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NM_007294.4(BRCA1):c.943A>G (p.Arg315Gly) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2022
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:
RCV001315064.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.943A>G (p.Arg315Gly)]

NM_007294.4(BRCA1):c.943A>G (p.Arg315Gly)

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.943A>G (p.Arg315Gly)
HGVS:
  • NC_000017.11:g.43094588T>C
  • NG_005905.2:g.123396A>G
  • NM_001407571.1:c.730A>G
  • NM_001407581.1:c.943A>G
  • NM_001407582.1:c.943A>G
  • NM_001407583.1:c.943A>G
  • NM_001407585.1:c.943A>G
  • NM_001407587.1:c.940A>G
  • NM_001407590.1:c.940A>G
  • NM_001407591.1:c.940A>G
  • NM_001407593.1:c.943A>G
  • NM_001407594.1:c.943A>G
  • NM_001407596.1:c.943A>G
  • NM_001407597.1:c.943A>G
  • NM_001407598.1:c.943A>G
  • NM_001407602.1:c.943A>G
  • NM_001407603.1:c.943A>G
  • NM_001407605.1:c.943A>G
  • NM_001407610.1:c.940A>G
  • NM_001407611.1:c.940A>G
  • NM_001407612.1:c.940A>G
  • NM_001407613.1:c.940A>G
  • NM_001407614.1:c.940A>G
  • NM_001407615.1:c.940A>G
  • NM_001407616.1:c.943A>G
  • NM_001407617.1:c.943A>G
  • NM_001407618.1:c.943A>G
  • NM_001407619.1:c.943A>G
  • NM_001407620.1:c.943A>G
  • NM_001407621.1:c.943A>G
  • NM_001407622.1:c.943A>G
  • NM_001407623.1:c.943A>G
  • NM_001407624.1:c.943A>G
  • NM_001407625.1:c.943A>G
  • NM_001407626.1:c.943A>G
  • NM_001407627.1:c.940A>G
  • NM_001407628.1:c.940A>G
  • NM_001407629.1:c.940A>G
  • NM_001407630.1:c.940A>G
  • NM_001407631.1:c.940A>G
  • NM_001407632.1:c.940A>G
  • NM_001407633.1:c.940A>G
  • NM_001407634.1:c.940A>G
  • NM_001407635.1:c.940A>G
  • NM_001407636.1:c.940A>G
  • NM_001407637.1:c.940A>G
  • NM_001407638.1:c.940A>G
  • NM_001407639.1:c.943A>G
  • NM_001407640.1:c.943A>G
  • NM_001407641.1:c.943A>G
  • NM_001407642.1:c.943A>G
  • NM_001407644.1:c.940A>G
  • NM_001407645.1:c.940A>G
  • NM_001407646.1:c.934A>G
  • NM_001407647.1:c.934A>G
  • NM_001407648.1:c.820A>G
  • NM_001407649.1:c.817A>G
  • NM_001407652.1:c.943A>G
  • NM_001407653.1:c.865A>G
  • NM_001407654.1:c.865A>G
  • NM_001407655.1:c.865A>G
  • NM_001407656.1:c.865A>G
  • NM_001407657.1:c.865A>G
  • NM_001407658.1:c.865A>G
  • NM_001407659.1:c.862A>G
  • NM_001407660.1:c.862A>G
  • NM_001407661.1:c.862A>G
  • NM_001407662.1:c.862A>G
  • NM_001407663.1:c.865A>G
  • NM_001407664.1:c.820A>G
  • NM_001407665.1:c.820A>G
  • NM_001407666.1:c.820A>G
  • NM_001407667.1:c.820A>G
  • NM_001407668.1:c.820A>G
  • NM_001407669.1:c.820A>G
  • NM_001407670.1:c.817A>G
  • NM_001407671.1:c.817A>G
  • NM_001407672.1:c.817A>G
  • NM_001407673.1:c.817A>G
  • NM_001407674.1:c.820A>G
  • NM_001407675.1:c.820A>G
  • NM_001407676.1:c.820A>G
  • NM_001407677.1:c.820A>G
  • NM_001407678.1:c.820A>G
  • NM_001407679.1:c.820A>G
  • NM_001407680.1:c.820A>G
  • NM_001407681.1:c.820A>G
  • NM_001407682.1:c.820A>G
  • NM_001407683.1:c.820A>G
  • NM_001407684.1:c.943A>G
  • NM_001407685.1:c.817A>G
  • NM_001407686.1:c.817A>G
  • NM_001407687.1:c.817A>G
  • NM_001407688.1:c.817A>G
  • NM_001407689.1:c.817A>G
  • NM_001407690.1:c.817A>G
  • NM_001407691.1:c.817A>G
  • NM_001407692.1:c.802A>G
  • NM_001407694.1:c.802A>G
  • NM_001407695.1:c.802A>G
  • NM_001407696.1:c.802A>G
  • NM_001407697.1:c.802A>G
  • NM_001407698.1:c.802A>G
  • NM_001407724.1:c.802A>G
  • NM_001407725.1:c.802A>G
  • NM_001407726.1:c.802A>G
  • NM_001407727.1:c.802A>G
  • NM_001407728.1:c.802A>G
  • NM_001407729.1:c.802A>G
  • NM_001407730.1:c.802A>G
  • NM_001407731.1:c.802A>G
  • NM_001407732.1:c.802A>G
  • NM_001407733.1:c.802A>G
  • NM_001407734.1:c.802A>G
  • NM_001407735.1:c.802A>G
  • NM_001407736.1:c.802A>G
  • NM_001407737.1:c.802A>G
  • NM_001407738.1:c.802A>G
  • NM_001407739.1:c.802A>G
  • NM_001407740.1:c.799A>G
  • NM_001407741.1:c.799A>G
  • NM_001407742.1:c.799A>G
  • NM_001407743.1:c.799A>G
  • NM_001407744.1:c.799A>G
  • NM_001407745.1:c.799A>G
  • NM_001407746.1:c.799A>G
  • NM_001407747.1:c.799A>G
  • NM_001407748.1:c.799A>G
  • NM_001407749.1:c.799A>G
  • NM_001407750.1:c.802A>G
  • NM_001407751.1:c.802A>G
  • NM_001407752.1:c.802A>G
  • NM_001407838.1:c.799A>G
  • NM_001407839.1:c.799A>G
  • NM_001407841.1:c.799A>G
  • NM_001407842.1:c.799A>G
  • NM_001407843.1:c.799A>G
  • NM_001407844.1:c.799A>G
  • NM_001407845.1:c.799A>G
  • NM_001407846.1:c.799A>G
  • NM_001407847.1:c.799A>G
  • NM_001407848.1:c.799A>G
  • NM_001407849.1:c.799A>G
  • NM_001407850.1:c.802A>G
  • NM_001407851.1:c.802A>G
  • NM_001407852.1:c.802A>G
  • NM_001407853.1:c.730A>G
  • NM_001407854.1:c.943A>G
  • NM_001407858.1:c.943A>G
  • NM_001407859.1:c.943A>G
  • NM_001407860.1:c.940A>G
  • NM_001407861.1:c.940A>G
  • NM_001407862.1:c.742A>G
  • NM_001407863.1:c.820A>G
  • NM_001407874.1:c.739A>G
  • NM_001407875.1:c.739A>G
  • NM_001407879.1:c.733A>G
  • NM_001407881.1:c.733A>G
  • NM_001407882.1:c.733A>G
  • NM_001407884.1:c.733A>G
  • NM_001407885.1:c.733A>G
  • NM_001407886.1:c.733A>G
  • NM_001407887.1:c.733A>G
  • NM_001407889.1:c.733A>G
  • NM_001407894.1:c.730A>G
  • NM_001407895.1:c.730A>G
  • NM_001407896.1:c.730A>G
  • NM_001407897.1:c.730A>G
  • NM_001407898.1:c.730A>G
  • NM_001407899.1:c.730A>G
  • NM_001407900.1:c.733A>G
  • NM_001407902.1:c.733A>G
  • NM_001407904.1:c.733A>G
  • NM_001407906.1:c.733A>G
  • NM_001407907.1:c.733A>G
  • NM_001407908.1:c.733A>G
  • NM_001407909.1:c.733A>G
  • NM_001407910.1:c.733A>G
  • NM_001407915.1:c.730A>G
  • NM_001407916.1:c.730A>G
  • NM_001407917.1:c.730A>G
  • NM_001407918.1:c.730A>G
  • NM_001407919.1:c.820A>G
  • NM_001407920.1:c.679A>G
  • NM_001407921.1:c.679A>G
  • NM_001407922.1:c.679A>G
  • NM_001407923.1:c.679A>G
  • NM_001407924.1:c.679A>G
  • NM_001407925.1:c.679A>G
  • NM_001407926.1:c.679A>G
  • NM_001407927.1:c.679A>G
  • NM_001407928.1:c.679A>G
  • NM_001407929.1:c.679A>G
  • NM_001407930.1:c.676A>G
  • NM_001407931.1:c.676A>G
  • NM_001407932.1:c.676A>G
  • NM_001407933.1:c.679A>G
  • NM_001407934.1:c.676A>G
  • NM_001407935.1:c.679A>G
  • NM_001407936.1:c.676A>G
  • NM_001407937.1:c.820A>G
  • NM_001407938.1:c.820A>G
  • NM_001407939.1:c.820A>G
  • NM_001407940.1:c.817A>G
  • NM_001407941.1:c.817A>G
  • NM_001407942.1:c.802A>G
  • NM_001407943.1:c.799A>G
  • NM_001407944.1:c.802A>G
  • NM_001407945.1:c.802A>G
  • NM_001407946.1:c.610A>G
  • NM_001407947.1:c.610A>G
  • NM_001407948.1:c.610A>G
  • NM_001407949.1:c.610A>G
  • NM_001407950.1:c.610A>G
  • NM_001407951.1:c.610A>G
  • NM_001407952.1:c.610A>G
  • NM_001407953.1:c.610A>G
  • NM_001407954.1:c.607A>G
  • NM_001407955.1:c.607A>G
  • NM_001407956.1:c.607A>G
  • NM_001407957.1:c.610A>G
  • NM_001407958.1:c.607A>G
  • NM_001407959.1:c.562A>G
  • NM_001407960.1:c.562A>G
  • NM_001407962.1:c.559A>G
  • NM_001407963.1:c.562A>G
  • NM_001407964.1:c.799A>G
  • NM_001407965.1:c.439A>G
  • NM_001407966.1:c.55A>G
  • NM_001407967.1:c.55A>G
  • NM_001407968.1:c.787+156A>G
  • NM_001407969.1:c.787+156A>G
  • NM_001407970.1:c.787+156A>G
  • NM_001407971.1:c.787+156A>G
  • NM_001407972.1:c.784+156A>G
  • NM_001407973.1:c.787+156A>G
  • NM_001407974.1:c.787+156A>G
  • NM_001407975.1:c.787+156A>G
  • NM_001407976.1:c.787+156A>G
  • NM_001407977.1:c.787+156A>G
  • NM_001407978.1:c.787+156A>G
  • NM_001407979.1:c.787+156A>G
  • NM_001407980.1:c.787+156A>G
  • NM_001407981.1:c.787+156A>G
  • NM_001407982.1:c.787+156A>G
  • NM_001407983.1:c.787+156A>G
  • NM_001407984.1:c.784+156A>G
  • NM_001407985.1:c.784+156A>G
  • NM_001407986.1:c.784+156A>G
  • NM_001407990.1:c.787+156A>G
  • NM_001407991.1:c.784+156A>G
  • NM_001407992.1:c.784+156A>G
  • NM_001407993.1:c.787+156A>G
  • NM_001408392.1:c.784+156A>G
  • NM_001408396.1:c.784+156A>G
  • NM_001408397.1:c.784+156A>G
  • NM_001408398.1:c.784+156A>G
  • NM_001408399.1:c.784+156A>G
  • NM_001408400.1:c.784+156A>G
  • NM_001408401.1:c.784+156A>G
  • NM_001408402.1:c.784+156A>G
  • NM_001408403.1:c.787+156A>G
  • NM_001408404.1:c.787+156A>G
  • NM_001408406.1:c.790+153A>G
  • NM_001408407.1:c.784+156A>G
  • NM_001408408.1:c.778+156A>G
  • NM_001408409.1:c.709+156A>G
  • NM_001408410.1:c.646+156A>G
  • NM_001408411.1:c.709+156A>G
  • NM_001408412.1:c.709+156A>G
  • NM_001408413.1:c.706+156A>G
  • NM_001408414.1:c.709+156A>G
  • NM_001408415.1:c.709+156A>G
  • NM_001408416.1:c.706+156A>G
  • NM_001408418.1:c.670+1258A>G
  • NM_001408419.1:c.670+1258A>G
  • NM_001408420.1:c.670+1258A>G
  • NM_001408421.1:c.667+1258A>G
  • NM_001408422.1:c.670+1258A>G
  • NM_001408423.1:c.670+1258A>G
  • NM_001408424.1:c.667+1258A>G
  • NM_001408425.1:c.664+156A>G
  • NM_001408426.1:c.664+156A>G
  • NM_001408427.1:c.664+156A>G
  • NM_001408428.1:c.664+156A>G
  • NM_001408429.1:c.664+156A>G
  • NM_001408430.1:c.664+156A>G
  • NM_001408431.1:c.667+1258A>G
  • NM_001408432.1:c.661+156A>G
  • NM_001408433.1:c.661+156A>G
  • NM_001408434.1:c.661+156A>G
  • NM_001408435.1:c.661+156A>G
  • NM_001408436.1:c.664+156A>G
  • NM_001408437.1:c.664+156A>G
  • NM_001408438.1:c.664+156A>G
  • NM_001408439.1:c.664+156A>G
  • NM_001408440.1:c.664+156A>G
  • NM_001408441.1:c.664+156A>G
  • NM_001408442.1:c.664+156A>G
  • NM_001408443.1:c.664+156A>G
  • NM_001408444.1:c.664+156A>G
  • NM_001408445.1:c.661+156A>G
  • NM_001408446.1:c.661+156A>G
  • NM_001408447.1:c.661+156A>G
  • NM_001408448.1:c.661+156A>G
  • NM_001408450.1:c.661+156A>G
  • NM_001408451.1:c.652+156A>G
  • NM_001408452.1:c.646+156A>G
  • NM_001408453.1:c.646+156A>G
  • NM_001408454.1:c.646+156A>G
  • NM_001408455.1:c.646+156A>G
  • NM_001408456.1:c.646+156A>G
  • NM_001408457.1:c.646+156A>G
  • NM_001408458.1:c.646+156A>G
  • NM_001408459.1:c.646+156A>G
  • NM_001408460.1:c.646+156A>G
  • NM_001408461.1:c.646+156A>G
  • NM_001408462.1:c.643+156A>G
  • NM_001408463.1:c.643+156A>G
  • NM_001408464.1:c.643+156A>G
  • NM_001408465.1:c.643+156A>G
  • NM_001408466.1:c.646+156A>G
  • NM_001408467.1:c.646+156A>G
  • NM_001408468.1:c.643+156A>G
  • NM_001408469.1:c.646+156A>G
  • NM_001408470.1:c.643+156A>G
  • NM_001408472.1:c.787+156A>G
  • NM_001408473.1:c.784+156A>G
  • NM_001408474.1:c.586+156A>G
  • NM_001408475.1:c.583+156A>G
  • NM_001408476.1:c.586+156A>G
  • NM_001408478.1:c.577+156A>G
  • NM_001408479.1:c.577+156A>G
  • NM_001408480.1:c.577+156A>G
  • NM_001408481.1:c.577+156A>G
  • NM_001408482.1:c.577+156A>G
  • NM_001408483.1:c.577+156A>G
  • NM_001408484.1:c.577+156A>G
  • NM_001408485.1:c.577+156A>G
  • NM_001408489.1:c.577+156A>G
  • NM_001408490.1:c.574+156A>G
  • NM_001408491.1:c.574+156A>G
  • NM_001408492.1:c.577+156A>G
  • NM_001408493.1:c.574+156A>G
  • NM_001408494.1:c.548-3556A>G
  • NM_001408495.1:c.545-3556A>G
  • NM_001408496.1:c.523+156A>G
  • NM_001408497.1:c.523+156A>G
  • NM_001408498.1:c.523+156A>G
  • NM_001408499.1:c.523+156A>G
  • NM_001408500.1:c.523+156A>G
  • NM_001408501.1:c.523+156A>G
  • NM_001408502.1:c.454+156A>G
  • NM_001408503.1:c.520+156A>G
  • NM_001408504.1:c.520+156A>G
  • NM_001408505.1:c.520+156A>G
  • NM_001408506.1:c.460+1258A>G
  • NM_001408507.1:c.460+1258A>G
  • NM_001408508.1:c.451+156A>G
  • NM_001408509.1:c.451+156A>G
  • NM_001408510.1:c.406+156A>G
  • NM_001408511.1:c.404-3556A>G
  • NM_001408512.1:c.283+156A>G
  • NM_001408513.1:c.577+156A>G
  • NM_001408514.1:c.577+156A>G
  • NM_007294.4:c.943A>GMANE SELECT
  • NM_007297.4:c.802A>G
  • NM_007298.4:c.787+156A>G
  • NM_007299.4:c.787+156A>G
  • NM_007300.4:c.943A>G
  • NP_001394500.1:p.Arg244Gly
  • NP_001394510.1:p.Arg315Gly
  • NP_001394511.1:p.Arg315Gly
  • NP_001394512.1:p.Arg315Gly
  • NP_001394514.1:p.Arg315Gly
  • NP_001394516.1:p.Arg314Gly
  • NP_001394519.1:p.Arg314Gly
  • NP_001394520.1:p.Arg314Gly
  • NP_001394522.1:p.Arg315Gly
  • NP_001394523.1:p.Arg315Gly
  • NP_001394525.1:p.Arg315Gly
  • NP_001394526.1:p.Arg315Gly
  • NP_001394527.1:p.Arg315Gly
  • NP_001394531.1:p.Arg315Gly
  • NP_001394532.1:p.Arg315Gly
  • NP_001394534.1:p.Arg315Gly
  • NP_001394539.1:p.Arg314Gly
  • NP_001394540.1:p.Arg314Gly
  • NP_001394541.1:p.Arg314Gly
  • NP_001394542.1:p.Arg314Gly
  • NP_001394543.1:p.Arg314Gly
  • NP_001394544.1:p.Arg314Gly
  • NP_001394545.1:p.Arg315Gly
  • NP_001394546.1:p.Arg315Gly
  • NP_001394547.1:p.Arg315Gly
  • NP_001394548.1:p.Arg315Gly
  • NP_001394549.1:p.Arg315Gly
  • NP_001394550.1:p.Arg315Gly
  • NP_001394551.1:p.Arg315Gly
  • NP_001394552.1:p.Arg315Gly
  • NP_001394553.1:p.Arg315Gly
  • NP_001394554.1:p.Arg315Gly
  • NP_001394555.1:p.Arg315Gly
  • NP_001394556.1:p.Arg314Gly
  • NP_001394557.1:p.Arg314Gly
  • NP_001394558.1:p.Arg314Gly
  • NP_001394559.1:p.Arg314Gly
  • NP_001394560.1:p.Arg314Gly
  • NP_001394561.1:p.Arg314Gly
  • NP_001394562.1:p.Arg314Gly
  • NP_001394563.1:p.Arg314Gly
  • NP_001394564.1:p.Arg314Gly
  • NP_001394565.1:p.Arg314Gly
  • NP_001394566.1:p.Arg314Gly
  • NP_001394567.1:p.Arg314Gly
  • NP_001394568.1:p.Arg315Gly
  • NP_001394569.1:p.Arg315Gly
  • NP_001394570.1:p.Arg315Gly
  • NP_001394571.1:p.Arg315Gly
  • NP_001394573.1:p.Arg314Gly
  • NP_001394574.1:p.Arg314Gly
  • NP_001394575.1:p.Arg312Gly
  • NP_001394576.1:p.Arg312Gly
  • NP_001394577.1:p.Arg274Gly
  • NP_001394578.1:p.Arg273Gly
  • NP_001394581.1:p.Arg315Gly
  • NP_001394582.1:p.Arg289Gly
  • NP_001394583.1:p.Arg289Gly
  • NP_001394584.1:p.Arg289Gly
  • NP_001394585.1:p.Arg289Gly
  • NP_001394586.1:p.Arg289Gly
  • NP_001394587.1:p.Arg289Gly
  • NP_001394588.1:p.Arg288Gly
  • NP_001394589.1:p.Arg288Gly
  • NP_001394590.1:p.Arg288Gly
  • NP_001394591.1:p.Arg288Gly
  • NP_001394592.1:p.Arg289Gly
  • NP_001394593.1:p.Arg274Gly
  • NP_001394594.1:p.Arg274Gly
  • NP_001394595.1:p.Arg274Gly
  • NP_001394596.1:p.Arg274Gly
  • NP_001394597.1:p.Arg274Gly
  • NP_001394598.1:p.Arg274Gly
  • NP_001394599.1:p.Arg273Gly
  • NP_001394600.1:p.Arg273Gly
  • NP_001394601.1:p.Arg273Gly
  • NP_001394602.1:p.Arg273Gly
  • NP_001394603.1:p.Arg274Gly
  • NP_001394604.1:p.Arg274Gly
  • NP_001394605.1:p.Arg274Gly
  • NP_001394606.1:p.Arg274Gly
  • NP_001394607.1:p.Arg274Gly
  • NP_001394608.1:p.Arg274Gly
  • NP_001394609.1:p.Arg274Gly
  • NP_001394610.1:p.Arg274Gly
  • NP_001394611.1:p.Arg274Gly
  • NP_001394612.1:p.Arg274Gly
  • NP_001394613.1:p.Arg315Gly
  • NP_001394614.1:p.Arg273Gly
  • NP_001394615.1:p.Arg273Gly
  • NP_001394616.1:p.Arg273Gly
  • NP_001394617.1:p.Arg273Gly
  • NP_001394618.1:p.Arg273Gly
  • NP_001394619.1:p.Arg273Gly
  • NP_001394620.1:p.Arg273Gly
  • NP_001394621.1:p.Arg268Gly
  • NP_001394623.1:p.Arg268Gly
  • NP_001394624.1:p.Arg268Gly
  • NP_001394625.1:p.Arg268Gly
  • NP_001394626.1:p.Arg268Gly
  • NP_001394627.1:p.Arg268Gly
  • NP_001394653.1:p.Arg268Gly
  • NP_001394654.1:p.Arg268Gly
  • NP_001394655.1:p.Arg268Gly
  • NP_001394656.1:p.Arg268Gly
  • NP_001394657.1:p.Arg268Gly
  • NP_001394658.1:p.Arg268Gly
  • NP_001394659.1:p.Arg268Gly
  • NP_001394660.1:p.Arg268Gly
  • NP_001394661.1:p.Arg268Gly
  • NP_001394662.1:p.Arg268Gly
  • NP_001394663.1:p.Arg268Gly
  • NP_001394664.1:p.Arg268Gly
  • NP_001394665.1:p.Arg268Gly
  • NP_001394666.1:p.Arg268Gly
  • NP_001394667.1:p.Arg268Gly
  • NP_001394668.1:p.Arg268Gly
  • NP_001394669.1:p.Arg267Gly
  • NP_001394670.1:p.Arg267Gly
  • NP_001394671.1:p.Arg267Gly
  • NP_001394672.1:p.Arg267Gly
  • NP_001394673.1:p.Arg267Gly
  • NP_001394674.1:p.Arg267Gly
  • NP_001394675.1:p.Arg267Gly
  • NP_001394676.1:p.Arg267Gly
  • NP_001394677.1:p.Arg267Gly
  • NP_001394678.1:p.Arg267Gly
  • NP_001394679.1:p.Arg268Gly
  • NP_001394680.1:p.Arg268Gly
  • NP_001394681.1:p.Arg268Gly
  • NP_001394767.1:p.Arg267Gly
  • NP_001394768.1:p.Arg267Gly
  • NP_001394770.1:p.Arg267Gly
  • NP_001394771.1:p.Arg267Gly
  • NP_001394772.1:p.Arg267Gly
  • NP_001394773.1:p.Arg267Gly
  • NP_001394774.1:p.Arg267Gly
  • NP_001394775.1:p.Arg267Gly
  • NP_001394776.1:p.Arg267Gly
  • NP_001394777.1:p.Arg267Gly
  • NP_001394778.1:p.Arg267Gly
  • NP_001394779.1:p.Arg268Gly
  • NP_001394780.1:p.Arg268Gly
  • NP_001394781.1:p.Arg268Gly
  • NP_001394782.1:p.Arg244Gly
  • NP_001394783.1:p.Arg315Gly
  • NP_001394787.1:p.Arg315Gly
  • NP_001394788.1:p.Arg315Gly
  • NP_001394789.1:p.Arg314Gly
  • NP_001394790.1:p.Arg314Gly
  • NP_001394791.1:p.Arg248Gly
  • NP_001394792.1:p.Arg274Gly
  • NP_001394803.1:p.Arg247Gly
  • NP_001394804.1:p.Arg247Gly
  • NP_001394808.1:p.Arg245Gly
  • NP_001394810.1:p.Arg245Gly
  • NP_001394811.1:p.Arg245Gly
  • NP_001394813.1:p.Arg245Gly
  • NP_001394814.1:p.Arg245Gly
  • NP_001394815.1:p.Arg245Gly
  • NP_001394816.1:p.Arg245Gly
  • NP_001394818.1:p.Arg245Gly
  • NP_001394823.1:p.Arg244Gly
  • NP_001394824.1:p.Arg244Gly
  • NP_001394825.1:p.Arg244Gly
  • NP_001394826.1:p.Arg244Gly
  • NP_001394827.1:p.Arg244Gly
  • NP_001394828.1:p.Arg244Gly
  • NP_001394829.1:p.Arg245Gly
  • NP_001394831.1:p.Arg245Gly
  • NP_001394833.1:p.Arg245Gly
  • NP_001394835.1:p.Arg245Gly
  • NP_001394836.1:p.Arg245Gly
  • NP_001394837.1:p.Arg245Gly
  • NP_001394838.1:p.Arg245Gly
  • NP_001394839.1:p.Arg245Gly
  • NP_001394844.1:p.Arg244Gly
  • NP_001394845.1:p.Arg244Gly
  • NP_001394846.1:p.Arg244Gly
  • NP_001394847.1:p.Arg244Gly
  • NP_001394848.1:p.Arg274Gly
  • NP_001394849.1:p.Arg227Gly
  • NP_001394850.1:p.Arg227Gly
  • NP_001394851.1:p.Arg227Gly
  • NP_001394852.1:p.Arg227Gly
  • NP_001394853.1:p.Arg227Gly
  • NP_001394854.1:p.Arg227Gly
  • NP_001394855.1:p.Arg227Gly
  • NP_001394856.1:p.Arg227Gly
  • NP_001394857.1:p.Arg227Gly
  • NP_001394858.1:p.Arg227Gly
  • NP_001394859.1:p.Arg226Gly
  • NP_001394860.1:p.Arg226Gly
  • NP_001394861.1:p.Arg226Gly
  • NP_001394862.1:p.Arg227Gly
  • NP_001394863.1:p.Arg226Gly
  • NP_001394864.1:p.Arg227Gly
  • NP_001394865.1:p.Arg226Gly
  • NP_001394866.1:p.Arg274Gly
  • NP_001394867.1:p.Arg274Gly
  • NP_001394868.1:p.Arg274Gly
  • NP_001394869.1:p.Arg273Gly
  • NP_001394870.1:p.Arg273Gly
  • NP_001394871.1:p.Arg268Gly
  • NP_001394872.1:p.Arg267Gly
  • NP_001394873.1:p.Arg268Gly
  • NP_001394874.1:p.Arg268Gly
  • NP_001394875.1:p.Arg204Gly
  • NP_001394876.1:p.Arg204Gly
  • NP_001394877.1:p.Arg204Gly
  • NP_001394878.1:p.Arg204Gly
  • NP_001394879.1:p.Arg204Gly
  • NP_001394880.1:p.Arg204Gly
  • NP_001394881.1:p.Arg204Gly
  • NP_001394882.1:p.Arg204Gly
  • NP_001394883.1:p.Arg203Gly
  • NP_001394884.1:p.Arg203Gly
  • NP_001394885.1:p.Arg203Gly
  • NP_001394886.1:p.Arg204Gly
  • NP_001394887.1:p.Arg203Gly
  • NP_001394888.1:p.Arg188Gly
  • NP_001394889.1:p.Arg188Gly
  • NP_001394891.1:p.Arg187Gly
  • NP_001394892.1:p.Arg188Gly
  • NP_001394893.1:p.Arg267Gly
  • NP_001394894.1:p.Arg147Gly
  • NP_001394895.1:p.Arg19Gly
  • NP_001394896.1:p.Arg19Gly
  • NP_009225.1:p.Arg315Gly
  • NP_009225.1:p.Arg315Gly
  • NP_009228.2:p.Arg268Gly
  • NP_009231.2:p.Arg315Gly
  • LRG_292t1:c.943A>G
  • LRG_292:g.123396A>G
  • LRG_292p1:p.Arg315Gly
  • NC_000017.10:g.41246605T>C
  • NM_007294.3:c.943A>G
  • NR_027676.1:n.1079A>G
  • U14680.1:n.1062A>G
Protein change:
R147G
Links:
dbSNP: rs80357050
NCBI 1000 Genomes Browser:
rs80357050
Molecular consequence:
  • NM_001407968.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+153A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3556A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3556A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1258A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3556A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+156A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.862A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.862A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.862A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.862A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.865A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.733A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.817A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.559A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.562A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.799A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.55A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.55A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.802A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.943A>G - 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
SCV001505620Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 13, 2022) 		germlineclinical testing

PubMed (3)
[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

Breast cancer genetics in African Americans.

Olopade OI, Fackenthal JD, Dunston G, Tainsky MA, Collins F, Whitfield-Broome C.

Cancer. 2003 Jan 1;97(1 Suppl):236-45. Review.

PubMed [citation]
PMID:
12491487

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

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

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

PubMed [citation]
PMID:
16267036
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001505620.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 315 of the BRCA1 protein (p.Arg315Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 12491487, 16267036). ClinVar contains an entry for this variant (Variation ID: 55761). 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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.

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

Last Updated: Mar 30, 2024