NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Benign (5 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000047326.27

Allele description [Variation Report for NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)]

NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)

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.1067A>G (p.Gln356Arg)

Other names:

p.Q356R:CAG>CGG

HGVS:

NC_000017.11:g.43094464T>C
NG_005905.2:g.123520A>G
NM_001407571.1:c.854A>G
NM_001407581.1:c.1067A>G
NM_001407582.1:c.1067A>G
NM_001407583.1:c.1067A>G
NM_001407585.1:c.1067A>G
NM_001407587.1:c.1064A>G
NM_001407590.1:c.1064A>G
NM_001407591.1:c.1064A>G
NM_001407593.1:c.1067A>G
NM_001407594.1:c.1067A>G
NM_001407596.1:c.1067A>G
NM_001407597.1:c.1067A>G
NM_001407598.1:c.1067A>G
NM_001407602.1:c.1067A>G
NM_001407603.1:c.1067A>G
NM_001407605.1:c.1067A>G
NM_001407610.1:c.1064A>G
NM_001407611.1:c.1064A>G
NM_001407612.1:c.1064A>G
NM_001407613.1:c.1064A>G
NM_001407614.1:c.1064A>G
NM_001407615.1:c.1064A>G
NM_001407616.1:c.1067A>G
NM_001407617.1:c.1067A>G
NM_001407618.1:c.1067A>G
NM_001407619.1:c.1067A>G
NM_001407620.1:c.1067A>G
NM_001407621.1:c.1067A>G
NM_001407622.1:c.1067A>G
NM_001407623.1:c.1067A>G
NM_001407624.1:c.1067A>G
NM_001407625.1:c.1067A>G
NM_001407626.1:c.1067A>G
NM_001407627.1:c.1064A>G
NM_001407628.1:c.1064A>G
NM_001407629.1:c.1064A>G
NM_001407630.1:c.1064A>G
NM_001407631.1:c.1064A>G
NM_001407632.1:c.1064A>G
NM_001407633.1:c.1064A>G
NM_001407634.1:c.1064A>G
NM_001407635.1:c.1064A>G
NM_001407636.1:c.1064A>G
NM_001407637.1:c.1064A>G
NM_001407638.1:c.1064A>G
NM_001407639.1:c.1067A>G
NM_001407640.1:c.1067A>G
NM_001407641.1:c.1067A>G
NM_001407642.1:c.1067A>G
NM_001407644.1:c.1064A>G
NM_001407645.1:c.1064A>G
NM_001407646.1:c.1058A>G
NM_001407647.1:c.1058A>G
NM_001407648.1:c.944A>G
NM_001407649.1:c.941A>G
NM_001407652.1:c.1067A>G
NM_001407653.1:c.989A>G
NM_001407654.1:c.989A>G
NM_001407655.1:c.989A>G
NM_001407656.1:c.989A>G
NM_001407657.1:c.989A>G
NM_001407658.1:c.989A>G
NM_001407659.1:c.986A>G
NM_001407660.1:c.986A>G
NM_001407661.1:c.986A>G
NM_001407662.1:c.986A>G
NM_001407663.1:c.989A>G
NM_001407664.1:c.944A>G
NM_001407665.1:c.944A>G
NM_001407666.1:c.944A>G
NM_001407667.1:c.944A>G
NM_001407668.1:c.944A>G
NM_001407669.1:c.944A>G
NM_001407670.1:c.941A>G
NM_001407671.1:c.941A>G
NM_001407672.1:c.941A>G
NM_001407673.1:c.941A>G
NM_001407674.1:c.944A>G
NM_001407675.1:c.944A>G
NM_001407676.1:c.944A>G
NM_001407677.1:c.944A>G
NM_001407678.1:c.944A>G
NM_001407679.1:c.944A>G
NM_001407680.1:c.944A>G
NM_001407681.1:c.944A>G
NM_001407682.1:c.944A>G
NM_001407683.1:c.944A>G
NM_001407684.1:c.1067A>G
NM_001407685.1:c.941A>G
NM_001407686.1:c.941A>G
NM_001407687.1:c.941A>G
NM_001407688.1:c.941A>G
NM_001407689.1:c.941A>G
NM_001407690.1:c.941A>G
NM_001407691.1:c.941A>G
NM_001407692.1:c.926A>G
NM_001407694.1:c.926A>G
NM_001407695.1:c.926A>G
NM_001407696.1:c.926A>G
NM_001407697.1:c.926A>G
NM_001407698.1:c.926A>G
NM_001407724.1:c.926A>G
NM_001407725.1:c.926A>G
NM_001407726.1:c.926A>G
NM_001407727.1:c.926A>G
NM_001407728.1:c.926A>G
NM_001407729.1:c.926A>G
NM_001407730.1:c.926A>G
NM_001407731.1:c.926A>G
NM_001407732.1:c.926A>G
NM_001407733.1:c.926A>G
NM_001407734.1:c.926A>G
NM_001407735.1:c.926A>G
NM_001407736.1:c.926A>G
NM_001407737.1:c.926A>G
NM_001407738.1:c.926A>G
NM_001407739.1:c.926A>G
NM_001407740.1:c.923A>G
NM_001407741.1:c.923A>G
NM_001407742.1:c.923A>G
NM_001407743.1:c.923A>G
NM_001407744.1:c.923A>G
NM_001407745.1:c.923A>G
NM_001407746.1:c.923A>G
NM_001407747.1:c.923A>G
NM_001407748.1:c.923A>G
NM_001407749.1:c.923A>G
NM_001407750.1:c.926A>G
NM_001407751.1:c.926A>G
NM_001407752.1:c.926A>G
NM_001407838.1:c.923A>G
NM_001407839.1:c.923A>G
NM_001407841.1:c.923A>G
NM_001407842.1:c.923A>G
NM_001407843.1:c.923A>G
NM_001407844.1:c.923A>G
NM_001407845.1:c.923A>G
NM_001407846.1:c.923A>G
NM_001407847.1:c.923A>G
NM_001407848.1:c.923A>G
NM_001407849.1:c.923A>G
NM_001407850.1:c.926A>G
NM_001407851.1:c.926A>G
NM_001407852.1:c.926A>G
NM_001407853.1:c.854A>G
NM_001407854.1:c.1067A>G
NM_001407858.1:c.1067A>G
NM_001407859.1:c.1067A>G
NM_001407860.1:c.1064A>G
NM_001407861.1:c.1064A>G
NM_001407862.1:c.866A>G
NM_001407863.1:c.944A>G
NM_001407874.1:c.863A>G
NM_001407875.1:c.863A>G
NM_001407879.1:c.857A>G
NM_001407881.1:c.857A>G
NM_001407882.1:c.857A>G
NM_001407884.1:c.857A>G
NM_001407885.1:c.857A>G
NM_001407886.1:c.857A>G
NM_001407887.1:c.857A>G
NM_001407889.1:c.857A>G
NM_001407894.1:c.854A>G
NM_001407895.1:c.854A>G
NM_001407896.1:c.854A>G
NM_001407897.1:c.854A>G
NM_001407898.1:c.854A>G
NM_001407899.1:c.854A>G
NM_001407900.1:c.857A>G
NM_001407902.1:c.857A>G
NM_001407904.1:c.857A>G
NM_001407906.1:c.857A>G
NM_001407907.1:c.857A>G
NM_001407908.1:c.857A>G
NM_001407909.1:c.857A>G
NM_001407910.1:c.857A>G
NM_001407915.1:c.854A>G
NM_001407916.1:c.854A>G
NM_001407917.1:c.854A>G
NM_001407918.1:c.854A>G
NM_001407919.1:c.944A>G
NM_001407920.1:c.803A>G
NM_001407921.1:c.803A>G
NM_001407922.1:c.803A>G
NM_001407923.1:c.803A>G
NM_001407924.1:c.803A>G
NM_001407925.1:c.803A>G
NM_001407926.1:c.803A>G
NM_001407927.1:c.803A>G
NM_001407928.1:c.803A>G
NM_001407929.1:c.803A>G
NM_001407930.1:c.800A>G
NM_001407931.1:c.800A>G
NM_001407932.1:c.800A>G
NM_001407933.1:c.803A>G
NM_001407934.1:c.800A>G
NM_001407935.1:c.803A>G
NM_001407936.1:c.800A>G
NM_001407937.1:c.944A>G
NM_001407938.1:c.944A>G
NM_001407939.1:c.944A>G
NM_001407940.1:c.941A>G
NM_001407941.1:c.941A>G
NM_001407942.1:c.926A>G
NM_001407943.1:c.923A>G
NM_001407944.1:c.926A>G
NM_001407945.1:c.926A>G
NM_001407946.1:c.734A>G
NM_001407947.1:c.734A>G
NM_001407948.1:c.734A>G
NM_001407949.1:c.734A>G
NM_001407950.1:c.734A>G
NM_001407951.1:c.734A>G
NM_001407952.1:c.734A>G
NM_001407953.1:c.734A>G
NM_001407954.1:c.731A>G
NM_001407955.1:c.731A>G
NM_001407956.1:c.731A>G
NM_001407957.1:c.734A>G
NM_001407958.1:c.731A>G
NM_001407959.1:c.686A>G
NM_001407960.1:c.686A>G
NM_001407962.1:c.683A>G
NM_001407963.1:c.686A>G
NM_001407964.1:c.923A>G
NM_001407965.1:c.563A>G
NM_001407966.1:c.179A>G
NM_001407967.1:c.179A>G
NM_001407968.1:c.787+280A>G
NM_001407969.1:c.787+280A>G
NM_001407970.1:c.787+280A>G
NM_001407971.1:c.787+280A>G
NM_001407972.1:c.784+280A>G
NM_001407973.1:c.787+280A>G
NM_001407974.1:c.787+280A>G
NM_001407975.1:c.787+280A>G
NM_001407976.1:c.787+280A>G
NM_001407977.1:c.787+280A>G
NM_001407978.1:c.787+280A>G
NM_001407979.1:c.787+280A>G
NM_001407980.1:c.787+280A>G
NM_001407981.1:c.787+280A>G
NM_001407982.1:c.787+280A>G
NM_001407983.1:c.787+280A>G
NM_001407984.1:c.784+280A>G
NM_001407985.1:c.784+280A>G
NM_001407986.1:c.784+280A>G
NM_001407990.1:c.787+280A>G
NM_001407991.1:c.784+280A>G
NM_001407992.1:c.784+280A>G
NM_001407993.1:c.787+280A>G
NM_001408392.1:c.784+280A>G
NM_001408396.1:c.784+280A>G
NM_001408397.1:c.784+280A>G
NM_001408398.1:c.784+280A>G
NM_001408399.1:c.784+280A>G
NM_001408400.1:c.784+280A>G
NM_001408401.1:c.784+280A>G
NM_001408402.1:c.784+280A>G
NM_001408403.1:c.787+280A>G
NM_001408404.1:c.787+280A>G
NM_001408406.1:c.790+277A>G
NM_001408407.1:c.784+280A>G
NM_001408408.1:c.778+280A>G
NM_001408409.1:c.709+280A>G
NM_001408410.1:c.646+280A>G
NM_001408411.1:c.709+280A>G
NM_001408412.1:c.709+280A>G
NM_001408413.1:c.706+280A>G
NM_001408414.1:c.709+280A>G
NM_001408415.1:c.709+280A>G
NM_001408416.1:c.706+280A>G
NM_001408418.1:c.670+1382A>G
NM_001408419.1:c.670+1382A>G
NM_001408420.1:c.670+1382A>G
NM_001408421.1:c.667+1382A>G
NM_001408422.1:c.670+1382A>G
NM_001408423.1:c.670+1382A>G
NM_001408424.1:c.667+1382A>G
NM_001408425.1:c.664+280A>G
NM_001408426.1:c.664+280A>G
NM_001408427.1:c.664+280A>G
NM_001408428.1:c.664+280A>G
NM_001408429.1:c.664+280A>G
NM_001408430.1:c.664+280A>G
NM_001408431.1:c.667+1382A>G
NM_001408432.1:c.661+280A>G
NM_001408433.1:c.661+280A>G
NM_001408434.1:c.661+280A>G
NM_001408435.1:c.661+280A>G
NM_001408436.1:c.664+280A>G
NM_001408437.1:c.664+280A>G
NM_001408438.1:c.664+280A>G
NM_001408439.1:c.664+280A>G
NM_001408440.1:c.664+280A>G
NM_001408441.1:c.664+280A>G
NM_001408442.1:c.664+280A>G
NM_001408443.1:c.664+280A>G
NM_001408444.1:c.664+280A>G
NM_001408445.1:c.661+280A>G
NM_001408446.1:c.661+280A>G
NM_001408447.1:c.661+280A>G
NM_001408448.1:c.661+280A>G
NM_001408450.1:c.661+280A>G
NM_001408451.1:c.652+280A>G
NM_001408452.1:c.646+280A>G
NM_001408453.1:c.646+280A>G
NM_001408454.1:c.646+280A>G
NM_001408455.1:c.646+280A>G
NM_001408456.1:c.646+280A>G
NM_001408457.1:c.646+280A>G
NM_001408458.1:c.646+280A>G
NM_001408459.1:c.646+280A>G
NM_001408460.1:c.646+280A>G
NM_001408461.1:c.646+280A>G
NM_001408462.1:c.643+280A>G
NM_001408463.1:c.643+280A>G
NM_001408464.1:c.643+280A>G
NM_001408465.1:c.643+280A>G
NM_001408466.1:c.646+280A>G
NM_001408467.1:c.646+280A>G
NM_001408468.1:c.643+280A>G
NM_001408469.1:c.646+280A>G
NM_001408470.1:c.643+280A>G
NM_001408472.1:c.787+280A>G
NM_001408473.1:c.784+280A>G
NM_001408474.1:c.586+280A>G
NM_001408475.1:c.583+280A>G
NM_001408476.1:c.586+280A>G
NM_001408478.1:c.577+280A>G
NM_001408479.1:c.577+280A>G
NM_001408480.1:c.577+280A>G
NM_001408481.1:c.577+280A>G
NM_001408482.1:c.577+280A>G
NM_001408483.1:c.577+280A>G
NM_001408484.1:c.577+280A>G
NM_001408485.1:c.577+280A>G
NM_001408489.1:c.577+280A>G
NM_001408490.1:c.574+280A>G
NM_001408491.1:c.574+280A>G
NM_001408492.1:c.577+280A>G
NM_001408493.1:c.574+280A>G
NM_001408494.1:c.548-3432A>G
NM_001408495.1:c.545-3432A>G
NM_001408496.1:c.523+280A>G
NM_001408497.1:c.523+280A>G
NM_001408498.1:c.523+280A>G
NM_001408499.1:c.523+280A>G
NM_001408500.1:c.523+280A>G
NM_001408501.1:c.523+280A>G
NM_001408502.1:c.454+280A>G
NM_001408503.1:c.520+280A>G
NM_001408504.1:c.520+280A>G
NM_001408505.1:c.520+280A>G
NM_001408506.1:c.460+1382A>G
NM_001408507.1:c.460+1382A>G
NM_001408508.1:c.451+280A>G
NM_001408509.1:c.451+280A>G
NM_001408510.1:c.406+280A>G
NM_001408511.1:c.404-3432A>G
NM_001408512.1:c.283+280A>G
NM_001408513.1:c.577+280A>G
NM_001408514.1:c.577+280A>G
NM_007294.4:c.1067A>GMANE SELECT
NM_007297.4:c.926A>G
NM_007298.4:c.787+280A>G
NM_007299.4:c.787+280A>G
NM_007300.4:c.1067A>G
NP_001394500.1:p.Gln285Arg
NP_001394510.1:p.Gln356Arg
NP_001394511.1:p.Gln356Arg
NP_001394512.1:p.Gln356Arg
NP_001394514.1:p.Gln356Arg
NP_001394516.1:p.Gln355Arg
NP_001394519.1:p.Gln355Arg
NP_001394520.1:p.Gln355Arg
NP_001394522.1:p.Gln356Arg
NP_001394523.1:p.Gln356Arg
NP_001394525.1:p.Gln356Arg
NP_001394526.1:p.Gln356Arg
NP_001394527.1:p.Gln356Arg
NP_001394531.1:p.Gln356Arg
NP_001394532.1:p.Gln356Arg
NP_001394534.1:p.Gln356Arg
NP_001394539.1:p.Gln355Arg
NP_001394540.1:p.Gln355Arg
NP_001394541.1:p.Gln355Arg
NP_001394542.1:p.Gln355Arg
NP_001394543.1:p.Gln355Arg
NP_001394544.1:p.Gln355Arg
NP_001394545.1:p.Gln356Arg
NP_001394546.1:p.Gln356Arg
NP_001394547.1:p.Gln356Arg
NP_001394548.1:p.Gln356Arg
NP_001394549.1:p.Gln356Arg
NP_001394550.1:p.Gln356Arg
NP_001394551.1:p.Gln356Arg
NP_001394552.1:p.Gln356Arg
NP_001394553.1:p.Gln356Arg
NP_001394554.1:p.Gln356Arg
NP_001394555.1:p.Gln356Arg
NP_001394556.1:p.Gln355Arg
NP_001394557.1:p.Gln355Arg
NP_001394558.1:p.Gln355Arg
NP_001394559.1:p.Gln355Arg
NP_001394560.1:p.Gln355Arg
NP_001394561.1:p.Gln355Arg
NP_001394562.1:p.Gln355Arg
NP_001394563.1:p.Gln355Arg
NP_001394564.1:p.Gln355Arg
NP_001394565.1:p.Gln355Arg
NP_001394566.1:p.Gln355Arg
NP_001394567.1:p.Gln355Arg
NP_001394568.1:p.Gln356Arg
NP_001394569.1:p.Gln356Arg
NP_001394570.1:p.Gln356Arg
NP_001394571.1:p.Gln356Arg
NP_001394573.1:p.Gln355Arg
NP_001394574.1:p.Gln355Arg
NP_001394575.1:p.Gln353Arg
NP_001394576.1:p.Gln353Arg
NP_001394577.1:p.Gln315Arg
NP_001394578.1:p.Gln314Arg
NP_001394581.1:p.Gln356Arg
NP_001394582.1:p.Gln330Arg
NP_001394583.1:p.Gln330Arg
NP_001394584.1:p.Gln330Arg
NP_001394585.1:p.Gln330Arg
NP_001394586.1:p.Gln330Arg
NP_001394587.1:p.Gln330Arg
NP_001394588.1:p.Gln329Arg
NP_001394589.1:p.Gln329Arg
NP_001394590.1:p.Gln329Arg
NP_001394591.1:p.Gln329Arg
NP_001394592.1:p.Gln330Arg
NP_001394593.1:p.Gln315Arg
NP_001394594.1:p.Gln315Arg
NP_001394595.1:p.Gln315Arg
NP_001394596.1:p.Gln315Arg
NP_001394597.1:p.Gln315Arg
NP_001394598.1:p.Gln315Arg
NP_001394599.1:p.Gln314Arg
NP_001394600.1:p.Gln314Arg
NP_001394601.1:p.Gln314Arg
NP_001394602.1:p.Gln314Arg
NP_001394603.1:p.Gln315Arg
NP_001394604.1:p.Gln315Arg
NP_001394605.1:p.Gln315Arg
NP_001394606.1:p.Gln315Arg
NP_001394607.1:p.Gln315Arg
NP_001394608.1:p.Gln315Arg
NP_001394609.1:p.Gln315Arg
NP_001394610.1:p.Gln315Arg
NP_001394611.1:p.Gln315Arg
NP_001394612.1:p.Gln315Arg
NP_001394613.1:p.Gln356Arg
NP_001394614.1:p.Gln314Arg
NP_001394615.1:p.Gln314Arg
NP_001394616.1:p.Gln314Arg
NP_001394617.1:p.Gln314Arg
NP_001394618.1:p.Gln314Arg
NP_001394619.1:p.Gln314Arg
NP_001394620.1:p.Gln314Arg
NP_001394621.1:p.Gln309Arg
NP_001394623.1:p.Gln309Arg
NP_001394624.1:p.Gln309Arg
NP_001394625.1:p.Gln309Arg
NP_001394626.1:p.Gln309Arg
NP_001394627.1:p.Gln309Arg
NP_001394653.1:p.Gln309Arg
NP_001394654.1:p.Gln309Arg
NP_001394655.1:p.Gln309Arg
NP_001394656.1:p.Gln309Arg
NP_001394657.1:p.Gln309Arg
NP_001394658.1:p.Gln309Arg
NP_001394659.1:p.Gln309Arg
NP_001394660.1:p.Gln309Arg
NP_001394661.1:p.Gln309Arg
NP_001394662.1:p.Gln309Arg
NP_001394663.1:p.Gln309Arg
NP_001394664.1:p.Gln309Arg
NP_001394665.1:p.Gln309Arg
NP_001394666.1:p.Gln309Arg
NP_001394667.1:p.Gln309Arg
NP_001394668.1:p.Gln309Arg
NP_001394669.1:p.Gln308Arg
NP_001394670.1:p.Gln308Arg
NP_001394671.1:p.Gln308Arg
NP_001394672.1:p.Gln308Arg
NP_001394673.1:p.Gln308Arg
NP_001394674.1:p.Gln308Arg
NP_001394675.1:p.Gln308Arg
NP_001394676.1:p.Gln308Arg
NP_001394677.1:p.Gln308Arg
NP_001394678.1:p.Gln308Arg
NP_001394679.1:p.Gln309Arg
NP_001394680.1:p.Gln309Arg
NP_001394681.1:p.Gln309Arg
NP_001394767.1:p.Gln308Arg
NP_001394768.1:p.Gln308Arg
NP_001394770.1:p.Gln308Arg
NP_001394771.1:p.Gln308Arg
NP_001394772.1:p.Gln308Arg
NP_001394773.1:p.Gln308Arg
NP_001394774.1:p.Gln308Arg
NP_001394775.1:p.Gln308Arg
NP_001394776.1:p.Gln308Arg
NP_001394777.1:p.Gln308Arg
NP_001394778.1:p.Gln308Arg
NP_001394779.1:p.Gln309Arg
NP_001394780.1:p.Gln309Arg
NP_001394781.1:p.Gln309Arg
NP_001394782.1:p.Gln285Arg
NP_001394783.1:p.Gln356Arg
NP_001394787.1:p.Gln356Arg
NP_001394788.1:p.Gln356Arg
NP_001394789.1:p.Gln355Arg
NP_001394790.1:p.Gln355Arg
NP_001394791.1:p.Gln289Arg
NP_001394792.1:p.Gln315Arg
NP_001394803.1:p.Gln288Arg
NP_001394804.1:p.Gln288Arg
NP_001394808.1:p.Gln286Arg
NP_001394810.1:p.Gln286Arg
NP_001394811.1:p.Gln286Arg
NP_001394813.1:p.Gln286Arg
NP_001394814.1:p.Gln286Arg
NP_001394815.1:p.Gln286Arg
NP_001394816.1:p.Gln286Arg
NP_001394818.1:p.Gln286Arg
NP_001394823.1:p.Gln285Arg
NP_001394824.1:p.Gln285Arg
NP_001394825.1:p.Gln285Arg
NP_001394826.1:p.Gln285Arg
NP_001394827.1:p.Gln285Arg
NP_001394828.1:p.Gln285Arg
NP_001394829.1:p.Gln286Arg
NP_001394831.1:p.Gln286Arg
NP_001394833.1:p.Gln286Arg
NP_001394835.1:p.Gln286Arg
NP_001394836.1:p.Gln286Arg
NP_001394837.1:p.Gln286Arg
NP_001394838.1:p.Gln286Arg
NP_001394839.1:p.Gln286Arg
NP_001394844.1:p.Gln285Arg
NP_001394845.1:p.Gln285Arg
NP_001394846.1:p.Gln285Arg
NP_001394847.1:p.Gln285Arg
NP_001394848.1:p.Gln315Arg
NP_001394849.1:p.Gln268Arg
NP_001394850.1:p.Gln268Arg
NP_001394851.1:p.Gln268Arg
NP_001394852.1:p.Gln268Arg
NP_001394853.1:p.Gln268Arg
NP_001394854.1:p.Gln268Arg
NP_001394855.1:p.Gln268Arg
NP_001394856.1:p.Gln268Arg
NP_001394857.1:p.Gln268Arg
NP_001394858.1:p.Gln268Arg
NP_001394859.1:p.Gln267Arg
NP_001394860.1:p.Gln267Arg
NP_001394861.1:p.Gln267Arg
NP_001394862.1:p.Gln268Arg
NP_001394863.1:p.Gln267Arg
NP_001394864.1:p.Gln268Arg
NP_001394865.1:p.Gln267Arg
NP_001394866.1:p.Gln315Arg
NP_001394867.1:p.Gln315Arg
NP_001394868.1:p.Gln315Arg
NP_001394869.1:p.Gln314Arg
NP_001394870.1:p.Gln314Arg
NP_001394871.1:p.Gln309Arg
NP_001394872.1:p.Gln308Arg
NP_001394873.1:p.Gln309Arg
NP_001394874.1:p.Gln309Arg
NP_001394875.1:p.Gln245Arg
NP_001394876.1:p.Gln245Arg
NP_001394877.1:p.Gln245Arg
NP_001394878.1:p.Gln245Arg
NP_001394879.1:p.Gln245Arg
NP_001394880.1:p.Gln245Arg
NP_001394881.1:p.Gln245Arg
NP_001394882.1:p.Gln245Arg
NP_001394883.1:p.Gln244Arg
NP_001394884.1:p.Gln244Arg
NP_001394885.1:p.Gln244Arg
NP_001394886.1:p.Gln245Arg
NP_001394887.1:p.Gln244Arg
NP_001394888.1:p.Gln229Arg
NP_001394889.1:p.Gln229Arg
NP_001394891.1:p.Gln228Arg
NP_001394892.1:p.Gln229Arg
NP_001394893.1:p.Gln308Arg
NP_001394894.1:p.Gln188Arg
NP_001394895.1:p.Gln60Arg
NP_001394896.1:p.Gln60Arg
NP_009225.1:p.Gln356Arg
NP_009225.1:p.Gln356Arg
NP_009228.2:p.Gln309Arg
NP_009231.2:p.Gln356Arg
LRG_292t1:c.1067A>G
LRG_292:g.123520A>G
LRG_292p1:p.Gln356Arg
NC_000017.10:g.41246481T>C
NM_007294.2:c.1067A>G
NM_007294.3:c.1067A>G
NM_007294.3:c.1067A>G
NM_007299.3:c.787+280A>G
NM_007300.3:c.1067A>G
NR_027676.1:n.1203A>G
P38398:p.Gln356Arg
U14680.1:n.1186A>G
p.Q356R

Nucleotide change:

1186A>G

Protein change:

Q188R

Links:

BRCA1-HCI: BRCA1_00014; UniProtKB: P38398#VAR_007762; dbSNP: rs1799950

NCBI 1000 Genomes Browser:

rs1799950

Molecular consequence:

NM_001407968.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+277A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3432A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3432A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1382A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3432A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+280A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1058A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.986A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.989A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1064A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.863A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.863A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.803A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.734A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.731A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.923A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.563A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.926A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000075339	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000258058	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	criteria provided, single submitter (DGD Variant Analysis Guidelines)	Benign (Apr 17, 2015)	unknown	clinical testing	DGD_Variant_Analysis_Guidelines.docx, Citation Link,
SCV000494299	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Jan 7, 2014)	germline	clinical testing	PubMed (18) [See all records that cite these PMIDs] 22703879, 21965345, 21990134, 16014699, 20104584, 17341484, 15235020, 21702907, 9063749, 14555511, 23469205, 17585057, 23249957, 10196379, 21708019, 23192404, 11400546, 22136207 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV002026006	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002515165	Genetics Program, Instituto Nacional de Cancer	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 1, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36329109

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	23	not provided	not provided	not provided	not provided	clinical testing, research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703879
PMCID:: PMC3397257

See all PubMed Citations (21)

Details of each submission

From Invitae, SCV000075339.12

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

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

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000258058.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000494299.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (18)

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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002026006.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	23	not provided	not provided	clinical testing	PubMed (1)

#	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		23	not provided	not provided	not provided

From Genetics Program, Instituto Nacional de Cancer, SCV002515165.1

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

#	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

Last Updated: Apr 20, 2024

ClinVar

Relating variation to medicine