NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (4 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000111502.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)]

NM_007294.4(BRCA1):c.891G>A (p.Met297Ile)

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.891G>A (p.Met297Ile)

Other names:

p.M297I:ATG>ATA; 1010G>A

HGVS:

NC_000017.11:g.43094640C>T
NG_005905.2:g.123344G>A
NM_001407571.1:c.678G>A
NM_001407581.1:c.891G>A
NM_001407582.1:c.891G>A
NM_001407583.1:c.891G>A
NM_001407585.1:c.891G>A
NM_001407587.1:c.888G>A
NM_001407590.1:c.888G>A
NM_001407591.1:c.888G>A
NM_001407593.1:c.891G>A
NM_001407594.1:c.891G>A
NM_001407596.1:c.891G>A
NM_001407597.1:c.891G>A
NM_001407598.1:c.891G>A
NM_001407602.1:c.891G>A
NM_001407603.1:c.891G>A
NM_001407605.1:c.891G>A
NM_001407610.1:c.888G>A
NM_001407611.1:c.888G>A
NM_001407612.1:c.888G>A
NM_001407613.1:c.888G>A
NM_001407614.1:c.888G>A
NM_001407615.1:c.888G>A
NM_001407616.1:c.891G>A
NM_001407617.1:c.891G>A
NM_001407618.1:c.891G>A
NM_001407619.1:c.891G>A
NM_001407620.1:c.891G>A
NM_001407621.1:c.891G>A
NM_001407622.1:c.891G>A
NM_001407623.1:c.891G>A
NM_001407624.1:c.891G>A
NM_001407625.1:c.891G>A
NM_001407626.1:c.891G>A
NM_001407627.1:c.888G>A
NM_001407628.1:c.888G>A
NM_001407629.1:c.888G>A
NM_001407630.1:c.888G>A
NM_001407631.1:c.888G>A
NM_001407632.1:c.888G>A
NM_001407633.1:c.888G>A
NM_001407634.1:c.888G>A
NM_001407635.1:c.888G>A
NM_001407636.1:c.888G>A
NM_001407637.1:c.888G>A
NM_001407638.1:c.888G>A
NM_001407639.1:c.891G>A
NM_001407640.1:c.891G>A
NM_001407641.1:c.891G>A
NM_001407642.1:c.891G>A
NM_001407644.1:c.888G>A
NM_001407645.1:c.888G>A
NM_001407646.1:c.882G>A
NM_001407647.1:c.882G>A
NM_001407648.1:c.768G>A
NM_001407649.1:c.765G>A
NM_001407652.1:c.891G>A
NM_001407653.1:c.813G>A
NM_001407654.1:c.813G>A
NM_001407655.1:c.813G>A
NM_001407656.1:c.813G>A
NM_001407657.1:c.813G>A
NM_001407658.1:c.813G>A
NM_001407659.1:c.810G>A
NM_001407660.1:c.810G>A
NM_001407661.1:c.810G>A
NM_001407662.1:c.810G>A
NM_001407663.1:c.813G>A
NM_001407664.1:c.768G>A
NM_001407665.1:c.768G>A
NM_001407666.1:c.768G>A
NM_001407667.1:c.768G>A
NM_001407668.1:c.768G>A
NM_001407669.1:c.768G>A
NM_001407670.1:c.765G>A
NM_001407671.1:c.765G>A
NM_001407672.1:c.765G>A
NM_001407673.1:c.765G>A
NM_001407674.1:c.768G>A
NM_001407675.1:c.768G>A
NM_001407676.1:c.768G>A
NM_001407677.1:c.768G>A
NM_001407678.1:c.768G>A
NM_001407679.1:c.768G>A
NM_001407680.1:c.768G>A
NM_001407681.1:c.768G>A
NM_001407682.1:c.768G>A
NM_001407683.1:c.768G>A
NM_001407684.1:c.891G>A
NM_001407685.1:c.765G>A
NM_001407686.1:c.765G>A
NM_001407687.1:c.765G>A
NM_001407688.1:c.765G>A
NM_001407689.1:c.765G>A
NM_001407690.1:c.765G>A
NM_001407691.1:c.765G>A
NM_001407692.1:c.750G>A
NM_001407694.1:c.750G>A
NM_001407695.1:c.750G>A
NM_001407696.1:c.750G>A
NM_001407697.1:c.750G>A
NM_001407698.1:c.750G>A
NM_001407724.1:c.750G>A
NM_001407725.1:c.750G>A
NM_001407726.1:c.750G>A
NM_001407727.1:c.750G>A
NM_001407728.1:c.750G>A
NM_001407729.1:c.750G>A
NM_001407730.1:c.750G>A
NM_001407731.1:c.750G>A
NM_001407732.1:c.750G>A
NM_001407733.1:c.750G>A
NM_001407734.1:c.750G>A
NM_001407735.1:c.750G>A
NM_001407736.1:c.750G>A
NM_001407737.1:c.750G>A
NM_001407738.1:c.750G>A
NM_001407739.1:c.750G>A
NM_001407740.1:c.747G>A
NM_001407741.1:c.747G>A
NM_001407742.1:c.747G>A
NM_001407743.1:c.747G>A
NM_001407744.1:c.747G>A
NM_001407745.1:c.747G>A
NM_001407746.1:c.747G>A
NM_001407747.1:c.747G>A
NM_001407748.1:c.747G>A
NM_001407749.1:c.747G>A
NM_001407750.1:c.750G>A
NM_001407751.1:c.750G>A
NM_001407752.1:c.750G>A
NM_001407838.1:c.747G>A
NM_001407839.1:c.747G>A
NM_001407841.1:c.747G>A
NM_001407842.1:c.747G>A
NM_001407843.1:c.747G>A
NM_001407844.1:c.747G>A
NM_001407845.1:c.747G>A
NM_001407846.1:c.747G>A
NM_001407847.1:c.747G>A
NM_001407848.1:c.747G>A
NM_001407849.1:c.747G>A
NM_001407850.1:c.750G>A
NM_001407851.1:c.750G>A
NM_001407852.1:c.750G>A
NM_001407853.1:c.678G>A
NM_001407854.1:c.891G>A
NM_001407858.1:c.891G>A
NM_001407859.1:c.891G>A
NM_001407860.1:c.888G>A
NM_001407861.1:c.888G>A
NM_001407862.1:c.690G>A
NM_001407863.1:c.768G>A
NM_001407874.1:c.687G>A
NM_001407875.1:c.687G>A
NM_001407879.1:c.681G>A
NM_001407881.1:c.681G>A
NM_001407882.1:c.681G>A
NM_001407884.1:c.681G>A
NM_001407885.1:c.681G>A
NM_001407886.1:c.681G>A
NM_001407887.1:c.681G>A
NM_001407889.1:c.681G>A
NM_001407894.1:c.678G>A
NM_001407895.1:c.678G>A
NM_001407896.1:c.678G>A
NM_001407897.1:c.678G>A
NM_001407898.1:c.678G>A
NM_001407899.1:c.678G>A
NM_001407900.1:c.681G>A
NM_001407902.1:c.681G>A
NM_001407904.1:c.681G>A
NM_001407906.1:c.681G>A
NM_001407907.1:c.681G>A
NM_001407908.1:c.681G>A
NM_001407909.1:c.681G>A
NM_001407910.1:c.681G>A
NM_001407915.1:c.678G>A
NM_001407916.1:c.678G>A
NM_001407917.1:c.678G>A
NM_001407918.1:c.678G>A
NM_001407919.1:c.768G>A
NM_001407920.1:c.627G>A
NM_001407921.1:c.627G>A
NM_001407922.1:c.627G>A
NM_001407923.1:c.627G>A
NM_001407924.1:c.627G>A
NM_001407925.1:c.627G>A
NM_001407926.1:c.627G>A
NM_001407927.1:c.627G>A
NM_001407928.1:c.627G>A
NM_001407929.1:c.627G>A
NM_001407930.1:c.624G>A
NM_001407931.1:c.624G>A
NM_001407932.1:c.624G>A
NM_001407933.1:c.627G>A
NM_001407934.1:c.624G>A
NM_001407935.1:c.627G>A
NM_001407936.1:c.624G>A
NM_001407937.1:c.768G>A
NM_001407938.1:c.768G>A
NM_001407939.1:c.768G>A
NM_001407940.1:c.765G>A
NM_001407941.1:c.765G>A
NM_001407942.1:c.750G>A
NM_001407943.1:c.747G>A
NM_001407944.1:c.750G>A
NM_001407945.1:c.750G>A
NM_001407946.1:c.558G>A
NM_001407947.1:c.558G>A
NM_001407948.1:c.558G>A
NM_001407949.1:c.558G>A
NM_001407950.1:c.558G>A
NM_001407951.1:c.558G>A
NM_001407952.1:c.558G>A
NM_001407953.1:c.558G>A
NM_001407954.1:c.555G>A
NM_001407955.1:c.555G>A
NM_001407956.1:c.555G>A
NM_001407957.1:c.558G>A
NM_001407958.1:c.555G>A
NM_001407959.1:c.510G>A
NM_001407960.1:c.510G>A
NM_001407962.1:c.507G>A
NM_001407963.1:c.510G>A
NM_001407964.1:c.747G>A
NM_001407965.1:c.387G>A
NM_001407966.1:c.3G>A
NM_001407967.1:c.3G>A
NM_001407968.1:c.787+104G>A
NM_001407969.1:c.787+104G>A
NM_001407970.1:c.787+104G>A
NM_001407971.1:c.787+104G>A
NM_001407972.1:c.784+104G>A
NM_001407973.1:c.787+104G>A
NM_001407974.1:c.787+104G>A
NM_001407975.1:c.787+104G>A
NM_001407976.1:c.787+104G>A
NM_001407977.1:c.787+104G>A
NM_001407978.1:c.787+104G>A
NM_001407979.1:c.787+104G>A
NM_001407980.1:c.787+104G>A
NM_001407981.1:c.787+104G>A
NM_001407982.1:c.787+104G>A
NM_001407983.1:c.787+104G>A
NM_001407984.1:c.784+104G>A
NM_001407985.1:c.784+104G>A
NM_001407986.1:c.784+104G>A
NM_001407990.1:c.787+104G>A
NM_001407991.1:c.784+104G>A
NM_001407992.1:c.784+104G>A
NM_001407993.1:c.787+104G>A
NM_001408392.1:c.784+104G>A
NM_001408396.1:c.784+104G>A
NM_001408397.1:c.784+104G>A
NM_001408398.1:c.784+104G>A
NM_001408399.1:c.784+104G>A
NM_001408400.1:c.784+104G>A
NM_001408401.1:c.784+104G>A
NM_001408402.1:c.784+104G>A
NM_001408403.1:c.787+104G>A
NM_001408404.1:c.787+104G>A
NM_001408406.1:c.790+101G>A
NM_001408407.1:c.784+104G>A
NM_001408408.1:c.778+104G>A
NM_001408409.1:c.709+104G>A
NM_001408410.1:c.646+104G>A
NM_001408411.1:c.709+104G>A
NM_001408412.1:c.709+104G>A
NM_001408413.1:c.706+104G>A
NM_001408414.1:c.709+104G>A
NM_001408415.1:c.709+104G>A
NM_001408416.1:c.706+104G>A
NM_001408418.1:c.670+1206G>A
NM_001408419.1:c.670+1206G>A
NM_001408420.1:c.670+1206G>A
NM_001408421.1:c.667+1206G>A
NM_001408422.1:c.670+1206G>A
NM_001408423.1:c.670+1206G>A
NM_001408424.1:c.667+1206G>A
NM_001408425.1:c.664+104G>A
NM_001408426.1:c.664+104G>A
NM_001408427.1:c.664+104G>A
NM_001408428.1:c.664+104G>A
NM_001408429.1:c.664+104G>A
NM_001408430.1:c.664+104G>A
NM_001408431.1:c.667+1206G>A
NM_001408432.1:c.661+104G>A
NM_001408433.1:c.661+104G>A
NM_001408434.1:c.661+104G>A
NM_001408435.1:c.661+104G>A
NM_001408436.1:c.664+104G>A
NM_001408437.1:c.664+104G>A
NM_001408438.1:c.664+104G>A
NM_001408439.1:c.664+104G>A
NM_001408440.1:c.664+104G>A
NM_001408441.1:c.664+104G>A
NM_001408442.1:c.664+104G>A
NM_001408443.1:c.664+104G>A
NM_001408444.1:c.664+104G>A
NM_001408445.1:c.661+104G>A
NM_001408446.1:c.661+104G>A
NM_001408447.1:c.661+104G>A
NM_001408448.1:c.661+104G>A
NM_001408450.1:c.661+104G>A
NM_001408451.1:c.652+104G>A
NM_001408452.1:c.646+104G>A
NM_001408453.1:c.646+104G>A
NM_001408454.1:c.646+104G>A
NM_001408455.1:c.646+104G>A
NM_001408456.1:c.646+104G>A
NM_001408457.1:c.646+104G>A
NM_001408458.1:c.646+104G>A
NM_001408459.1:c.646+104G>A
NM_001408460.1:c.646+104G>A
NM_001408461.1:c.646+104G>A
NM_001408462.1:c.643+104G>A
NM_001408463.1:c.643+104G>A
NM_001408464.1:c.643+104G>A
NM_001408465.1:c.643+104G>A
NM_001408466.1:c.646+104G>A
NM_001408467.1:c.646+104G>A
NM_001408468.1:c.643+104G>A
NM_001408469.1:c.646+104G>A
NM_001408470.1:c.643+104G>A
NM_001408472.1:c.787+104G>A
NM_001408473.1:c.784+104G>A
NM_001408474.1:c.586+104G>A
NM_001408475.1:c.583+104G>A
NM_001408476.1:c.586+104G>A
NM_001408478.1:c.577+104G>A
NM_001408479.1:c.577+104G>A
NM_001408480.1:c.577+104G>A
NM_001408481.1:c.577+104G>A
NM_001408482.1:c.577+104G>A
NM_001408483.1:c.577+104G>A
NM_001408484.1:c.577+104G>A
NM_001408485.1:c.577+104G>A
NM_001408489.1:c.577+104G>A
NM_001408490.1:c.574+104G>A
NM_001408491.1:c.574+104G>A
NM_001408492.1:c.577+104G>A
NM_001408493.1:c.574+104G>A
NM_001408494.1:c.548-3608G>A
NM_001408495.1:c.545-3608G>A
NM_001408496.1:c.523+104G>A
NM_001408497.1:c.523+104G>A
NM_001408498.1:c.523+104G>A
NM_001408499.1:c.523+104G>A
NM_001408500.1:c.523+104G>A
NM_001408501.1:c.523+104G>A
NM_001408502.1:c.454+104G>A
NM_001408503.1:c.520+104G>A
NM_001408504.1:c.520+104G>A
NM_001408505.1:c.520+104G>A
NM_001408506.1:c.460+1206G>A
NM_001408507.1:c.460+1206G>A
NM_001408508.1:c.451+104G>A
NM_001408509.1:c.451+104G>A
NM_001408510.1:c.406+104G>A
NM_001408511.1:c.404-3608G>A
NM_001408512.1:c.283+104G>A
NM_001408513.1:c.577+104G>A
NM_001408514.1:c.577+104G>A
NM_007294.4:c.891G>AMANE SELECT
NM_007297.4:c.750G>A
NM_007298.4:c.787+104G>A
NM_007299.4:c.787+104G>A
NM_007300.4:c.891G>A
NP_001394500.1:p.Met226Ile
NP_001394510.1:p.Met297Ile
NP_001394511.1:p.Met297Ile
NP_001394512.1:p.Met297Ile
NP_001394514.1:p.Met297Ile
NP_001394516.1:p.Met296Ile
NP_001394519.1:p.Met296Ile
NP_001394520.1:p.Met296Ile
NP_001394522.1:p.Met297Ile
NP_001394523.1:p.Met297Ile
NP_001394525.1:p.Met297Ile
NP_001394526.1:p.Met297Ile
NP_001394527.1:p.Met297Ile
NP_001394531.1:p.Met297Ile
NP_001394532.1:p.Met297Ile
NP_001394534.1:p.Met297Ile
NP_001394539.1:p.Met296Ile
NP_001394540.1:p.Met296Ile
NP_001394541.1:p.Met296Ile
NP_001394542.1:p.Met296Ile
NP_001394543.1:p.Met296Ile
NP_001394544.1:p.Met296Ile
NP_001394545.1:p.Met297Ile
NP_001394546.1:p.Met297Ile
NP_001394547.1:p.Met297Ile
NP_001394548.1:p.Met297Ile
NP_001394549.1:p.Met297Ile
NP_001394550.1:p.Met297Ile
NP_001394551.1:p.Met297Ile
NP_001394552.1:p.Met297Ile
NP_001394553.1:p.Met297Ile
NP_001394554.1:p.Met297Ile
NP_001394555.1:p.Met297Ile
NP_001394556.1:p.Met296Ile
NP_001394557.1:p.Met296Ile
NP_001394558.1:p.Met296Ile
NP_001394559.1:p.Met296Ile
NP_001394560.1:p.Met296Ile
NP_001394561.1:p.Met296Ile
NP_001394562.1:p.Met296Ile
NP_001394563.1:p.Met296Ile
NP_001394564.1:p.Met296Ile
NP_001394565.1:p.Met296Ile
NP_001394566.1:p.Met296Ile
NP_001394567.1:p.Met296Ile
NP_001394568.1:p.Met297Ile
NP_001394569.1:p.Met297Ile
NP_001394570.1:p.Met297Ile
NP_001394571.1:p.Met297Ile
NP_001394573.1:p.Met296Ile
NP_001394574.1:p.Met296Ile
NP_001394575.1:p.Met294Ile
NP_001394576.1:p.Met294Ile
NP_001394577.1:p.Met256Ile
NP_001394578.1:p.Met255Ile
NP_001394581.1:p.Met297Ile
NP_001394582.1:p.Met271Ile
NP_001394583.1:p.Met271Ile
NP_001394584.1:p.Met271Ile
NP_001394585.1:p.Met271Ile
NP_001394586.1:p.Met271Ile
NP_001394587.1:p.Met271Ile
NP_001394588.1:p.Met270Ile
NP_001394589.1:p.Met270Ile
NP_001394590.1:p.Met270Ile
NP_001394591.1:p.Met270Ile
NP_001394592.1:p.Met271Ile
NP_001394593.1:p.Met256Ile
NP_001394594.1:p.Met256Ile
NP_001394595.1:p.Met256Ile
NP_001394596.1:p.Met256Ile
NP_001394597.1:p.Met256Ile
NP_001394598.1:p.Met256Ile
NP_001394599.1:p.Met255Ile
NP_001394600.1:p.Met255Ile
NP_001394601.1:p.Met255Ile
NP_001394602.1:p.Met255Ile
NP_001394603.1:p.Met256Ile
NP_001394604.1:p.Met256Ile
NP_001394605.1:p.Met256Ile
NP_001394606.1:p.Met256Ile
NP_001394607.1:p.Met256Ile
NP_001394608.1:p.Met256Ile
NP_001394609.1:p.Met256Ile
NP_001394610.1:p.Met256Ile
NP_001394611.1:p.Met256Ile
NP_001394612.1:p.Met256Ile
NP_001394613.1:p.Met297Ile
NP_001394614.1:p.Met255Ile
NP_001394615.1:p.Met255Ile
NP_001394616.1:p.Met255Ile
NP_001394617.1:p.Met255Ile
NP_001394618.1:p.Met255Ile
NP_001394619.1:p.Met255Ile
NP_001394620.1:p.Met255Ile
NP_001394621.1:p.Met250Ile
NP_001394623.1:p.Met250Ile
NP_001394624.1:p.Met250Ile
NP_001394625.1:p.Met250Ile
NP_001394626.1:p.Met250Ile
NP_001394627.1:p.Met250Ile
NP_001394653.1:p.Met250Ile
NP_001394654.1:p.Met250Ile
NP_001394655.1:p.Met250Ile
NP_001394656.1:p.Met250Ile
NP_001394657.1:p.Met250Ile
NP_001394658.1:p.Met250Ile
NP_001394659.1:p.Met250Ile
NP_001394660.1:p.Met250Ile
NP_001394661.1:p.Met250Ile
NP_001394662.1:p.Met250Ile
NP_001394663.1:p.Met250Ile
NP_001394664.1:p.Met250Ile
NP_001394665.1:p.Met250Ile
NP_001394666.1:p.Met250Ile
NP_001394667.1:p.Met250Ile
NP_001394668.1:p.Met250Ile
NP_001394669.1:p.Met249Ile
NP_001394670.1:p.Met249Ile
NP_001394671.1:p.Met249Ile
NP_001394672.1:p.Met249Ile
NP_001394673.1:p.Met249Ile
NP_001394674.1:p.Met249Ile
NP_001394675.1:p.Met249Ile
NP_001394676.1:p.Met249Ile
NP_001394677.1:p.Met249Ile
NP_001394678.1:p.Met249Ile
NP_001394679.1:p.Met250Ile
NP_001394680.1:p.Met250Ile
NP_001394681.1:p.Met250Ile
NP_001394767.1:p.Met249Ile
NP_001394768.1:p.Met249Ile
NP_001394770.1:p.Met249Ile
NP_001394771.1:p.Met249Ile
NP_001394772.1:p.Met249Ile
NP_001394773.1:p.Met249Ile
NP_001394774.1:p.Met249Ile
NP_001394775.1:p.Met249Ile
NP_001394776.1:p.Met249Ile
NP_001394777.1:p.Met249Ile
NP_001394778.1:p.Met249Ile
NP_001394779.1:p.Met250Ile
NP_001394780.1:p.Met250Ile
NP_001394781.1:p.Met250Ile
NP_001394782.1:p.Met226Ile
NP_001394783.1:p.Met297Ile
NP_001394787.1:p.Met297Ile
NP_001394788.1:p.Met297Ile
NP_001394789.1:p.Met296Ile
NP_001394790.1:p.Met296Ile
NP_001394791.1:p.Met230Ile
NP_001394792.1:p.Met256Ile
NP_001394803.1:p.Met229Ile
NP_001394804.1:p.Met229Ile
NP_001394808.1:p.Met227Ile
NP_001394810.1:p.Met227Ile
NP_001394811.1:p.Met227Ile
NP_001394813.1:p.Met227Ile
NP_001394814.1:p.Met227Ile
NP_001394815.1:p.Met227Ile
NP_001394816.1:p.Met227Ile
NP_001394818.1:p.Met227Ile
NP_001394823.1:p.Met226Ile
NP_001394824.1:p.Met226Ile
NP_001394825.1:p.Met226Ile
NP_001394826.1:p.Met226Ile
NP_001394827.1:p.Met226Ile
NP_001394828.1:p.Met226Ile
NP_001394829.1:p.Met227Ile
NP_001394831.1:p.Met227Ile
NP_001394833.1:p.Met227Ile
NP_001394835.1:p.Met227Ile
NP_001394836.1:p.Met227Ile
NP_001394837.1:p.Met227Ile
NP_001394838.1:p.Met227Ile
NP_001394839.1:p.Met227Ile
NP_001394844.1:p.Met226Ile
NP_001394845.1:p.Met226Ile
NP_001394846.1:p.Met226Ile
NP_001394847.1:p.Met226Ile
NP_001394848.1:p.Met256Ile
NP_001394849.1:p.Met209Ile
NP_001394850.1:p.Met209Ile
NP_001394851.1:p.Met209Ile
NP_001394852.1:p.Met209Ile
NP_001394853.1:p.Met209Ile
NP_001394854.1:p.Met209Ile
NP_001394855.1:p.Met209Ile
NP_001394856.1:p.Met209Ile
NP_001394857.1:p.Met209Ile
NP_001394858.1:p.Met209Ile
NP_001394859.1:p.Met208Ile
NP_001394860.1:p.Met208Ile
NP_001394861.1:p.Met208Ile
NP_001394862.1:p.Met209Ile
NP_001394863.1:p.Met208Ile
NP_001394864.1:p.Met209Ile
NP_001394865.1:p.Met208Ile
NP_001394866.1:p.Met256Ile
NP_001394867.1:p.Met256Ile
NP_001394868.1:p.Met256Ile
NP_001394869.1:p.Met255Ile
NP_001394870.1:p.Met255Ile
NP_001394871.1:p.Met250Ile
NP_001394872.1:p.Met249Ile
NP_001394873.1:p.Met250Ile
NP_001394874.1:p.Met250Ile
NP_001394875.1:p.Met186Ile
NP_001394876.1:p.Met186Ile
NP_001394877.1:p.Met186Ile
NP_001394878.1:p.Met186Ile
NP_001394879.1:p.Met186Ile
NP_001394880.1:p.Met186Ile
NP_001394881.1:p.Met186Ile
NP_001394882.1:p.Met186Ile
NP_001394883.1:p.Met185Ile
NP_001394884.1:p.Met185Ile
NP_001394885.1:p.Met185Ile
NP_001394886.1:p.Met186Ile
NP_001394887.1:p.Met185Ile
NP_001394888.1:p.Met170Ile
NP_001394889.1:p.Met170Ile
NP_001394891.1:p.Met169Ile
NP_001394892.1:p.Met170Ile
NP_001394893.1:p.Met249Ile
NP_001394894.1:p.Met129Ile
NP_001394895.1:p.Met1Ile
NP_001394896.1:p.Met1Ile
NP_009225.1:p.Met297Ile
NP_009225.1:p.Met297Ile
NP_009228.2:p.Met250Ile
NP_009231.2:p.Met297Ile
LRG_292t1:c.891G>A
LRG_292:g.123344G>A
LRG_292p1:p.Met297Ile
NC_000017.10:g.41246657C>T
NM_007294.3:c.891G>A
NR_027676.1:n.1027G>A
U14680.1:n.1010G>A
p.M297I

Protein change:

M129I

Links:

BRCA1-HCI: BRCA1_00118; dbSNP: rs80357103

NCBI 1000 Genomes Browser:

rs80357103

Molecular consequence:

NM_001407966.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407967.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001407968.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+101G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3608G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3608G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1206G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3608G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+104G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.882G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.882G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.813G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.888G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.690G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.687G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.681G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.678G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.768G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.765G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.747G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.387G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.750G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.891G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000143944	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Feb 20, 2004)	germline	clinical testing
SCV000220510	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Jul 15, 2014)	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 16267036, 17924331, 15235020 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000244414	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV004818398	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	108544	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
African	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]

PMID:: 17924331
PMCID:: PMC2265654

See all PubMed Citations (5)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000143944.2

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

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

From Counsyl, SCV000220510.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244414.2

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000634

#	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 All of Us Research Program, National Institutes of Health, SCV004818398.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	108544	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine