NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: May 16, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000662632.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)]

NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)

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.1723G>A (p.Glu575Lys)

Other names:

p.E575K:GAA>AAA

HGVS:

NC_000017.11:g.43093808C>T
NG_005905.2:g.124176G>A
NM_001407571.1:c.1510G>A
NM_001407581.1:c.1723G>A
NM_001407582.1:c.1723G>A
NM_001407583.1:c.1723G>A
NM_001407585.1:c.1723G>A
NM_001407587.1:c.1720G>A
NM_001407590.1:c.1720G>A
NM_001407591.1:c.1720G>A
NM_001407593.1:c.1723G>A
NM_001407594.1:c.1723G>A
NM_001407596.1:c.1723G>A
NM_001407597.1:c.1723G>A
NM_001407598.1:c.1723G>A
NM_001407602.1:c.1723G>A
NM_001407603.1:c.1723G>A
NM_001407605.1:c.1723G>A
NM_001407610.1:c.1720G>A
NM_001407611.1:c.1720G>A
NM_001407612.1:c.1720G>A
NM_001407613.1:c.1720G>A
NM_001407614.1:c.1720G>A
NM_001407615.1:c.1720G>A
NM_001407616.1:c.1723G>A
NM_001407617.1:c.1723G>A
NM_001407618.1:c.1723G>A
NM_001407619.1:c.1723G>A
NM_001407620.1:c.1723G>A
NM_001407621.1:c.1723G>A
NM_001407622.1:c.1723G>A
NM_001407623.1:c.1723G>A
NM_001407624.1:c.1723G>A
NM_001407625.1:c.1723G>A
NM_001407626.1:c.1723G>A
NM_001407627.1:c.1720G>A
NM_001407628.1:c.1720G>A
NM_001407629.1:c.1720G>A
NM_001407630.1:c.1720G>A
NM_001407631.1:c.1720G>A
NM_001407632.1:c.1720G>A
NM_001407633.1:c.1720G>A
NM_001407634.1:c.1720G>A
NM_001407635.1:c.1720G>A
NM_001407636.1:c.1720G>A
NM_001407637.1:c.1720G>A
NM_001407638.1:c.1720G>A
NM_001407639.1:c.1723G>A
NM_001407640.1:c.1723G>A
NM_001407641.1:c.1723G>A
NM_001407642.1:c.1723G>A
NM_001407644.1:c.1720G>A
NM_001407645.1:c.1720G>A
NM_001407646.1:c.1714G>A
NM_001407647.1:c.1714G>A
NM_001407648.1:c.1600G>A
NM_001407649.1:c.1597G>A
NM_001407652.1:c.1723G>A
NM_001407653.1:c.1645G>A
NM_001407654.1:c.1645G>A
NM_001407655.1:c.1645G>A
NM_001407656.1:c.1645G>A
NM_001407657.1:c.1645G>A
NM_001407658.1:c.1645G>A
NM_001407659.1:c.1642G>A
NM_001407660.1:c.1642G>A
NM_001407661.1:c.1642G>A
NM_001407662.1:c.1642G>A
NM_001407663.1:c.1645G>A
NM_001407664.1:c.1600G>A
NM_001407665.1:c.1600G>A
NM_001407666.1:c.1600G>A
NM_001407667.1:c.1600G>A
NM_001407668.1:c.1600G>A
NM_001407669.1:c.1600G>A
NM_001407670.1:c.1597G>A
NM_001407671.1:c.1597G>A
NM_001407672.1:c.1597G>A
NM_001407673.1:c.1597G>A
NM_001407674.1:c.1600G>A
NM_001407675.1:c.1600G>A
NM_001407676.1:c.1600G>A
NM_001407677.1:c.1600G>A
NM_001407678.1:c.1600G>A
NM_001407679.1:c.1600G>A
NM_001407680.1:c.1600G>A
NM_001407681.1:c.1600G>A
NM_001407682.1:c.1600G>A
NM_001407683.1:c.1600G>A
NM_001407684.1:c.1723G>A
NM_001407685.1:c.1597G>A
NM_001407686.1:c.1597G>A
NM_001407687.1:c.1597G>A
NM_001407688.1:c.1597G>A
NM_001407689.1:c.1597G>A
NM_001407690.1:c.1597G>A
NM_001407691.1:c.1597G>A
NM_001407692.1:c.1582G>A
NM_001407694.1:c.1582G>A
NM_001407695.1:c.1582G>A
NM_001407696.1:c.1582G>A
NM_001407697.1:c.1582G>A
NM_001407698.1:c.1582G>A
NM_001407724.1:c.1582G>A
NM_001407725.1:c.1582G>A
NM_001407726.1:c.1582G>A
NM_001407727.1:c.1582G>A
NM_001407728.1:c.1582G>A
NM_001407729.1:c.1582G>A
NM_001407730.1:c.1582G>A
NM_001407731.1:c.1582G>A
NM_001407732.1:c.1582G>A
NM_001407733.1:c.1582G>A
NM_001407734.1:c.1582G>A
NM_001407735.1:c.1582G>A
NM_001407736.1:c.1582G>A
NM_001407737.1:c.1582G>A
NM_001407738.1:c.1582G>A
NM_001407739.1:c.1582G>A
NM_001407740.1:c.1579G>A
NM_001407741.1:c.1579G>A
NM_001407742.1:c.1579G>A
NM_001407743.1:c.1579G>A
NM_001407744.1:c.1579G>A
NM_001407745.1:c.1579G>A
NM_001407746.1:c.1579G>A
NM_001407747.1:c.1579G>A
NM_001407748.1:c.1579G>A
NM_001407749.1:c.1579G>A
NM_001407750.1:c.1582G>A
NM_001407751.1:c.1582G>A
NM_001407752.1:c.1582G>A
NM_001407838.1:c.1579G>A
NM_001407839.1:c.1579G>A
NM_001407841.1:c.1579G>A
NM_001407842.1:c.1579G>A
NM_001407843.1:c.1579G>A
NM_001407844.1:c.1579G>A
NM_001407845.1:c.1579G>A
NM_001407846.1:c.1579G>A
NM_001407847.1:c.1579G>A
NM_001407848.1:c.1579G>A
NM_001407849.1:c.1579G>A
NM_001407850.1:c.1582G>A
NM_001407851.1:c.1582G>A
NM_001407852.1:c.1582G>A
NM_001407853.1:c.1510G>A
NM_001407854.1:c.1723G>A
NM_001407858.1:c.1723G>A
NM_001407859.1:c.1723G>A
NM_001407860.1:c.1720G>A
NM_001407861.1:c.1720G>A
NM_001407862.1:c.1522G>A
NM_001407863.1:c.1600G>A
NM_001407874.1:c.1519G>A
NM_001407875.1:c.1519G>A
NM_001407879.1:c.1513G>A
NM_001407881.1:c.1513G>A
NM_001407882.1:c.1513G>A
NM_001407884.1:c.1513G>A
NM_001407885.1:c.1513G>A
NM_001407886.1:c.1513G>A
NM_001407887.1:c.1513G>A
NM_001407889.1:c.1513G>A
NM_001407894.1:c.1510G>A
NM_001407895.1:c.1510G>A
NM_001407896.1:c.1510G>A
NM_001407897.1:c.1510G>A
NM_001407898.1:c.1510G>A
NM_001407899.1:c.1510G>A
NM_001407900.1:c.1513G>A
NM_001407902.1:c.1513G>A
NM_001407904.1:c.1513G>A
NM_001407906.1:c.1513G>A
NM_001407907.1:c.1513G>A
NM_001407908.1:c.1513G>A
NM_001407909.1:c.1513G>A
NM_001407910.1:c.1513G>A
NM_001407915.1:c.1510G>A
NM_001407916.1:c.1510G>A
NM_001407917.1:c.1510G>A
NM_001407918.1:c.1510G>A
NM_001407919.1:c.1600G>A
NM_001407920.1:c.1459G>A
NM_001407921.1:c.1459G>A
NM_001407922.1:c.1459G>A
NM_001407923.1:c.1459G>A
NM_001407924.1:c.1459G>A
NM_001407925.1:c.1459G>A
NM_001407926.1:c.1459G>A
NM_001407927.1:c.1459G>A
NM_001407928.1:c.1459G>A
NM_001407929.1:c.1459G>A
NM_001407930.1:c.1456G>A
NM_001407931.1:c.1456G>A
NM_001407932.1:c.1456G>A
NM_001407933.1:c.1459G>A
NM_001407934.1:c.1456G>A
NM_001407935.1:c.1459G>A
NM_001407936.1:c.1456G>A
NM_001407937.1:c.1600G>A
NM_001407938.1:c.1600G>A
NM_001407939.1:c.1600G>A
NM_001407940.1:c.1597G>A
NM_001407941.1:c.1597G>A
NM_001407942.1:c.1582G>A
NM_001407943.1:c.1579G>A
NM_001407944.1:c.1582G>A
NM_001407945.1:c.1582G>A
NM_001407946.1:c.1390G>A
NM_001407947.1:c.1390G>A
NM_001407948.1:c.1390G>A
NM_001407949.1:c.1390G>A
NM_001407950.1:c.1390G>A
NM_001407951.1:c.1390G>A
NM_001407952.1:c.1390G>A
NM_001407953.1:c.1390G>A
NM_001407954.1:c.1387G>A
NM_001407955.1:c.1387G>A
NM_001407956.1:c.1387G>A
NM_001407957.1:c.1390G>A
NM_001407958.1:c.1387G>A
NM_001407959.1:c.1342G>A
NM_001407960.1:c.1342G>A
NM_001407962.1:c.1339G>A
NM_001407963.1:c.1342G>A
NM_001407964.1:c.1579G>A
NM_001407965.1:c.1219G>A
NM_001407966.1:c.835G>A
NM_001407967.1:c.835G>A
NM_001407968.1:c.787+936G>A
NM_001407969.1:c.787+936G>A
NM_001407970.1:c.787+936G>A
NM_001407971.1:c.787+936G>A
NM_001407972.1:c.784+936G>A
NM_001407973.1:c.787+936G>A
NM_001407974.1:c.787+936G>A
NM_001407975.1:c.787+936G>A
NM_001407976.1:c.787+936G>A
NM_001407977.1:c.787+936G>A
NM_001407978.1:c.787+936G>A
NM_001407979.1:c.787+936G>A
NM_001407980.1:c.787+936G>A
NM_001407981.1:c.787+936G>A
NM_001407982.1:c.787+936G>A
NM_001407983.1:c.787+936G>A
NM_001407984.1:c.784+936G>A
NM_001407985.1:c.784+936G>A
NM_001407986.1:c.784+936G>A
NM_001407990.1:c.787+936G>A
NM_001407991.1:c.784+936G>A
NM_001407992.1:c.784+936G>A
NM_001407993.1:c.787+936G>A
NM_001408392.1:c.784+936G>A
NM_001408396.1:c.784+936G>A
NM_001408397.1:c.784+936G>A
NM_001408398.1:c.784+936G>A
NM_001408399.1:c.784+936G>A
NM_001408400.1:c.784+936G>A
NM_001408401.1:c.784+936G>A
NM_001408402.1:c.784+936G>A
NM_001408403.1:c.787+936G>A
NM_001408404.1:c.787+936G>A
NM_001408406.1:c.790+933G>A
NM_001408407.1:c.784+936G>A
NM_001408408.1:c.778+936G>A
NM_001408409.1:c.709+936G>A
NM_001408410.1:c.646+936G>A
NM_001408411.1:c.709+936G>A
NM_001408412.1:c.709+936G>A
NM_001408413.1:c.706+936G>A
NM_001408414.1:c.709+936G>A
NM_001408415.1:c.709+936G>A
NM_001408416.1:c.706+936G>A
NM_001408418.1:c.670+2038G>A
NM_001408419.1:c.670+2038G>A
NM_001408420.1:c.670+2038G>A
NM_001408421.1:c.667+2038G>A
NM_001408422.1:c.670+2038G>A
NM_001408423.1:c.670+2038G>A
NM_001408424.1:c.667+2038G>A
NM_001408425.1:c.664+936G>A
NM_001408426.1:c.664+936G>A
NM_001408427.1:c.664+936G>A
NM_001408428.1:c.664+936G>A
NM_001408429.1:c.664+936G>A
NM_001408430.1:c.664+936G>A
NM_001408431.1:c.667+2038G>A
NM_001408432.1:c.661+936G>A
NM_001408433.1:c.661+936G>A
NM_001408434.1:c.661+936G>A
NM_001408435.1:c.661+936G>A
NM_001408436.1:c.664+936G>A
NM_001408437.1:c.664+936G>A
NM_001408438.1:c.664+936G>A
NM_001408439.1:c.664+936G>A
NM_001408440.1:c.664+936G>A
NM_001408441.1:c.664+936G>A
NM_001408442.1:c.664+936G>A
NM_001408443.1:c.664+936G>A
NM_001408444.1:c.664+936G>A
NM_001408445.1:c.661+936G>A
NM_001408446.1:c.661+936G>A
NM_001408447.1:c.661+936G>A
NM_001408448.1:c.661+936G>A
NM_001408450.1:c.661+936G>A
NM_001408451.1:c.652+936G>A
NM_001408452.1:c.646+936G>A
NM_001408453.1:c.646+936G>A
NM_001408454.1:c.646+936G>A
NM_001408455.1:c.646+936G>A
NM_001408456.1:c.646+936G>A
NM_001408457.1:c.646+936G>A
NM_001408458.1:c.646+936G>A
NM_001408459.1:c.646+936G>A
NM_001408460.1:c.646+936G>A
NM_001408461.1:c.646+936G>A
NM_001408462.1:c.643+936G>A
NM_001408463.1:c.643+936G>A
NM_001408464.1:c.643+936G>A
NM_001408465.1:c.643+936G>A
NM_001408466.1:c.646+936G>A
NM_001408467.1:c.646+936G>A
NM_001408468.1:c.643+936G>A
NM_001408469.1:c.646+936G>A
NM_001408470.1:c.643+936G>A
NM_001408472.1:c.787+936G>A
NM_001408473.1:c.784+936G>A
NM_001408474.1:c.586+936G>A
NM_001408475.1:c.583+936G>A
NM_001408476.1:c.586+936G>A
NM_001408478.1:c.577+936G>A
NM_001408479.1:c.577+936G>A
NM_001408480.1:c.577+936G>A
NM_001408481.1:c.577+936G>A
NM_001408482.1:c.577+936G>A
NM_001408483.1:c.577+936G>A
NM_001408484.1:c.577+936G>A
NM_001408485.1:c.577+936G>A
NM_001408489.1:c.577+936G>A
NM_001408490.1:c.574+936G>A
NM_001408491.1:c.574+936G>A
NM_001408492.1:c.577+936G>A
NM_001408493.1:c.574+936G>A
NM_001408494.1:c.548-2776G>A
NM_001408495.1:c.545-2776G>A
NM_001408496.1:c.523+936G>A
NM_001408497.1:c.523+936G>A
NM_001408498.1:c.523+936G>A
NM_001408499.1:c.523+936G>A
NM_001408500.1:c.523+936G>A
NM_001408501.1:c.523+936G>A
NM_001408502.1:c.454+936G>A
NM_001408503.1:c.520+936G>A
NM_001408504.1:c.520+936G>A
NM_001408505.1:c.520+936G>A
NM_001408506.1:c.460+2038G>A
NM_001408507.1:c.460+2038G>A
NM_001408508.1:c.451+936G>A
NM_001408509.1:c.451+936G>A
NM_001408510.1:c.406+936G>A
NM_001408511.1:c.404-2776G>A
NM_001408512.1:c.283+936G>A
NM_001408513.1:c.577+936G>A
NM_001408514.1:c.577+936G>A
NM_007294.4:c.1723G>AMANE SELECT
NM_007297.4:c.1582G>A
NM_007298.4:c.787+936G>A
NM_007299.4:c.787+936G>A
NM_007300.4:c.1723G>A
NP_001394500.1:p.Glu504Lys
NP_001394510.1:p.Glu575Lys
NP_001394511.1:p.Glu575Lys
NP_001394512.1:p.Glu575Lys
NP_001394514.1:p.Glu575Lys
NP_001394516.1:p.Glu574Lys
NP_001394519.1:p.Glu574Lys
NP_001394520.1:p.Glu574Lys
NP_001394522.1:p.Glu575Lys
NP_001394523.1:p.Glu575Lys
NP_001394525.1:p.Glu575Lys
NP_001394526.1:p.Glu575Lys
NP_001394527.1:p.Glu575Lys
NP_001394531.1:p.Glu575Lys
NP_001394532.1:p.Glu575Lys
NP_001394534.1:p.Glu575Lys
NP_001394539.1:p.Glu574Lys
NP_001394540.1:p.Glu574Lys
NP_001394541.1:p.Glu574Lys
NP_001394542.1:p.Glu574Lys
NP_001394543.1:p.Glu574Lys
NP_001394544.1:p.Glu574Lys
NP_001394545.1:p.Glu575Lys
NP_001394546.1:p.Glu575Lys
NP_001394547.1:p.Glu575Lys
NP_001394548.1:p.Glu575Lys
NP_001394549.1:p.Glu575Lys
NP_001394550.1:p.Glu575Lys
NP_001394551.1:p.Glu575Lys
NP_001394552.1:p.Glu575Lys
NP_001394553.1:p.Glu575Lys
NP_001394554.1:p.Glu575Lys
NP_001394555.1:p.Glu575Lys
NP_001394556.1:p.Glu574Lys
NP_001394557.1:p.Glu574Lys
NP_001394558.1:p.Glu574Lys
NP_001394559.1:p.Glu574Lys
NP_001394560.1:p.Glu574Lys
NP_001394561.1:p.Glu574Lys
NP_001394562.1:p.Glu574Lys
NP_001394563.1:p.Glu574Lys
NP_001394564.1:p.Glu574Lys
NP_001394565.1:p.Glu574Lys
NP_001394566.1:p.Glu574Lys
NP_001394567.1:p.Glu574Lys
NP_001394568.1:p.Glu575Lys
NP_001394569.1:p.Glu575Lys
NP_001394570.1:p.Glu575Lys
NP_001394571.1:p.Glu575Lys
NP_001394573.1:p.Glu574Lys
NP_001394574.1:p.Glu574Lys
NP_001394575.1:p.Glu572Lys
NP_001394576.1:p.Glu572Lys
NP_001394577.1:p.Glu534Lys
NP_001394578.1:p.Glu533Lys
NP_001394581.1:p.Glu575Lys
NP_001394582.1:p.Glu549Lys
NP_001394583.1:p.Glu549Lys
NP_001394584.1:p.Glu549Lys
NP_001394585.1:p.Glu549Lys
NP_001394586.1:p.Glu549Lys
NP_001394587.1:p.Glu549Lys
NP_001394588.1:p.Glu548Lys
NP_001394589.1:p.Glu548Lys
NP_001394590.1:p.Glu548Lys
NP_001394591.1:p.Glu548Lys
NP_001394592.1:p.Glu549Lys
NP_001394593.1:p.Glu534Lys
NP_001394594.1:p.Glu534Lys
NP_001394595.1:p.Glu534Lys
NP_001394596.1:p.Glu534Lys
NP_001394597.1:p.Glu534Lys
NP_001394598.1:p.Glu534Lys
NP_001394599.1:p.Glu533Lys
NP_001394600.1:p.Glu533Lys
NP_001394601.1:p.Glu533Lys
NP_001394602.1:p.Glu533Lys
NP_001394603.1:p.Glu534Lys
NP_001394604.1:p.Glu534Lys
NP_001394605.1:p.Glu534Lys
NP_001394606.1:p.Glu534Lys
NP_001394607.1:p.Glu534Lys
NP_001394608.1:p.Glu534Lys
NP_001394609.1:p.Glu534Lys
NP_001394610.1:p.Glu534Lys
NP_001394611.1:p.Glu534Lys
NP_001394612.1:p.Glu534Lys
NP_001394613.1:p.Glu575Lys
NP_001394614.1:p.Glu533Lys
NP_001394615.1:p.Glu533Lys
NP_001394616.1:p.Glu533Lys
NP_001394617.1:p.Glu533Lys
NP_001394618.1:p.Glu533Lys
NP_001394619.1:p.Glu533Lys
NP_001394620.1:p.Glu533Lys
NP_001394621.1:p.Glu528Lys
NP_001394623.1:p.Glu528Lys
NP_001394624.1:p.Glu528Lys
NP_001394625.1:p.Glu528Lys
NP_001394626.1:p.Glu528Lys
NP_001394627.1:p.Glu528Lys
NP_001394653.1:p.Glu528Lys
NP_001394654.1:p.Glu528Lys
NP_001394655.1:p.Glu528Lys
NP_001394656.1:p.Glu528Lys
NP_001394657.1:p.Glu528Lys
NP_001394658.1:p.Glu528Lys
NP_001394659.1:p.Glu528Lys
NP_001394660.1:p.Glu528Lys
NP_001394661.1:p.Glu528Lys
NP_001394662.1:p.Glu528Lys
NP_001394663.1:p.Glu528Lys
NP_001394664.1:p.Glu528Lys
NP_001394665.1:p.Glu528Lys
NP_001394666.1:p.Glu528Lys
NP_001394667.1:p.Glu528Lys
NP_001394668.1:p.Glu528Lys
NP_001394669.1:p.Glu527Lys
NP_001394670.1:p.Glu527Lys
NP_001394671.1:p.Glu527Lys
NP_001394672.1:p.Glu527Lys
NP_001394673.1:p.Glu527Lys
NP_001394674.1:p.Glu527Lys
NP_001394675.1:p.Glu527Lys
NP_001394676.1:p.Glu527Lys
NP_001394677.1:p.Glu527Lys
NP_001394678.1:p.Glu527Lys
NP_001394679.1:p.Glu528Lys
NP_001394680.1:p.Glu528Lys
NP_001394681.1:p.Glu528Lys
NP_001394767.1:p.Glu527Lys
NP_001394768.1:p.Glu527Lys
NP_001394770.1:p.Glu527Lys
NP_001394771.1:p.Glu527Lys
NP_001394772.1:p.Glu527Lys
NP_001394773.1:p.Glu527Lys
NP_001394774.1:p.Glu527Lys
NP_001394775.1:p.Glu527Lys
NP_001394776.1:p.Glu527Lys
NP_001394777.1:p.Glu527Lys
NP_001394778.1:p.Glu527Lys
NP_001394779.1:p.Glu528Lys
NP_001394780.1:p.Glu528Lys
NP_001394781.1:p.Glu528Lys
NP_001394782.1:p.Glu504Lys
NP_001394783.1:p.Glu575Lys
NP_001394787.1:p.Glu575Lys
NP_001394788.1:p.Glu575Lys
NP_001394789.1:p.Glu574Lys
NP_001394790.1:p.Glu574Lys
NP_001394791.1:p.Glu508Lys
NP_001394792.1:p.Glu534Lys
NP_001394803.1:p.Glu507Lys
NP_001394804.1:p.Glu507Lys
NP_001394808.1:p.Glu505Lys
NP_001394810.1:p.Glu505Lys
NP_001394811.1:p.Glu505Lys
NP_001394813.1:p.Glu505Lys
NP_001394814.1:p.Glu505Lys
NP_001394815.1:p.Glu505Lys
NP_001394816.1:p.Glu505Lys
NP_001394818.1:p.Glu505Lys
NP_001394823.1:p.Glu504Lys
NP_001394824.1:p.Glu504Lys
NP_001394825.1:p.Glu504Lys
NP_001394826.1:p.Glu504Lys
NP_001394827.1:p.Glu504Lys
NP_001394828.1:p.Glu504Lys
NP_001394829.1:p.Glu505Lys
NP_001394831.1:p.Glu505Lys
NP_001394833.1:p.Glu505Lys
NP_001394835.1:p.Glu505Lys
NP_001394836.1:p.Glu505Lys
NP_001394837.1:p.Glu505Lys
NP_001394838.1:p.Glu505Lys
NP_001394839.1:p.Glu505Lys
NP_001394844.1:p.Glu504Lys
NP_001394845.1:p.Glu504Lys
NP_001394846.1:p.Glu504Lys
NP_001394847.1:p.Glu504Lys
NP_001394848.1:p.Glu534Lys
NP_001394849.1:p.Glu487Lys
NP_001394850.1:p.Glu487Lys
NP_001394851.1:p.Glu487Lys
NP_001394852.1:p.Glu487Lys
NP_001394853.1:p.Glu487Lys
NP_001394854.1:p.Glu487Lys
NP_001394855.1:p.Glu487Lys
NP_001394856.1:p.Glu487Lys
NP_001394857.1:p.Glu487Lys
NP_001394858.1:p.Glu487Lys
NP_001394859.1:p.Glu486Lys
NP_001394860.1:p.Glu486Lys
NP_001394861.1:p.Glu486Lys
NP_001394862.1:p.Glu487Lys
NP_001394863.1:p.Glu486Lys
NP_001394864.1:p.Glu487Lys
NP_001394865.1:p.Glu486Lys
NP_001394866.1:p.Glu534Lys
NP_001394867.1:p.Glu534Lys
NP_001394868.1:p.Glu534Lys
NP_001394869.1:p.Glu533Lys
NP_001394870.1:p.Glu533Lys
NP_001394871.1:p.Glu528Lys
NP_001394872.1:p.Glu527Lys
NP_001394873.1:p.Glu528Lys
NP_001394874.1:p.Glu528Lys
NP_001394875.1:p.Glu464Lys
NP_001394876.1:p.Glu464Lys
NP_001394877.1:p.Glu464Lys
NP_001394878.1:p.Glu464Lys
NP_001394879.1:p.Glu464Lys
NP_001394880.1:p.Glu464Lys
NP_001394881.1:p.Glu464Lys
NP_001394882.1:p.Glu464Lys
NP_001394883.1:p.Glu463Lys
NP_001394884.1:p.Glu463Lys
NP_001394885.1:p.Glu463Lys
NP_001394886.1:p.Glu464Lys
NP_001394887.1:p.Glu463Lys
NP_001394888.1:p.Glu448Lys
NP_001394889.1:p.Glu448Lys
NP_001394891.1:p.Glu447Lys
NP_001394892.1:p.Glu448Lys
NP_001394893.1:p.Glu527Lys
NP_001394894.1:p.Glu407Lys
NP_001394895.1:p.Glu279Lys
NP_001394896.1:p.Glu279Lys
NP_009225.1:p.Glu575Lys
NP_009225.1:p.Glu575Lys
NP_009228.2:p.Glu528Lys
NP_009231.2:p.Glu575Lys
LRG_292t1:c.1723G>A
LRG_292:g.124176G>A
LRG_292p1:p.Glu575Lys
NC_000017.10:g.41245825C>T
NM_007294.3:c.1723G>A
NM_007300.3:c.1723G>A
NR_027676.1:n.1859G>A
p.E575K

Protein change:

E279K

Links:

dbSNP: rs397508902

NCBI 1000 Genomes Browser:

rs397508902

Molecular consequence:

NM_001407968.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+933G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2776G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2776G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2038G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2776G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+936G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1714G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1645G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1720G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.1513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.1459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.1387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.1342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.1342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.1339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.1342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.1579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.1582G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Membrane protein TerC, possibly involved in tellurium resistance [Xanthomonas ci...
Membrane protein TerC, possibly involved in tellurium resistance [Xanthomonas citri pv. citri]
gi|780505222|gnl|PRJNA255042|J155_0 gb|AJZ24337.1|

Protein
tRNA modification GTPase trmE [Xanthomonas citri pv. citri]
tRNA modification GTPase trmE [Xanthomonas citri pv. citri]
gi|780505227|gnl|PRJNA255042|J155_0 gb|AJZ24342.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000785316	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Jul 5, 2017)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14647443, 14973102, 18273839, 20858050, 27062684, 25348012 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV003927162	KCCC/NGS Laboratory, Kuwait Cancer Control Center	no assertion criteria provided	Uncertain significance (May 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004244116	BRCAlab, Lund University	no assertion criteria provided	Uncertain significance (Mar 2, 2020)	germline	clinical testing
SCV004818293	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (May 16, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14647443, 14973102, 27062684, 31954625, 33471991, 25741868

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	clinical testing
not provided	germline	unknown	2	not provided	not provided	108544	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

Anczuków O, Buisson M, Salles MJ, Triboulet S, Longy M, Lidereau R, Sinilnikova OM, Mazoyer S.

Genes Chromosomes Cancer. 2008 May;47(5):418-26. doi: 10.1002/gcc.20546.

PubMed [citation]

PMID:: 18273839

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, Cohen-Haguenauer O, Giurgea I, Fajac A, Noguès C, Demange L, Hardouin A, Lidereau R, Soubrier F.

Genet Test Mol Biomarkers. 2010 Oct;14(5):677-90. doi: 10.1089/gtmb.2009.0183. Epub 2010 Sep 21.

PubMed [citation]

PMID:: 20858050

See all PubMed Citations (10)

Details of each submission

From Counsyl, SCV000785316.2

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

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

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927162.1

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

Description

a variant of uncertain significance was detected in the BRCA1 gene. The p.E575K variant (also known as c.1723G>A), located in coding region of the BRCA1 gene, results from a G to A substitution at nucleotide position 1723. The glutamic acid at codon 575 is replaced by lysine, an amino acid with similar properties. The alteration did not segregate with disease in one family (PMID 14647443). In another study, this variant was shown to have no effect on alternate splicing using minigene splicing assay (PMID 18273839). An additional paper reported this alteration in 1/645 women with breast cancer from Shanghai, China (PMID 14973102). Of note, this alteration is also designated as 1842G>A in published literature. This amino acid position is not well conserved in available vertebrate species. ClinVar has an entry for this variant with 6 submissions all of which classify it as of uncertain significance, 2 stars, no conflicts. In-silico prediction for this alteration shows Pathogenic computational verdict based on 8 pathogenic predictions from BayesDel_addAF, DANN, DEOGEN2, LIST-S2, M-CAP, MVP, MutationAssessor and SIFT vs 4 benign predictions from EIGEN, FATHMM-MKL, MutationTaster and PrimateAI. Therefore, this variant is classified as on uncertain significance. Pathogenic/Likely pathogenic BRCA1 variants cause hereditary breast/ovarian cancer syndrome (HBOC).

#	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 BRCAlab, Lund University, SCV004244116.1

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

From All of Us Research Program, National Institutes of Health, SCV004818293.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (6)

Description

This missense variant replaces glutamic acid with lysine at codon 575 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). One functional study observed partial activity in an ex vivo repair assay of an extrachromosomal plasmid (PMID: 14647443). This variant has been reported in at least two unrelated individuals affected with breast cancer (PMID: 14647443, 14973102) and two suspected hereditary breast and ovarian cancer families (PMID: 27062684, 31954625). However, this variant did not segregate completely with breast cancer affected members of a family (PMID: 14647443). This variant also has been detected in a breast cancer case-control meta-analysis in 1/60466 cases and 0/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000164). This variant has been identified in 5/250624 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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