NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 29, 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:: RCV000496276.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)]

NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)

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.4183C>T (p.Gln1395Ter)

Other names:

p.Q1395*:CAG>TAG; p.Gln1395Ter

HGVS:

NC_000017.11:g.43090946G>A
NG_005905.2:g.127038C>T
NM_001407571.1:c.3970C>T
NM_001407581.1:c.4183C>T
NM_001407582.1:c.4183C>T
NM_001407583.1:c.4183C>T
NM_001407585.1:c.4183C>T
NM_001407587.1:c.4180C>T
NM_001407590.1:c.4180C>T
NM_001407591.1:c.4180C>T
NM_001407593.1:c.4183C>T
NM_001407594.1:c.4183C>T
NM_001407596.1:c.4183C>T
NM_001407597.1:c.4183C>T
NM_001407598.1:c.4183C>T
NM_001407602.1:c.4183C>T
NM_001407603.1:c.4183C>T
NM_001407605.1:c.4183C>T
NM_001407610.1:c.4180C>T
NM_001407611.1:c.4180C>T
NM_001407612.1:c.4180C>T
NM_001407613.1:c.4180C>T
NM_001407614.1:c.4180C>T
NM_001407615.1:c.4180C>T
NM_001407616.1:c.4183C>T
NM_001407617.1:c.4183C>T
NM_001407618.1:c.4183C>T
NM_001407619.1:c.4183C>T
NM_001407620.1:c.4183C>T
NM_001407621.1:c.4183C>T
NM_001407622.1:c.4183C>T
NM_001407623.1:c.4183C>T
NM_001407624.1:c.4183C>T
NM_001407625.1:c.4183C>T
NM_001407626.1:c.4183C>T
NM_001407627.1:c.4180C>T
NM_001407628.1:c.4180C>T
NM_001407629.1:c.4180C>T
NM_001407630.1:c.4180C>T
NM_001407631.1:c.4180C>T
NM_001407632.1:c.4180C>T
NM_001407633.1:c.4180C>T
NM_001407634.1:c.4180C>T
NM_001407635.1:c.4180C>T
NM_001407636.1:c.4180C>T
NM_001407637.1:c.4180C>T
NM_001407638.1:c.4180C>T
NM_001407639.1:c.4183C>T
NM_001407640.1:c.4183C>T
NM_001407641.1:c.4183C>T
NM_001407642.1:c.4183C>T
NM_001407644.1:c.4180C>T
NM_001407645.1:c.4180C>T
NM_001407646.1:c.4174C>T
NM_001407647.1:c.4174C>T
NM_001407648.1:c.4060C>T
NM_001407649.1:c.4057C>T
NM_001407652.1:c.4183C>T
NM_001407653.1:c.4105C>T
NM_001407654.1:c.4105C>T
NM_001407655.1:c.4105C>T
NM_001407656.1:c.4105C>T
NM_001407657.1:c.4105C>T
NM_001407658.1:c.4105C>T
NM_001407659.1:c.4102C>T
NM_001407660.1:c.4102C>T
NM_001407661.1:c.4102C>T
NM_001407662.1:c.4102C>T
NM_001407663.1:c.4105C>T
NM_001407664.1:c.4060C>T
NM_001407665.1:c.4060C>T
NM_001407666.1:c.4060C>T
NM_001407667.1:c.4060C>T
NM_001407668.1:c.4060C>T
NM_001407669.1:c.4060C>T
NM_001407670.1:c.4057C>T
NM_001407671.1:c.4057C>T
NM_001407672.1:c.4057C>T
NM_001407673.1:c.4057C>T
NM_001407674.1:c.4060C>T
NM_001407675.1:c.4060C>T
NM_001407676.1:c.4060C>T
NM_001407677.1:c.4060C>T
NM_001407678.1:c.4060C>T
NM_001407679.1:c.4060C>T
NM_001407680.1:c.4060C>T
NM_001407681.1:c.4060C>T
NM_001407682.1:c.4060C>T
NM_001407683.1:c.4060C>T
NM_001407684.1:c.4183C>T
NM_001407685.1:c.4057C>T
NM_001407686.1:c.4057C>T
NM_001407687.1:c.4057C>T
NM_001407688.1:c.4057C>T
NM_001407689.1:c.4057C>T
NM_001407690.1:c.4057C>T
NM_001407691.1:c.4057C>T
NM_001407692.1:c.4042C>T
NM_001407694.1:c.4042C>T
NM_001407695.1:c.4042C>T
NM_001407696.1:c.4042C>T
NM_001407697.1:c.4042C>T
NM_001407698.1:c.4042C>T
NM_001407724.1:c.4042C>T
NM_001407725.1:c.4042C>T
NM_001407726.1:c.4042C>T
NM_001407727.1:c.4042C>T
NM_001407728.1:c.4042C>T
NM_001407729.1:c.4042C>T
NM_001407730.1:c.4042C>T
NM_001407731.1:c.4042C>T
NM_001407732.1:c.4042C>T
NM_001407733.1:c.4042C>T
NM_001407734.1:c.4042C>T
NM_001407735.1:c.4042C>T
NM_001407736.1:c.4042C>T
NM_001407737.1:c.4042C>T
NM_001407738.1:c.4042C>T
NM_001407739.1:c.4042C>T
NM_001407740.1:c.4039C>T
NM_001407741.1:c.4039C>T
NM_001407742.1:c.4039C>T
NM_001407743.1:c.4039C>T
NM_001407744.1:c.4039C>T
NM_001407745.1:c.4039C>T
NM_001407746.1:c.4039C>T
NM_001407747.1:c.4039C>T
NM_001407748.1:c.4039C>T
NM_001407749.1:c.4039C>T
NM_001407750.1:c.4042C>T
NM_001407751.1:c.4042C>T
NM_001407752.1:c.4042C>T
NM_001407838.1:c.4039C>T
NM_001407839.1:c.4039C>T
NM_001407841.1:c.4039C>T
NM_001407842.1:c.4039C>T
NM_001407843.1:c.4039C>T
NM_001407844.1:c.4039C>T
NM_001407845.1:c.4039C>T
NM_001407846.1:c.4039C>T
NM_001407847.1:c.4039C>T
NM_001407848.1:c.4039C>T
NM_001407849.1:c.4039C>T
NM_001407850.1:c.4042C>T
NM_001407851.1:c.4042C>T
NM_001407852.1:c.4042C>T
NM_001407853.1:c.3970C>T
NM_001407854.1:c.4183C>T
NM_001407858.1:c.4183C>T
NM_001407859.1:c.4183C>T
NM_001407860.1:c.4180C>T
NM_001407861.1:c.4180C>T
NM_001407862.1:c.3982C>T
NM_001407863.1:c.4060C>T
NM_001407874.1:c.3979C>T
NM_001407875.1:c.3979C>T
NM_001407879.1:c.3973C>T
NM_001407881.1:c.3973C>T
NM_001407882.1:c.3973C>T
NM_001407884.1:c.3973C>T
NM_001407885.1:c.3973C>T
NM_001407886.1:c.3973C>T
NM_001407887.1:c.3973C>T
NM_001407889.1:c.3973C>T
NM_001407894.1:c.3970C>T
NM_001407895.1:c.3970C>T
NM_001407896.1:c.3970C>T
NM_001407897.1:c.3970C>T
NM_001407898.1:c.3970C>T
NM_001407899.1:c.3970C>T
NM_001407900.1:c.3973C>T
NM_001407902.1:c.3973C>T
NM_001407904.1:c.3973C>T
NM_001407906.1:c.3973C>T
NM_001407907.1:c.3973C>T
NM_001407908.1:c.3973C>T
NM_001407909.1:c.3973C>T
NM_001407910.1:c.3973C>T
NM_001407915.1:c.3970C>T
NM_001407916.1:c.3970C>T
NM_001407917.1:c.3970C>T
NM_001407918.1:c.3970C>T
NM_001407919.1:c.4060C>T
NM_001407920.1:c.3919C>T
NM_001407921.1:c.3919C>T
NM_001407922.1:c.3919C>T
NM_001407923.1:c.3919C>T
NM_001407924.1:c.3919C>T
NM_001407925.1:c.3919C>T
NM_001407926.1:c.3919C>T
NM_001407927.1:c.3919C>T
NM_001407928.1:c.3919C>T
NM_001407929.1:c.3919C>T
NM_001407930.1:c.3916C>T
NM_001407931.1:c.3916C>T
NM_001407932.1:c.3916C>T
NM_001407933.1:c.3919C>T
NM_001407934.1:c.3916C>T
NM_001407935.1:c.3919C>T
NM_001407936.1:c.3916C>T
NM_001407937.1:c.4060C>T
NM_001407938.1:c.4060C>T
NM_001407939.1:c.4060C>T
NM_001407940.1:c.4057C>T
NM_001407941.1:c.4057C>T
NM_001407942.1:c.4042C>T
NM_001407943.1:c.4039C>T
NM_001407944.1:c.4042C>T
NM_001407945.1:c.4042C>T
NM_001407946.1:c.3850C>T
NM_001407947.1:c.3850C>T
NM_001407948.1:c.3850C>T
NM_001407949.1:c.3850C>T
NM_001407950.1:c.3850C>T
NM_001407951.1:c.3850C>T
NM_001407952.1:c.3850C>T
NM_001407953.1:c.3850C>T
NM_001407954.1:c.3847C>T
NM_001407955.1:c.3847C>T
NM_001407956.1:c.3847C>T
NM_001407957.1:c.3850C>T
NM_001407958.1:c.3847C>T
NM_001407959.1:c.3802C>T
NM_001407960.1:c.3802C>T
NM_001407962.1:c.3799C>T
NM_001407963.1:c.3802C>T
NM_001407964.1:c.4039C>T
NM_001407965.1:c.3679C>T
NM_001407966.1:c.3295C>T
NM_001407967.1:c.3295C>T
NM_001407968.1:c.1579C>T
NM_001407969.1:c.1579C>T
NM_001407970.1:c.874C>T
NM_001407971.1:c.874C>T
NM_001407972.1:c.871C>T
NM_001407973.1:c.874C>T
NM_001407974.1:c.874C>T
NM_001407975.1:c.874C>T
NM_001407976.1:c.874C>T
NM_001407977.1:c.874C>T
NM_001407978.1:c.874C>T
NM_001407979.1:c.874C>T
NM_001407980.1:c.874C>T
NM_001407981.1:c.874C>T
NM_001407982.1:c.874C>T
NM_001407983.1:c.874C>T
NM_001407984.1:c.871C>T
NM_001407985.1:c.871C>T
NM_001407986.1:c.871C>T
NM_001407990.1:c.874C>T
NM_001407991.1:c.871C>T
NM_001407992.1:c.871C>T
NM_001407993.1:c.874C>T
NM_001408392.1:c.871C>T
NM_001408396.1:c.871C>T
NM_001408397.1:c.871C>T
NM_001408398.1:c.871C>T
NM_001408399.1:c.871C>T
NM_001408400.1:c.871C>T
NM_001408401.1:c.871C>T
NM_001408402.1:c.871C>T
NM_001408403.1:c.874C>T
NM_001408404.1:c.874C>T
NM_001408406.1:c.868C>T
NM_001408407.1:c.871C>T
NM_001408408.1:c.865C>T
NM_001408409.1:c.796C>T
NM_001408410.1:c.733C>T
NM_001408411.1:c.796C>T
NM_001408412.1:c.796C>T
NM_001408413.1:c.793C>T
NM_001408414.1:c.796C>T
NM_001408415.1:c.796C>T
NM_001408416.1:c.793C>T
NM_001408418.1:c.757C>T
NM_001408419.1:c.757C>T
NM_001408420.1:c.757C>T
NM_001408421.1:c.754C>T
NM_001408422.1:c.757C>T
NM_001408423.1:c.757C>T
NM_001408424.1:c.754C>T
NM_001408425.1:c.751C>T
NM_001408426.1:c.751C>T
NM_001408427.1:c.751C>T
NM_001408428.1:c.751C>T
NM_001408429.1:c.751C>T
NM_001408430.1:c.751C>T
NM_001408431.1:c.754C>T
NM_001408432.1:c.748C>T
NM_001408433.1:c.748C>T
NM_001408434.1:c.748C>T
NM_001408435.1:c.748C>T
NM_001408436.1:c.751C>T
NM_001408437.1:c.751C>T
NM_001408438.1:c.751C>T
NM_001408439.1:c.751C>T
NM_001408440.1:c.751C>T
NM_001408441.1:c.751C>T
NM_001408442.1:c.751C>T
NM_001408443.1:c.751C>T
NM_001408444.1:c.751C>T
NM_001408445.1:c.748C>T
NM_001408446.1:c.748C>T
NM_001408447.1:c.748C>T
NM_001408448.1:c.748C>T
NM_001408450.1:c.748C>T
NM_001408451.1:c.739C>T
NM_001408452.1:c.733C>T
NM_001408453.1:c.733C>T
NM_001408454.1:c.733C>T
NM_001408455.1:c.733C>T
NM_001408456.1:c.733C>T
NM_001408457.1:c.733C>T
NM_001408458.1:c.733C>T
NM_001408459.1:c.733C>T
NM_001408460.1:c.733C>T
NM_001408461.1:c.733C>T
NM_001408462.1:c.730C>T
NM_001408463.1:c.730C>T
NM_001408464.1:c.730C>T
NM_001408465.1:c.730C>T
NM_001408466.1:c.733C>T
NM_001408467.1:c.733C>T
NM_001408468.1:c.730C>T
NM_001408469.1:c.733C>T
NM_001408470.1:c.730C>T
NM_001408472.1:c.874C>T
NM_001408473.1:c.871C>T
NM_001408474.1:c.673C>T
NM_001408475.1:c.670C>T
NM_001408476.1:c.673C>T
NM_001408478.1:c.664C>T
NM_001408479.1:c.664C>T
NM_001408480.1:c.664C>T
NM_001408481.1:c.664C>T
NM_001408482.1:c.664C>T
NM_001408483.1:c.664C>T
NM_001408484.1:c.664C>T
NM_001408485.1:c.664C>T
NM_001408489.1:c.664C>T
NM_001408490.1:c.661C>T
NM_001408491.1:c.661C>T
NM_001408492.1:c.664C>T
NM_001408493.1:c.661C>T
NM_001408494.1:c.634C>T
NM_001408495.1:c.631C>T
NM_001408496.1:c.610C>T
NM_001408497.1:c.610C>T
NM_001408498.1:c.610C>T
NM_001408499.1:c.610C>T
NM_001408500.1:c.610C>T
NM_001408501.1:c.610C>T
NM_001408502.1:c.541C>T
NM_001408503.1:c.607C>T
NM_001408504.1:c.607C>T
NM_001408505.1:c.607C>T
NM_001408506.1:c.547C>T
NM_001408507.1:c.547C>T
NM_001408508.1:c.538C>T
NM_001408509.1:c.538C>T
NM_001408510.1:c.493C>T
NM_001408511.1:c.490C>T
NM_001408512.1:c.370C>T
NM_001408513.1:c.664C>T
NM_001408514.1:c.664C>T
NM_007294.4:c.4183C>TMANE SELECT
NM_007297.4:c.4042C>T
NM_007298.4:c.874C>T
NM_007299.4:c.874C>T
NM_007300.4:c.4183C>T
NM_007304.2:c.874C>T
NP_001394500.1:p.Gln1324Ter
NP_001394510.1:p.Gln1395Ter
NP_001394511.1:p.Gln1395Ter
NP_001394512.1:p.Gln1395Ter
NP_001394514.1:p.Gln1395Ter
NP_001394516.1:p.Gln1394Ter
NP_001394519.1:p.Gln1394Ter
NP_001394520.1:p.Gln1394Ter
NP_001394522.1:p.Gln1395Ter
NP_001394523.1:p.Gln1395Ter
NP_001394525.1:p.Gln1395Ter
NP_001394526.1:p.Gln1395Ter
NP_001394527.1:p.Gln1395Ter
NP_001394531.1:p.Gln1395Ter
NP_001394532.1:p.Gln1395Ter
NP_001394534.1:p.Gln1395Ter
NP_001394539.1:p.Gln1394Ter
NP_001394540.1:p.Gln1394Ter
NP_001394541.1:p.Gln1394Ter
NP_001394542.1:p.Gln1394Ter
NP_001394543.1:p.Gln1394Ter
NP_001394544.1:p.Gln1394Ter
NP_001394545.1:p.Gln1395Ter
NP_001394546.1:p.Gln1395Ter
NP_001394547.1:p.Gln1395Ter
NP_001394548.1:p.Gln1395Ter
NP_001394549.1:p.Gln1395Ter
NP_001394550.1:p.Gln1395Ter
NP_001394551.1:p.Gln1395Ter
NP_001394552.1:p.Gln1395Ter
NP_001394553.1:p.Gln1395Ter
NP_001394554.1:p.Gln1395Ter
NP_001394555.1:p.Gln1395Ter
NP_001394556.1:p.Gln1394Ter
NP_001394557.1:p.Gln1394Ter
NP_001394558.1:p.Gln1394Ter
NP_001394559.1:p.Gln1394Ter
NP_001394560.1:p.Gln1394Ter
NP_001394561.1:p.Gln1394Ter
NP_001394562.1:p.Gln1394Ter
NP_001394563.1:p.Gln1394Ter
NP_001394564.1:p.Gln1394Ter
NP_001394565.1:p.Gln1394Ter
NP_001394566.1:p.Gln1394Ter
NP_001394567.1:p.Gln1394Ter
NP_001394568.1:p.Gln1395Ter
NP_001394569.1:p.Gln1395Ter
NP_001394570.1:p.Gln1395Ter
NP_001394571.1:p.Gln1395Ter
NP_001394573.1:p.Gln1394Ter
NP_001394574.1:p.Gln1394Ter
NP_001394575.1:p.Gln1392Ter
NP_001394576.1:p.Gln1392Ter
NP_001394577.1:p.Gln1354Ter
NP_001394578.1:p.Gln1353Ter
NP_001394581.1:p.Gln1395Ter
NP_001394582.1:p.Gln1369Ter
NP_001394583.1:p.Gln1369Ter
NP_001394584.1:p.Gln1369Ter
NP_001394585.1:p.Gln1369Ter
NP_001394586.1:p.Gln1369Ter
NP_001394587.1:p.Gln1369Ter
NP_001394588.1:p.Gln1368Ter
NP_001394589.1:p.Gln1368Ter
NP_001394590.1:p.Gln1368Ter
NP_001394591.1:p.Gln1368Ter
NP_001394592.1:p.Gln1369Ter
NP_001394593.1:p.Gln1354Ter
NP_001394594.1:p.Gln1354Ter
NP_001394595.1:p.Gln1354Ter
NP_001394596.1:p.Gln1354Ter
NP_001394597.1:p.Gln1354Ter
NP_001394598.1:p.Gln1354Ter
NP_001394599.1:p.Gln1353Ter
NP_001394600.1:p.Gln1353Ter
NP_001394601.1:p.Gln1353Ter
NP_001394602.1:p.Gln1353Ter
NP_001394603.1:p.Gln1354Ter
NP_001394604.1:p.Gln1354Ter
NP_001394605.1:p.Gln1354Ter
NP_001394606.1:p.Gln1354Ter
NP_001394607.1:p.Gln1354Ter
NP_001394608.1:p.Gln1354Ter
NP_001394609.1:p.Gln1354Ter
NP_001394610.1:p.Gln1354Ter
NP_001394611.1:p.Gln1354Ter
NP_001394612.1:p.Gln1354Ter
NP_001394613.1:p.Gln1395Ter
NP_001394614.1:p.Gln1353Ter
NP_001394615.1:p.Gln1353Ter
NP_001394616.1:p.Gln1353Ter
NP_001394617.1:p.Gln1353Ter
NP_001394618.1:p.Gln1353Ter
NP_001394619.1:p.Gln1353Ter
NP_001394620.1:p.Gln1353Ter
NP_001394621.1:p.Gln1348Ter
NP_001394623.1:p.Gln1348Ter
NP_001394624.1:p.Gln1348Ter
NP_001394625.1:p.Gln1348Ter
NP_001394626.1:p.Gln1348Ter
NP_001394627.1:p.Gln1348Ter
NP_001394653.1:p.Gln1348Ter
NP_001394654.1:p.Gln1348Ter
NP_001394655.1:p.Gln1348Ter
NP_001394656.1:p.Gln1348Ter
NP_001394657.1:p.Gln1348Ter
NP_001394658.1:p.Gln1348Ter
NP_001394659.1:p.Gln1348Ter
NP_001394660.1:p.Gln1348Ter
NP_001394661.1:p.Gln1348Ter
NP_001394662.1:p.Gln1348Ter
NP_001394663.1:p.Gln1348Ter
NP_001394664.1:p.Gln1348Ter
NP_001394665.1:p.Gln1348Ter
NP_001394666.1:p.Gln1348Ter
NP_001394667.1:p.Gln1348Ter
NP_001394668.1:p.Gln1348Ter
NP_001394669.1:p.Gln1347Ter
NP_001394670.1:p.Gln1347Ter
NP_001394671.1:p.Gln1347Ter
NP_001394672.1:p.Gln1347Ter
NP_001394673.1:p.Gln1347Ter
NP_001394674.1:p.Gln1347Ter
NP_001394675.1:p.Gln1347Ter
NP_001394676.1:p.Gln1347Ter
NP_001394677.1:p.Gln1347Ter
NP_001394678.1:p.Gln1347Ter
NP_001394679.1:p.Gln1348Ter
NP_001394680.1:p.Gln1348Ter
NP_001394681.1:p.Gln1348Ter
NP_001394767.1:p.Gln1347Ter
NP_001394768.1:p.Gln1347Ter
NP_001394770.1:p.Gln1347Ter
NP_001394771.1:p.Gln1347Ter
NP_001394772.1:p.Gln1347Ter
NP_001394773.1:p.Gln1347Ter
NP_001394774.1:p.Gln1347Ter
NP_001394775.1:p.Gln1347Ter
NP_001394776.1:p.Gln1347Ter
NP_001394777.1:p.Gln1347Ter
NP_001394778.1:p.Gln1347Ter
NP_001394779.1:p.Gln1348Ter
NP_001394780.1:p.Gln1348Ter
NP_001394781.1:p.Gln1348Ter
NP_001394782.1:p.Gln1324Ter
NP_001394783.1:p.Gln1395Ter
NP_001394787.1:p.Gln1395Ter
NP_001394788.1:p.Gln1395Ter
NP_001394789.1:p.Gln1394Ter
NP_001394790.1:p.Gln1394Ter
NP_001394791.1:p.Gln1328Ter
NP_001394792.1:p.Gln1354Ter
NP_001394803.1:p.Gln1327Ter
NP_001394804.1:p.Gln1327Ter
NP_001394808.1:p.Gln1325Ter
NP_001394810.1:p.Gln1325Ter
NP_001394811.1:p.Gln1325Ter
NP_001394813.1:p.Gln1325Ter
NP_001394814.1:p.Gln1325Ter
NP_001394815.1:p.Gln1325Ter
NP_001394816.1:p.Gln1325Ter
NP_001394818.1:p.Gln1325Ter
NP_001394823.1:p.Gln1324Ter
NP_001394824.1:p.Gln1324Ter
NP_001394825.1:p.Gln1324Ter
NP_001394826.1:p.Gln1324Ter
NP_001394827.1:p.Gln1324Ter
NP_001394828.1:p.Gln1324Ter
NP_001394829.1:p.Gln1325Ter
NP_001394831.1:p.Gln1325Ter
NP_001394833.1:p.Gln1325Ter
NP_001394835.1:p.Gln1325Ter
NP_001394836.1:p.Gln1325Ter
NP_001394837.1:p.Gln1325Ter
NP_001394838.1:p.Gln1325Ter
NP_001394839.1:p.Gln1325Ter
NP_001394844.1:p.Gln1324Ter
NP_001394845.1:p.Gln1324Ter
NP_001394846.1:p.Gln1324Ter
NP_001394847.1:p.Gln1324Ter
NP_001394848.1:p.Gln1354Ter
NP_001394849.1:p.Gln1307Ter
NP_001394850.1:p.Gln1307Ter
NP_001394851.1:p.Gln1307Ter
NP_001394852.1:p.Gln1307Ter
NP_001394853.1:p.Gln1307Ter
NP_001394854.1:p.Gln1307Ter
NP_001394855.1:p.Gln1307Ter
NP_001394856.1:p.Gln1307Ter
NP_001394857.1:p.Gln1307Ter
NP_001394858.1:p.Gln1307Ter
NP_001394859.1:p.Gln1306Ter
NP_001394860.1:p.Gln1306Ter
NP_001394861.1:p.Gln1306Ter
NP_001394862.1:p.Gln1307Ter
NP_001394863.1:p.Gln1306Ter
NP_001394864.1:p.Gln1307Ter
NP_001394865.1:p.Gln1306Ter
NP_001394866.1:p.Gln1354Ter
NP_001394867.1:p.Gln1354Ter
NP_001394868.1:p.Gln1354Ter
NP_001394869.1:p.Gln1353Ter
NP_001394870.1:p.Gln1353Ter
NP_001394871.1:p.Gln1348Ter
NP_001394872.1:p.Gln1347Ter
NP_001394873.1:p.Gln1348Ter
NP_001394874.1:p.Gln1348Ter
NP_001394875.1:p.Gln1284Ter
NP_001394876.1:p.Gln1284Ter
NP_001394877.1:p.Gln1284Ter
NP_001394878.1:p.Gln1284Ter
NP_001394879.1:p.Gln1284Ter
NP_001394880.1:p.Gln1284Ter
NP_001394881.1:p.Gln1284Ter
NP_001394882.1:p.Gln1284Ter
NP_001394883.1:p.Gln1283Ter
NP_001394884.1:p.Gln1283Ter
NP_001394885.1:p.Gln1283Ter
NP_001394886.1:p.Gln1284Ter
NP_001394887.1:p.Gln1283Ter
NP_001394888.1:p.Gln1268Ter
NP_001394889.1:p.Gln1268Ter
NP_001394891.1:p.Gln1267Ter
NP_001394892.1:p.Gln1268Ter
NP_001394893.1:p.Gln1347Ter
NP_001394894.1:p.Gln1227Ter
NP_001394895.1:p.Gln1099Ter
NP_001394896.1:p.Gln1099Ter
NP_001394897.1:p.Gln527Ter
NP_001394898.1:p.Gln527Ter
NP_001394899.1:p.Gln292Ter
NP_001394900.1:p.Gln292Ter
NP_001394901.1:p.Gln291Ter
NP_001394902.1:p.Gln292Ter
NP_001394903.1:p.Gln292Ter
NP_001394904.1:p.Gln292Ter
NP_001394905.1:p.Gln292Ter
NP_001394906.1:p.Gln292Ter
NP_001394907.1:p.Gln292Ter
NP_001394908.1:p.Gln292Ter
NP_001394909.1:p.Gln292Ter
NP_001394910.1:p.Gln292Ter
NP_001394911.1:p.Gln292Ter
NP_001394912.1:p.Gln292Ter
NP_001394913.1:p.Gln291Ter
NP_001394914.1:p.Gln291Ter
NP_001394915.1:p.Gln291Ter
NP_001394919.1:p.Gln292Ter
NP_001394920.1:p.Gln291Ter
NP_001394921.1:p.Gln291Ter
NP_001394922.1:p.Gln292Ter
NP_001395321.1:p.Gln291Ter
NP_001395325.1:p.Gln291Ter
NP_001395326.1:p.Gln291Ter
NP_001395327.1:p.Gln291Ter
NP_001395328.1:p.Gln291Ter
NP_001395329.1:p.Gln291Ter
NP_001395330.1:p.Gln291Ter
NP_001395331.1:p.Gln291Ter
NP_001395332.1:p.Gln292Ter
NP_001395333.1:p.Gln292Ter
NP_001395335.1:p.Gln290Ter
NP_001395336.1:p.Gln291Ter
NP_001395337.1:p.Gln289Ter
NP_001395338.1:p.Gln266Ter
NP_001395339.1:p.Gln245Ter
NP_001395340.1:p.Gln266Ter
NP_001395341.1:p.Gln266Ter
NP_001395342.1:p.Gln265Ter
NP_001395343.1:p.Gln266Ter
NP_001395344.1:p.Gln266Ter
NP_001395345.1:p.Gln265Ter
NP_001395347.1:p.Gln253Ter
NP_001395348.1:p.Gln253Ter
NP_001395349.1:p.Gln253Ter
NP_001395350.1:p.Gln252Ter
NP_001395351.1:p.Gln253Ter
NP_001395352.1:p.Gln253Ter
NP_001395353.1:p.Gln252Ter
NP_001395354.1:p.Gln251Ter
NP_001395355.1:p.Gln251Ter
NP_001395356.1:p.Gln251Ter
NP_001395357.1:p.Gln251Ter
NP_001395358.1:p.Gln251Ter
NP_001395359.1:p.Gln251Ter
NP_001395360.1:p.Gln252Ter
NP_001395361.1:p.Gln250Ter
NP_001395362.1:p.Gln250Ter
NP_001395363.1:p.Gln250Ter
NP_001395364.1:p.Gln250Ter
NP_001395365.1:p.Gln251Ter
NP_001395366.1:p.Gln251Ter
NP_001395367.1:p.Gln251Ter
NP_001395368.1:p.Gln251Ter
NP_001395369.1:p.Gln251Ter
NP_001395370.1:p.Gln251Ter
NP_001395371.1:p.Gln251Ter
NP_001395372.1:p.Gln251Ter
NP_001395373.1:p.Gln251Ter
NP_001395374.1:p.Gln250Ter
NP_001395375.1:p.Gln250Ter
NP_001395376.1:p.Gln250Ter
NP_001395377.1:p.Gln250Ter
NP_001395379.1:p.Gln250Ter
NP_001395380.1:p.Gln247Ter
NP_001395381.1:p.Gln245Ter
NP_001395382.1:p.Gln245Ter
NP_001395383.1:p.Gln245Ter
NP_001395384.1:p.Gln245Ter
NP_001395385.1:p.Gln245Ter
NP_001395386.1:p.Gln245Ter
NP_001395387.1:p.Gln245Ter
NP_001395388.1:p.Gln245Ter
NP_001395389.1:p.Gln245Ter
NP_001395390.1:p.Gln245Ter
NP_001395391.1:p.Gln244Ter
NP_001395392.1:p.Gln244Ter
NP_001395393.1:p.Gln244Ter
NP_001395394.1:p.Gln244Ter
NP_001395395.1:p.Gln245Ter
NP_001395396.1:p.Gln245Ter
NP_001395397.1:p.Gln244Ter
NP_001395398.1:p.Gln245Ter
NP_001395399.1:p.Gln244Ter
NP_001395401.1:p.Gln292Ter
NP_001395402.1:p.Gln291Ter
NP_001395403.1:p.Gln225Ter
NP_001395404.1:p.Gln224Ter
NP_001395405.1:p.Gln225Ter
NP_001395407.1:p.Gln222Ter
NP_001395408.1:p.Gln222Ter
NP_001395409.1:p.Gln222Ter
NP_001395410.1:p.Gln222Ter
NP_001395411.1:p.Gln222Ter
NP_001395412.1:p.Gln222Ter
NP_001395413.1:p.Gln222Ter
NP_001395414.1:p.Gln222Ter
NP_001395418.1:p.Gln222Ter
NP_001395419.1:p.Gln221Ter
NP_001395420.1:p.Gln221Ter
NP_001395421.1:p.Gln222Ter
NP_001395422.1:p.Gln221Ter
NP_001395423.1:p.Gln212Ter
NP_001395424.1:p.Gln211Ter
NP_001395425.1:p.Gln204Ter
NP_001395426.1:p.Gln204Ter
NP_001395427.1:p.Gln204Ter
NP_001395428.1:p.Gln204Ter
NP_001395429.1:p.Gln204Ter
NP_001395430.1:p.Gln204Ter
NP_001395431.1:p.Gln181Ter
NP_001395432.1:p.Gln203Ter
NP_001395433.1:p.Gln203Ter
NP_001395434.1:p.Gln203Ter
NP_001395435.1:p.Gln183Ter
NP_001395436.1:p.Gln183Ter
NP_001395437.1:p.Gln180Ter
NP_001395438.1:p.Gln180Ter
NP_001395439.1:p.Gln165Ter
NP_001395440.1:p.Gln164Ter
NP_001395441.1:p.Gln124Ter
NP_001395442.1:p.Gln222Ter
NP_001395443.1:p.Gln222Ter
NP_009225.1:p.Gln1395Ter
NP_009225.1:p.Gln1395Ter
NP_009228.2:p.Gln1348Ter
NP_009229.2:p.Gln292Ter
NP_009229.2:p.Gln292Ter
NP_009230.2:p.Gln292Ter
NP_009231.2:p.Gln1395Ter
NP_009235.2:p.Gln292Ter
LRG_292t1:c.4183C>T
LRG_292:g.127038C>T
LRG_292p1:p.Gln1395Ter
NC_000017.10:g.41242963G>A
NM_007294.3:c.4183C>T
NM_007298.3:c.874C>T
NM_007300.4:c.4183C>T
NR_027676.2:n.4360C>T
U14680.1:n.4302C>T
p.Gln1395*
p.Q1395*

Nucleotide change:

4302C>T

Protein change:

Q1099*

Links:

dbSNP: rs80357260

NCBI 1000 Genomes Browser:

rs80357260

Molecular consequence:

NR_027676.2:n.4360C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.4174C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.4174C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4105C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.4180C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3982C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3979C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3979C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3973C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3970C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3919C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3916C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.4060C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3847C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.4039C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3679C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.3295C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.3295C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1579C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1579C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.868C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.865C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.754C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.754C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.754C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.751C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.748C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.739C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.733C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.730C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.871C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.670C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.634C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.631C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.541C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.607C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.547C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.538C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.493C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.490C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.370C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408513.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001408514.1:c.664C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.4042C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.4183C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.874C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

protein truncation [Variation Ontology: 0015]

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
SCV000587380	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
SCV000699114	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Mar 7, 2021)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 8531967, 11802209, 24728189, 21559243, 29446198 Citation Link,
SCV001581780	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 29, 2024)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 20104584, 8531967, 22006311, 24504028, 26681312, 27553291, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587380

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

SCV000699114

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Mar 7, 2021)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV001581780

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 29, 2024)

germline

clinical testing

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

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

Citations

PubMed

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A; German Consortium for Hereditary Breast and Ovarian Cancer.

Int J Cancer. 2002 Feb 1;97(4):472-80.

PubMed [citation]

PMID:: 11802209

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.

Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.

PubMed [citation]

PMID:: 24728189
PMCID:: PMC4119409

See all PubMed Citations (11)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587380.1

#	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, SCV000699114.2

#	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.4183C>T (p.Gln1395X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4.1e-06 in 245892 control chromosomes. c.4183C>T has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Multiple clinical diagnostic laboratories, one expert panel (ENIGMA) and a consortium (CIMBA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. 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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001581780.4

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

Description

This sequence change creates a premature translational stop signal (p.Gln1395*) 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 present in population databases (rs80357260, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast cancer, ovarian cancer and peritoneal carcinoma (PMID: 8531967, 22006311, 24504028, 26681312, 27553291). This variant is also known as 4302C>T. ClinVar contains an entry for this variant (Variation ID: 55125). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine