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NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
May 3, 2018
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:
RCV000111492.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)]

NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)

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.889A>C (p.Met297Leu)
HGVS:
  • NC_000017.11:g.43094642T>G
  • NG_005905.2:g.123342A>C
  • NM_001407571.1:c.676A>C
  • NM_001407581.1:c.889A>C
  • NM_001407582.1:c.889A>C
  • NM_001407583.1:c.889A>C
  • NM_001407585.1:c.889A>C
  • NM_001407587.1:c.886A>C
  • NM_001407590.1:c.886A>C
  • NM_001407591.1:c.886A>C
  • NM_001407593.1:c.889A>C
  • NM_001407594.1:c.889A>C
  • NM_001407596.1:c.889A>C
  • NM_001407597.1:c.889A>C
  • NM_001407598.1:c.889A>C
  • NM_001407602.1:c.889A>C
  • NM_001407603.1:c.889A>C
  • NM_001407605.1:c.889A>C
  • NM_001407610.1:c.886A>C
  • NM_001407611.1:c.886A>C
  • NM_001407612.1:c.886A>C
  • NM_001407613.1:c.886A>C
  • NM_001407614.1:c.886A>C
  • NM_001407615.1:c.886A>C
  • NM_001407616.1:c.889A>C
  • NM_001407617.1:c.889A>C
  • NM_001407618.1:c.889A>C
  • NM_001407619.1:c.889A>C
  • NM_001407620.1:c.889A>C
  • NM_001407621.1:c.889A>C
  • NM_001407622.1:c.889A>C
  • NM_001407623.1:c.889A>C
  • NM_001407624.1:c.889A>C
  • NM_001407625.1:c.889A>C
  • NM_001407626.1:c.889A>C
  • NM_001407627.1:c.886A>C
  • NM_001407628.1:c.886A>C
  • NM_001407629.1:c.886A>C
  • NM_001407630.1:c.886A>C
  • NM_001407631.1:c.886A>C
  • NM_001407632.1:c.886A>C
  • NM_001407633.1:c.886A>C
  • NM_001407634.1:c.886A>C
  • NM_001407635.1:c.886A>C
  • NM_001407636.1:c.886A>C
  • NM_001407637.1:c.886A>C
  • NM_001407638.1:c.886A>C
  • NM_001407639.1:c.889A>C
  • NM_001407640.1:c.889A>C
  • NM_001407641.1:c.889A>C
  • NM_001407642.1:c.889A>C
  • NM_001407644.1:c.886A>C
  • NM_001407645.1:c.886A>C
  • NM_001407646.1:c.880A>C
  • NM_001407647.1:c.880A>C
  • NM_001407648.1:c.766A>C
  • NM_001407649.1:c.763A>C
  • NM_001407652.1:c.889A>C
  • NM_001407653.1:c.811A>C
  • NM_001407654.1:c.811A>C
  • NM_001407655.1:c.811A>C
  • NM_001407656.1:c.811A>C
  • NM_001407657.1:c.811A>C
  • NM_001407658.1:c.811A>C
  • NM_001407659.1:c.808A>C
  • NM_001407660.1:c.808A>C
  • NM_001407661.1:c.808A>C
  • NM_001407662.1:c.808A>C
  • NM_001407663.1:c.811A>C
  • NM_001407664.1:c.766A>C
  • NM_001407665.1:c.766A>C
  • NM_001407666.1:c.766A>C
  • NM_001407667.1:c.766A>C
  • NM_001407668.1:c.766A>C
  • NM_001407669.1:c.766A>C
  • NM_001407670.1:c.763A>C
  • NM_001407671.1:c.763A>C
  • NM_001407672.1:c.763A>C
  • NM_001407673.1:c.763A>C
  • NM_001407674.1:c.766A>C
  • NM_001407675.1:c.766A>C
  • NM_001407676.1:c.766A>C
  • NM_001407677.1:c.766A>C
  • NM_001407678.1:c.766A>C
  • NM_001407679.1:c.766A>C
  • NM_001407680.1:c.766A>C
  • NM_001407681.1:c.766A>C
  • NM_001407682.1:c.766A>C
  • NM_001407683.1:c.766A>C
  • NM_001407684.1:c.889A>C
  • NM_001407685.1:c.763A>C
  • NM_001407686.1:c.763A>C
  • NM_001407687.1:c.763A>C
  • NM_001407688.1:c.763A>C
  • NM_001407689.1:c.763A>C
  • NM_001407690.1:c.763A>C
  • NM_001407691.1:c.763A>C
  • NM_001407692.1:c.748A>C
  • NM_001407694.1:c.748A>C
  • NM_001407695.1:c.748A>C
  • NM_001407696.1:c.748A>C
  • NM_001407697.1:c.748A>C
  • NM_001407698.1:c.748A>C
  • NM_001407724.1:c.748A>C
  • NM_001407725.1:c.748A>C
  • NM_001407726.1:c.748A>C
  • NM_001407727.1:c.748A>C
  • NM_001407728.1:c.748A>C
  • NM_001407729.1:c.748A>C
  • NM_001407730.1:c.748A>C
  • NM_001407731.1:c.748A>C
  • NM_001407732.1:c.748A>C
  • NM_001407733.1:c.748A>C
  • NM_001407734.1:c.748A>C
  • NM_001407735.1:c.748A>C
  • NM_001407736.1:c.748A>C
  • NM_001407737.1:c.748A>C
  • NM_001407738.1:c.748A>C
  • NM_001407739.1:c.748A>C
  • NM_001407740.1:c.745A>C
  • NM_001407741.1:c.745A>C
  • NM_001407742.1:c.745A>C
  • NM_001407743.1:c.745A>C
  • NM_001407744.1:c.745A>C
  • NM_001407745.1:c.745A>C
  • NM_001407746.1:c.745A>C
  • NM_001407747.1:c.745A>C
  • NM_001407748.1:c.745A>C
  • NM_001407749.1:c.745A>C
  • NM_001407750.1:c.748A>C
  • NM_001407751.1:c.748A>C
  • NM_001407752.1:c.748A>C
  • NM_001407838.1:c.745A>C
  • NM_001407839.1:c.745A>C
  • NM_001407841.1:c.745A>C
  • NM_001407842.1:c.745A>C
  • NM_001407843.1:c.745A>C
  • NM_001407844.1:c.745A>C
  • NM_001407845.1:c.745A>C
  • NM_001407846.1:c.745A>C
  • NM_001407847.1:c.745A>C
  • NM_001407848.1:c.745A>C
  • NM_001407849.1:c.745A>C
  • NM_001407850.1:c.748A>C
  • NM_001407851.1:c.748A>C
  • NM_001407852.1:c.748A>C
  • NM_001407853.1:c.676A>C
  • NM_001407854.1:c.889A>C
  • NM_001407858.1:c.889A>C
  • NM_001407859.1:c.889A>C
  • NM_001407860.1:c.886A>C
  • NM_001407861.1:c.886A>C
  • NM_001407862.1:c.688A>C
  • NM_001407863.1:c.766A>C
  • NM_001407874.1:c.685A>C
  • NM_001407875.1:c.685A>C
  • NM_001407879.1:c.679A>C
  • NM_001407881.1:c.679A>C
  • NM_001407882.1:c.679A>C
  • NM_001407884.1:c.679A>C
  • NM_001407885.1:c.679A>C
  • NM_001407886.1:c.679A>C
  • NM_001407887.1:c.679A>C
  • NM_001407889.1:c.679A>C
  • NM_001407894.1:c.676A>C
  • NM_001407895.1:c.676A>C
  • NM_001407896.1:c.676A>C
  • NM_001407897.1:c.676A>C
  • NM_001407898.1:c.676A>C
  • NM_001407899.1:c.676A>C
  • NM_001407900.1:c.679A>C
  • NM_001407902.1:c.679A>C
  • NM_001407904.1:c.679A>C
  • NM_001407906.1:c.679A>C
  • NM_001407907.1:c.679A>C
  • NM_001407908.1:c.679A>C
  • NM_001407909.1:c.679A>C
  • NM_001407910.1:c.679A>C
  • NM_001407915.1:c.676A>C
  • NM_001407916.1:c.676A>C
  • NM_001407917.1:c.676A>C
  • NM_001407918.1:c.676A>C
  • NM_001407919.1:c.766A>C
  • NM_001407920.1:c.625A>C
  • NM_001407921.1:c.625A>C
  • NM_001407922.1:c.625A>C
  • NM_001407923.1:c.625A>C
  • NM_001407924.1:c.625A>C
  • NM_001407925.1:c.625A>C
  • NM_001407926.1:c.625A>C
  • NM_001407927.1:c.625A>C
  • NM_001407928.1:c.625A>C
  • NM_001407929.1:c.625A>C
  • NM_001407930.1:c.622A>C
  • NM_001407931.1:c.622A>C
  • NM_001407932.1:c.622A>C
  • NM_001407933.1:c.625A>C
  • NM_001407934.1:c.622A>C
  • NM_001407935.1:c.625A>C
  • NM_001407936.1:c.622A>C
  • NM_001407937.1:c.766A>C
  • NM_001407938.1:c.766A>C
  • NM_001407939.1:c.766A>C
  • NM_001407940.1:c.763A>C
  • NM_001407941.1:c.763A>C
  • NM_001407942.1:c.748A>C
  • NM_001407943.1:c.745A>C
  • NM_001407944.1:c.748A>C
  • NM_001407945.1:c.748A>C
  • NM_001407946.1:c.556A>C
  • NM_001407947.1:c.556A>C
  • NM_001407948.1:c.556A>C
  • NM_001407949.1:c.556A>C
  • NM_001407950.1:c.556A>C
  • NM_001407951.1:c.556A>C
  • NM_001407952.1:c.556A>C
  • NM_001407953.1:c.556A>C
  • NM_001407954.1:c.553A>C
  • NM_001407955.1:c.553A>C
  • NM_001407956.1:c.553A>C
  • NM_001407957.1:c.556A>C
  • NM_001407958.1:c.553A>C
  • NM_001407959.1:c.508A>C
  • NM_001407960.1:c.508A>C
  • NM_001407962.1:c.505A>C
  • NM_001407963.1:c.508A>C
  • NM_001407964.1:c.745A>C
  • NM_001407965.1:c.385A>C
  • NM_001407966.1:c.1A>C
  • NM_001407967.1:c.1A>C
  • NM_001407968.1:c.787+102A>C
  • NM_001407969.1:c.787+102A>C
  • NM_001407970.1:c.787+102A>C
  • NM_001407971.1:c.787+102A>C
  • NM_001407972.1:c.784+102A>C
  • NM_001407973.1:c.787+102A>C
  • NM_001407974.1:c.787+102A>C
  • NM_001407975.1:c.787+102A>C
  • NM_001407976.1:c.787+102A>C
  • NM_001407977.1:c.787+102A>C
  • NM_001407978.1:c.787+102A>C
  • NM_001407979.1:c.787+102A>C
  • NM_001407980.1:c.787+102A>C
  • NM_001407981.1:c.787+102A>C
  • NM_001407982.1:c.787+102A>C
  • NM_001407983.1:c.787+102A>C
  • NM_001407984.1:c.784+102A>C
  • NM_001407985.1:c.784+102A>C
  • NM_001407986.1:c.784+102A>C
  • NM_001407990.1:c.787+102A>C
  • NM_001407991.1:c.784+102A>C
  • NM_001407992.1:c.784+102A>C
  • NM_001407993.1:c.787+102A>C
  • NM_001408392.1:c.784+102A>C
  • NM_001408396.1:c.784+102A>C
  • NM_001408397.1:c.784+102A>C
  • NM_001408398.1:c.784+102A>C
  • NM_001408399.1:c.784+102A>C
  • NM_001408400.1:c.784+102A>C
  • NM_001408401.1:c.784+102A>C
  • NM_001408402.1:c.784+102A>C
  • NM_001408403.1:c.787+102A>C
  • NM_001408404.1:c.787+102A>C
  • NM_001408406.1:c.790+99A>C
  • NM_001408407.1:c.784+102A>C
  • NM_001408408.1:c.778+102A>C
  • NM_001408409.1:c.709+102A>C
  • NM_001408410.1:c.646+102A>C
  • NM_001408411.1:c.709+102A>C
  • NM_001408412.1:c.709+102A>C
  • NM_001408413.1:c.706+102A>C
  • NM_001408414.1:c.709+102A>C
  • NM_001408415.1:c.709+102A>C
  • NM_001408416.1:c.706+102A>C
  • NM_001408418.1:c.670+1204A>C
  • NM_001408419.1:c.670+1204A>C
  • NM_001408420.1:c.670+1204A>C
  • NM_001408421.1:c.667+1204A>C
  • NM_001408422.1:c.670+1204A>C
  • NM_001408423.1:c.670+1204A>C
  • NM_001408424.1:c.667+1204A>C
  • NM_001408425.1:c.664+102A>C
  • NM_001408426.1:c.664+102A>C
  • NM_001408427.1:c.664+102A>C
  • NM_001408428.1:c.664+102A>C
  • NM_001408429.1:c.664+102A>C
  • NM_001408430.1:c.664+102A>C
  • NM_001408431.1:c.667+1204A>C
  • NM_001408432.1:c.661+102A>C
  • NM_001408433.1:c.661+102A>C
  • NM_001408434.1:c.661+102A>C
  • NM_001408435.1:c.661+102A>C
  • NM_001408436.1:c.664+102A>C
  • NM_001408437.1:c.664+102A>C
  • NM_001408438.1:c.664+102A>C
  • NM_001408439.1:c.664+102A>C
  • NM_001408440.1:c.664+102A>C
  • NM_001408441.1:c.664+102A>C
  • NM_001408442.1:c.664+102A>C
  • NM_001408443.1:c.664+102A>C
  • NM_001408444.1:c.664+102A>C
  • NM_001408445.1:c.661+102A>C
  • NM_001408446.1:c.661+102A>C
  • NM_001408447.1:c.661+102A>C
  • NM_001408448.1:c.661+102A>C
  • NM_001408450.1:c.661+102A>C
  • NM_001408451.1:c.652+102A>C
  • NM_001408452.1:c.646+102A>C
  • NM_001408453.1:c.646+102A>C
  • NM_001408454.1:c.646+102A>C
  • NM_001408455.1:c.646+102A>C
  • NM_001408456.1:c.646+102A>C
  • NM_001408457.1:c.646+102A>C
  • NM_001408458.1:c.646+102A>C
  • NM_001408459.1:c.646+102A>C
  • NM_001408460.1:c.646+102A>C
  • NM_001408461.1:c.646+102A>C
  • NM_001408462.1:c.643+102A>C
  • NM_001408463.1:c.643+102A>C
  • NM_001408464.1:c.643+102A>C
  • NM_001408465.1:c.643+102A>C
  • NM_001408466.1:c.646+102A>C
  • NM_001408467.1:c.646+102A>C
  • NM_001408468.1:c.643+102A>C
  • NM_001408469.1:c.646+102A>C
  • NM_001408470.1:c.643+102A>C
  • NM_001408472.1:c.787+102A>C
  • NM_001408473.1:c.784+102A>C
  • NM_001408474.1:c.586+102A>C
  • NM_001408475.1:c.583+102A>C
  • NM_001408476.1:c.586+102A>C
  • NM_001408478.1:c.577+102A>C
  • NM_001408479.1:c.577+102A>C
  • NM_001408480.1:c.577+102A>C
  • NM_001408481.1:c.577+102A>C
  • NM_001408482.1:c.577+102A>C
  • NM_001408483.1:c.577+102A>C
  • NM_001408484.1:c.577+102A>C
  • NM_001408485.1:c.577+102A>C
  • NM_001408489.1:c.577+102A>C
  • NM_001408490.1:c.574+102A>C
  • NM_001408491.1:c.574+102A>C
  • NM_001408492.1:c.577+102A>C
  • NM_001408493.1:c.574+102A>C
  • NM_001408494.1:c.548-3610A>C
  • NM_001408495.1:c.545-3610A>C
  • NM_001408496.1:c.523+102A>C
  • NM_001408497.1:c.523+102A>C
  • NM_001408498.1:c.523+102A>C
  • NM_001408499.1:c.523+102A>C
  • NM_001408500.1:c.523+102A>C
  • NM_001408501.1:c.523+102A>C
  • NM_001408502.1:c.454+102A>C
  • NM_001408503.1:c.520+102A>C
  • NM_001408504.1:c.520+102A>C
  • NM_001408505.1:c.520+102A>C
  • NM_001408506.1:c.460+1204A>C
  • NM_001408507.1:c.460+1204A>C
  • NM_001408508.1:c.451+102A>C
  • NM_001408509.1:c.451+102A>C
  • NM_001408510.1:c.406+102A>C
  • NM_001408511.1:c.404-3610A>C
  • NM_001408512.1:c.283+102A>C
  • NM_001408513.1:c.577+102A>C
  • NM_001408514.1:c.577+102A>C
  • NM_007294.4:c.889A>CMANE SELECT
  • NM_007297.4:c.748A>C
  • NM_007298.4:c.787+102A>C
  • NM_007299.4:c.787+102A>C
  • NM_007300.4:c.889A>C
  • NP_001394500.1:p.Met226Leu
  • NP_001394510.1:p.Met297Leu
  • NP_001394511.1:p.Met297Leu
  • NP_001394512.1:p.Met297Leu
  • NP_001394514.1:p.Met297Leu
  • NP_001394516.1:p.Met296Leu
  • NP_001394519.1:p.Met296Leu
  • NP_001394520.1:p.Met296Leu
  • NP_001394522.1:p.Met297Leu
  • NP_001394523.1:p.Met297Leu
  • NP_001394525.1:p.Met297Leu
  • NP_001394526.1:p.Met297Leu
  • NP_001394527.1:p.Met297Leu
  • NP_001394531.1:p.Met297Leu
  • NP_001394532.1:p.Met297Leu
  • NP_001394534.1:p.Met297Leu
  • NP_001394539.1:p.Met296Leu
  • NP_001394540.1:p.Met296Leu
  • NP_001394541.1:p.Met296Leu
  • NP_001394542.1:p.Met296Leu
  • NP_001394543.1:p.Met296Leu
  • NP_001394544.1:p.Met296Leu
  • NP_001394545.1:p.Met297Leu
  • NP_001394546.1:p.Met297Leu
  • NP_001394547.1:p.Met297Leu
  • NP_001394548.1:p.Met297Leu
  • NP_001394549.1:p.Met297Leu
  • NP_001394550.1:p.Met297Leu
  • NP_001394551.1:p.Met297Leu
  • NP_001394552.1:p.Met297Leu
  • NP_001394553.1:p.Met297Leu
  • NP_001394554.1:p.Met297Leu
  • NP_001394555.1:p.Met297Leu
  • NP_001394556.1:p.Met296Leu
  • NP_001394557.1:p.Met296Leu
  • NP_001394558.1:p.Met296Leu
  • NP_001394559.1:p.Met296Leu
  • NP_001394560.1:p.Met296Leu
  • NP_001394561.1:p.Met296Leu
  • NP_001394562.1:p.Met296Leu
  • NP_001394563.1:p.Met296Leu
  • NP_001394564.1:p.Met296Leu
  • NP_001394565.1:p.Met296Leu
  • NP_001394566.1:p.Met296Leu
  • NP_001394567.1:p.Met296Leu
  • NP_001394568.1:p.Met297Leu
  • NP_001394569.1:p.Met297Leu
  • NP_001394570.1:p.Met297Leu
  • NP_001394571.1:p.Met297Leu
  • NP_001394573.1:p.Met296Leu
  • NP_001394574.1:p.Met296Leu
  • NP_001394575.1:p.Met294Leu
  • NP_001394576.1:p.Met294Leu
  • NP_001394577.1:p.Met256Leu
  • NP_001394578.1:p.Met255Leu
  • NP_001394581.1:p.Met297Leu
  • NP_001394582.1:p.Met271Leu
  • NP_001394583.1:p.Met271Leu
  • NP_001394584.1:p.Met271Leu
  • NP_001394585.1:p.Met271Leu
  • NP_001394586.1:p.Met271Leu
  • NP_001394587.1:p.Met271Leu
  • NP_001394588.1:p.Met270Leu
  • NP_001394589.1:p.Met270Leu
  • NP_001394590.1:p.Met270Leu
  • NP_001394591.1:p.Met270Leu
  • NP_001394592.1:p.Met271Leu
  • NP_001394593.1:p.Met256Leu
  • NP_001394594.1:p.Met256Leu
  • NP_001394595.1:p.Met256Leu
  • NP_001394596.1:p.Met256Leu
  • NP_001394597.1:p.Met256Leu
  • NP_001394598.1:p.Met256Leu
  • NP_001394599.1:p.Met255Leu
  • NP_001394600.1:p.Met255Leu
  • NP_001394601.1:p.Met255Leu
  • NP_001394602.1:p.Met255Leu
  • NP_001394603.1:p.Met256Leu
  • NP_001394604.1:p.Met256Leu
  • NP_001394605.1:p.Met256Leu
  • NP_001394606.1:p.Met256Leu
  • NP_001394607.1:p.Met256Leu
  • NP_001394608.1:p.Met256Leu
  • NP_001394609.1:p.Met256Leu
  • NP_001394610.1:p.Met256Leu
  • NP_001394611.1:p.Met256Leu
  • NP_001394612.1:p.Met256Leu
  • NP_001394613.1:p.Met297Leu
  • NP_001394614.1:p.Met255Leu
  • NP_001394615.1:p.Met255Leu
  • NP_001394616.1:p.Met255Leu
  • NP_001394617.1:p.Met255Leu
  • NP_001394618.1:p.Met255Leu
  • NP_001394619.1:p.Met255Leu
  • NP_001394620.1:p.Met255Leu
  • NP_001394621.1:p.Met250Leu
  • NP_001394623.1:p.Met250Leu
  • NP_001394624.1:p.Met250Leu
  • NP_001394625.1:p.Met250Leu
  • NP_001394626.1:p.Met250Leu
  • NP_001394627.1:p.Met250Leu
  • NP_001394653.1:p.Met250Leu
  • NP_001394654.1:p.Met250Leu
  • NP_001394655.1:p.Met250Leu
  • NP_001394656.1:p.Met250Leu
  • NP_001394657.1:p.Met250Leu
  • NP_001394658.1:p.Met250Leu
  • NP_001394659.1:p.Met250Leu
  • NP_001394660.1:p.Met250Leu
  • NP_001394661.1:p.Met250Leu
  • NP_001394662.1:p.Met250Leu
  • NP_001394663.1:p.Met250Leu
  • NP_001394664.1:p.Met250Leu
  • NP_001394665.1:p.Met250Leu
  • NP_001394666.1:p.Met250Leu
  • NP_001394667.1:p.Met250Leu
  • NP_001394668.1:p.Met250Leu
  • NP_001394669.1:p.Met249Leu
  • NP_001394670.1:p.Met249Leu
  • NP_001394671.1:p.Met249Leu
  • NP_001394672.1:p.Met249Leu
  • NP_001394673.1:p.Met249Leu
  • NP_001394674.1:p.Met249Leu
  • NP_001394675.1:p.Met249Leu
  • NP_001394676.1:p.Met249Leu
  • NP_001394677.1:p.Met249Leu
  • NP_001394678.1:p.Met249Leu
  • NP_001394679.1:p.Met250Leu
  • NP_001394680.1:p.Met250Leu
  • NP_001394681.1:p.Met250Leu
  • NP_001394767.1:p.Met249Leu
  • NP_001394768.1:p.Met249Leu
  • NP_001394770.1:p.Met249Leu
  • NP_001394771.1:p.Met249Leu
  • NP_001394772.1:p.Met249Leu
  • NP_001394773.1:p.Met249Leu
  • NP_001394774.1:p.Met249Leu
  • NP_001394775.1:p.Met249Leu
  • NP_001394776.1:p.Met249Leu
  • NP_001394777.1:p.Met249Leu
  • NP_001394778.1:p.Met249Leu
  • NP_001394779.1:p.Met250Leu
  • NP_001394780.1:p.Met250Leu
  • NP_001394781.1:p.Met250Leu
  • NP_001394782.1:p.Met226Leu
  • NP_001394783.1:p.Met297Leu
  • NP_001394787.1:p.Met297Leu
  • NP_001394788.1:p.Met297Leu
  • NP_001394789.1:p.Met296Leu
  • NP_001394790.1:p.Met296Leu
  • NP_001394791.1:p.Met230Leu
  • NP_001394792.1:p.Met256Leu
  • NP_001394803.1:p.Met229Leu
  • NP_001394804.1:p.Met229Leu
  • NP_001394808.1:p.Met227Leu
  • NP_001394810.1:p.Met227Leu
  • NP_001394811.1:p.Met227Leu
  • NP_001394813.1:p.Met227Leu
  • NP_001394814.1:p.Met227Leu
  • NP_001394815.1:p.Met227Leu
  • NP_001394816.1:p.Met227Leu
  • NP_001394818.1:p.Met227Leu
  • NP_001394823.1:p.Met226Leu
  • NP_001394824.1:p.Met226Leu
  • NP_001394825.1:p.Met226Leu
  • NP_001394826.1:p.Met226Leu
  • NP_001394827.1:p.Met226Leu
  • NP_001394828.1:p.Met226Leu
  • NP_001394829.1:p.Met227Leu
  • NP_001394831.1:p.Met227Leu
  • NP_001394833.1:p.Met227Leu
  • NP_001394835.1:p.Met227Leu
  • NP_001394836.1:p.Met227Leu
  • NP_001394837.1:p.Met227Leu
  • NP_001394838.1:p.Met227Leu
  • NP_001394839.1:p.Met227Leu
  • NP_001394844.1:p.Met226Leu
  • NP_001394845.1:p.Met226Leu
  • NP_001394846.1:p.Met226Leu
  • NP_001394847.1:p.Met226Leu
  • NP_001394848.1:p.Met256Leu
  • NP_001394849.1:p.Met209Leu
  • NP_001394850.1:p.Met209Leu
  • NP_001394851.1:p.Met209Leu
  • NP_001394852.1:p.Met209Leu
  • NP_001394853.1:p.Met209Leu
  • NP_001394854.1:p.Met209Leu
  • NP_001394855.1:p.Met209Leu
  • NP_001394856.1:p.Met209Leu
  • NP_001394857.1:p.Met209Leu
  • NP_001394858.1:p.Met209Leu
  • NP_001394859.1:p.Met208Leu
  • NP_001394860.1:p.Met208Leu
  • NP_001394861.1:p.Met208Leu
  • NP_001394862.1:p.Met209Leu
  • NP_001394863.1:p.Met208Leu
  • NP_001394864.1:p.Met209Leu
  • NP_001394865.1:p.Met208Leu
  • NP_001394866.1:p.Met256Leu
  • NP_001394867.1:p.Met256Leu
  • NP_001394868.1:p.Met256Leu
  • NP_001394869.1:p.Met255Leu
  • NP_001394870.1:p.Met255Leu
  • NP_001394871.1:p.Met250Leu
  • NP_001394872.1:p.Met249Leu
  • NP_001394873.1:p.Met250Leu
  • NP_001394874.1:p.Met250Leu
  • NP_001394875.1:p.Met186Leu
  • NP_001394876.1:p.Met186Leu
  • NP_001394877.1:p.Met186Leu
  • NP_001394878.1:p.Met186Leu
  • NP_001394879.1:p.Met186Leu
  • NP_001394880.1:p.Met186Leu
  • NP_001394881.1:p.Met186Leu
  • NP_001394882.1:p.Met186Leu
  • NP_001394883.1:p.Met185Leu
  • NP_001394884.1:p.Met185Leu
  • NP_001394885.1:p.Met185Leu
  • NP_001394886.1:p.Met186Leu
  • NP_001394887.1:p.Met185Leu
  • NP_001394888.1:p.Met170Leu
  • NP_001394889.1:p.Met170Leu
  • NP_001394891.1:p.Met169Leu
  • NP_001394892.1:p.Met170Leu
  • NP_001394893.1:p.Met249Leu
  • NP_001394894.1:p.Met129Leu
  • NP_001394895.1:p.Met1Leu
  • NP_001394896.1:p.Met1Leu
  • NP_009225.1:p.Met297Leu
  • NP_009225.1:p.Met297Leu
  • NP_009228.2:p.Met250Leu
  • NP_009231.2:p.Met297Leu
  • LRG_292t1:c.889A>C
  • LRG_292:g.123342A>C
  • LRG_292p1:p.Met297Leu
  • NC_000017.10:g.41246659T>G
  • NM_007294.3:c.889A>C
  • NR_027676.1:n.1025A>C
  • U14680.1:n.1008A>C
Protein change:
M129L
Links:
dbSNP: rs80357196
NCBI 1000 Genomes Browser:
rs80357196
Molecular consequence:
  • NM_001407966.1:c.1A>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001407967.1:c.1A>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001407968.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+99A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3610A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3610A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1204A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3610A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+102A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.880A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.880A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.808A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.808A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.808A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.808A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.811A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.886A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.688A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.685A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.685A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.679A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.676A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.622A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.622A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.622A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.622A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.625A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.622A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.763A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.553A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.553A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.553A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.556A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.553A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.508A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.508A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.505A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.508A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.745A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.385A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.748A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000143934Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(May 29, 2002) 		germlineclinical testing

SCV000786454Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(May 3, 2018) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV004228324Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Likely benign
(Sep 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
Caucasiangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

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
See all PubMed Citations (3)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000143934.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000786454.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

PM2(Supporting)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024