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NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2023
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:
RCV001348061.8

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]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001542349Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 23, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S.

Eur J Intern Med. 2016 Jul;32:65-71. doi: 10.1016/j.ejim.2016.03.010. Epub 2016 Apr 6.

PubMed [citation]
PMID:
27062684
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001542349.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 55741). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 15235020, 27062684, 30254663, 34178674). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 297 of the BRCA1 protein (p.Met297Leu).

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

Last Updated: Oct 8, 2024