NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 1, 2020
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:: RCV000212166.24

Allele description [Variation Report for NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)]

NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)

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.2017G>T (p.Glu673Ter)

Other names:

p.E673*:GAA>TAA

HGVS:

NC_000017.11:g.43093514C>A
NG_005905.2:g.124470G>T
NM_001407571.1:c.1804G>T
NM_001407581.1:c.2017G>T
NM_001407582.1:c.2017G>T
NM_001407583.1:c.2017G>T
NM_001407585.1:c.2017G>T
NM_001407587.1:c.2014G>T
NM_001407590.1:c.2014G>T
NM_001407591.1:c.2014G>T
NM_001407593.1:c.2017G>T
NM_001407594.1:c.2017G>T
NM_001407596.1:c.2017G>T
NM_001407597.1:c.2017G>T
NM_001407598.1:c.2017G>T
NM_001407602.1:c.2017G>T
NM_001407603.1:c.2017G>T
NM_001407605.1:c.2017G>T
NM_001407610.1:c.2014G>T
NM_001407611.1:c.2014G>T
NM_001407612.1:c.2014G>T
NM_001407613.1:c.2014G>T
NM_001407614.1:c.2014G>T
NM_001407615.1:c.2014G>T
NM_001407616.1:c.2017G>T
NM_001407617.1:c.2017G>T
NM_001407618.1:c.2017G>T
NM_001407619.1:c.2017G>T
NM_001407620.1:c.2017G>T
NM_001407621.1:c.2017G>T
NM_001407622.1:c.2017G>T
NM_001407623.1:c.2017G>T
NM_001407624.1:c.2017G>T
NM_001407625.1:c.2017G>T
NM_001407626.1:c.2017G>T
NM_001407627.1:c.2014G>T
NM_001407628.1:c.2014G>T
NM_001407629.1:c.2014G>T
NM_001407630.1:c.2014G>T
NM_001407631.1:c.2014G>T
NM_001407632.1:c.2014G>T
NM_001407633.1:c.2014G>T
NM_001407634.1:c.2014G>T
NM_001407635.1:c.2014G>T
NM_001407636.1:c.2014G>T
NM_001407637.1:c.2014G>T
NM_001407638.1:c.2014G>T
NM_001407639.1:c.2017G>T
NM_001407640.1:c.2017G>T
NM_001407641.1:c.2017G>T
NM_001407642.1:c.2017G>T
NM_001407644.1:c.2014G>T
NM_001407645.1:c.2014G>T
NM_001407646.1:c.2008G>T
NM_001407647.1:c.2008G>T
NM_001407648.1:c.1894G>T
NM_001407649.1:c.1891G>T
NM_001407652.1:c.2017G>T
NM_001407653.1:c.1939G>T
NM_001407654.1:c.1939G>T
NM_001407655.1:c.1939G>T
NM_001407656.1:c.1939G>T
NM_001407657.1:c.1939G>T
NM_001407658.1:c.1939G>T
NM_001407659.1:c.1936G>T
NM_001407660.1:c.1936G>T
NM_001407661.1:c.1936G>T
NM_001407662.1:c.1936G>T
NM_001407663.1:c.1939G>T
NM_001407664.1:c.1894G>T
NM_001407665.1:c.1894G>T
NM_001407666.1:c.1894G>T
NM_001407667.1:c.1894G>T
NM_001407668.1:c.1894G>T
NM_001407669.1:c.1894G>T
NM_001407670.1:c.1891G>T
NM_001407671.1:c.1891G>T
NM_001407672.1:c.1891G>T
NM_001407673.1:c.1891G>T
NM_001407674.1:c.1894G>T
NM_001407675.1:c.1894G>T
NM_001407676.1:c.1894G>T
NM_001407677.1:c.1894G>T
NM_001407678.1:c.1894G>T
NM_001407679.1:c.1894G>T
NM_001407680.1:c.1894G>T
NM_001407681.1:c.1894G>T
NM_001407682.1:c.1894G>T
NM_001407683.1:c.1894G>T
NM_001407684.1:c.2017G>T
NM_001407685.1:c.1891G>T
NM_001407686.1:c.1891G>T
NM_001407687.1:c.1891G>T
NM_001407688.1:c.1891G>T
NM_001407689.1:c.1891G>T
NM_001407690.1:c.1891G>T
NM_001407691.1:c.1891G>T
NM_001407692.1:c.1876G>T
NM_001407694.1:c.1876G>T
NM_001407695.1:c.1876G>T
NM_001407696.1:c.1876G>T
NM_001407697.1:c.1876G>T
NM_001407698.1:c.1876G>T
NM_001407724.1:c.1876G>T
NM_001407725.1:c.1876G>T
NM_001407726.1:c.1876G>T
NM_001407727.1:c.1876G>T
NM_001407728.1:c.1876G>T
NM_001407729.1:c.1876G>T
NM_001407730.1:c.1876G>T
NM_001407731.1:c.1876G>T
NM_001407732.1:c.1876G>T
NM_001407733.1:c.1876G>T
NM_001407734.1:c.1876G>T
NM_001407735.1:c.1876G>T
NM_001407736.1:c.1876G>T
NM_001407737.1:c.1876G>T
NM_001407738.1:c.1876G>T
NM_001407739.1:c.1876G>T
NM_001407740.1:c.1873G>T
NM_001407741.1:c.1873G>T
NM_001407742.1:c.1873G>T
NM_001407743.1:c.1873G>T
NM_001407744.1:c.1873G>T
NM_001407745.1:c.1873G>T
NM_001407746.1:c.1873G>T
NM_001407747.1:c.1873G>T
NM_001407748.1:c.1873G>T
NM_001407749.1:c.1873G>T
NM_001407750.1:c.1876G>T
NM_001407751.1:c.1876G>T
NM_001407752.1:c.1876G>T
NM_001407838.1:c.1873G>T
NM_001407839.1:c.1873G>T
NM_001407841.1:c.1873G>T
NM_001407842.1:c.1873G>T
NM_001407843.1:c.1873G>T
NM_001407844.1:c.1873G>T
NM_001407845.1:c.1873G>T
NM_001407846.1:c.1873G>T
NM_001407847.1:c.1873G>T
NM_001407848.1:c.1873G>T
NM_001407849.1:c.1873G>T
NM_001407850.1:c.1876G>T
NM_001407851.1:c.1876G>T
NM_001407852.1:c.1876G>T
NM_001407853.1:c.1804G>T
NM_001407854.1:c.2017G>T
NM_001407858.1:c.2017G>T
NM_001407859.1:c.2017G>T
NM_001407860.1:c.2014G>T
NM_001407861.1:c.2014G>T
NM_001407862.1:c.1816G>T
NM_001407863.1:c.1894G>T
NM_001407874.1:c.1813G>T
NM_001407875.1:c.1813G>T
NM_001407879.1:c.1807G>T
NM_001407881.1:c.1807G>T
NM_001407882.1:c.1807G>T
NM_001407884.1:c.1807G>T
NM_001407885.1:c.1807G>T
NM_001407886.1:c.1807G>T
NM_001407887.1:c.1807G>T
NM_001407889.1:c.1807G>T
NM_001407894.1:c.1804G>T
NM_001407895.1:c.1804G>T
NM_001407896.1:c.1804G>T
NM_001407897.1:c.1804G>T
NM_001407898.1:c.1804G>T
NM_001407899.1:c.1804G>T
NM_001407900.1:c.1807G>T
NM_001407902.1:c.1807G>T
NM_001407904.1:c.1807G>T
NM_001407906.1:c.1807G>T
NM_001407907.1:c.1807G>T
NM_001407908.1:c.1807G>T
NM_001407909.1:c.1807G>T
NM_001407910.1:c.1807G>T
NM_001407915.1:c.1804G>T
NM_001407916.1:c.1804G>T
NM_001407917.1:c.1804G>T
NM_001407918.1:c.1804G>T
NM_001407919.1:c.1894G>T
NM_001407920.1:c.1753G>T
NM_001407921.1:c.1753G>T
NM_001407922.1:c.1753G>T
NM_001407923.1:c.1753G>T
NM_001407924.1:c.1753G>T
NM_001407925.1:c.1753G>T
NM_001407926.1:c.1753G>T
NM_001407927.1:c.1753G>T
NM_001407928.1:c.1753G>T
NM_001407929.1:c.1753G>T
NM_001407930.1:c.1750G>T
NM_001407931.1:c.1750G>T
NM_001407932.1:c.1750G>T
NM_001407933.1:c.1753G>T
NM_001407934.1:c.1750G>T
NM_001407935.1:c.1753G>T
NM_001407936.1:c.1750G>T
NM_001407937.1:c.1894G>T
NM_001407938.1:c.1894G>T
NM_001407939.1:c.1894G>T
NM_001407940.1:c.1891G>T
NM_001407941.1:c.1891G>T
NM_001407942.1:c.1876G>T
NM_001407943.1:c.1873G>T
NM_001407944.1:c.1876G>T
NM_001407945.1:c.1876G>T
NM_001407946.1:c.1684G>T
NM_001407947.1:c.1684G>T
NM_001407948.1:c.1684G>T
NM_001407949.1:c.1684G>T
NM_001407950.1:c.1684G>T
NM_001407951.1:c.1684G>T
NM_001407952.1:c.1684G>T
NM_001407953.1:c.1684G>T
NM_001407954.1:c.1681G>T
NM_001407955.1:c.1681G>T
NM_001407956.1:c.1681G>T
NM_001407957.1:c.1684G>T
NM_001407958.1:c.1681G>T
NM_001407959.1:c.1636G>T
NM_001407960.1:c.1636G>T
NM_001407962.1:c.1633G>T
NM_001407963.1:c.1636G>T
NM_001407964.1:c.1873G>T
NM_001407965.1:c.1513G>T
NM_001407966.1:c.1129G>T
NM_001407967.1:c.1129G>T
NM_001407968.1:c.787+1230G>T
NM_001407969.1:c.787+1230G>T
NM_001407970.1:c.787+1230G>T
NM_001407971.1:c.787+1230G>T
NM_001407972.1:c.784+1230G>T
NM_001407973.1:c.787+1230G>T
NM_001407974.1:c.787+1230G>T
NM_001407975.1:c.787+1230G>T
NM_001407976.1:c.787+1230G>T
NM_001407977.1:c.787+1230G>T
NM_001407978.1:c.787+1230G>T
NM_001407979.1:c.787+1230G>T
NM_001407980.1:c.787+1230G>T
NM_001407981.1:c.787+1230G>T
NM_001407982.1:c.787+1230G>T
NM_001407983.1:c.787+1230G>T
NM_001407984.1:c.784+1230G>T
NM_001407985.1:c.784+1230G>T
NM_001407986.1:c.784+1230G>T
NM_001407990.1:c.787+1230G>T
NM_001407991.1:c.784+1230G>T
NM_001407992.1:c.784+1230G>T
NM_001407993.1:c.787+1230G>T
NM_001408392.1:c.784+1230G>T
NM_001408396.1:c.784+1230G>T
NM_001408397.1:c.784+1230G>T
NM_001408398.1:c.784+1230G>T
NM_001408399.1:c.784+1230G>T
NM_001408400.1:c.784+1230G>T
NM_001408401.1:c.784+1230G>T
NM_001408402.1:c.784+1230G>T
NM_001408403.1:c.787+1230G>T
NM_001408404.1:c.787+1230G>T
NM_001408406.1:c.790+1227G>T
NM_001408407.1:c.784+1230G>T
NM_001408408.1:c.778+1230G>T
NM_001408409.1:c.709+1230G>T
NM_001408410.1:c.646+1230G>T
NM_001408411.1:c.709+1230G>T
NM_001408412.1:c.709+1230G>T
NM_001408413.1:c.706+1230G>T
NM_001408414.1:c.709+1230G>T
NM_001408415.1:c.709+1230G>T
NM_001408416.1:c.706+1230G>T
NM_001408418.1:c.670+2332G>T
NM_001408419.1:c.670+2332G>T
NM_001408420.1:c.670+2332G>T
NM_001408421.1:c.667+2332G>T
NM_001408422.1:c.670+2332G>T
NM_001408423.1:c.670+2332G>T
NM_001408424.1:c.667+2332G>T
NM_001408425.1:c.664+1230G>T
NM_001408426.1:c.664+1230G>T
NM_001408427.1:c.664+1230G>T
NM_001408428.1:c.664+1230G>T
NM_001408429.1:c.664+1230G>T
NM_001408430.1:c.664+1230G>T
NM_001408431.1:c.667+2332G>T
NM_001408432.1:c.661+1230G>T
NM_001408433.1:c.661+1230G>T
NM_001408434.1:c.661+1230G>T
NM_001408435.1:c.661+1230G>T
NM_001408436.1:c.664+1230G>T
NM_001408437.1:c.664+1230G>T
NM_001408438.1:c.664+1230G>T
NM_001408439.1:c.664+1230G>T
NM_001408440.1:c.664+1230G>T
NM_001408441.1:c.664+1230G>T
NM_001408442.1:c.664+1230G>T
NM_001408443.1:c.664+1230G>T
NM_001408444.1:c.664+1230G>T
NM_001408445.1:c.661+1230G>T
NM_001408446.1:c.661+1230G>T
NM_001408447.1:c.661+1230G>T
NM_001408448.1:c.661+1230G>T
NM_001408450.1:c.661+1230G>T
NM_001408451.1:c.652+1230G>T
NM_001408452.1:c.646+1230G>T
NM_001408453.1:c.646+1230G>T
NM_001408454.1:c.646+1230G>T
NM_001408455.1:c.646+1230G>T
NM_001408456.1:c.646+1230G>T
NM_001408457.1:c.646+1230G>T
NM_001408458.1:c.646+1230G>T
NM_001408459.1:c.646+1230G>T
NM_001408460.1:c.646+1230G>T
NM_001408461.1:c.646+1230G>T
NM_001408462.1:c.643+1230G>T
NM_001408463.1:c.643+1230G>T
NM_001408464.1:c.643+1230G>T
NM_001408465.1:c.643+1230G>T
NM_001408466.1:c.646+1230G>T
NM_001408467.1:c.646+1230G>T
NM_001408468.1:c.643+1230G>T
NM_001408469.1:c.646+1230G>T
NM_001408470.1:c.643+1230G>T
NM_001408472.1:c.787+1230G>T
NM_001408473.1:c.784+1230G>T
NM_001408474.1:c.586+1230G>T
NM_001408475.1:c.583+1230G>T
NM_001408476.1:c.586+1230G>T
NM_001408478.1:c.577+1230G>T
NM_001408479.1:c.577+1230G>T
NM_001408480.1:c.577+1230G>T
NM_001408481.1:c.577+1230G>T
NM_001408482.1:c.577+1230G>T
NM_001408483.1:c.577+1230G>T
NM_001408484.1:c.577+1230G>T
NM_001408485.1:c.577+1230G>T
NM_001408489.1:c.577+1230G>T
NM_001408490.1:c.574+1230G>T
NM_001408491.1:c.574+1230G>T
NM_001408492.1:c.577+1230G>T
NM_001408493.1:c.574+1230G>T
NM_001408494.1:c.548-2482G>T
NM_001408495.1:c.545-2482G>T
NM_001408496.1:c.523+1230G>T
NM_001408497.1:c.523+1230G>T
NM_001408498.1:c.523+1230G>T
NM_001408499.1:c.523+1230G>T
NM_001408500.1:c.523+1230G>T
NM_001408501.1:c.523+1230G>T
NM_001408502.1:c.454+1230G>T
NM_001408503.1:c.520+1230G>T
NM_001408504.1:c.520+1230G>T
NM_001408505.1:c.520+1230G>T
NM_001408506.1:c.460+2332G>T
NM_001408507.1:c.460+2332G>T
NM_001408508.1:c.451+1230G>T
NM_001408509.1:c.451+1230G>T
NM_001408510.1:c.406+1230G>T
NM_001408511.1:c.404-2482G>T
NM_001408512.1:c.283+1230G>T
NM_001408513.1:c.577+1230G>T
NM_001408514.1:c.577+1230G>T
NM_007294.4:c.2017G>TMANE SELECT
NM_007297.4:c.1876G>T
NM_007298.4:c.787+1230G>T
NM_007299.4:c.787+1230G>T
NM_007300.4:c.2017G>T
NP_001394500.1:p.Glu602Ter
NP_001394510.1:p.Glu673Ter
NP_001394511.1:p.Glu673Ter
NP_001394512.1:p.Glu673Ter
NP_001394514.1:p.Glu673Ter
NP_001394516.1:p.Glu672Ter
NP_001394519.1:p.Glu672Ter
NP_001394520.1:p.Glu672Ter
NP_001394522.1:p.Glu673Ter
NP_001394523.1:p.Glu673Ter
NP_001394525.1:p.Glu673Ter
NP_001394526.1:p.Glu673Ter
NP_001394527.1:p.Glu673Ter
NP_001394531.1:p.Glu673Ter
NP_001394532.1:p.Glu673Ter
NP_001394534.1:p.Glu673Ter
NP_001394539.1:p.Glu672Ter
NP_001394540.1:p.Glu672Ter
NP_001394541.1:p.Glu672Ter
NP_001394542.1:p.Glu672Ter
NP_001394543.1:p.Glu672Ter
NP_001394544.1:p.Glu672Ter
NP_001394545.1:p.Glu673Ter
NP_001394546.1:p.Glu673Ter
NP_001394547.1:p.Glu673Ter
NP_001394548.1:p.Glu673Ter
NP_001394549.1:p.Glu673Ter
NP_001394550.1:p.Glu673Ter
NP_001394551.1:p.Glu673Ter
NP_001394552.1:p.Glu673Ter
NP_001394553.1:p.Glu673Ter
NP_001394554.1:p.Glu673Ter
NP_001394555.1:p.Glu673Ter
NP_001394556.1:p.Glu672Ter
NP_001394557.1:p.Glu672Ter
NP_001394558.1:p.Glu672Ter
NP_001394559.1:p.Glu672Ter
NP_001394560.1:p.Glu672Ter
NP_001394561.1:p.Glu672Ter
NP_001394562.1:p.Glu672Ter
NP_001394563.1:p.Glu672Ter
NP_001394564.1:p.Glu672Ter
NP_001394565.1:p.Glu672Ter
NP_001394566.1:p.Glu672Ter
NP_001394567.1:p.Glu672Ter
NP_001394568.1:p.Glu673Ter
NP_001394569.1:p.Glu673Ter
NP_001394570.1:p.Glu673Ter
NP_001394571.1:p.Glu673Ter
NP_001394573.1:p.Glu672Ter
NP_001394574.1:p.Glu672Ter
NP_001394575.1:p.Glu670Ter
NP_001394576.1:p.Glu670Ter
NP_001394577.1:p.Glu632Ter
NP_001394578.1:p.Glu631Ter
NP_001394581.1:p.Glu673Ter
NP_001394582.1:p.Glu647Ter
NP_001394583.1:p.Glu647Ter
NP_001394584.1:p.Glu647Ter
NP_001394585.1:p.Glu647Ter
NP_001394586.1:p.Glu647Ter
NP_001394587.1:p.Glu647Ter
NP_001394588.1:p.Glu646Ter
NP_001394589.1:p.Glu646Ter
NP_001394590.1:p.Glu646Ter
NP_001394591.1:p.Glu646Ter
NP_001394592.1:p.Glu647Ter
NP_001394593.1:p.Glu632Ter
NP_001394594.1:p.Glu632Ter
NP_001394595.1:p.Glu632Ter
NP_001394596.1:p.Glu632Ter
NP_001394597.1:p.Glu632Ter
NP_001394598.1:p.Glu632Ter
NP_001394599.1:p.Glu631Ter
NP_001394600.1:p.Glu631Ter
NP_001394601.1:p.Glu631Ter
NP_001394602.1:p.Glu631Ter
NP_001394603.1:p.Glu632Ter
NP_001394604.1:p.Glu632Ter
NP_001394605.1:p.Glu632Ter
NP_001394606.1:p.Glu632Ter
NP_001394607.1:p.Glu632Ter
NP_001394608.1:p.Glu632Ter
NP_001394609.1:p.Glu632Ter
NP_001394610.1:p.Glu632Ter
NP_001394611.1:p.Glu632Ter
NP_001394612.1:p.Glu632Ter
NP_001394613.1:p.Glu673Ter
NP_001394614.1:p.Glu631Ter
NP_001394615.1:p.Glu631Ter
NP_001394616.1:p.Glu631Ter
NP_001394617.1:p.Glu631Ter
NP_001394618.1:p.Glu631Ter
NP_001394619.1:p.Glu631Ter
NP_001394620.1:p.Glu631Ter
NP_001394621.1:p.Glu626Ter
NP_001394623.1:p.Glu626Ter
NP_001394624.1:p.Glu626Ter
NP_001394625.1:p.Glu626Ter
NP_001394626.1:p.Glu626Ter
NP_001394627.1:p.Glu626Ter
NP_001394653.1:p.Glu626Ter
NP_001394654.1:p.Glu626Ter
NP_001394655.1:p.Glu626Ter
NP_001394656.1:p.Glu626Ter
NP_001394657.1:p.Glu626Ter
NP_001394658.1:p.Glu626Ter
NP_001394659.1:p.Glu626Ter
NP_001394660.1:p.Glu626Ter
NP_001394661.1:p.Glu626Ter
NP_001394662.1:p.Glu626Ter
NP_001394663.1:p.Glu626Ter
NP_001394664.1:p.Glu626Ter
NP_001394665.1:p.Glu626Ter
NP_001394666.1:p.Glu626Ter
NP_001394667.1:p.Glu626Ter
NP_001394668.1:p.Glu626Ter
NP_001394669.1:p.Glu625Ter
NP_001394670.1:p.Glu625Ter
NP_001394671.1:p.Glu625Ter
NP_001394672.1:p.Glu625Ter
NP_001394673.1:p.Glu625Ter
NP_001394674.1:p.Glu625Ter
NP_001394675.1:p.Glu625Ter
NP_001394676.1:p.Glu625Ter
NP_001394677.1:p.Glu625Ter
NP_001394678.1:p.Glu625Ter
NP_001394679.1:p.Glu626Ter
NP_001394680.1:p.Glu626Ter
NP_001394681.1:p.Glu626Ter
NP_001394767.1:p.Glu625Ter
NP_001394768.1:p.Glu625Ter
NP_001394770.1:p.Glu625Ter
NP_001394771.1:p.Glu625Ter
NP_001394772.1:p.Glu625Ter
NP_001394773.1:p.Glu625Ter
NP_001394774.1:p.Glu625Ter
NP_001394775.1:p.Glu625Ter
NP_001394776.1:p.Glu625Ter
NP_001394777.1:p.Glu625Ter
NP_001394778.1:p.Glu625Ter
NP_001394779.1:p.Glu626Ter
NP_001394780.1:p.Glu626Ter
NP_001394781.1:p.Glu626Ter
NP_001394782.1:p.Glu602Ter
NP_001394783.1:p.Glu673Ter
NP_001394787.1:p.Glu673Ter
NP_001394788.1:p.Glu673Ter
NP_001394789.1:p.Glu672Ter
NP_001394790.1:p.Glu672Ter
NP_001394791.1:p.Glu606Ter
NP_001394792.1:p.Glu632Ter
NP_001394803.1:p.Glu605Ter
NP_001394804.1:p.Glu605Ter
NP_001394808.1:p.Glu603Ter
NP_001394810.1:p.Glu603Ter
NP_001394811.1:p.Glu603Ter
NP_001394813.1:p.Glu603Ter
NP_001394814.1:p.Glu603Ter
NP_001394815.1:p.Glu603Ter
NP_001394816.1:p.Glu603Ter
NP_001394818.1:p.Glu603Ter
NP_001394823.1:p.Glu602Ter
NP_001394824.1:p.Glu602Ter
NP_001394825.1:p.Glu602Ter
NP_001394826.1:p.Glu602Ter
NP_001394827.1:p.Glu602Ter
NP_001394828.1:p.Glu602Ter
NP_001394829.1:p.Glu603Ter
NP_001394831.1:p.Glu603Ter
NP_001394833.1:p.Glu603Ter
NP_001394835.1:p.Glu603Ter
NP_001394836.1:p.Glu603Ter
NP_001394837.1:p.Glu603Ter
NP_001394838.1:p.Glu603Ter
NP_001394839.1:p.Glu603Ter
NP_001394844.1:p.Glu602Ter
NP_001394845.1:p.Glu602Ter
NP_001394846.1:p.Glu602Ter
NP_001394847.1:p.Glu602Ter
NP_001394848.1:p.Glu632Ter
NP_001394849.1:p.Glu585Ter
NP_001394850.1:p.Glu585Ter
NP_001394851.1:p.Glu585Ter
NP_001394852.1:p.Glu585Ter
NP_001394853.1:p.Glu585Ter
NP_001394854.1:p.Glu585Ter
NP_001394855.1:p.Glu585Ter
NP_001394856.1:p.Glu585Ter
NP_001394857.1:p.Glu585Ter
NP_001394858.1:p.Glu585Ter
NP_001394859.1:p.Glu584Ter
NP_001394860.1:p.Glu584Ter
NP_001394861.1:p.Glu584Ter
NP_001394862.1:p.Glu585Ter
NP_001394863.1:p.Glu584Ter
NP_001394864.1:p.Glu585Ter
NP_001394865.1:p.Glu584Ter
NP_001394866.1:p.Glu632Ter
NP_001394867.1:p.Glu632Ter
NP_001394868.1:p.Glu632Ter
NP_001394869.1:p.Glu631Ter
NP_001394870.1:p.Glu631Ter
NP_001394871.1:p.Glu626Ter
NP_001394872.1:p.Glu625Ter
NP_001394873.1:p.Glu626Ter
NP_001394874.1:p.Glu626Ter
NP_001394875.1:p.Glu562Ter
NP_001394876.1:p.Glu562Ter
NP_001394877.1:p.Glu562Ter
NP_001394878.1:p.Glu562Ter
NP_001394879.1:p.Glu562Ter
NP_001394880.1:p.Glu562Ter
NP_001394881.1:p.Glu562Ter
NP_001394882.1:p.Glu562Ter
NP_001394883.1:p.Glu561Ter
NP_001394884.1:p.Glu561Ter
NP_001394885.1:p.Glu561Ter
NP_001394886.1:p.Glu562Ter
NP_001394887.1:p.Glu561Ter
NP_001394888.1:p.Glu546Ter
NP_001394889.1:p.Glu546Ter
NP_001394891.1:p.Glu545Ter
NP_001394892.1:p.Glu546Ter
NP_001394893.1:p.Glu625Ter
NP_001394894.1:p.Glu505Ter
NP_001394895.1:p.Glu377Ter
NP_001394896.1:p.Glu377Ter
NP_009225.1:p.Glu673Ter
NP_009225.1:p.Glu673Ter
NP_009228.2:p.Glu626Ter
NP_009231.2:p.Glu673Ter
LRG_292t1:c.2017G>T
LRG_292:g.124470G>T
LRG_292p1:p.Glu673Ter
NC_000017.10:g.41245531C>A
NM_007294.3:c.2017G>T
NM_007297.3:c.1876G>T
NR_027676.1:n.2153G>T
U14680.1:n.2136G>T
p.E673*

Protein change:

E377*

Links:

dbSNP: rs80357391

NCBI 1000 Genomes Browser:

rs80357391

Molecular consequence:

NM_001407968.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1227G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2482G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2482G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2332G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2482G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1230G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.2008G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.2008G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.1936G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.1936G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.1936G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.1936G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.1939G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.2014G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.1816G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.1813G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.1813G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.1807G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.1804G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.1753G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.1750G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.1894G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.1891G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.1681G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.1681G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.1681G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.1684G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.1681G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.1636G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.1636G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.1633G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.1636G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.1873G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.1129G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.1129G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.1876G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.2017G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210118	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 11, 2014)	germline	clinical testing	Citation Link,
SCV001249210	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210118

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 11, 2014)

germline

clinical testing

Citation Link,

SCV001249210

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Aug 1, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000210118.10

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

Description

This pathogenic variant is denoted BRCA1 c.2017G>T at the cDNA level and p.Glu673Ter (E673X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in one woman with breast cancer and in another with a personal and/or family history suggestive of hereditary breast and ovarian cancer syndrome (Olopade 2003, Beristain 2010) and is considered pathogenic.

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

From CeGaT Center for Human Genetics Tuebingen, SCV001249210.21

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

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

Last Updated: May 26, 2024

ClinVar

Relating variation to medicine