:c.2521G>T
NM_001407863.1:c.2599G>T
NM_001407874.1:c.2518G>T
NM_001407875.1:c.2518G>T
NM_001407879.1:c.2512G>T
NM_001407881.1:c.2512G>T
NM_001407882.1:c.2512G>T
NM_001407884.1:c.2512G>T
NM_001407885.1:c.2512G>T
NM_001407886.1:c.2512G>T
NM_001407887.1:c.2512G>T
NM_001407889.1:c.2512G>T
NM_001407894.1:c.2509G>T
NM_001407895.1:c.2509G>T
NM_001407896.1:c.2509G>T
NM_001407897.1:c.2509G>T
NM_001407898.1:c.2509G>T
NM_001407899.1:c.2509G>T
NM_001407900.1:c.2512G>T
NM_001407902.1:c.2512G>T
NM_001407904.1:c.2512G>T
NM_001407906.1:c.2512G>T
NM_001407907.1:c.2512G>T
NM_001407908.1:c.2512G>T
NM_001407909.1:c.2512G>T
NM_001407910.1:c.2512G>T
NM_001407915.1:c.2509G>T
NM_001407916.1:c.2509G>T
NM_001407917.1:c.2509G>T
NM_001407918.1:c.2509G>T
NM_001407919.1:c.2599G>T
NM_001407920.1:c.2458G>T
NM_001407921.1:c.2458G>T
NM_001407922.1:c.2458G>T
NM_001407923.1:c.2458G>T
NM_001407924.1:c.2458G>T
NM_001407925.1:c.2458G>T
NM_001407926.1:c.2458G>T
NM_001407927.1:c.2458G>T
NM_001407928.1:c.2458G>T
NM_001407929.1:c.2458G>T
NM_001407930.1:c.2455G>T
NM_001407931.1:c.2455G>T
NM_001407932.1:c.2455G>T
NM_001407933.1:c.2458G>T
NM_001407934.1:c.2455G>T
NM_001407935.1:c.2458G>T
NM_001407936.1:c.2455G>T
NM_001407937.1:c.2599G>T
NM_001407938.1:c.2599G>T
NM_001407939.1:c.2599G>T
NM_001407940.1:c.2596G>T
NM_001407941.1:c.2596G>T
NM_001407942.1:c.2581G>T
NM_001407943.1:c.2578G>T
NM_001407944.1:c.2581G>T
NM_001407945.1:c.2581G>T
NM_001407946.1:c.2389G>T
NM_001407947.1:c.2389G>T
NM_001407948.1:c.2389G>T
NM_001407949.1:c.2389G>T
NM_001407950.1:c.2389G>T
NM_001407951.1:c.2389G>T
NM_001407952.1:c.2389G>T
NM_001407953.1:c.2389G>T
NM_001407954.1:c.2386G>T
NM_001407955.1:c.2386G>T
NM_001407956.1:c.2386G>T
NM_001407957.1:c.2389G>T
NM_001407958.1:c.2386G>T
NM_001407959.1:c.2341G>T
NM_001407960.1:c.2341G>T
NM_001407962.1:c.2338G>T
NM_001407963.1:c.2341G>T
NM_001407964.1:c.2578G>T
NM_001407965.1:c.2218G>T
NM_001407966.1:c.1834G>T
NM_001407967.1:c.1834G>T
NM_001407968.1:c.788-670G>T
NM_001407969.1:c.788-670G>T
NM_001407970.1:c.788-1777G>T
NM_001407971.1:c.788-1777G>T
NM_001407972.1:c.785-1777G>T
NM_001407973.1:c.788-1777G>T
NM_001407974.1:c.788-1777G>T
NM_001407975.1:c.788-1777G>T
NM_001407976.1:c.788-1777G>T
NM_001407977.1:c.788-1777G>T
NM_001407978.1:c.788-1777G>T
NM_001407979.1:c.788-1777G>T
NM_001407980.1:c.788-1777G>T
NM_001407981.1:c.788-1777G>T
NM_001407982.1:c.788-1777G>T
NM_001407983.1:c.788-1777G>T
NM_001407984.1:c.785-1777G>T
NM_001407985.1:c.785-1777G>T
NM_001407986.1:c.785-1777G>T
NM_001407990.1:c.788-1777G>T
NM_001407991.1:c.785-1777G>T
NM_001407992.1:c.785-1777G>T
NM_001407993.1:c.788-1777G>T
NM_001408392.1:c.785-1777G>T
NM_001408396.1:c.785-1777G>T
NM_001408397.1:c.785-1777G>T
NM_001408398.1:c.785-1777G>T
NM_001408399.1:c.785-1777G>T
NM_001408400.1:c.785-1777G>T
NM_001408401.1:c.785-1777G>T
NM_001408402.1:c.785-1777G>T
NM_001408403.1:c.788-1777G>T
NM_001408404.1:c.788-1777G>T
NM_001408406.1:c.791-1786G>T
NM_001408407.1:c.785-1777G>T
NM_001408408.1:c.779-1777G>T
NM_001408409.1:c.710-1777G>T
NM_001408410.1:c.647-1777G>T
NM_001408411.1:c.710-1777G>T
NM_001408412.1:c.710-1777G>T
NM_001408413.1:c.707-1777G>T
NM_001408414.1:c.710-1777G>T
NM_001408415.1:c.710-1777G>T
NM_001408416.1:c.707-1777G>T
NM_001408418.1:c.671-1777G>T
NM_001408419.1:c.671-1777G>T
NM_001408420.1:c.671-1777G>T
NM_001408421.1:c.668-1777G>T
NM_001408422.1:c.671-1777G>T
NM_001408423.1:c.671-1777G>T
NM_001408424.1:c.668-1777G>T
NM_001408425.1:c.665-1777G>T
NM_001408426.1:c.665-1777G>T
NM_001408427.1:c.665-1777G>T
NM_001408428.1:c.665-1777G>T
NM_001408429.1:c.665-1777G>T
NM_001408430.1:c.665-1777G>T
NM_001408431.1:c.668-1777G>T
NM_001408432.1:c.662-1777G>T
NM_001408433.1:c.662-1777G>T
NM_001408434.1:c.662-1777G>T
NM_001408435.1:c.662-1777G>T
NM_001408436.1:c.665-1777G>T
NM_001408437.1:c.665-1777G>T
NM_001408438.1:c.665-1777G>T
NM_001408439.1:c.665-1777G>T
NM_001408440.1:c.665-1777G>T
NM_001408441.1:c.665-1777G>T
NM_001408442.1:c.665-1777G>T
NM_001408443.1:c.665-1777G>T
NM_001408444.1:c.665-1777G>T
NM_001408445.1:c.662-1777G>T
NM_001408446.1:c.662-1777G>T
NM_001408447.1:c.662-1777G>T
NM_001408448.1:c.662-1777G>T
NM_001408450.1:c.662-1777G>T
NM_001408451.1:c.653-1777G>T
NM_001408452.1:c.647-1777G>T
NM_001408453.1:c.647-1777G>T
NM_001408454.1:c.647-1777G>T
NM_001408455.1:c.647-1777G>T
NM_001408456.1:c.647-1777G>T
NM_001408457.1:c.647-1777G>T
NM_001408458.1:c.647-1777G>T
NM_001408459.1:c.647-1777G>T
NM_001408460.1:c.647-1777G>T
NM_001408461.1:c.647-1777G>T
NM_001408462.1:c.644-1777G>T
NM_001408463.1:c.644-1777G>T
NM_001408464.1:c.644-1777G>T
NM_001408465.1:c.644-1777G>T
NM_001408466.1:c.647-1777G>T
NM_001408467.1:c.647-1777G>T
NM_001408468.1:c.644-1777G>T
NM_001408469.1:c.647-1777G>T
NM_001408470.1:c.644-1777G>T
NM_001408472.1:c.788-1777G>T
NM_001408473.1:c.785-1777G>T
NM_001408474.1:c.587-1777G>T
NM_001408475.1:c.584-1777G>T
NM_001408476.1:c.587-1777G>T
NM_001408478.1:c.578-1777G>T
NM_001408479.1:c.578-1777G>T
NM_001408480.1:c.578-1777G>T
NM_001408481.1:c.578-1777G>T
NM_001408482.1:c.578-1777G>T
NM_001408483.1:c.578-1777G>T
NM_001408484.1:c.578-1777G>T
NM_001408485.1:c.578-1777G>T
NM_001408489.1:c.578-1777G>T
NM_001408490.1:c.575-1777G>T
NM_001408491.1:c.575-1777G>T
NM_001408492.1:c.578-1777G>T
NM_001408493.1:c.575-1777G>T
NM_001408494.1:c.548-1777G>T
NM_001408495.1:c.545-1777G>T
NM_001408496.1:c.524-1777G>T
NM_001408497.1:c.524-1777G>T
NM_001408498.1:c.524-1777G>T
NM_001408499.1:c.524-1777G>T
NM_001408500.1:c.524-1777G>T
NM_001408501.1:c.524-1777G>T
NM_001408502.1:c.455-1777G>T
NM_001408503.1:c.521-1777G>T
NM_001408504.1:c.521-1777G>T
NM_001408505.1:c.521-1777G>T
NM_001408506.1:c.461-1777G>T
NM_001408507.1:c.461-1777G>T
NM_001408508.1:c.452-1777G>T
NM_001408509.1:c.452-1777G>T
NM_001408510.1:c.407-1777G>T
NM_001408511.1:c.404-1777G>T
NM_001408512.1:c.284-1777G>T
NM_001408513.1:c.578-1777G>T
NM_001408514.1:c.578-1777G>T
NM_007294.4:c.2722G>TMANE SELECT
NM_007297.4:c.2581G>T
NM_007298.4:c.788-1777G>T
NM_007299.4:c.788-1777G>T
NM_007300.4:c.2722G>T
NP_001394500.1:p.Glu837Ter
NP_001394510.1:p.Glu908Ter
NP_001394511.1:p.Glu908Ter
NP_001394512.1:p.Glu908Ter
NP_001394514.1:p.Glu908Ter
NP_001394516.1:p.Glu907Ter
NP_001394519.1:p.Glu907Ter
NP_001394520.1:p.Glu907Ter
NP_001394522.1:p.Glu908Ter
NP_001394523.1:p.Glu908Ter
NP_001394525.1:p.Glu908Ter
NP_001394526.1:p.Glu908Ter
NP_001394527.1:p.Glu908Ter
NP_001394531.1:p.Glu908Ter
NP_001394532.1:p.Glu908Ter
NP_001394534.1:p.Glu908Ter
NP_001394539.1:p.Glu907Ter
NP_001394540.1:p.Glu907Ter
NP_001394541.1:p.Glu907Ter
NP_001394542.1:p.Glu907Ter
NP_001394543.1:p.Glu907Ter
NP_001394544.1:p.Glu907Ter
NP_001394545.1:p.Glu908Ter
NP_001394546.1:p.Glu908Ter
NP_001394547.1:p.Glu908Ter
NP_001394548.1:p.Glu908Ter
NP_001394549.1:p.Glu908Ter
NP_001394550.1:p.Glu908Ter
NP_001394551.1:p.Glu908Ter
NP_001394552.1:p.Glu908Ter
NP_001394553.1:p.Glu908Ter
NP_001394554.1:p.Glu908Ter
NP_001394555.1:p.Glu908Ter
NP_001394556.1:p.Glu907Ter
NP_001394557.1:p.Glu907Ter
NP_001394558.1:p.Glu907Ter
NP_001394559.1:p.Glu907Ter
NP_001394560.1:p.Glu907Ter
NP_001394561.1:p.Glu907Ter
NP_001394562.1:p.Glu907Ter
NP_001394563.1:p.Glu907Ter
NP_001394564.1:p.Glu907Ter
NP_001394565.1:p.Glu907Ter
NP_001394566.1:p.Glu907Ter
NP_001394567.1:p.Glu907Ter
NP_001394568.1:p.Glu908Ter
NP_001394569.1:p.Glu908Ter
NP_001394570.1:p.Glu908Ter
NP_001394571.1:p.Glu908Ter
NP_001394573.1:p.Glu907Ter
NP_001394574.1:p.Glu907Ter
NP_001394575.1:p.Glu905Ter
NP_001394576.1:p.Glu905Ter
NP_001394577.1:p.Glu867Ter
NP_001394578.1:p.Glu866Ter
NP_001394581.1:p.Glu908Ter
NP_001394582.1:p.Glu882Ter
NP_001394583.1:p.Glu882Ter
NP_001394584.1:p.Glu882Ter
NP_001394585.1:p.Glu882Ter
NP_001394586.1:p.Glu882Ter
NP_001394587.1:p.Glu882Ter
NP_001394588.1:p.Glu881Ter
NP_001394589.1:p.Glu881Ter
NP_001394590.1:p.Glu881Ter
NP_001394591.1:p.Glu881Ter
NP_001394592.1:p.Glu882Ter
NP_001394593.1:p.Glu867Ter
NP_001394594.1:p.Glu867Ter
NP_001394595.1:p.Glu867Ter
NP_001394596.1:p.Glu867Ter
NP_001394597.1:p.Glu867Ter
NP_001394598.1:p.Glu867Ter
NP_001394599.1:p.Glu866Ter
NP_001394600.1:p.Glu866Ter
NP_001394601.1:p.Glu866Ter
NP_001394602.1:p.Glu866Ter
NP_001394603.1:p.Glu867Ter
NP_001394604.1:p.Glu867Ter
NP_001394605.1:p.Glu867Ter
NP_001394606.1:p.Glu867Ter
NP_001394607.1:p.Glu867Ter
NP_001394608.1:p.Glu867Ter
NP_001394609.1:p.Glu867Ter
NP_001394610.1:p.Glu867Ter
NP_001394611.1:p.Glu867Ter
NP_001394612.1:p.Glu867Ter
NP_001394613.1:p.Glu908Ter
NP_001394614.1:p.Glu866Ter
NP_001394615.1:p.Glu866Ter
NP_001394616.1:p.Glu866Ter
NP_001394617.1:p.Glu866Ter
NP_001394618.1:p.Glu866Ter
NP_001394619.1:p.Glu866Ter
NP_001394620.1:p.Glu866Ter
NP_001394621.1:p.Glu861Ter
NP_001394623.1:p.Glu861Ter
NP_001394624.1:p.Glu861Ter
NP_001394625.1:p.Glu861Ter
NP_001394626.1:p.Glu861Ter
NP_001394627.1:p.Glu861Ter
NP_001394653.1:p.Glu861Ter
NP_001394654.1:p.Glu861Ter
NP_001394655.1:p.Glu861Ter
NP_001394656.1:p.Glu861Ter
NP_001394657.1:p.Glu861Ter
NP_001394658.1:p.Glu861Ter
NP_001394659.1:p.Glu861Ter
NP_001394660.1:p.Glu861Ter
NP_001394661.1:p.Glu861Ter
NP_001394662.1:p.Glu861Ter
NP_001394663.1:p.Glu861Ter
NP_001394664.1:p.Glu861Ter
NP_001394665.1:p.Glu861Ter
NP_001394666.1:p.Glu861Ter
NP_001394667.1:p.Glu861Ter
NP_001394668.1:p.Glu861Ter
NP_001394669.1:p.Glu860Ter
NP_001394670.1:p.Glu860Ter
NP_001394671.1:p.Glu860Ter
NP_001394672.1:p.Glu860Ter
NP_001394673.1:p.Glu860Ter
NP_001394674.1:p.Glu860Ter
NP_001394675.1:p.Glu860Ter
NP_001394676.1:p.Glu860Ter
NP_001394677.1:p.Glu860Ter
NP_001394678.1:p.Glu860Ter
NP_001394679.1:p.Glu861Ter
NP_001394680.1:p.Glu861Ter
NP_001394681.1:p.Glu861Ter
NP_001394767.1:p.Glu860Ter
NP_001394768.1:p.Glu860Ter
NP_001394770.1:p.Glu860Ter
NP_001394771.1:p.Glu860Ter
NP_001394772.1:p.Glu860Ter
NP_001394773.1:p.Glu860Ter
NP_001394774.1:p.Glu860Ter
NP_001394775.1:p.Glu860Ter
NP_001394776.1:p.Glu860Ter
NP_001394777.1:p.Glu860Ter
NP_001394778.1:p.Glu860Ter
NP_001394779.1:p.Glu861Ter
NP_001394780.1:p.Glu861Ter
NP_001394781.1:p.Glu861Ter
NP_001394782.1:p.Glu837Ter
NP_001394783.1:p.Glu908Ter
NP_001394787.1:p.Glu908Ter
NP_001394788.1:p.Glu908Ter
NP_001394789.1:p.Glu907Ter
NP_001394790.1:p.Glu907Ter
NP_001394791.1:p.Glu841Ter
NP_001394792.1:p.Glu867Ter
NP_001394803.1:p.Glu840Ter
NP_001394804.1:p.Glu840Ter
NP_001394808.1:p.Glu838Ter
NP_001394810.1:p.Glu838Ter
NP_001394811.1:p.Glu838Ter
NP_001394813.1:p.Glu838Ter
NP_001394814.1:p.Glu838Ter
NP_001394815.1:p.Glu838Ter
NP_001394816.1:p.Glu838Ter
NP_001394818.1:p.Glu838Ter
NP_001394823.1:p.Glu837Ter
NP_001394824.1:p.Glu837Ter
NP_001394825.1:p.Glu837Ter
NP_001394826.1:p.Glu837Ter
NP_001394827.1:p.Glu837Ter
NP_001394828.1:p.Glu837Ter
NP_001394829.1:p.Glu838Ter
NP_001394831.1:p.Glu838Ter
NP_001394833.1:p.Glu838Ter
NP_001394835.1:p.Glu838Ter
NP_001394836.1:p.Glu838Ter
NP_001394837.1:p.Glu838Ter
NP_001394838.1:p.Glu838Ter
NP_001394839.1:p.Glu838Ter
NP_001394844.1:p.Glu837Ter
NP_001394845.1:p.Glu837Ter
NP_001394846.1:p.Glu837Ter
NP_001394847.1:p.Glu837Ter
NP_001394848.1:p.Glu867Ter
NP_001394849.1:p.Glu820Ter
NP_001394850.1:p.Glu820Ter
NP_001394851.1:p.Glu820Ter
NP_001394852.1:p.Glu820Ter
NP_001394853.1:p.Glu820Ter
NP_001394854.1:p.Glu820Ter
NP_001394855.1:p.Glu820Ter
NP_001394856.1:p.Glu820Ter
NP_001394857.1:p.Glu820Ter
NP_001394858.1:p.Glu820Ter
NP_001394859.1:p.Glu819Ter
NP_001394860.1:p.Glu819Ter
NP_001394861.1:p.Glu819Ter
NP_001394862.1:p.Glu820Ter
NP_001394863.1:p.Glu819Ter
NP_001394864.1:p.Glu820Ter
NP_001394865.1:p.Glu819Ter
NP_001394866.1:p.Glu867Ter
NP_001394867.1:p.Glu867Ter
NP_001394868.1:p.Glu867Ter
NP_001394869.1:p.Glu866Ter
NP_001394870.1:p.Glu866Ter
NP_001394871.1:p.Glu861Ter
NP_001394872.1:p.Glu860Ter
NP_001394873.1:p.Glu861Ter
NP_001394874.1:p.Glu861Ter
NP_001394875.1:p.Glu797Ter
NP_001394876.1:p.Glu797Ter
NP_001394877.1:p.Glu797Ter
NP_001394878.1:p.Glu797Ter
NP_001394879.1:p.Glu797Ter
NP_001394880.1:p.Glu797Ter
NP_001394881.1:p.Glu797Ter
NP_001394882.1:p.Glu797Ter
NP_001394883.1:p.Glu796Ter
NP_001394884.1:p.Glu796Ter
NP_001394885.1:p.Glu796Ter
NP_001394886.1:p.Glu797Ter
NP_001394887.1:p.Glu796Ter
NP_001394888.1:p.Glu781Ter
NP_001394889.1:p.Glu781Ter
NP_001394891.1:p.Glu780Ter
NP_001394892.1:p.Glu781Ter
NP_001394893.1:p.Glu860Ter
NP_001394894.1:p.Glu740Ter
NP_001394895.1:p.Glu612Ter
NP_001394896.1:p.Glu612Ter
NP_009225.1:p.Glu908Ter
NP_009225.1:p.Glu908Ter
NP_009228.2:p.Glu861Ter
NP_009231.2:p.Glu908Ter
LRG_292t1:c.2722G>T
LRG_292:g.125175G>T
LRG_292p1:p.Glu908Ter
NC_000017.10:g.41244826C>A
NM_007294.2:c.2722G>T
NM_007294.3:c.2722G>T
NM_007294.4:c.2722G>T
NM_007300.3:c.2722G>T
NR_027676.1:n.2858G>T
U14680.1:n.2841G>T
p.E908*
p.Glu908*
p.Glu908X

Nucleotide change:

2841G>T

Protein change:

E612*

Links:

dbSNP: rs80356978

NCBI 1000 Genomes Browser:

rs80356978

Molecular consequence:

NM_001407968.1:c.788-670G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-670G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1786G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1777G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.2641G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.2644G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.2719G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2521G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2518G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2518G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2512G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2509G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2458G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2455G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.2599G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.2596G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2389G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2386G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2338G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2341G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.2578G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2218G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.1834G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.1834G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.2581G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.2722G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000075956	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 4, 2024)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 20104584, 8554067, 19016756, 19949876, 25880076, 28492532
SCV000494392	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Aug 15, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20104584, 8554067, 14760071, 11597388 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV000587250	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
SCV000605746	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Oct 4, 2016)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25880076, 25452441, 8554067, 24033266

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	3	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

Sugano K, Nakamura S, Ando J, Takayama S, Kamata H, Sekiguchi I, Ubukata M, Kodama T, Arai M, Kasumi F, Hirai Y, Ikeda T, Jinno H, Kitajima M, Aoki D, Hirasawa A, Takeda Y, Yazaki K, Fukutomi T, Kinoshita T, Tsunematsu R, Yoshida T, et al.

Cancer Sci. 2008 Oct;99(10):1967-76. doi: 10.1111/j.1349-7006.2008.00944.x.

PubMed [citation]

PMID:: 19016756
PMCID:: PMC11158907

Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.

van Harssel JJ, van Roozendaal CE, Detisch Y, Brandão RD, Paulussen AD, Zeegers M, Blok MJ, Gómez García EB.

Fam Cancer. 2010 Jun;9(2):193-201. doi: 10.1007/s10689-009-9305-1.

PubMed [citation]

PMID:: 19949876
PMCID:: PMC2871096

See all PubMed Citations (10)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000075956.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Glu908*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer and glioblastoma (PMID: 8554067, 19016756, 19949876, 25880076). This variant is also known as 2841G>T. ClinVar contains an entry for this variant (Variation ID: 54657). 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000494392.2

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

Description

Variant summary: The BRCA1 c.2722G>T (p.Glu908X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. If a stable protein is made, Glu908X is predicted to eliminate the BRCT domain. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Val923fsX76, p.Asp936fsX63, etc.). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121362 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant was cited in multiple HBOC patients in the literature and was shown to co-segregate with disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, 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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587250.1

#	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000605746.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (4)

Description

The p.Glu908X variant in BRCA1 has been reported in >60 individuals with BRCA1-a ssociated cancers (Serova 1996, Couch 2015, Boukerroucha 2015, Breast Cancer Inf ormation Core (BIC), Sharing Clinical Reports Project). This variant has been id entified in 1/8600 European chromosomes by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs80356978). This nonsense variant leads to a premature termination codon at position 908, 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 individuals with hereditary breast and ov arian cancer (HBOC). In addition, this variant was classified as Pathogenic on S eptember 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV0002998 19.2). In summary, this variant meets our criteria to be classified as pathogeni c for HBOC in an autosomal dominant manner.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		3	not provided	2	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine