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NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) AND not provided

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Mar 9, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000587332.30

Allele description [Variation Report for NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)]

NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)

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.1001C>T (p.Pro334Leu)
Other names:
p.P334L:CCC>CTC; 1120C>T
HGVS:
  • NC_000017.11:g.43094530G>A
  • NG_005905.2:g.123454C>T
  • NM_001407571.1:c.788C>T
  • NM_001407581.1:c.1001C>T
  • NM_001407582.1:c.1001C>T
  • NM_001407583.1:c.1001C>T
  • NM_001407585.1:c.1001C>T
  • NM_001407587.1:c.998C>T
  • NM_001407590.1:c.998C>T
  • NM_001407591.1:c.998C>T
  • NM_001407593.1:c.1001C>T
  • NM_001407594.1:c.1001C>T
  • NM_001407596.1:c.1001C>T
  • NM_001407597.1:c.1001C>T
  • NM_001407598.1:c.1001C>T
  • NM_001407602.1:c.1001C>T
  • NM_001407603.1:c.1001C>T
  • NM_001407605.1:c.1001C>T
  • NM_001407610.1:c.998C>T
  • NM_001407611.1:c.998C>T
  • NM_001407612.1:c.998C>T
  • NM_001407613.1:c.998C>T
  • NM_001407614.1:c.998C>T
  • NM_001407615.1:c.998C>T
  • NM_001407616.1:c.1001C>T
  • NM_001407617.1:c.1001C>T
  • NM_001407618.1:c.1001C>T
  • NM_001407619.1:c.1001C>T
  • NM_001407620.1:c.1001C>T
  • NM_001407621.1:c.1001C>T
  • NM_001407622.1:c.1001C>T
  • NM_001407623.1:c.1001C>T
  • NM_001407624.1:c.1001C>T
  • NM_001407625.1:c.1001C>T
  • NM_001407626.1:c.1001C>T
  • NM_001407627.1:c.998C>T
  • NM_001407628.1:c.998C>T
  • NM_001407629.1:c.998C>T
  • NM_001407630.1:c.998C>T
  • NM_001407631.1:c.998C>T
  • NM_001407632.1:c.998C>T
  • NM_001407633.1:c.998C>T
  • NM_001407634.1:c.998C>T
  • NM_001407635.1:c.998C>T
  • NM_001407636.1:c.998C>T
  • NM_001407637.1:c.998C>T
  • NM_001407638.1:c.998C>T
  • NM_001407639.1:c.1001C>T
  • NM_001407640.1:c.1001C>T
  • NM_001407641.1:c.1001C>T
  • NM_001407642.1:c.1001C>T
  • NM_001407644.1:c.998C>T
  • NM_001407645.1:c.998C>T
  • NM_001407646.1:c.992C>T
  • NM_001407647.1:c.992C>T
  • NM_001407648.1:c.878C>T
  • NM_001407649.1:c.875C>T
  • NM_001407652.1:c.1001C>T
  • NM_001407653.1:c.923C>T
  • NM_001407654.1:c.923C>T
  • NM_001407655.1:c.923C>T
  • NM_001407656.1:c.923C>T
  • NM_001407657.1:c.923C>T
  • NM_001407658.1:c.923C>T
  • NM_001407659.1:c.920C>T
  • NM_001407660.1:c.920C>T
  • NM_001407661.1:c.920C>T
  • NM_001407662.1:c.920C>T
  • NM_001407663.1:c.923C>T
  • NM_001407664.1:c.878C>T
  • NM_001407665.1:c.878C>T
  • NM_001407666.1:c.878C>T
  • NM_001407667.1:c.878C>T
  • NM_001407668.1:c.878C>T
  • NM_001407669.1:c.878C>T
  • NM_001407670.1:c.875C>T
  • NM_001407671.1:c.875C>T
  • NM_001407672.1:c.875C>T
  • NM_001407673.1:c.875C>T
  • NM_001407674.1:c.878C>T
  • NM_001407675.1:c.878C>T
  • NM_001407676.1:c.878C>T
  • NM_001407677.1:c.878C>T
  • NM_001407678.1:c.878C>T
  • NM_001407679.1:c.878C>T
  • NM_001407680.1:c.878C>T
  • NM_001407681.1:c.878C>T
  • NM_001407682.1:c.878C>T
  • NM_001407683.1:c.878C>T
  • NM_001407684.1:c.1001C>T
  • NM_001407685.1:c.875C>T
  • NM_001407686.1:c.875C>T
  • NM_001407687.1:c.875C>T
  • NM_001407688.1:c.875C>T
  • NM_001407689.1:c.875C>T
  • NM_001407690.1:c.875C>T
  • NM_001407691.1:c.875C>T
  • NM_001407692.1:c.860C>T
  • NM_001407694.1:c.860C>T
  • NM_001407695.1:c.860C>T
  • NM_001407696.1:c.860C>T
  • NM_001407697.1:c.860C>T
  • NM_001407698.1:c.860C>T
  • NM_001407724.1:c.860C>T
  • NM_001407725.1:c.860C>T
  • NM_001407726.1:c.860C>T
  • NM_001407727.1:c.860C>T
  • NM_001407728.1:c.860C>T
  • NM_001407729.1:c.860C>T
  • NM_001407730.1:c.860C>T
  • NM_001407731.1:c.860C>T
  • NM_001407732.1:c.860C>T
  • NM_001407733.1:c.860C>T
  • NM_001407734.1:c.860C>T
  • NM_001407735.1:c.860C>T
  • NM_001407736.1:c.860C>T
  • NM_001407737.1:c.860C>T
  • NM_001407738.1:c.860C>T
  • NM_001407739.1:c.860C>T
  • NM_001407740.1:c.857C>T
  • NM_001407741.1:c.857C>T
  • NM_001407742.1:c.857C>T
  • NM_001407743.1:c.857C>T
  • NM_001407744.1:c.857C>T
  • NM_001407745.1:c.857C>T
  • NM_001407746.1:c.857C>T
  • NM_001407747.1:c.857C>T
  • NM_001407748.1:c.857C>T
  • NM_001407749.1:c.857C>T
  • NM_001407750.1:c.860C>T
  • NM_001407751.1:c.860C>T
  • NM_001407752.1:c.860C>T
  • NM_001407838.1:c.857C>T
  • NM_001407839.1:c.857C>T
  • NM_001407841.1:c.857C>T
  • NM_001407842.1:c.857C>T
  • NM_001407843.1:c.857C>T
  • NM_001407844.1:c.857C>T
  • NM_001407845.1:c.857C>T
  • NM_001407846.1:c.857C>T
  • NM_001407847.1:c.857C>T
  • NM_001407848.1:c.857C>T
  • NM_001407849.1:c.857C>T
  • NM_001407850.1:c.860C>T
  • NM_001407851.1:c.860C>T
  • NM_001407852.1:c.860C>T
  • NM_001407853.1:c.788C>T
  • NM_001407854.1:c.1001C>T
  • NM_001407858.1:c.1001C>T
  • NM_001407859.1:c.1001C>T
  • NM_001407860.1:c.998C>T
  • NM_001407861.1:c.998C>T
  • NM_001407862.1:c.800C>T
  • NM_001407863.1:c.878C>T
  • NM_001407874.1:c.797C>T
  • NM_001407875.1:c.797C>T
  • NM_001407879.1:c.791C>T
  • NM_001407881.1:c.791C>T
  • NM_001407882.1:c.791C>T
  • NM_001407884.1:c.791C>T
  • NM_001407885.1:c.791C>T
  • NM_001407886.1:c.791C>T
  • NM_001407887.1:c.791C>T
  • NM_001407889.1:c.791C>T
  • NM_001407894.1:c.788C>T
  • NM_001407895.1:c.788C>T
  • NM_001407896.1:c.788C>T
  • NM_001407897.1:c.788C>T
  • NM_001407898.1:c.788C>T
  • NM_001407899.1:c.788C>T
  • NM_001407900.1:c.791C>T
  • NM_001407902.1:c.791C>T
  • NM_001407904.1:c.791C>T
  • NM_001407906.1:c.791C>T
  • NM_001407907.1:c.791C>T
  • NM_001407908.1:c.791C>T
  • NM_001407909.1:c.791C>T
  • NM_001407910.1:c.791C>T
  • NM_001407915.1:c.788C>T
  • NM_001407916.1:c.788C>T
  • NM_001407917.1:c.788C>T
  • NM_001407918.1:c.788C>T
  • NM_001407919.1:c.878C>T
  • NM_001407920.1:c.737C>T
  • NM_001407921.1:c.737C>T
  • NM_001407922.1:c.737C>T
  • NM_001407923.1:c.737C>T
  • NM_001407924.1:c.737C>T
  • NM_001407925.1:c.737C>T
  • NM_001407926.1:c.737C>T
  • NM_001407927.1:c.737C>T
  • NM_001407928.1:c.737C>T
  • NM_001407929.1:c.737C>T
  • NM_001407930.1:c.734C>T
  • NM_001407931.1:c.734C>T
  • NM_001407932.1:c.734C>T
  • NM_001407933.1:c.737C>T
  • NM_001407934.1:c.734C>T
  • NM_001407935.1:c.737C>T
  • NM_001407936.1:c.734C>T
  • NM_001407937.1:c.878C>T
  • NM_001407938.1:c.878C>T
  • NM_001407939.1:c.878C>T
  • NM_001407940.1:c.875C>T
  • NM_001407941.1:c.875C>T
  • NM_001407942.1:c.860C>T
  • NM_001407943.1:c.857C>T
  • NM_001407944.1:c.860C>T
  • NM_001407945.1:c.860C>T
  • NM_001407946.1:c.668C>T
  • NM_001407947.1:c.668C>T
  • NM_001407948.1:c.668C>T
  • NM_001407949.1:c.668C>T
  • NM_001407950.1:c.668C>T
  • NM_001407951.1:c.668C>T
  • NM_001407952.1:c.668C>T
  • NM_001407953.1:c.668C>T
  • NM_001407954.1:c.665C>T
  • NM_001407955.1:c.665C>T
  • NM_001407956.1:c.665C>T
  • NM_001407957.1:c.668C>T
  • NM_001407958.1:c.665C>T
  • NM_001407959.1:c.620C>T
  • NM_001407960.1:c.620C>T
  • NM_001407962.1:c.617C>T
  • NM_001407963.1:c.620C>T
  • NM_001407964.1:c.857C>T
  • NM_001407965.1:c.497C>T
  • NM_001407966.1:c.113C>T
  • NM_001407967.1:c.113C>T
  • NM_001407968.1:c.787+214C>T
  • NM_001407969.1:c.787+214C>T
  • NM_001407970.1:c.787+214C>T
  • NM_001407971.1:c.787+214C>T
  • NM_001407972.1:c.784+214C>T
  • NM_001407973.1:c.787+214C>T
  • NM_001407974.1:c.787+214C>T
  • NM_001407975.1:c.787+214C>T
  • NM_001407976.1:c.787+214C>T
  • NM_001407977.1:c.787+214C>T
  • NM_001407978.1:c.787+214C>T
  • NM_001407979.1:c.787+214C>T
  • NM_001407980.1:c.787+214C>T
  • NM_001407981.1:c.787+214C>T
  • NM_001407982.1:c.787+214C>T
  • NM_001407983.1:c.787+214C>T
  • NM_001407984.1:c.784+214C>T
  • NM_001407985.1:c.784+214C>T
  • NM_001407986.1:c.784+214C>T
  • NM_001407990.1:c.787+214C>T
  • NM_001407991.1:c.784+214C>T
  • NM_001407992.1:c.784+214C>T
  • NM_001407993.1:c.787+214C>T
  • NM_001408392.1:c.784+214C>T
  • NM_001408396.1:c.784+214C>T
  • NM_001408397.1:c.784+214C>T
  • NM_001408398.1:c.784+214C>T
  • NM_001408399.1:c.784+214C>T
  • NM_001408400.1:c.784+214C>T
  • NM_001408401.1:c.784+214C>T
  • NM_001408402.1:c.784+214C>T
  • NM_001408403.1:c.787+214C>T
  • NM_001408404.1:c.787+214C>T
  • NM_001408406.1:c.790+211C>T
  • NM_001408407.1:c.784+214C>T
  • NM_001408408.1:c.778+214C>T
  • NM_001408409.1:c.709+214C>T
  • NM_001408410.1:c.646+214C>T
  • NM_001408411.1:c.709+214C>T
  • NM_001408412.1:c.709+214C>T
  • NM_001408413.1:c.706+214C>T
  • NM_001408414.1:c.709+214C>T
  • NM_001408415.1:c.709+214C>T
  • NM_001408416.1:c.706+214C>T
  • NM_001408418.1:c.670+1316C>T
  • NM_001408419.1:c.670+1316C>T
  • NM_001408420.1:c.670+1316C>T
  • NM_001408421.1:c.667+1316C>T
  • NM_001408422.1:c.670+1316C>T
  • NM_001408423.1:c.670+1316C>T
  • NM_001408424.1:c.667+1316C>T
  • NM_001408425.1:c.664+214C>T
  • NM_001408426.1:c.664+214C>T
  • NM_001408427.1:c.664+214C>T
  • NM_001408428.1:c.664+214C>T
  • NM_001408429.1:c.664+214C>T
  • NM_001408430.1:c.664+214C>T
  • NM_001408431.1:c.667+1316C>T
  • NM_001408432.1:c.661+214C>T
  • NM_001408433.1:c.661+214C>T
  • NM_001408434.1:c.661+214C>T
  • NM_001408435.1:c.661+214C>T
  • NM_001408436.1:c.664+214C>T
  • NM_001408437.1:c.664+214C>T
  • NM_001408438.1:c.664+214C>T
  • NM_001408439.1:c.664+214C>T
  • NM_001408440.1:c.664+214C>T
  • NM_001408441.1:c.664+214C>T
  • NM_001408442.1:c.664+214C>T
  • NM_001408443.1:c.664+214C>T
  • NM_001408444.1:c.664+214C>T
  • NM_001408445.1:c.661+214C>T
  • NM_001408446.1:c.661+214C>T
  • NM_001408447.1:c.661+214C>T
  • NM_001408448.1:c.661+214C>T
  • NM_001408450.1:c.661+214C>T
  • NM_001408451.1:c.652+214C>T
  • NM_001408452.1:c.646+214C>T
  • NM_001408453.1:c.646+214C>T
  • NM_001408454.1:c.646+214C>T
  • NM_001408455.1:c.646+214C>T
  • NM_001408456.1:c.646+214C>T
  • NM_001408457.1:c.646+214C>T
  • NM_001408458.1:c.646+214C>T
  • NM_001408459.1:c.646+214C>T
  • NM_001408460.1:c.646+214C>T
  • NM_001408461.1:c.646+214C>T
  • NM_001408462.1:c.643+214C>T
  • NM_001408463.1:c.643+214C>T
  • NM_001408464.1:c.643+214C>T
  • NM_001408465.1:c.643+214C>T
  • NM_001408466.1:c.646+214C>T
  • NM_001408467.1:c.646+214C>T
  • NM_001408468.1:c.643+214C>T
  • NM_001408469.1:c.646+214C>T
  • NM_001408470.1:c.643+214C>T
  • NM_001408472.1:c.787+214C>T
  • NM_001408473.1:c.784+214C>T
  • NM_001408474.1:c.586+214C>T
  • NM_001408475.1:c.583+214C>T
  • NM_001408476.1:c.586+214C>T
  • NM_001408478.1:c.577+214C>T
  • NM_001408479.1:c.577+214C>T
  • NM_001408480.1:c.577+214C>T
  • NM_001408481.1:c.577+214C>T
  • NM_001408482.1:c.577+214C>T
  • NM_001408483.1:c.577+214C>T
  • NM_001408484.1:c.577+214C>T
  • NM_001408485.1:c.577+214C>T
  • NM_001408489.1:c.577+214C>T
  • NM_001408490.1:c.574+214C>T
  • NM_001408491.1:c.574+214C>T
  • NM_001408492.1:c.577+214C>T
  • NM_001408493.1:c.574+214C>T
  • NM_001408494.1:c.548-3498C>T
  • NM_001408495.1:c.545-3498C>T
  • NM_001408496.1:c.523+214C>T
  • NM_001408497.1:c.523+214C>T
  • NM_001408498.1:c.523+214C>T
  • NM_001408499.1:c.523+214C>T
  • NM_001408500.1:c.523+214C>T
  • NM_001408501.1:c.523+214C>T
  • NM_001408502.1:c.454+214C>T
  • NM_001408503.1:c.520+214C>T
  • NM_001408504.1:c.520+214C>T
  • NM_001408505.1:c.520+214C>T
  • NM_001408506.1:c.460+1316C>T
  • NM_001408507.1:c.460+1316C>T
  • NM_001408508.1:c.451+214C>T
  • NM_001408509.1:c.451+214C>T
  • NM_001408510.1:c.406+214C>T
  • NM_001408511.1:c.404-3498C>T
  • NM_001408512.1:c.283+214C>T
  • NM_001408513.1:c.577+214C>T
  • NM_001408514.1:c.577+214C>T
  • NM_007294.4:c.1001C>TMANE SELECT
  • NM_007297.4:c.860C>T
  • NM_007298.4:c.787+214C>T
  • NM_007299.4:c.787+214C>T
  • NM_007300.4:c.1001C>T
  • NP_001394500.1:p.Pro263Leu
  • NP_001394510.1:p.Pro334Leu
  • NP_001394511.1:p.Pro334Leu
  • NP_001394512.1:p.Pro334Leu
  • NP_001394514.1:p.Pro334Leu
  • NP_001394516.1:p.Pro333Leu
  • NP_001394519.1:p.Pro333Leu
  • NP_001394520.1:p.Pro333Leu
  • NP_001394522.1:p.Pro334Leu
  • NP_001394523.1:p.Pro334Leu
  • NP_001394525.1:p.Pro334Leu
  • NP_001394526.1:p.Pro334Leu
  • NP_001394527.1:p.Pro334Leu
  • NP_001394531.1:p.Pro334Leu
  • NP_001394532.1:p.Pro334Leu
  • NP_001394534.1:p.Pro334Leu
  • NP_001394539.1:p.Pro333Leu
  • NP_001394540.1:p.Pro333Leu
  • NP_001394541.1:p.Pro333Leu
  • NP_001394542.1:p.Pro333Leu
  • NP_001394543.1:p.Pro333Leu
  • NP_001394544.1:p.Pro333Leu
  • NP_001394545.1:p.Pro334Leu
  • NP_001394546.1:p.Pro334Leu
  • NP_001394547.1:p.Pro334Leu
  • NP_001394548.1:p.Pro334Leu
  • NP_001394549.1:p.Pro334Leu
  • NP_001394550.1:p.Pro334Leu
  • NP_001394551.1:p.Pro334Leu
  • NP_001394552.1:p.Pro334Leu
  • NP_001394553.1:p.Pro334Leu
  • NP_001394554.1:p.Pro334Leu
  • NP_001394555.1:p.Pro334Leu
  • NP_001394556.1:p.Pro333Leu
  • NP_001394557.1:p.Pro333Leu
  • NP_001394558.1:p.Pro333Leu
  • NP_001394559.1:p.Pro333Leu
  • NP_001394560.1:p.Pro333Leu
  • NP_001394561.1:p.Pro333Leu
  • NP_001394562.1:p.Pro333Leu
  • NP_001394563.1:p.Pro333Leu
  • NP_001394564.1:p.Pro333Leu
  • NP_001394565.1:p.Pro333Leu
  • NP_001394566.1:p.Pro333Leu
  • NP_001394567.1:p.Pro333Leu
  • NP_001394568.1:p.Pro334Leu
  • NP_001394569.1:p.Pro334Leu
  • NP_001394570.1:p.Pro334Leu
  • NP_001394571.1:p.Pro334Leu
  • NP_001394573.1:p.Pro333Leu
  • NP_001394574.1:p.Pro333Leu
  • NP_001394575.1:p.Pro331Leu
  • NP_001394576.1:p.Pro331Leu
  • NP_001394577.1:p.Pro293Leu
  • NP_001394578.1:p.Pro292Leu
  • NP_001394581.1:p.Pro334Leu
  • NP_001394582.1:p.Pro308Leu
  • NP_001394583.1:p.Pro308Leu
  • NP_001394584.1:p.Pro308Leu
  • NP_001394585.1:p.Pro308Leu
  • NP_001394586.1:p.Pro308Leu
  • NP_001394587.1:p.Pro308Leu
  • NP_001394588.1:p.Pro307Leu
  • NP_001394589.1:p.Pro307Leu
  • NP_001394590.1:p.Pro307Leu
  • NP_001394591.1:p.Pro307Leu
  • NP_001394592.1:p.Pro308Leu
  • NP_001394593.1:p.Pro293Leu
  • NP_001394594.1:p.Pro293Leu
  • NP_001394595.1:p.Pro293Leu
  • NP_001394596.1:p.Pro293Leu
  • NP_001394597.1:p.Pro293Leu
  • NP_001394598.1:p.Pro293Leu
  • NP_001394599.1:p.Pro292Leu
  • NP_001394600.1:p.Pro292Leu
  • NP_001394601.1:p.Pro292Leu
  • NP_001394602.1:p.Pro292Leu
  • NP_001394603.1:p.Pro293Leu
  • NP_001394604.1:p.Pro293Leu
  • NP_001394605.1:p.Pro293Leu
  • NP_001394606.1:p.Pro293Leu
  • NP_001394607.1:p.Pro293Leu
  • NP_001394608.1:p.Pro293Leu
  • NP_001394609.1:p.Pro293Leu
  • NP_001394610.1:p.Pro293Leu
  • NP_001394611.1:p.Pro293Leu
  • NP_001394612.1:p.Pro293Leu
  • NP_001394613.1:p.Pro334Leu
  • NP_001394614.1:p.Pro292Leu
  • NP_001394615.1:p.Pro292Leu
  • NP_001394616.1:p.Pro292Leu
  • NP_001394617.1:p.Pro292Leu
  • NP_001394618.1:p.Pro292Leu
  • NP_001394619.1:p.Pro292Leu
  • NP_001394620.1:p.Pro292Leu
  • NP_001394621.1:p.Pro287Leu
  • NP_001394623.1:p.Pro287Leu
  • NP_001394624.1:p.Pro287Leu
  • NP_001394625.1:p.Pro287Leu
  • NP_001394626.1:p.Pro287Leu
  • NP_001394627.1:p.Pro287Leu
  • NP_001394653.1:p.Pro287Leu
  • NP_001394654.1:p.Pro287Leu
  • NP_001394655.1:p.Pro287Leu
  • NP_001394656.1:p.Pro287Leu
  • NP_001394657.1:p.Pro287Leu
  • NP_001394658.1:p.Pro287Leu
  • NP_001394659.1:p.Pro287Leu
  • NP_001394660.1:p.Pro287Leu
  • NP_001394661.1:p.Pro287Leu
  • NP_001394662.1:p.Pro287Leu
  • NP_001394663.1:p.Pro287Leu
  • NP_001394664.1:p.Pro287Leu
  • NP_001394665.1:p.Pro287Leu
  • NP_001394666.1:p.Pro287Leu
  • NP_001394667.1:p.Pro287Leu
  • NP_001394668.1:p.Pro287Leu
  • NP_001394669.1:p.Pro286Leu
  • NP_001394670.1:p.Pro286Leu
  • NP_001394671.1:p.Pro286Leu
  • NP_001394672.1:p.Pro286Leu
  • NP_001394673.1:p.Pro286Leu
  • NP_001394674.1:p.Pro286Leu
  • NP_001394675.1:p.Pro286Leu
  • NP_001394676.1:p.Pro286Leu
  • NP_001394677.1:p.Pro286Leu
  • NP_001394678.1:p.Pro286Leu
  • NP_001394679.1:p.Pro287Leu
  • NP_001394680.1:p.Pro287Leu
  • NP_001394681.1:p.Pro287Leu
  • NP_001394767.1:p.Pro286Leu
  • NP_001394768.1:p.Pro286Leu
  • NP_001394770.1:p.Pro286Leu
  • NP_001394771.1:p.Pro286Leu
  • NP_001394772.1:p.Pro286Leu
  • NP_001394773.1:p.Pro286Leu
  • NP_001394774.1:p.Pro286Leu
  • NP_001394775.1:p.Pro286Leu
  • NP_001394776.1:p.Pro286Leu
  • NP_001394777.1:p.Pro286Leu
  • NP_001394778.1:p.Pro286Leu
  • NP_001394779.1:p.Pro287Leu
  • NP_001394780.1:p.Pro287Leu
  • NP_001394781.1:p.Pro287Leu
  • NP_001394782.1:p.Pro263Leu
  • NP_001394783.1:p.Pro334Leu
  • NP_001394787.1:p.Pro334Leu
  • NP_001394788.1:p.Pro334Leu
  • NP_001394789.1:p.Pro333Leu
  • NP_001394790.1:p.Pro333Leu
  • NP_001394791.1:p.Pro267Leu
  • NP_001394792.1:p.Pro293Leu
  • NP_001394803.1:p.Pro266Leu
  • NP_001394804.1:p.Pro266Leu
  • NP_001394808.1:p.Pro264Leu
  • NP_001394810.1:p.Pro264Leu
  • NP_001394811.1:p.Pro264Leu
  • NP_001394813.1:p.Pro264Leu
  • NP_001394814.1:p.Pro264Leu
  • NP_001394815.1:p.Pro264Leu
  • NP_001394816.1:p.Pro264Leu
  • NP_001394818.1:p.Pro264Leu
  • NP_001394823.1:p.Pro263Leu
  • NP_001394824.1:p.Pro263Leu
  • NP_001394825.1:p.Pro263Leu
  • NP_001394826.1:p.Pro263Leu
  • NP_001394827.1:p.Pro263Leu
  • NP_001394828.1:p.Pro263Leu
  • NP_001394829.1:p.Pro264Leu
  • NP_001394831.1:p.Pro264Leu
  • NP_001394833.1:p.Pro264Leu
  • NP_001394835.1:p.Pro264Leu
  • NP_001394836.1:p.Pro264Leu
  • NP_001394837.1:p.Pro264Leu
  • NP_001394838.1:p.Pro264Leu
  • NP_001394839.1:p.Pro264Leu
  • NP_001394844.1:p.Pro263Leu
  • NP_001394845.1:p.Pro263Leu
  • NP_001394846.1:p.Pro263Leu
  • NP_001394847.1:p.Pro263Leu
  • NP_001394848.1:p.Pro293Leu
  • NP_001394849.1:p.Pro246Leu
  • NP_001394850.1:p.Pro246Leu
  • NP_001394851.1:p.Pro246Leu
  • NP_001394852.1:p.Pro246Leu
  • NP_001394853.1:p.Pro246Leu
  • NP_001394854.1:p.Pro246Leu
  • NP_001394855.1:p.Pro246Leu
  • NP_001394856.1:p.Pro246Leu
  • NP_001394857.1:p.Pro246Leu
  • NP_001394858.1:p.Pro246Leu
  • NP_001394859.1:p.Pro245Leu
  • NP_001394860.1:p.Pro245Leu
  • NP_001394861.1:p.Pro245Leu
  • NP_001394862.1:p.Pro246Leu
  • NP_001394863.1:p.Pro245Leu
  • NP_001394864.1:p.Pro246Leu
  • NP_001394865.1:p.Pro245Leu
  • NP_001394866.1:p.Pro293Leu
  • NP_001394867.1:p.Pro293Leu
  • NP_001394868.1:p.Pro293Leu
  • NP_001394869.1:p.Pro292Leu
  • NP_001394870.1:p.Pro292Leu
  • NP_001394871.1:p.Pro287Leu
  • NP_001394872.1:p.Pro286Leu
  • NP_001394873.1:p.Pro287Leu
  • NP_001394874.1:p.Pro287Leu
  • NP_001394875.1:p.Pro223Leu
  • NP_001394876.1:p.Pro223Leu
  • NP_001394877.1:p.Pro223Leu
  • NP_001394878.1:p.Pro223Leu
  • NP_001394879.1:p.Pro223Leu
  • NP_001394880.1:p.Pro223Leu
  • NP_001394881.1:p.Pro223Leu
  • NP_001394882.1:p.Pro223Leu
  • NP_001394883.1:p.Pro222Leu
  • NP_001394884.1:p.Pro222Leu
  • NP_001394885.1:p.Pro222Leu
  • NP_001394886.1:p.Pro223Leu
  • NP_001394887.1:p.Pro222Leu
  • NP_001394888.1:p.Pro207Leu
  • NP_001394889.1:p.Pro207Leu
  • NP_001394891.1:p.Pro206Leu
  • NP_001394892.1:p.Pro207Leu
  • NP_001394893.1:p.Pro286Leu
  • NP_001394894.1:p.Pro166Leu
  • NP_001394895.1:p.Pro38Leu
  • NP_001394896.1:p.Pro38Leu
  • NP_009225.1:p.Pro334Leu
  • NP_009225.1:p.Pro334Leu
  • NP_009228.2:p.Pro287Leu
  • NP_009231.2:p.Pro334Leu
  • LRG_292t1:c.1001C>T
  • LRG_292:g.123454C>T
  • LRG_292p1:p.Pro334Leu
  • NC_000017.10:g.41246547G>A
  • NM_007294.3:c.1001C>T
  • NR_027676.1:n.1137C>T
  • U14680.1:n.1120C>T
  • p.P334L
Protein change:
P166L
Links:
BRCA1-HCI: BRCA1_00060; dbSNP: rs41286290
NCBI 1000 Genomes Browser:
rs41286290
Molecular consequence:
  • NM_001407968.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+211C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3498C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3498C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1316C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3498C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+214C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.920C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.923C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.791C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.737C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.875C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.668C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.665C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.857C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.113C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.860C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000209918GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Mar 9, 2021) 		germlineclinical testing

Citation Link,

SCV000698824Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Apr 24, 2017) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001501182CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Jul 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Assessment of functional effects of unclassified genetic variants.

Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group..

Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899.

PubMed [citation]
PMID:
18951449
PMCID:
PMC2771414

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]
PMID:
21990134
PMCID:
PMC3242438
See all PubMed Citations (10)

Details of each submission

From GeneDx, SCV000209918.10

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

Description

This variant is associated with the following publications: (PMID: 17924331, 19471317, 21990134, 18824701, 22753008, 18273839, 16267036, 23893897, 25348012, 18703817, 22045683)

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698824.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

Variant summary: The BRCA1 c.1001C>T (p.Pro334Leu) variant involves the alteration of a non-conserved nucleotide and is predicted to be damaging by 3/5 in silico tools. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of multiple ESE sites. Functional studies show the variant to not affect splicing (Anczukow_2008, Caux-Moncoutier_2009). This variant was found in 2/121404 control chromosomes from ExAC at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005); however, it could still be a rare polymorphism. The variant has been reported in multiple affected individuals via publications and databases, including co-occurrence with other BRCA1 pathogenic variants in other allele (in trans), 2120insA (Judkins_2005), c.66_67delAG (BIC), and an unspecified deleterious variant (Spearman_2008), strongly supporting for benign outcome. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.

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

From CeGaT Center for Human Genetics Tuebingen, SCV001501182.22

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024