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

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Jul 12, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000775184.12

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 cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000909398Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 7, 2022) 		germlineclinical testing

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

SCV002686200Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 12, 2023) 		germlineclinical testing

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

Citation Link,

SCV003847869University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

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

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Incorvaia L, Fanale D, Badalamenti G, Bono M, Calò V, Cancelliere D, Castiglia M, Fiorino A, Pivetti A, Barraco N, Cutaia S, Russo A, Bazan V.

Cancers (Basel). 2020 May 5;12(5). doi:pii: E1158. 10.3390/cancers12051158.

PubMed [citation]
PMID:
32380732
PMCID:
PMC7280980
See all PubMed Citations (7)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000909398.4

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

Description

This missense variant replaces methionine with leucine at codon 297 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with breast cancer and one suspected hereditary breast and ovarian cancer family (PMID: 27062684, 30254663, 32380732, 34178674). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From Ambry Genetics, SCV002686200.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.M297L variant (also known as c.889A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 889. The methionine at codon 297 is replaced by leucine, an amino acid with highly similar properties. This alteration was reported in trans with a BRCA1 pathogenic mutation based on haplotype analysis in a patient with breast and/or ovarian cancer who underwent clinical genetic testing, and was classified as a variant of unknown significance (Judkins T et al. Cancer Res. 2005 Nov;65(21):10096-103). In a study of 1854 high-risk breast/ovarian cancer families in Italy, this alteration was detected in one family (Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71). This alteration was also observed in 1 of 1045 Italian patients with breast and/or ovarian cancer fulfilling established criteria for HBOC genetic testing (Zuntini R et al. Front Genet, 2018 Sep;9:378). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003847869.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Oct 8, 2024