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NM_007294.4(BRCA1):c.93C>G (p.Ile31Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 8, 2016
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:
RCV000588671.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)]

NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)

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.93C>G (p.Ile31Met)
HGVS:
  • NC_000017.11:g.43115767G>C
  • NG_005905.2:g.102217C>G
  • NM_001407571.1:c.-96C>G
  • NM_001407581.1:c.93C>G
  • NM_001407582.1:c.93C>G
  • NM_001407583.1:c.93C>G
  • NM_001407585.1:c.93C>G
  • NM_001407587.1:c.93C>G
  • NM_001407590.1:c.93C>G
  • NM_001407591.1:c.93C>G
  • NM_001407593.1:c.93C>G
  • NM_001407594.1:c.93C>G
  • NM_001407596.1:c.93C>G
  • NM_001407597.1:c.93C>G
  • NM_001407598.1:c.93C>G
  • NM_001407602.1:c.93C>G
  • NM_001407603.1:c.93C>G
  • NM_001407605.1:c.93C>G
  • NM_001407610.1:c.93C>G
  • NM_001407611.1:c.93C>G
  • NM_001407612.1:c.93C>G
  • NM_001407613.1:c.93C>G
  • NM_001407614.1:c.93C>G
  • NM_001407615.1:c.93C>G
  • NM_001407616.1:c.93C>G
  • NM_001407617.1:c.93C>G
  • NM_001407618.1:c.93C>G
  • NM_001407619.1:c.93C>G
  • NM_001407620.1:c.93C>G
  • NM_001407621.1:c.93C>G
  • NM_001407622.1:c.93C>G
  • NM_001407623.1:c.93C>G
  • NM_001407624.1:c.93C>G
  • NM_001407625.1:c.93C>G
  • NM_001407626.1:c.93C>G
  • NM_001407627.1:c.93C>G
  • NM_001407628.1:c.93C>G
  • NM_001407629.1:c.93C>G
  • NM_001407630.1:c.93C>G
  • NM_001407631.1:c.93C>G
  • NM_001407632.1:c.93C>G
  • NM_001407633.1:c.93C>G
  • NM_001407634.1:c.93C>G
  • NM_001407635.1:c.93C>G
  • NM_001407636.1:c.93C>G
  • NM_001407637.1:c.93C>G
  • NM_001407638.1:c.93C>G
  • NM_001407639.1:c.93C>G
  • NM_001407640.1:c.93C>G
  • NM_001407641.1:c.93C>G
  • NM_001407642.1:c.93C>G
  • NM_001407644.1:c.93C>G
  • NM_001407645.1:c.93C>G
  • NM_001407646.1:c.93C>G
  • NM_001407647.1:c.93C>G
  • NM_001407648.1:c.93C>G
  • NM_001407649.1:c.93C>G
  • NM_001407652.1:c.93C>G
  • NM_001407653.1:c.93C>G
  • NM_001407654.1:c.93C>G
  • NM_001407655.1:c.93C>G
  • NM_001407656.1:c.93C>G
  • NM_001407657.1:c.93C>G
  • NM_001407658.1:c.93C>G
  • NM_001407659.1:c.93C>G
  • NM_001407660.1:c.93C>G
  • NM_001407661.1:c.93C>G
  • NM_001407662.1:c.93C>G
  • NM_001407663.1:c.93C>G
  • NM_001407664.1:c.93C>G
  • NM_001407665.1:c.93C>G
  • NM_001407666.1:c.93C>G
  • NM_001407667.1:c.93C>G
  • NM_001407668.1:c.93C>G
  • NM_001407669.1:c.93C>G
  • NM_001407670.1:c.93C>G
  • NM_001407671.1:c.93C>G
  • NM_001407672.1:c.93C>G
  • NM_001407673.1:c.93C>G
  • NM_001407674.1:c.93C>G
  • NM_001407675.1:c.93C>G
  • NM_001407676.1:c.93C>G
  • NM_001407677.1:c.93C>G
  • NM_001407678.1:c.93C>G
  • NM_001407679.1:c.93C>G
  • NM_001407680.1:c.93C>G
  • NM_001407681.1:c.93C>G
  • NM_001407682.1:c.93C>G
  • NM_001407683.1:c.93C>G
  • NM_001407684.1:c.93C>G
  • NM_001407685.1:c.93C>G
  • NM_001407686.1:c.93C>G
  • NM_001407687.1:c.93C>G
  • NM_001407688.1:c.93C>G
  • NM_001407689.1:c.93C>G
  • NM_001407690.1:c.93C>G
  • NM_001407691.1:c.93C>G
  • NM_001407694.1:c.-165C>G
  • NM_001407695.1:c.-169C>G
  • NM_001407696.1:c.-165C>G
  • NM_001407697.1:c.-49C>G
  • NM_001407724.1:c.-165C>G
  • NM_001407725.1:c.-49C>G
  • NM_001407727.1:c.-165C>G
  • NM_001407728.1:c.-49C>G
  • NM_001407729.1:c.-49C>G
  • NM_001407730.1:c.-49C>G
  • NM_001407731.1:c.-165C>G
  • NM_001407733.1:c.-165C>G
  • NM_001407734.1:c.-49C>G
  • NM_001407735.1:c.-49C>G
  • NM_001407737.1:c.-49C>G
  • NM_001407739.1:c.-49C>G
  • NM_001407740.1:c.-49C>G
  • NM_001407741.1:c.-49C>G
  • NM_001407743.1:c.-49C>G
  • NM_001407745.1:c.-49C>G
  • NM_001407746.1:c.-165C>G
  • NM_001407748.1:c.-49C>G
  • NM_001407749.1:c.-165C>G
  • NM_001407752.1:c.-49C>G
  • NM_001407838.1:c.-49C>G
  • NM_001407839.1:c.-49C>G
  • NM_001407841.1:c.-45C>G
  • NM_001407842.1:c.-165C>G
  • NM_001407843.1:c.-165C>G
  • NM_001407844.1:c.-49C>G
  • NM_001407846.1:c.-49C>G
  • NM_001407847.1:c.-49C>G
  • NM_001407848.1:c.-49C>G
  • NM_001407850.1:c.-49C>G
  • NM_001407851.1:c.-49C>G
  • NM_001407853.1:c.-96C>G
  • NM_001407854.1:c.93C>G
  • NM_001407858.1:c.93C>G
  • NM_001407859.1:c.93C>G
  • NM_001407860.1:c.93C>G
  • NM_001407861.1:c.93C>G
  • NM_001407862.1:c.93C>G
  • NM_001407863.1:c.93C>G
  • NM_001407874.1:c.93C>G
  • NM_001407875.1:c.93C>G
  • NM_001407879.1:c.-96C>G
  • NM_001407882.1:c.-96C>G
  • NM_001407884.1:c.-96C>G
  • NM_001407885.1:c.-96C>G
  • NM_001407886.1:c.-96C>G
  • NM_001407887.1:c.-96C>G
  • NM_001407889.1:c.-212C>G
  • NM_001407894.1:c.-96C>G
  • NM_001407895.1:c.-96C>G
  • NM_001407896.1:c.-96C>G
  • NM_001407897.1:c.-96C>G
  • NM_001407899.1:c.-96C>G
  • NM_001407900.1:c.-212C>G
  • NM_001407904.1:c.-96C>G
  • NM_001407906.1:c.-96C>G
  • NM_001407907.1:c.-96C>G
  • NM_001407908.1:c.-96C>G
  • NM_001407909.1:c.-96C>G
  • NM_001407910.1:c.-96C>G
  • NM_001407915.1:c.-96C>G
  • NM_001407916.1:c.-96C>G
  • NM_001407917.1:c.-96C>G
  • NM_001407918.1:c.-96C>G
  • NM_001407919.1:c.93C>G
  • NM_001407920.1:c.-49C>G
  • NM_001407921.1:c.-49C>G
  • NM_001407922.1:c.-49C>G
  • NM_001407923.1:c.-49C>G
  • NM_001407926.1:c.-49C>G
  • NM_001407927.1:c.-49C>G
  • NM_001407930.1:c.-165C>G
  • NM_001407933.1:c.-49C>G
  • NM_001407934.1:c.-49C>G
  • NM_001407935.1:c.-49C>G
  • NM_001407937.1:c.93C>G
  • NM_001407938.1:c.93C>G
  • NM_001407939.1:c.93C>G
  • NM_001407940.1:c.93C>G
  • NM_001407941.1:c.93C>G
  • NM_001407942.1:c.-165C>G
  • NM_001407943.1:c.-49C>G
  • NM_001407944.1:c.-49C>G
  • NM_001407946.1:c.-96C>G
  • NM_001407947.1:c.-96C>G
  • NM_001407948.1:c.-96C>G
  • NM_001407949.1:c.-96C>G
  • NM_001407950.1:c.-96C>G
  • NM_001407951.1:c.-96C>G
  • NM_001407952.1:c.-96C>G
  • NM_001407953.1:c.-96C>G
  • NM_001407954.1:c.-96C>G
  • NM_001407955.1:c.-96C>G
  • NM_001407956.1:c.-96C>G
  • NM_001407957.1:c.-96C>G
  • NM_001407958.1:c.-96C>G
  • NM_001407960.1:c.-211C>G
  • NM_001407962.1:c.-211C>G
  • NM_001407964.1:c.-49C>G
  • NM_001407965.1:c.-327C>G
  • NM_001407968.1:c.93C>G
  • NM_001407969.1:c.93C>G
  • NM_001407970.1:c.93C>G
  • NM_001407971.1:c.93C>G
  • NM_001407972.1:c.93C>G
  • NM_001407973.1:c.93C>G
  • NM_001407974.1:c.93C>G
  • NM_001407975.1:c.93C>G
  • NM_001407976.1:c.93C>G
  • NM_001407977.1:c.93C>G
  • NM_001407978.1:c.93C>G
  • NM_001407979.1:c.93C>G
  • NM_001407980.1:c.93C>G
  • NM_001407981.1:c.93C>G
  • NM_001407982.1:c.93C>G
  • NM_001407983.1:c.93C>G
  • NM_001407984.1:c.93C>G
  • NM_001407985.1:c.93C>G
  • NM_001407986.1:c.93C>G
  • NM_001407990.1:c.93C>G
  • NM_001407991.1:c.93C>G
  • NM_001407992.1:c.93C>G
  • NM_001407993.1:c.93C>G
  • NM_001408392.1:c.93C>G
  • NM_001408396.1:c.93C>G
  • NM_001408397.1:c.93C>G
  • NM_001408398.1:c.93C>G
  • NM_001408399.1:c.93C>G
  • NM_001408400.1:c.93C>G
  • NM_001408401.1:c.93C>G
  • NM_001408402.1:c.93C>G
  • NM_001408403.1:c.93C>G
  • NM_001408404.1:c.93C>G
  • NM_001408406.1:c.93C>G
  • NM_001408407.1:c.93C>G
  • NM_001408408.1:c.93C>G
  • NM_001408409.1:c.93C>G
  • NM_001408410.1:c.-49C>G
  • NM_001408411.1:c.93C>G
  • NM_001408412.1:c.93C>G
  • NM_001408413.1:c.93C>G
  • NM_001408414.1:c.93C>G
  • NM_001408415.1:c.93C>G
  • NM_001408416.1:c.93C>G
  • NM_001408418.1:c.93C>G
  • NM_001408419.1:c.93C>G
  • NM_001408420.1:c.93C>G
  • NM_001408421.1:c.93C>G
  • NM_001408422.1:c.93C>G
  • NM_001408423.1:c.93C>G
  • NM_001408424.1:c.93C>G
  • NM_001408425.1:c.93C>G
  • NM_001408426.1:c.93C>G
  • NM_001408427.1:c.93C>G
  • NM_001408428.1:c.93C>G
  • NM_001408429.1:c.93C>G
  • NM_001408430.1:c.93C>G
  • NM_001408431.1:c.93C>G
  • NM_001408432.1:c.93C>G
  • NM_001408433.1:c.93C>G
  • NM_001408434.1:c.93C>G
  • NM_001408435.1:c.93C>G
  • NM_001408436.1:c.93C>G
  • NM_001408437.1:c.93C>G
  • NM_001408438.1:c.93C>G
  • NM_001408439.1:c.93C>G
  • NM_001408440.1:c.93C>G
  • NM_001408441.1:c.93C>G
  • NM_001408442.1:c.93C>G
  • NM_001408443.1:c.93C>G
  • NM_001408444.1:c.93C>G
  • NM_001408445.1:c.93C>G
  • NM_001408446.1:c.93C>G
  • NM_001408447.1:c.93C>G
  • NM_001408448.1:c.93C>G
  • NM_001408450.1:c.93C>G
  • NM_001408452.1:c.-49C>G
  • NM_001408453.1:c.-49C>G
  • NM_001408455.1:c.-165C>G
  • NM_001408456.1:c.-165C>G
  • NM_001408458.1:c.-49C>G
  • NM_001408462.1:c.-49C>G
  • NM_001408463.1:c.-49C>G
  • NM_001408465.1:c.-169C>G
  • NM_001408466.1:c.-49C>G
  • NM_001408468.1:c.-165C>G
  • NM_001408469.1:c.-49C>G
  • NM_001408470.1:c.-49C>G
  • NM_001408472.1:c.93C>G
  • NM_001408473.1:c.93C>G
  • NM_001408474.1:c.93C>G
  • NM_001408475.1:c.93C>G
  • NM_001408476.1:c.93C>G
  • NM_001408478.1:c.-96C>G
  • NM_001408479.1:c.-96C>G
  • NM_001408480.1:c.-96C>G
  • NM_001408481.1:c.-96C>G
  • NM_001408482.1:c.-96C>G
  • NM_001408483.1:c.-96C>G
  • NM_001408484.1:c.-96C>G
  • NM_001408485.1:c.-96C>G
  • NM_001408489.1:c.-96C>G
  • NM_001408490.1:c.-96C>G
  • NM_001408491.1:c.-96C>G
  • NM_001408492.1:c.-212C>G
  • NM_001408493.1:c.-96C>G
  • NM_001408494.1:c.93C>G
  • NM_001408495.1:c.93C>G
  • NM_001408497.1:c.-49C>G
  • NM_001408499.1:c.-49C>G
  • NM_001408500.1:c.-49C>G
  • NM_001408501.1:c.-165C>G
  • NM_001408502.1:c.-96C>G
  • NM_001408503.1:c.-49C>G
  • NM_001408504.1:c.-49C>G
  • NM_001408505.1:c.-49C>G
  • NM_001408506.1:c.-96C>G
  • NM_001408507.1:c.-96C>G
  • NM_001408508.1:c.-96C>G
  • NM_001408509.1:c.-96C>G
  • NM_001408510.1:c.-211C>G
  • NM_001408512.1:c.-211C>G
  • NM_001408513.1:c.-96C>G
  • NM_001408514.1:c.-96C>G
  • NM_007294.4:c.93C>GMANE SELECT
  • NM_007297.4:c.-8+8250C>G
  • NM_007298.4:c.93C>G
  • NM_007299.4:c.93C>G
  • NM_007300.4:c.93C>G
  • NM_007304.2:c.93C>G
  • NP_001394510.1:p.Ile31Met
  • NP_001394511.1:p.Ile31Met
  • NP_001394512.1:p.Ile31Met
  • NP_001394514.1:p.Ile31Met
  • NP_001394516.1:p.Ile31Met
  • NP_001394519.1:p.Ile31Met
  • NP_001394520.1:p.Ile31Met
  • NP_001394522.1:p.Ile31Met
  • NP_001394523.1:p.Ile31Met
  • NP_001394525.1:p.Ile31Met
  • NP_001394526.1:p.Ile31Met
  • NP_001394527.1:p.Ile31Met
  • NP_001394531.1:p.Ile31Met
  • NP_001394532.1:p.Ile31Met
  • NP_001394534.1:p.Ile31Met
  • NP_001394539.1:p.Ile31Met
  • NP_001394540.1:p.Ile31Met
  • NP_001394541.1:p.Ile31Met
  • NP_001394542.1:p.Ile31Met
  • NP_001394543.1:p.Ile31Met
  • NP_001394544.1:p.Ile31Met
  • NP_001394545.1:p.Ile31Met
  • NP_001394546.1:p.Ile31Met
  • NP_001394547.1:p.Ile31Met
  • NP_001394548.1:p.Ile31Met
  • NP_001394549.1:p.Ile31Met
  • NP_001394550.1:p.Ile31Met
  • NP_001394551.1:p.Ile31Met
  • NP_001394552.1:p.Ile31Met
  • NP_001394553.1:p.Ile31Met
  • NP_001394554.1:p.Ile31Met
  • NP_001394555.1:p.Ile31Met
  • NP_001394556.1:p.Ile31Met
  • NP_001394557.1:p.Ile31Met
  • NP_001394558.1:p.Ile31Met
  • NP_001394559.1:p.Ile31Met
  • NP_001394560.1:p.Ile31Met
  • NP_001394561.1:p.Ile31Met
  • NP_001394562.1:p.Ile31Met
  • NP_001394563.1:p.Ile31Met
  • NP_001394564.1:p.Ile31Met
  • NP_001394565.1:p.Ile31Met
  • NP_001394566.1:p.Ile31Met
  • NP_001394567.1:p.Ile31Met
  • NP_001394568.1:p.Ile31Met
  • NP_001394569.1:p.Ile31Met
  • NP_001394570.1:p.Ile31Met
  • NP_001394571.1:p.Ile31Met
  • NP_001394573.1:p.Ile31Met
  • NP_001394574.1:p.Ile31Met
  • NP_001394575.1:p.Ile31Met
  • NP_001394576.1:p.Ile31Met
  • NP_001394577.1:p.Ile31Met
  • NP_001394578.1:p.Ile31Met
  • NP_001394581.1:p.Ile31Met
  • NP_001394582.1:p.Ile31Met
  • NP_001394583.1:p.Ile31Met
  • NP_001394584.1:p.Ile31Met
  • NP_001394585.1:p.Ile31Met
  • NP_001394586.1:p.Ile31Met
  • NP_001394587.1:p.Ile31Met
  • NP_001394588.1:p.Ile31Met
  • NP_001394589.1:p.Ile31Met
  • NP_001394590.1:p.Ile31Met
  • NP_001394591.1:p.Ile31Met
  • NP_001394592.1:p.Ile31Met
  • NP_001394593.1:p.Ile31Met
  • NP_001394594.1:p.Ile31Met
  • NP_001394595.1:p.Ile31Met
  • NP_001394596.1:p.Ile31Met
  • NP_001394597.1:p.Ile31Met
  • NP_001394598.1:p.Ile31Met
  • NP_001394599.1:p.Ile31Met
  • NP_001394600.1:p.Ile31Met
  • NP_001394601.1:p.Ile31Met
  • NP_001394602.1:p.Ile31Met
  • NP_001394603.1:p.Ile31Met
  • NP_001394604.1:p.Ile31Met
  • NP_001394605.1:p.Ile31Met
  • NP_001394606.1:p.Ile31Met
  • NP_001394607.1:p.Ile31Met
  • NP_001394608.1:p.Ile31Met
  • NP_001394609.1:p.Ile31Met
  • NP_001394610.1:p.Ile31Met
  • NP_001394611.1:p.Ile31Met
  • NP_001394612.1:p.Ile31Met
  • NP_001394613.1:p.Ile31Met
  • NP_001394614.1:p.Ile31Met
  • NP_001394615.1:p.Ile31Met
  • NP_001394616.1:p.Ile31Met
  • NP_001394617.1:p.Ile31Met
  • NP_001394618.1:p.Ile31Met
  • NP_001394619.1:p.Ile31Met
  • NP_001394620.1:p.Ile31Met
  • NP_001394783.1:p.Ile31Met
  • NP_001394787.1:p.Ile31Met
  • NP_001394788.1:p.Ile31Met
  • NP_001394789.1:p.Ile31Met
  • NP_001394790.1:p.Ile31Met
  • NP_001394791.1:p.Ile31Met
  • NP_001394792.1:p.Ile31Met
  • NP_001394803.1:p.Ile31Met
  • NP_001394804.1:p.Ile31Met
  • NP_001394848.1:p.Ile31Met
  • NP_001394866.1:p.Ile31Met
  • NP_001394867.1:p.Ile31Met
  • NP_001394868.1:p.Ile31Met
  • NP_001394869.1:p.Ile31Met
  • NP_001394870.1:p.Ile31Met
  • NP_001394897.1:p.Ile31Met
  • NP_001394898.1:p.Ile31Met
  • NP_001394899.1:p.Ile31Met
  • NP_001394900.1:p.Ile31Met
  • NP_001394901.1:p.Ile31Met
  • NP_001394902.1:p.Ile31Met
  • NP_001394903.1:p.Ile31Met
  • NP_001394904.1:p.Ile31Met
  • NP_001394905.1:p.Ile31Met
  • NP_001394906.1:p.Ile31Met
  • NP_001394907.1:p.Ile31Met
  • NP_001394908.1:p.Ile31Met
  • NP_001394909.1:p.Ile31Met
  • NP_001394910.1:p.Ile31Met
  • NP_001394911.1:p.Ile31Met
  • NP_001394912.1:p.Ile31Met
  • NP_001394913.1:p.Ile31Met
  • NP_001394914.1:p.Ile31Met
  • NP_001394915.1:p.Ile31Met
  • NP_001394919.1:p.Ile31Met
  • NP_001394920.1:p.Ile31Met
  • NP_001394921.1:p.Ile31Met
  • NP_001394922.1:p.Ile31Met
  • NP_001395321.1:p.Ile31Met
  • NP_001395325.1:p.Ile31Met
  • NP_001395326.1:p.Ile31Met
  • NP_001395327.1:p.Ile31Met
  • NP_001395328.1:p.Ile31Met
  • NP_001395329.1:p.Ile31Met
  • NP_001395330.1:p.Ile31Met
  • NP_001395331.1:p.Ile31Met
  • NP_001395332.1:p.Ile31Met
  • NP_001395333.1:p.Ile31Met
  • NP_001395335.1:p.Ile31Met
  • NP_001395336.1:p.Ile31Met
  • NP_001395337.1:p.Ile31Met
  • NP_001395338.1:p.Ile31Met
  • NP_001395340.1:p.Ile31Met
  • NP_001395341.1:p.Ile31Met
  • NP_001395342.1:p.Ile31Met
  • NP_001395343.1:p.Ile31Met
  • NP_001395344.1:p.Ile31Met
  • NP_001395345.1:p.Ile31Met
  • NP_001395347.1:p.Ile31Met
  • NP_001395348.1:p.Ile31Met
  • NP_001395349.1:p.Ile31Met
  • NP_001395350.1:p.Ile31Met
  • NP_001395351.1:p.Ile31Met
  • NP_001395352.1:p.Ile31Met
  • NP_001395353.1:p.Ile31Met
  • NP_001395354.1:p.Ile31Met
  • NP_001395355.1:p.Ile31Met
  • NP_001395356.1:p.Ile31Met
  • NP_001395357.1:p.Ile31Met
  • NP_001395358.1:p.Ile31Met
  • NP_001395359.1:p.Ile31Met
  • NP_001395360.1:p.Ile31Met
  • NP_001395361.1:p.Ile31Met
  • NP_001395362.1:p.Ile31Met
  • NP_001395363.1:p.Ile31Met
  • NP_001395364.1:p.Ile31Met
  • NP_001395365.1:p.Ile31Met
  • NP_001395366.1:p.Ile31Met
  • NP_001395367.1:p.Ile31Met
  • NP_001395368.1:p.Ile31Met
  • NP_001395369.1:p.Ile31Met
  • NP_001395370.1:p.Ile31Met
  • NP_001395371.1:p.Ile31Met
  • NP_001395372.1:p.Ile31Met
  • NP_001395373.1:p.Ile31Met
  • NP_001395374.1:p.Ile31Met
  • NP_001395375.1:p.Ile31Met
  • NP_001395376.1:p.Ile31Met
  • NP_001395377.1:p.Ile31Met
  • NP_001395379.1:p.Ile31Met
  • NP_001395401.1:p.Ile31Met
  • NP_001395402.1:p.Ile31Met
  • NP_001395403.1:p.Ile31Met
  • NP_001395404.1:p.Ile31Met
  • NP_001395405.1:p.Ile31Met
  • NP_001395423.1:p.Ile31Met
  • NP_001395424.1:p.Ile31Met
  • NP_009225.1:p.Ile31Met
  • NP_009225.1:p.Ile31Met
  • NP_009229.2:p.Ile31Met
  • NP_009229.2:p.Ile31Met
  • NP_009230.2:p.Ile31Met
  • NP_009231.2:p.Ile31Met
  • NP_009235.2:p.Ile31Met
  • LRG_292t1:c.93C>G
  • LRG_292:g.102217C>G
  • LRG_292p1:p.Ile31Met
  • NC_000017.10:g.41267784G>C
  • NM_007294.3:c.93C>G
  • NM_007298.3:c.93C>G
  • NR_027676.2:n.295C>G
  • U14680.1:n.212C>G
Protein change:
I31M
Links:
dbSNP: rs80357000
NCBI 1000 Genomes Browser:
rs80357000
Molecular consequence:
  • NM_007297.4:c.-8+8250C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.93C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.295C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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
SCV000699320Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 8, 2016) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

Morris JR, Pangon L, Boutell C, Katagiri T, Keep NH, Solomon E.

Hum Mol Genet. 2006 Feb 15;15(4):599-606. Epub 2006 Jan 10.

PubMed [citation]
PMID:
16403807

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

Ransburgh DJ, Chiba N, Ishioka C, Toland AE, Parvin JD.

Cancer Res. 2010 Feb 1;70(3):988-95. doi: 10.1158/0008-5472.CAN-09-2850. Epub 2010 Jan 26.

PubMed [citation]
PMID:
20103620
PMCID:
PMC2943742
See all PubMed Citations (6)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699320.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

Variant summary: The BRCA1 c.93C>G (p.Ile31Met) variant involves the alteration of a non-conserved nucleotide and results in a replacement of an Isoleucine located in the central RING domain of BRCA1 with a Methionine. 2/3 in silico tools predict a damaging outcome (SNPs&GO and mutation taster not captured due to low reliability index) for this substitution. This variant was found in 1/112524 control chromosomes at a frequency of 0.0000089, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). It was reported in three probands from HBOC families, however without co-segregation and co-occurrence information, therefore these occurrences do not allow establishment of a cause effect relationship between the variant and the disease. Functional studies demonstrated the variant to be proficient in BARD1 and UbcH5a binding, to be radiation resistant and to decrease E3 activity of BRCA1. Most importantly, the variant was shown not to have a significant impact on homology directed repair activity of BRCA1 which is essential for its tumor suppressing function. The functional studies indicate the variant to be in the neutral spectrum; however, due to lack of stronger clinical information about variant carries, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

Last Updated: Oct 8, 2024