NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001204569.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)]

NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)

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.1040T>A (p.Leu347Gln)

HGVS:

NC_000017.11:g.43094491A>T
NG_005905.2:g.123493T>A
NM_001407571.1:c.827T>A
NM_001407581.1:c.1040T>A
NM_001407582.1:c.1040T>A
NM_001407583.1:c.1040T>A
NM_001407585.1:c.1040T>A
NM_001407587.1:c.1037T>A
NM_001407590.1:c.1037T>A
NM_001407591.1:c.1037T>A
NM_001407593.1:c.1040T>A
NM_001407594.1:c.1040T>A
NM_001407596.1:c.1040T>A
NM_001407597.1:c.1040T>A
NM_001407598.1:c.1040T>A
NM_001407602.1:c.1040T>A
NM_001407603.1:c.1040T>A
NM_001407605.1:c.1040T>A
NM_001407610.1:c.1037T>A
NM_001407611.1:c.1037T>A
NM_001407612.1:c.1037T>A
NM_001407613.1:c.1037T>A
NM_001407614.1:c.1037T>A
NM_001407615.1:c.1037T>A
NM_001407616.1:c.1040T>A
NM_001407617.1:c.1040T>A
NM_001407618.1:c.1040T>A
NM_001407619.1:c.1040T>A
NM_001407620.1:c.1040T>A
NM_001407621.1:c.1040T>A
NM_001407622.1:c.1040T>A
NM_001407623.1:c.1040T>A
NM_001407624.1:c.1040T>A
NM_001407625.1:c.1040T>A
NM_001407626.1:c.1040T>A
NM_001407627.1:c.1037T>A
NM_001407628.1:c.1037T>A
NM_001407629.1:c.1037T>A
NM_001407630.1:c.1037T>A
NM_001407631.1:c.1037T>A
NM_001407632.1:c.1037T>A
NM_001407633.1:c.1037T>A
NM_001407634.1:c.1037T>A
NM_001407635.1:c.1037T>A
NM_001407636.1:c.1037T>A
NM_001407637.1:c.1037T>A
NM_001407638.1:c.1037T>A
NM_001407639.1:c.1040T>A
NM_001407640.1:c.1040T>A
NM_001407641.1:c.1040T>A
NM_001407642.1:c.1040T>A
NM_001407644.1:c.1037T>A
NM_001407645.1:c.1037T>A
NM_001407646.1:c.1031T>A
NM_001407647.1:c.1031T>A
NM_001407648.1:c.917T>A
NM_001407649.1:c.914T>A
NM_001407652.1:c.1040T>A
NM_001407653.1:c.962T>A
NM_001407654.1:c.962T>A
NM_001407655.1:c.962T>A
NM_001407656.1:c.962T>A
NM_001407657.1:c.962T>A
NM_001407658.1:c.962T>A
NM_001407659.1:c.959T>A
NM_001407660.1:c.959T>A
NM_001407661.1:c.959T>A
NM_001407662.1:c.959T>A
NM_001407663.1:c.962T>A
NM_001407664.1:c.917T>A
NM_001407665.1:c.917T>A
NM_001407666.1:c.917T>A
NM_001407667.1:c.917T>A
NM_001407668.1:c.917T>A
NM_001407669.1:c.917T>A
NM_001407670.1:c.914T>A
NM_001407671.1:c.914T>A
NM_001407672.1:c.914T>A
NM_001407673.1:c.914T>A
NM_001407674.1:c.917T>A
NM_001407675.1:c.917T>A
NM_001407676.1:c.917T>A
NM_001407677.1:c.917T>A
NM_001407678.1:c.917T>A
NM_001407679.1:c.917T>A
NM_001407680.1:c.917T>A
NM_001407681.1:c.917T>A
NM_001407682.1:c.917T>A
NM_001407683.1:c.917T>A
NM_001407684.1:c.1040T>A
NM_001407685.1:c.914T>A
NM_001407686.1:c.914T>A
NM_001407687.1:c.914T>A
NM_001407688.1:c.914T>A
NM_001407689.1:c.914T>A
NM_001407690.1:c.914T>A
NM_001407691.1:c.914T>A
NM_001407692.1:c.899T>A
NM_001407694.1:c.899T>A
NM_001407695.1:c.899T>A
NM_001407696.1:c.899T>A
NM_001407697.1:c.899T>A
NM_001407698.1:c.899T>A
NM_001407724.1:c.899T>A
NM_001407725.1:c.899T>A
NM_001407726.1:c.899T>A
NM_001407727.1:c.899T>A
NM_001407728.1:c.899T>A
NM_001407729.1:c.899T>A
NM_001407730.1:c.899T>A
NM_001407731.1:c.899T>A
NM_001407732.1:c.899T>A
NM_001407733.1:c.899T>A
NM_001407734.1:c.899T>A
NM_001407735.1:c.899T>A
NM_001407736.1:c.899T>A
NM_001407737.1:c.899T>A
NM_001407738.1:c.899T>A
NM_001407739.1:c.899T>A
NM_001407740.1:c.896T>A
NM_001407741.1:c.896T>A
NM_001407742.1:c.896T>A
NM_001407743.1:c.896T>A
NM_001407744.1:c.896T>A
NM_001407745.1:c.896T>A
NM_001407746.1:c.896T>A
NM_001407747.1:c.896T>A
NM_001407748.1:c.896T>A
NM_001407749.1:c.896T>A
NM_001407750.1:c.899T>A
NM_001407751.1:c.899T>A
NM_001407752.1:c.899T>A
NM_001407838.1:c.896T>A
NM_001407839.1:c.896T>A
NM_001407841.1:c.896T>A
NM_001407842.1:c.896T>A
NM_001407843.1:c.896T>A
NM_001407844.1:c.896T>A
NM_001407845.1:c.896T>A
NM_001407846.1:c.896T>A
NM_001407847.1:c.896T>A
NM_001407848.1:c.896T>A
NM_001407849.1:c.896T>A
NM_001407850.1:c.899T>A
NM_001407851.1:c.899T>A
NM_001407852.1:c.899T>A
NM_001407853.1:c.827T>A
NM_001407854.1:c.1040T>A
NM_001407858.1:c.1040T>A
NM_001407859.1:c.1040T>A
NM_001407860.1:c.1037T>A
NM_001407861.1:c.1037T>A
NM_001407862.1:c.839T>A
NM_001407863.1:c.917T>A
NM_001407874.1:c.836T>A
NM_001407875.1:c.836T>A
NM_001407879.1:c.830T>A
NM_001407881.1:c.830T>A
NM_001407882.1:c.830T>A
NM_001407884.1:c.830T>A
NM_001407885.1:c.830T>A
NM_001407886.1:c.830T>A
NM_001407887.1:c.830T>A
NM_001407889.1:c.830T>A
NM_001407894.1:c.827T>A
NM_001407895.1:c.827T>A
NM_001407896.1:c.827T>A
NM_001407897.1:c.827T>A
NM_001407898.1:c.827T>A
NM_001407899.1:c.827T>A
NM_001407900.1:c.830T>A
NM_001407902.1:c.830T>A
NM_001407904.1:c.830T>A
NM_001407906.1:c.830T>A
NM_001407907.1:c.830T>A
NM_001407908.1:c.830T>A
NM_001407909.1:c.830T>A
NM_001407910.1:c.830T>A
NM_001407915.1:c.827T>A
NM_001407916.1:c.827T>A
NM_001407917.1:c.827T>A
NM_001407918.1:c.827T>A
NM_001407919.1:c.917T>A
NM_001407920.1:c.776T>A
NM_001407921.1:c.776T>A
NM_001407922.1:c.776T>A
NM_001407923.1:c.776T>A
NM_001407924.1:c.776T>A
NM_001407925.1:c.776T>A
NM_001407926.1:c.776T>A
NM_001407927.1:c.776T>A
NM_001407928.1:c.776T>A
NM_001407929.1:c.776T>A
NM_001407930.1:c.773T>A
NM_001407931.1:c.773T>A
NM_001407932.1:c.773T>A
NM_001407933.1:c.776T>A
NM_001407934.1:c.773T>A
NM_001407935.1:c.776T>A
NM_001407936.1:c.773T>A
NM_001407937.1:c.917T>A
NM_001407938.1:c.917T>A
NM_001407939.1:c.917T>A
NM_001407940.1:c.914T>A
NM_001407941.1:c.914T>A
NM_001407942.1:c.899T>A
NM_001407943.1:c.896T>A
NM_001407944.1:c.899T>A
NM_001407945.1:c.899T>A
NM_001407946.1:c.707T>A
NM_001407947.1:c.707T>A
NM_001407948.1:c.707T>A
NM_001407949.1:c.707T>A
NM_001407950.1:c.707T>A
NM_001407951.1:c.707T>A
NM_001407952.1:c.707T>A
NM_001407953.1:c.707T>A
NM_001407954.1:c.704T>A
NM_001407955.1:c.704T>A
NM_001407956.1:c.704T>A
NM_001407957.1:c.707T>A
NM_001407958.1:c.704T>A
NM_001407959.1:c.659T>A
NM_001407960.1:c.659T>A
NM_001407962.1:c.656T>A
NM_001407963.1:c.659T>A
NM_001407964.1:c.896T>A
NM_001407965.1:c.536T>A
NM_001407966.1:c.152T>A
NM_001407967.1:c.152T>A
NM_001407968.1:c.787+253T>A
NM_001407969.1:c.787+253T>A
NM_001407970.1:c.787+253T>A
NM_001407971.1:c.787+253T>A
NM_001407972.1:c.784+253T>A
NM_001407973.1:c.787+253T>A
NM_001407974.1:c.787+253T>A
NM_001407975.1:c.787+253T>A
NM_001407976.1:c.787+253T>A
NM_001407977.1:c.787+253T>A
NM_001407978.1:c.787+253T>A
NM_001407979.1:c.787+253T>A
NM_001407980.1:c.787+253T>A
NM_001407981.1:c.787+253T>A
NM_001407982.1:c.787+253T>A
NM_001407983.1:c.787+253T>A
NM_001407984.1:c.784+253T>A
NM_001407985.1:c.784+253T>A
NM_001407986.1:c.784+253T>A
NM_001407990.1:c.787+253T>A
NM_001407991.1:c.784+253T>A
NM_001407992.1:c.784+253T>A
NM_001407993.1:c.787+253T>A
NM_001408392.1:c.784+253T>A
NM_001408396.1:c.784+253T>A
NM_001408397.1:c.784+253T>A
NM_001408398.1:c.784+253T>A
NM_001408399.1:c.784+253T>A
NM_001408400.1:c.784+253T>A
NM_001408401.1:c.784+253T>A
NM_001408402.1:c.784+253T>A
NM_001408403.1:c.787+253T>A
NM_001408404.1:c.787+253T>A
NM_001408406.1:c.790+250T>A
NM_001408407.1:c.784+253T>A
NM_001408408.1:c.778+253T>A
NM_001408409.1:c.709+253T>A
NM_001408410.1:c.646+253T>A
NM_001408411.1:c.709+253T>A
NM_001408412.1:c.709+253T>A
NM_001408413.1:c.706+253T>A
NM_001408414.1:c.709+253T>A
NM_001408415.1:c.709+253T>A
NM_001408416.1:c.706+253T>A
NM_001408418.1:c.670+1355T>A
NM_001408419.1:c.670+1355T>A
NM_001408420.1:c.670+1355T>A
NM_001408421.1:c.667+1355T>A
NM_001408422.1:c.670+1355T>A
NM_001408423.1:c.670+1355T>A
NM_001408424.1:c.667+1355T>A
NM_001408425.1:c.664+253T>A
NM_001408426.1:c.664+253T>A
NM_001408427.1:c.664+253T>A
NM_001408428.1:c.664+253T>A
NM_001408429.1:c.664+253T>A
NM_001408430.1:c.664+253T>A
NM_001408431.1:c.667+1355T>A
NM_001408432.1:c.661+253T>A
NM_001408433.1:c.661+253T>A
NM_001408434.1:c.661+253T>A
NM_001408435.1:c.661+253T>A
NM_001408436.1:c.664+253T>A
NM_001408437.1:c.664+253T>A
NM_001408438.1:c.664+253T>A
NM_001408439.1:c.664+253T>A
NM_001408440.1:c.664+253T>A
NM_001408441.1:c.664+253T>A
NM_001408442.1:c.664+253T>A
NM_001408443.1:c.664+253T>A
NM_001408444.1:c.664+253T>A
NM_001408445.1:c.661+253T>A
NM_001408446.1:c.661+253T>A
NM_001408447.1:c.661+253T>A
NM_001408448.1:c.661+253T>A
NM_001408450.1:c.661+253T>A
NM_001408451.1:c.652+253T>A
NM_001408452.1:c.646+253T>A
NM_001408453.1:c.646+253T>A
NM_001408454.1:c.646+253T>A
NM_001408455.1:c.646+253T>A
NM_001408456.1:c.646+253T>A
NM_001408457.1:c.646+253T>A
NM_001408458.1:c.646+253T>A
NM_001408459.1:c.646+253T>A
NM_001408460.1:c.646+253T>A
NM_001408461.1:c.646+253T>A
NM_001408462.1:c.643+253T>A
NM_001408463.1:c.643+253T>A
NM_001408464.1:c.643+253T>A
NM_001408465.1:c.643+253T>A
NM_001408466.1:c.646+253T>A
NM_001408467.1:c.646+253T>A
NM_001408468.1:c.643+253T>A
NM_001408469.1:c.646+253T>A
NM_001408470.1:c.643+253T>A
NM_001408472.1:c.787+253T>A
NM_001408473.1:c.784+253T>A
NM_001408474.1:c.586+253T>A
NM_001408475.1:c.583+253T>A
NM_001408476.1:c.586+253T>A
NM_001408478.1:c.577+253T>A
NM_001408479.1:c.577+253T>A
NM_001408480.1:c.577+253T>A
NM_001408481.1:c.577+253T>A
NM_001408482.1:c.577+253T>A
NM_001408483.1:c.577+253T>A
NM_001408484.1:c.577+253T>A
NM_001408485.1:c.577+253T>A
NM_001408489.1:c.577+253T>A
NM_001408490.1:c.574+253T>A
NM_001408491.1:c.574+253T>A
NM_001408492.1:c.577+253T>A
NM_001408493.1:c.574+253T>A
NM_001408494.1:c.548-3459T>A
NM_001408495.1:c.545-3459T>A
NM_001408496.1:c.523+253T>A
NM_001408497.1:c.523+253T>A
NM_001408498.1:c.523+253T>A
NM_001408499.1:c.523+253T>A
NM_001408500.1:c.523+253T>A
NM_001408501.1:c.523+253T>A
NM_001408502.1:c.454+253T>A
NM_001408503.1:c.520+253T>A
NM_001408504.1:c.520+253T>A
NM_001408505.1:c.520+253T>A
NM_001408506.1:c.460+1355T>A
NM_001408507.1:c.460+1355T>A
NM_001408508.1:c.451+253T>A
NM_001408509.1:c.451+253T>A
NM_001408510.1:c.406+253T>A
NM_001408511.1:c.404-3459T>A
NM_001408512.1:c.283+253T>A
NM_001408513.1:c.577+253T>A
NM_001408514.1:c.577+253T>A
NM_007294.4:c.1040T>AMANE SELECT
NM_007297.4:c.899T>A
NM_007298.4:c.787+253T>A
NM_007299.4:c.787+253T>A
NM_007300.4:c.1040T>A
NP_001394500.1:p.Leu276Gln
NP_001394510.1:p.Leu347Gln
NP_001394511.1:p.Leu347Gln
NP_001394512.1:p.Leu347Gln
NP_001394514.1:p.Leu347Gln
NP_001394516.1:p.Leu346Gln
NP_001394519.1:p.Leu346Gln
NP_001394520.1:p.Leu346Gln
NP_001394522.1:p.Leu347Gln
NP_001394523.1:p.Leu347Gln
NP_001394525.1:p.Leu347Gln
NP_001394526.1:p.Leu347Gln
NP_001394527.1:p.Leu347Gln
NP_001394531.1:p.Leu347Gln
NP_001394532.1:p.Leu347Gln
NP_001394534.1:p.Leu347Gln
NP_001394539.1:p.Leu346Gln
NP_001394540.1:p.Leu346Gln
NP_001394541.1:p.Leu346Gln
NP_001394542.1:p.Leu346Gln
NP_001394543.1:p.Leu346Gln
NP_001394544.1:p.Leu346Gln
NP_001394545.1:p.Leu347Gln
NP_001394546.1:p.Leu347Gln
NP_001394547.1:p.Leu347Gln
NP_001394548.1:p.Leu347Gln
NP_001394549.1:p.Leu347Gln
NP_001394550.1:p.Leu347Gln
NP_001394551.1:p.Leu347Gln
NP_001394552.1:p.Leu347Gln
NP_001394553.1:p.Leu347Gln
NP_001394554.1:p.Leu347Gln
NP_001394555.1:p.Leu347Gln
NP_001394556.1:p.Leu346Gln
NP_001394557.1:p.Leu346Gln
NP_001394558.1:p.Leu346Gln
NP_001394559.1:p.Leu346Gln
NP_001394560.1:p.Leu346Gln
NP_001394561.1:p.Leu346Gln
NP_001394562.1:p.Leu346Gln
NP_001394563.1:p.Leu346Gln
NP_001394564.1:p.Leu346Gln
NP_001394565.1:p.Leu346Gln
NP_001394566.1:p.Leu346Gln
NP_001394567.1:p.Leu346Gln
NP_001394568.1:p.Leu347Gln
NP_001394569.1:p.Leu347Gln
NP_001394570.1:p.Leu347Gln
NP_001394571.1:p.Leu347Gln
NP_001394573.1:p.Leu346Gln
NP_001394574.1:p.Leu346Gln
NP_001394575.1:p.Leu344Gln
NP_001394576.1:p.Leu344Gln
NP_001394577.1:p.Leu306Gln
NP_001394578.1:p.Leu305Gln
NP_001394581.1:p.Leu347Gln
NP_001394582.1:p.Leu321Gln
NP_001394583.1:p.Leu321Gln
NP_001394584.1:p.Leu321Gln
NP_001394585.1:p.Leu321Gln
NP_001394586.1:p.Leu321Gln
NP_001394587.1:p.Leu321Gln
NP_001394588.1:p.Leu320Gln
NP_001394589.1:p.Leu320Gln
NP_001394590.1:p.Leu320Gln
NP_001394591.1:p.Leu320Gln
NP_001394592.1:p.Leu321Gln
NP_001394593.1:p.Leu306Gln
NP_001394594.1:p.Leu306Gln
NP_001394595.1:p.Leu306Gln
NP_001394596.1:p.Leu306Gln
NP_001394597.1:p.Leu306Gln
NP_001394598.1:p.Leu306Gln
NP_001394599.1:p.Leu305Gln
NP_001394600.1:p.Leu305Gln
NP_001394601.1:p.Leu305Gln
NP_001394602.1:p.Leu305Gln
NP_001394603.1:p.Leu306Gln
NP_001394604.1:p.Leu306Gln
NP_001394605.1:p.Leu306Gln
NP_001394606.1:p.Leu306Gln
NP_001394607.1:p.Leu306Gln
NP_001394608.1:p.Leu306Gln
NP_001394609.1:p.Leu306Gln
NP_001394610.1:p.Leu306Gln
NP_001394611.1:p.Leu306Gln
NP_001394612.1:p.Leu306Gln
NP_001394613.1:p.Leu347Gln
NP_001394614.1:p.Leu305Gln
NP_001394615.1:p.Leu305Gln
NP_001394616.1:p.Leu305Gln
NP_001394617.1:p.Leu305Gln
NP_001394618.1:p.Leu305Gln
NP_001394619.1:p.Leu305Gln
NP_001394620.1:p.Leu305Gln
NP_001394621.1:p.Leu300Gln
NP_001394623.1:p.Leu300Gln
NP_001394624.1:p.Leu300Gln
NP_001394625.1:p.Leu300Gln
NP_001394626.1:p.Leu300Gln
NP_001394627.1:p.Leu300Gln
NP_001394653.1:p.Leu300Gln
NP_001394654.1:p.Leu300Gln
NP_001394655.1:p.Leu300Gln
NP_001394656.1:p.Leu300Gln
NP_001394657.1:p.Leu300Gln
NP_001394658.1:p.Leu300Gln
NP_001394659.1:p.Leu300Gln
NP_001394660.1:p.Leu300Gln
NP_001394661.1:p.Leu300Gln
NP_001394662.1:p.Leu300Gln
NP_001394663.1:p.Leu300Gln
NP_001394664.1:p.Leu300Gln
NP_001394665.1:p.Leu300Gln
NP_001394666.1:p.Leu300Gln
NP_001394667.1:p.Leu300Gln
NP_001394668.1:p.Leu300Gln
NP_001394669.1:p.Leu299Gln
NP_001394670.1:p.Leu299Gln
NP_001394671.1:p.Leu299Gln
NP_001394672.1:p.Leu299Gln
NP_001394673.1:p.Leu299Gln
NP_001394674.1:p.Leu299Gln
NP_001394675.1:p.Leu299Gln
NP_001394676.1:p.Leu299Gln
NP_001394677.1:p.Leu299Gln
NP_001394678.1:p.Leu299Gln
NP_001394679.1:p.Leu300Gln
NP_001394680.1:p.Leu300Gln
NP_001394681.1:p.Leu300Gln
NP_001394767.1:p.Leu299Gln
NP_001394768.1:p.Leu299Gln
NP_001394770.1:p.Leu299Gln
NP_001394771.1:p.Leu299Gln
NP_001394772.1:p.Leu299Gln
NP_001394773.1:p.Leu299Gln
NP_001394774.1:p.Leu299Gln
NP_001394775.1:p.Leu299Gln
NP_001394776.1:p.Leu299Gln
NP_001394777.1:p.Leu299Gln
NP_001394778.1:p.Leu299Gln
NP_001394779.1:p.Leu300Gln
NP_001394780.1:p.Leu300Gln
NP_001394781.1:p.Leu300Gln
NP_001394782.1:p.Leu276Gln
NP_001394783.1:p.Leu347Gln
NP_001394787.1:p.Leu347Gln
NP_001394788.1:p.Leu347Gln
NP_001394789.1:p.Leu346Gln
NP_001394790.1:p.Leu346Gln
NP_001394791.1:p.Leu280Gln
NP_001394792.1:p.Leu306Gln
NP_001394803.1:p.Leu279Gln
NP_001394804.1:p.Leu279Gln
NP_001394808.1:p.Leu277Gln
NP_001394810.1:p.Leu277Gln
NP_001394811.1:p.Leu277Gln
NP_001394813.1:p.Leu277Gln
NP_001394814.1:p.Leu277Gln
NP_001394815.1:p.Leu277Gln
NP_001394816.1:p.Leu277Gln
NP_001394818.1:p.Leu277Gln
NP_001394823.1:p.Leu276Gln
NP_001394824.1:p.Leu276Gln
NP_001394825.1:p.Leu276Gln
NP_001394826.1:p.Leu276Gln
NP_001394827.1:p.Leu276Gln
NP_001394828.1:p.Leu276Gln
NP_001394829.1:p.Leu277Gln
NP_001394831.1:p.Leu277Gln
NP_001394833.1:p.Leu277Gln
NP_001394835.1:p.Leu277Gln
NP_001394836.1:p.Leu277Gln
NP_001394837.1:p.Leu277Gln
NP_001394838.1:p.Leu277Gln
NP_001394839.1:p.Leu277Gln
NP_001394844.1:p.Leu276Gln
NP_001394845.1:p.Leu276Gln
NP_001394846.1:p.Leu276Gln
NP_001394847.1:p.Leu276Gln
NP_001394848.1:p.Leu306Gln
NP_001394849.1:p.Leu259Gln
NP_001394850.1:p.Leu259Gln
NP_001394851.1:p.Leu259Gln
NP_001394852.1:p.Leu259Gln
NP_001394853.1:p.Leu259Gln
NP_001394854.1:p.Leu259Gln
NP_001394855.1:p.Leu259Gln
NP_001394856.1:p.Leu259Gln
NP_001394857.1:p.Leu259Gln
NP_001394858.1:p.Leu259Gln
NP_001394859.1:p.Leu258Gln
NP_001394860.1:p.Leu258Gln
NP_001394861.1:p.Leu258Gln
NP_001394862.1:p.Leu259Gln
NP_001394863.1:p.Leu258Gln
NP_001394864.1:p.Leu259Gln
NP_001394865.1:p.Leu258Gln
NP_001394866.1:p.Leu306Gln
NP_001394867.1:p.Leu306Gln
NP_001394868.1:p.Leu306Gln
NP_001394869.1:p.Leu305Gln
NP_001394870.1:p.Leu305Gln
NP_001394871.1:p.Leu300Gln
NP_001394872.1:p.Leu299Gln
NP_001394873.1:p.Leu300Gln
NP_001394874.1:p.Leu300Gln
NP_001394875.1:p.Leu236Gln
NP_001394876.1:p.Leu236Gln
NP_001394877.1:p.Leu236Gln
NP_001394878.1:p.Leu236Gln
NP_001394879.1:p.Leu236Gln
NP_001394880.1:p.Leu236Gln
NP_001394881.1:p.Leu236Gln
NP_001394882.1:p.Leu236Gln
NP_001394883.1:p.Leu235Gln
NP_001394884.1:p.Leu235Gln
NP_001394885.1:p.Leu235Gln
NP_001394886.1:p.Leu236Gln
NP_001394887.1:p.Leu235Gln
NP_001394888.1:p.Leu220Gln
NP_001394889.1:p.Leu220Gln
NP_001394891.1:p.Leu219Gln
NP_001394892.1:p.Leu220Gln
NP_001394893.1:p.Leu299Gln
NP_001394894.1:p.Leu179Gln
NP_001394895.1:p.Leu51Gln
NP_001394896.1:p.Leu51Gln
NP_009225.1:p.Leu347Gln
NP_009225.1:p.Leu347Gln
NP_009228.2:p.Leu300Gln
NP_009231.2:p.Leu347Gln
LRG_292t1:c.1040T>A
LRG_292:g.123493T>A
LRG_292p1:p.Leu347Gln
NC_000017.10:g.41246508A>T
NM_007294.3:c.1040T>A
NR_027676.1:n.1176T>A

Protein change:

L179Q

Links:

dbSNP: rs757987511

NCBI 1000 Genomes Browser:

rs757987511

Molecular consequence:

NM_001407968.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+250T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3459T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3459T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1355T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3459T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+253T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1031T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1031T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.959T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.962T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1037T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.839T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.836T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.836T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.830T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.827T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.773T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.917T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.914T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.707T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.704T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.656T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.659T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.896T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.536T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.152T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1040T>A - missense variant - [Sequence Ontology: SO:0001583]

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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RELA RELA proto-oncogene, NF-kB subunit [Homo sapiens]
RELA RELA proto-oncogene, NF-kB subunit [Homo sapiens]
Gene ID:5970

Gene
Gene Links for GEO Profiles (Select 12580911) (1)
Gene
Profile neighbors for GEO Profiles (Select 12586127) (199)
GEO Profiles
Yarrowia lipolytica strain CM52869P internal transcribed spacer 1, partial seque...
Yarrowia lipolytica strain CM52869P internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1862629383|gb|MT671351.1|

Nucleotide
Pythium myriotylum isolate OJ6-11-403-2 cytochrome oxidase subunit 1 (COI) gene,...
Pythium myriotylum isolate OJ6-11-403-2 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|560069148|gb|KF761150.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001375781	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 30, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21520333, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001375781

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 30, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PubMed [citation]

PMID:: 21520333

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001375781.1

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

Description

This sequence change replaces leucine with glutamine at codon 347 of the BRCA1 protein (p.Leu347Gln). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is present in population databases (rs757987511, ExAC 0.01%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 441364). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine