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NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
Aug 10, 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:
RCV000483759.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)]

NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp)

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.508C>T (p.Arg170Trp)
HGVS:
  • NC_000017.11:g.43099814G>A
  • NG_005905.2:g.118170C>T
  • NM_001407571.1:c.295C>T
  • NM_001407581.1:c.508C>T
  • NM_001407582.1:c.508C>T
  • NM_001407583.1:c.508C>T
  • NM_001407585.1:c.508C>T
  • NM_001407587.1:c.505C>T
  • NM_001407590.1:c.505C>T
  • NM_001407591.1:c.505C>T
  • NM_001407593.1:c.508C>T
  • NM_001407594.1:c.508C>T
  • NM_001407596.1:c.508C>T
  • NM_001407597.1:c.508C>T
  • NM_001407598.1:c.508C>T
  • NM_001407602.1:c.508C>T
  • NM_001407603.1:c.508C>T
  • NM_001407605.1:c.508C>T
  • NM_001407610.1:c.505C>T
  • NM_001407611.1:c.505C>T
  • NM_001407612.1:c.505C>T
  • NM_001407613.1:c.505C>T
  • NM_001407614.1:c.505C>T
  • NM_001407615.1:c.505C>T
  • NM_001407616.1:c.508C>T
  • NM_001407617.1:c.508C>T
  • NM_001407618.1:c.508C>T
  • NM_001407619.1:c.508C>T
  • NM_001407620.1:c.508C>T
  • NM_001407621.1:c.508C>T
  • NM_001407622.1:c.508C>T
  • NM_001407623.1:c.508C>T
  • NM_001407624.1:c.508C>T
  • NM_001407625.1:c.508C>T
  • NM_001407626.1:c.508C>T
  • NM_001407627.1:c.505C>T
  • NM_001407628.1:c.505C>T
  • NM_001407629.1:c.505C>T
  • NM_001407630.1:c.505C>T
  • NM_001407631.1:c.505C>T
  • NM_001407632.1:c.505C>T
  • NM_001407633.1:c.505C>T
  • NM_001407634.1:c.505C>T
  • NM_001407635.1:c.505C>T
  • NM_001407636.1:c.505C>T
  • NM_001407637.1:c.505C>T
  • NM_001407638.1:c.505C>T
  • NM_001407639.1:c.508C>T
  • NM_001407640.1:c.508C>T
  • NM_001407641.1:c.508C>T
  • NM_001407642.1:c.508C>T
  • NM_001407644.1:c.505C>T
  • NM_001407645.1:c.505C>T
  • NM_001407646.1:c.499C>T
  • NM_001407647.1:c.499C>T
  • NM_001407648.1:c.508C>T
  • NM_001407649.1:c.505C>T
  • NM_001407652.1:c.508C>T
  • NM_001407653.1:c.430C>T
  • NM_001407654.1:c.430C>T
  • NM_001407655.1:c.430C>T
  • NM_001407656.1:c.430C>T
  • NM_001407657.1:c.430C>T
  • NM_001407658.1:c.430C>T
  • NM_001407659.1:c.427C>T
  • NM_001407660.1:c.427C>T
  • NM_001407661.1:c.427C>T
  • NM_001407662.1:c.427C>T
  • NM_001407663.1:c.430C>T
  • NM_001407664.1:c.508C>T
  • NM_001407665.1:c.508C>T
  • NM_001407666.1:c.508C>T
  • NM_001407667.1:c.508C>T
  • NM_001407668.1:c.508C>T
  • NM_001407669.1:c.508C>T
  • NM_001407670.1:c.505C>T
  • NM_001407671.1:c.505C>T
  • NM_001407672.1:c.505C>T
  • NM_001407673.1:c.505C>T
  • NM_001407674.1:c.508C>T
  • NM_001407675.1:c.508C>T
  • NM_001407676.1:c.508C>T
  • NM_001407677.1:c.508C>T
  • NM_001407678.1:c.508C>T
  • NM_001407679.1:c.508C>T
  • NM_001407680.1:c.508C>T
  • NM_001407681.1:c.508C>T
  • NM_001407682.1:c.508C>T
  • NM_001407683.1:c.508C>T
  • NM_001407684.1:c.508C>T
  • NM_001407685.1:c.505C>T
  • NM_001407686.1:c.505C>T
  • NM_001407687.1:c.505C>T
  • NM_001407688.1:c.505C>T
  • NM_001407689.1:c.505C>T
  • NM_001407690.1:c.505C>T
  • NM_001407691.1:c.505C>T
  • NM_001407692.1:c.367C>T
  • NM_001407694.1:c.367C>T
  • NM_001407695.1:c.367C>T
  • NM_001407696.1:c.367C>T
  • NM_001407697.1:c.367C>T
  • NM_001407698.1:c.367C>T
  • NM_001407724.1:c.367C>T
  • NM_001407725.1:c.367C>T
  • NM_001407726.1:c.367C>T
  • NM_001407727.1:c.367C>T
  • NM_001407728.1:c.367C>T
  • NM_001407729.1:c.367C>T
  • NM_001407730.1:c.367C>T
  • NM_001407731.1:c.367C>T
  • NM_001407732.1:c.367C>T
  • NM_001407733.1:c.367C>T
  • NM_001407734.1:c.367C>T
  • NM_001407735.1:c.367C>T
  • NM_001407736.1:c.367C>T
  • NM_001407737.1:c.367C>T
  • NM_001407738.1:c.367C>T
  • NM_001407739.1:c.367C>T
  • NM_001407740.1:c.364C>T
  • NM_001407741.1:c.364C>T
  • NM_001407742.1:c.364C>T
  • NM_001407743.1:c.364C>T
  • NM_001407744.1:c.364C>T
  • NM_001407745.1:c.364C>T
  • NM_001407746.1:c.364C>T
  • NM_001407747.1:c.364C>T
  • NM_001407748.1:c.364C>T
  • NM_001407749.1:c.364C>T
  • NM_001407750.1:c.367C>T
  • NM_001407751.1:c.367C>T
  • NM_001407752.1:c.367C>T
  • NM_001407838.1:c.364C>T
  • NM_001407839.1:c.364C>T
  • NM_001407841.1:c.364C>T
  • NM_001407842.1:c.364C>T
  • NM_001407843.1:c.364C>T
  • NM_001407844.1:c.364C>T
  • NM_001407845.1:c.364C>T
  • NM_001407846.1:c.364C>T
  • NM_001407847.1:c.364C>T
  • NM_001407848.1:c.364C>T
  • NM_001407849.1:c.364C>T
  • NM_001407850.1:c.367C>T
  • NM_001407851.1:c.367C>T
  • NM_001407852.1:c.367C>T
  • NM_001407853.1:c.295C>T
  • NM_001407854.1:c.508C>T
  • NM_001407858.1:c.508C>T
  • NM_001407859.1:c.508C>T
  • NM_001407860.1:c.505C>T
  • NM_001407861.1:c.505C>T
  • NM_001407862.1:c.430C>T
  • NM_001407863.1:c.508C>T
  • NM_001407874.1:c.427C>T
  • NM_001407875.1:c.427C>T
  • NM_001407879.1:c.298C>T
  • NM_001407881.1:c.298C>T
  • NM_001407882.1:c.298C>T
  • NM_001407884.1:c.298C>T
  • NM_001407885.1:c.298C>T
  • NM_001407886.1:c.298C>T
  • NM_001407887.1:c.298C>T
  • NM_001407889.1:c.298C>T
  • NM_001407894.1:c.295C>T
  • NM_001407895.1:c.295C>T
  • NM_001407896.1:c.295C>T
  • NM_001407897.1:c.295C>T
  • NM_001407898.1:c.295C>T
  • NM_001407899.1:c.295C>T
  • NM_001407900.1:c.298C>T
  • NM_001407902.1:c.298C>T
  • NM_001407904.1:c.298C>T
  • NM_001407906.1:c.298C>T
  • NM_001407907.1:c.298C>T
  • NM_001407908.1:c.298C>T
  • NM_001407909.1:c.298C>T
  • NM_001407910.1:c.298C>T
  • NM_001407915.1:c.295C>T
  • NM_001407916.1:c.295C>T
  • NM_001407917.1:c.295C>T
  • NM_001407918.1:c.295C>T
  • NM_001407919.1:c.508C>T
  • NM_001407920.1:c.367C>T
  • NM_001407921.1:c.367C>T
  • NM_001407922.1:c.367C>T
  • NM_001407923.1:c.367C>T
  • NM_001407924.1:c.367C>T
  • NM_001407925.1:c.367C>T
  • NM_001407926.1:c.367C>T
  • NM_001407927.1:c.367C>T
  • NM_001407928.1:c.367C>T
  • NM_001407929.1:c.367C>T
  • NM_001407930.1:c.364C>T
  • NM_001407931.1:c.364C>T
  • NM_001407932.1:c.364C>T
  • NM_001407933.1:c.367C>T
  • NM_001407934.1:c.364C>T
  • NM_001407935.1:c.367C>T
  • NM_001407936.1:c.364C>T
  • NM_001407937.1:c.508C>T
  • NM_001407938.1:c.508C>T
  • NM_001407939.1:c.508C>T
  • NM_001407940.1:c.505C>T
  • NM_001407941.1:c.505C>T
  • NM_001407942.1:c.367C>T
  • NM_001407943.1:c.364C>T
  • NM_001407944.1:c.367C>T
  • NM_001407945.1:c.367C>T
  • NM_001407946.1:c.298C>T
  • NM_001407947.1:c.298C>T
  • NM_001407948.1:c.298C>T
  • NM_001407949.1:c.298C>T
  • NM_001407950.1:c.298C>T
  • NM_001407951.1:c.298C>T
  • NM_001407952.1:c.298C>T
  • NM_001407953.1:c.298C>T
  • NM_001407954.1:c.295C>T
  • NM_001407955.1:c.295C>T
  • NM_001407956.1:c.295C>T
  • NM_001407957.1:c.298C>T
  • NM_001407958.1:c.295C>T
  • NM_001407959.1:c.127C>T
  • NM_001407960.1:c.127C>T
  • NM_001407962.1:c.124C>T
  • NM_001407963.1:c.127C>T
  • NM_001407964.1:c.364C>T
  • NM_001407965.1:c.127C>T
  • NM_001407968.1:c.508C>T
  • NM_001407969.1:c.508C>T
  • NM_001407970.1:c.508C>T
  • NM_001407971.1:c.508C>T
  • NM_001407972.1:c.505C>T
  • NM_001407973.1:c.508C>T
  • NM_001407974.1:c.508C>T
  • NM_001407975.1:c.508C>T
  • NM_001407976.1:c.508C>T
  • NM_001407977.1:c.508C>T
  • NM_001407978.1:c.508C>T
  • NM_001407979.1:c.508C>T
  • NM_001407980.1:c.508C>T
  • NM_001407981.1:c.508C>T
  • NM_001407982.1:c.508C>T
  • NM_001407983.1:c.508C>T
  • NM_001407984.1:c.505C>T
  • NM_001407985.1:c.505C>T
  • NM_001407986.1:c.505C>T
  • NM_001407990.1:c.508C>T
  • NM_001407991.1:c.505C>T
  • NM_001407992.1:c.505C>T
  • NM_001407993.1:c.508C>T
  • NM_001408392.1:c.505C>T
  • NM_001408396.1:c.505C>T
  • NM_001408397.1:c.505C>T
  • NM_001408398.1:c.505C>T
  • NM_001408399.1:c.505C>T
  • NM_001408400.1:c.505C>T
  • NM_001408401.1:c.505C>T
  • NM_001408402.1:c.505C>T
  • NM_001408403.1:c.508C>T
  • NM_001408404.1:c.508C>T
  • NM_001408406.1:c.508C>T
  • NM_001408407.1:c.505C>T
  • NM_001408408.1:c.499C>T
  • NM_001408409.1:c.430C>T
  • NM_001408410.1:c.367C>T
  • NM_001408411.1:c.430C>T
  • NM_001408412.1:c.430C>T
  • NM_001408413.1:c.427C>T
  • NM_001408414.1:c.430C>T
  • NM_001408415.1:c.430C>T
  • NM_001408416.1:c.427C>T
  • NM_001408418.1:c.508C>T
  • NM_001408419.1:c.508C>T
  • NM_001408420.1:c.508C>T
  • NM_001408421.1:c.505C>T
  • NM_001408422.1:c.508C>T
  • NM_001408423.1:c.508C>T
  • NM_001408424.1:c.505C>T
  • NM_001408425.1:c.508C>T
  • NM_001408426.1:c.508C>T
  • NM_001408427.1:c.508C>T
  • NM_001408428.1:c.508C>T
  • NM_001408429.1:c.508C>T
  • NM_001408430.1:c.508C>T
  • NM_001408431.1:c.505C>T
  • NM_001408432.1:c.505C>T
  • NM_001408433.1:c.505C>T
  • NM_001408434.1:c.505C>T
  • NM_001408435.1:c.505C>T
  • NM_001408436.1:c.508C>T
  • NM_001408437.1:c.508C>T
  • NM_001408438.1:c.508C>T
  • NM_001408439.1:c.508C>T
  • NM_001408440.1:c.508C>T
  • NM_001408441.1:c.508C>T
  • NM_001408442.1:c.508C>T
  • NM_001408443.1:c.508C>T
  • NM_001408444.1:c.508C>T
  • NM_001408445.1:c.505C>T
  • NM_001408446.1:c.505C>T
  • NM_001408447.1:c.505C>T
  • NM_001408448.1:c.505C>T
  • NM_001408450.1:c.505C>T
  • NM_001408451.1:c.373C>T
  • NM_001408452.1:c.367C>T
  • NM_001408453.1:c.367C>T
  • NM_001408454.1:c.367C>T
  • NM_001408455.1:c.367C>T
  • NM_001408456.1:c.367C>T
  • NM_001408457.1:c.367C>T
  • NM_001408458.1:c.367C>T
  • NM_001408459.1:c.367C>T
  • NM_001408460.1:c.367C>T
  • NM_001408461.1:c.367C>T
  • NM_001408462.1:c.364C>T
  • NM_001408463.1:c.364C>T
  • NM_001408464.1:c.364C>T
  • NM_001408465.1:c.364C>T
  • NM_001408466.1:c.367C>T
  • NM_001408467.1:c.367C>T
  • NM_001408468.1:c.364C>T
  • NM_001408469.1:c.367C>T
  • NM_001408470.1:c.364C>T
  • NM_001408472.1:c.508C>T
  • NM_001408473.1:c.505C>T
  • NM_001408474.1:c.430C>T
  • NM_001408475.1:c.427C>T
  • NM_001408476.1:c.430C>T
  • NM_001408478.1:c.298C>T
  • NM_001408479.1:c.298C>T
  • NM_001408480.1:c.298C>T
  • NM_001408481.1:c.298C>T
  • NM_001408482.1:c.298C>T
  • NM_001408483.1:c.298C>T
  • NM_001408484.1:c.298C>T
  • NM_001408485.1:c.298C>T
  • NM_001408489.1:c.298C>T
  • NM_001408490.1:c.295C>T
  • NM_001408491.1:c.295C>T
  • NM_001408492.1:c.298C>T
  • NM_001408493.1:c.295C>T
  • NM_001408494.1:c.508C>T
  • NM_001408495.1:c.505C>T
  • NM_001408496.1:c.367C>T
  • NM_001408497.1:c.367C>T
  • NM_001408498.1:c.367C>T
  • NM_001408499.1:c.367C>T
  • NM_001408500.1:c.367C>T
  • NM_001408501.1:c.367C>T
  • NM_001408502.1:c.298C>T
  • NM_001408503.1:c.364C>T
  • NM_001408504.1:c.364C>T
  • NM_001408505.1:c.364C>T
  • NM_001408506.1:c.298C>T
  • NM_001408507.1:c.298C>T
  • NM_001408508.1:c.295C>T
  • NM_001408509.1:c.295C>T
  • NM_001408510.1:c.127C>T
  • NM_001408511.1:c.364C>T
  • NM_001408512.1:c.127C>T
  • NM_001408513.1:c.298C>T
  • NM_001408514.1:c.298C>T
  • NM_007294.4:c.508C>TMANE SELECT
  • NM_007297.4:c.367C>T
  • NM_007298.4:c.508C>T
  • NM_007299.4:c.508C>T
  • NM_007300.4:c.508C>T
  • NM_007304.2:c.508C>T
  • NP_001394500.1:p.Arg99Trp
  • NP_001394510.1:p.Arg170Trp
  • NP_001394511.1:p.Arg170Trp
  • NP_001394512.1:p.Arg170Trp
  • NP_001394514.1:p.Arg170Trp
  • NP_001394516.1:p.Arg169Trp
  • NP_001394519.1:p.Arg169Trp
  • NP_001394520.1:p.Arg169Trp
  • NP_001394522.1:p.Arg170Trp
  • NP_001394523.1:p.Arg170Trp
  • NP_001394525.1:p.Arg170Trp
  • NP_001394526.1:p.Arg170Trp
  • NP_001394527.1:p.Arg170Trp
  • NP_001394531.1:p.Arg170Trp
  • NP_001394532.1:p.Arg170Trp
  • NP_001394534.1:p.Arg170Trp
  • NP_001394539.1:p.Arg169Trp
  • NP_001394540.1:p.Arg169Trp
  • NP_001394541.1:p.Arg169Trp
  • NP_001394542.1:p.Arg169Trp
  • NP_001394543.1:p.Arg169Trp
  • NP_001394544.1:p.Arg169Trp
  • NP_001394545.1:p.Arg170Trp
  • NP_001394546.1:p.Arg170Trp
  • NP_001394547.1:p.Arg170Trp
  • NP_001394548.1:p.Arg170Trp
  • NP_001394549.1:p.Arg170Trp
  • NP_001394550.1:p.Arg170Trp
  • NP_001394551.1:p.Arg170Trp
  • NP_001394552.1:p.Arg170Trp
  • NP_001394553.1:p.Arg170Trp
  • NP_001394554.1:p.Arg170Trp
  • NP_001394555.1:p.Arg170Trp
  • NP_001394556.1:p.Arg169Trp
  • NP_001394557.1:p.Arg169Trp
  • NP_001394558.1:p.Arg169Trp
  • NP_001394559.1:p.Arg169Trp
  • NP_001394560.1:p.Arg169Trp
  • NP_001394561.1:p.Arg169Trp
  • NP_001394562.1:p.Arg169Trp
  • NP_001394563.1:p.Arg169Trp
  • NP_001394564.1:p.Arg169Trp
  • NP_001394565.1:p.Arg169Trp
  • NP_001394566.1:p.Arg169Trp
  • NP_001394567.1:p.Arg169Trp
  • NP_001394568.1:p.Arg170Trp
  • NP_001394569.1:p.Arg170Trp
  • NP_001394570.1:p.Arg170Trp
  • NP_001394571.1:p.Arg170Trp
  • NP_001394573.1:p.Arg169Trp
  • NP_001394574.1:p.Arg169Trp
  • NP_001394575.1:p.Arg167Trp
  • NP_001394576.1:p.Arg167Trp
  • NP_001394577.1:p.Arg170Trp
  • NP_001394578.1:p.Arg169Trp
  • NP_001394581.1:p.Arg170Trp
  • NP_001394582.1:p.Arg144Trp
  • NP_001394583.1:p.Arg144Trp
  • NP_001394584.1:p.Arg144Trp
  • NP_001394585.1:p.Arg144Trp
  • NP_001394586.1:p.Arg144Trp
  • NP_001394587.1:p.Arg144Trp
  • NP_001394588.1:p.Arg143Trp
  • NP_001394589.1:p.Arg143Trp
  • NP_001394590.1:p.Arg143Trp
  • NP_001394591.1:p.Arg143Trp
  • NP_001394592.1:p.Arg144Trp
  • NP_001394593.1:p.Arg170Trp
  • NP_001394594.1:p.Arg170Trp
  • NP_001394595.1:p.Arg170Trp
  • NP_001394596.1:p.Arg170Trp
  • NP_001394597.1:p.Arg170Trp
  • NP_001394598.1:p.Arg170Trp
  • NP_001394599.1:p.Arg169Trp
  • NP_001394600.1:p.Arg169Trp
  • NP_001394601.1:p.Arg169Trp
  • NP_001394602.1:p.Arg169Trp
  • NP_001394603.1:p.Arg170Trp
  • NP_001394604.1:p.Arg170Trp
  • NP_001394605.1:p.Arg170Trp
  • NP_001394606.1:p.Arg170Trp
  • NP_001394607.1:p.Arg170Trp
  • NP_001394608.1:p.Arg170Trp
  • NP_001394609.1:p.Arg170Trp
  • NP_001394610.1:p.Arg170Trp
  • NP_001394611.1:p.Arg170Trp
  • NP_001394612.1:p.Arg170Trp
  • NP_001394613.1:p.Arg170Trp
  • NP_001394614.1:p.Arg169Trp
  • NP_001394615.1:p.Arg169Trp
  • NP_001394616.1:p.Arg169Trp
  • NP_001394617.1:p.Arg169Trp
  • NP_001394618.1:p.Arg169Trp
  • NP_001394619.1:p.Arg169Trp
  • NP_001394620.1:p.Arg169Trp
  • NP_001394621.1:p.Arg123Trp
  • NP_001394623.1:p.Arg123Trp
  • NP_001394624.1:p.Arg123Trp
  • NP_001394625.1:p.Arg123Trp
  • NP_001394626.1:p.Arg123Trp
  • NP_001394627.1:p.Arg123Trp
  • NP_001394653.1:p.Arg123Trp
  • NP_001394654.1:p.Arg123Trp
  • NP_001394655.1:p.Arg123Trp
  • NP_001394656.1:p.Arg123Trp
  • NP_001394657.1:p.Arg123Trp
  • NP_001394658.1:p.Arg123Trp
  • NP_001394659.1:p.Arg123Trp
  • NP_001394660.1:p.Arg123Trp
  • NP_001394661.1:p.Arg123Trp
  • NP_001394662.1:p.Arg123Trp
  • NP_001394663.1:p.Arg123Trp
  • NP_001394664.1:p.Arg123Trp
  • NP_001394665.1:p.Arg123Trp
  • NP_001394666.1:p.Arg123Trp
  • NP_001394667.1:p.Arg123Trp
  • NP_001394668.1:p.Arg123Trp
  • NP_001394669.1:p.Arg122Trp
  • NP_001394670.1:p.Arg122Trp
  • NP_001394671.1:p.Arg122Trp
  • NP_001394672.1:p.Arg122Trp
  • NP_001394673.1:p.Arg122Trp
  • NP_001394674.1:p.Arg122Trp
  • NP_001394675.1:p.Arg122Trp
  • NP_001394676.1:p.Arg122Trp
  • NP_001394677.1:p.Arg122Trp
  • NP_001394678.1:p.Arg122Trp
  • NP_001394679.1:p.Arg123Trp
  • NP_001394680.1:p.Arg123Trp
  • NP_001394681.1:p.Arg123Trp
  • NP_001394767.1:p.Arg122Trp
  • NP_001394768.1:p.Arg122Trp
  • NP_001394770.1:p.Arg122Trp
  • NP_001394771.1:p.Arg122Trp
  • NP_001394772.1:p.Arg122Trp
  • NP_001394773.1:p.Arg122Trp
  • NP_001394774.1:p.Arg122Trp
  • NP_001394775.1:p.Arg122Trp
  • NP_001394776.1:p.Arg122Trp
  • NP_001394777.1:p.Arg122Trp
  • NP_001394778.1:p.Arg122Trp
  • NP_001394779.1:p.Arg123Trp
  • NP_001394780.1:p.Arg123Trp
  • NP_001394781.1:p.Arg123Trp
  • NP_001394782.1:p.Arg99Trp
  • NP_001394783.1:p.Arg170Trp
  • NP_001394787.1:p.Arg170Trp
  • NP_001394788.1:p.Arg170Trp
  • NP_001394789.1:p.Arg169Trp
  • NP_001394790.1:p.Arg169Trp
  • NP_001394791.1:p.Arg144Trp
  • NP_001394792.1:p.Arg170Trp
  • NP_001394803.1:p.Arg143Trp
  • NP_001394804.1:p.Arg143Trp
  • NP_001394808.1:p.Arg100Trp
  • NP_001394810.1:p.Arg100Trp
  • NP_001394811.1:p.Arg100Trp
  • NP_001394813.1:p.Arg100Trp
  • NP_001394814.1:p.Arg100Trp
  • NP_001394815.1:p.Arg100Trp
  • NP_001394816.1:p.Arg100Trp
  • NP_001394818.1:p.Arg100Trp
  • NP_001394823.1:p.Arg99Trp
  • NP_001394824.1:p.Arg99Trp
  • NP_001394825.1:p.Arg99Trp
  • NP_001394826.1:p.Arg99Trp
  • NP_001394827.1:p.Arg99Trp
  • NP_001394828.1:p.Arg99Trp
  • NP_001394829.1:p.Arg100Trp
  • NP_001394831.1:p.Arg100Trp
  • NP_001394833.1:p.Arg100Trp
  • NP_001394835.1:p.Arg100Trp
  • NP_001394836.1:p.Arg100Trp
  • NP_001394837.1:p.Arg100Trp
  • NP_001394838.1:p.Arg100Trp
  • NP_001394839.1:p.Arg100Trp
  • NP_001394844.1:p.Arg99Trp
  • NP_001394845.1:p.Arg99Trp
  • NP_001394846.1:p.Arg99Trp
  • NP_001394847.1:p.Arg99Trp
  • NP_001394848.1:p.Arg170Trp
  • NP_001394849.1:p.Arg123Trp
  • NP_001394850.1:p.Arg123Trp
  • NP_001394851.1:p.Arg123Trp
  • NP_001394852.1:p.Arg123Trp
  • NP_001394853.1:p.Arg123Trp
  • NP_001394854.1:p.Arg123Trp
  • NP_001394855.1:p.Arg123Trp
  • NP_001394856.1:p.Arg123Trp
  • NP_001394857.1:p.Arg123Trp
  • NP_001394858.1:p.Arg123Trp
  • NP_001394859.1:p.Arg122Trp
  • NP_001394860.1:p.Arg122Trp
  • NP_001394861.1:p.Arg122Trp
  • NP_001394862.1:p.Arg123Trp
  • NP_001394863.1:p.Arg122Trp
  • NP_001394864.1:p.Arg123Trp
  • NP_001394865.1:p.Arg122Trp
  • NP_001394866.1:p.Arg170Trp
  • NP_001394867.1:p.Arg170Trp
  • NP_001394868.1:p.Arg170Trp
  • NP_001394869.1:p.Arg169Trp
  • NP_001394870.1:p.Arg169Trp
  • NP_001394871.1:p.Arg123Trp
  • NP_001394872.1:p.Arg122Trp
  • NP_001394873.1:p.Arg123Trp
  • NP_001394874.1:p.Arg123Trp
  • NP_001394875.1:p.Arg100Trp
  • NP_001394876.1:p.Arg100Trp
  • NP_001394877.1:p.Arg100Trp
  • NP_001394878.1:p.Arg100Trp
  • NP_001394879.1:p.Arg100Trp
  • NP_001394880.1:p.Arg100Trp
  • NP_001394881.1:p.Arg100Trp
  • NP_001394882.1:p.Arg100Trp
  • NP_001394883.1:p.Arg99Trp
  • NP_001394884.1:p.Arg99Trp
  • NP_001394885.1:p.Arg99Trp
  • NP_001394886.1:p.Arg100Trp
  • NP_001394887.1:p.Arg99Trp
  • NP_001394888.1:p.Arg43Trp
  • NP_001394889.1:p.Arg43Trp
  • NP_001394891.1:p.Arg42Trp
  • NP_001394892.1:p.Arg43Trp
  • NP_001394893.1:p.Arg122Trp
  • NP_001394894.1:p.Arg43Trp
  • NP_001394897.1:p.Arg170Trp
  • NP_001394898.1:p.Arg170Trp
  • NP_001394899.1:p.Arg170Trp
  • NP_001394900.1:p.Arg170Trp
  • NP_001394901.1:p.Arg169Trp
  • NP_001394902.1:p.Arg170Trp
  • NP_001394903.1:p.Arg170Trp
  • NP_001394904.1:p.Arg170Trp
  • NP_001394905.1:p.Arg170Trp
  • NP_001394906.1:p.Arg170Trp
  • NP_001394907.1:p.Arg170Trp
  • NP_001394908.1:p.Arg170Trp
  • NP_001394909.1:p.Arg170Trp
  • NP_001394910.1:p.Arg170Trp
  • NP_001394911.1:p.Arg170Trp
  • NP_001394912.1:p.Arg170Trp
  • NP_001394913.1:p.Arg169Trp
  • NP_001394914.1:p.Arg169Trp
  • NP_001394915.1:p.Arg169Trp
  • NP_001394919.1:p.Arg170Trp
  • NP_001394920.1:p.Arg169Trp
  • NP_001394921.1:p.Arg169Trp
  • NP_001394922.1:p.Arg170Trp
  • NP_001395321.1:p.Arg169Trp
  • NP_001395325.1:p.Arg169Trp
  • NP_001395326.1:p.Arg169Trp
  • NP_001395327.1:p.Arg169Trp
  • NP_001395328.1:p.Arg169Trp
  • NP_001395329.1:p.Arg169Trp
  • NP_001395330.1:p.Arg169Trp
  • NP_001395331.1:p.Arg169Trp
  • NP_001395332.1:p.Arg170Trp
  • NP_001395333.1:p.Arg170Trp
  • NP_001395335.1:p.Arg170Trp
  • NP_001395336.1:p.Arg169Trp
  • NP_001395337.1:p.Arg167Trp
  • NP_001395338.1:p.Arg144Trp
  • NP_001395339.1:p.Arg123Trp
  • NP_001395340.1:p.Arg144Trp
  • NP_001395341.1:p.Arg144Trp
  • NP_001395342.1:p.Arg143Trp
  • NP_001395343.1:p.Arg144Trp
  • NP_001395344.1:p.Arg144Trp
  • NP_001395345.1:p.Arg143Trp
  • NP_001395347.1:p.Arg170Trp
  • NP_001395348.1:p.Arg170Trp
  • NP_001395349.1:p.Arg170Trp
  • NP_001395350.1:p.Arg169Trp
  • NP_001395351.1:p.Arg170Trp
  • NP_001395352.1:p.Arg170Trp
  • NP_001395353.1:p.Arg169Trp
  • NP_001395354.1:p.Arg170Trp
  • NP_001395355.1:p.Arg170Trp
  • NP_001395356.1:p.Arg170Trp
  • NP_001395357.1:p.Arg170Trp
  • NP_001395358.1:p.Arg170Trp
  • NP_001395359.1:p.Arg170Trp
  • NP_001395360.1:p.Arg169Trp
  • NP_001395361.1:p.Arg169Trp
  • NP_001395362.1:p.Arg169Trp
  • NP_001395363.1:p.Arg169Trp
  • NP_001395364.1:p.Arg169Trp
  • NP_001395365.1:p.Arg170Trp
  • NP_001395366.1:p.Arg170Trp
  • NP_001395367.1:p.Arg170Trp
  • NP_001395368.1:p.Arg170Trp
  • NP_001395369.1:p.Arg170Trp
  • NP_001395370.1:p.Arg170Trp
  • NP_001395371.1:p.Arg170Trp
  • NP_001395372.1:p.Arg170Trp
  • NP_001395373.1:p.Arg170Trp
  • NP_001395374.1:p.Arg169Trp
  • NP_001395375.1:p.Arg169Trp
  • NP_001395376.1:p.Arg169Trp
  • NP_001395377.1:p.Arg169Trp
  • NP_001395379.1:p.Arg169Trp
  • NP_001395380.1:p.Arg125Trp
  • NP_001395381.1:p.Arg123Trp
  • NP_001395382.1:p.Arg123Trp
  • NP_001395383.1:p.Arg123Trp
  • NP_001395384.1:p.Arg123Trp
  • NP_001395385.1:p.Arg123Trp
  • NP_001395386.1:p.Arg123Trp
  • NP_001395387.1:p.Arg123Trp
  • NP_001395388.1:p.Arg123Trp
  • NP_001395389.1:p.Arg123Trp
  • NP_001395390.1:p.Arg123Trp
  • NP_001395391.1:p.Arg122Trp
  • NP_001395392.1:p.Arg122Trp
  • NP_001395393.1:p.Arg122Trp
  • NP_001395394.1:p.Arg122Trp
  • NP_001395395.1:p.Arg123Trp
  • NP_001395396.1:p.Arg123Trp
  • NP_001395397.1:p.Arg122Trp
  • NP_001395398.1:p.Arg123Trp
  • NP_001395399.1:p.Arg122Trp
  • NP_001395401.1:p.Arg170Trp
  • NP_001395402.1:p.Arg169Trp
  • NP_001395403.1:p.Arg144Trp
  • NP_001395404.1:p.Arg143Trp
  • NP_001395405.1:p.Arg144Trp
  • NP_001395407.1:p.Arg100Trp
  • NP_001395408.1:p.Arg100Trp
  • NP_001395409.1:p.Arg100Trp
  • NP_001395410.1:p.Arg100Trp
  • NP_001395411.1:p.Arg100Trp
  • NP_001395412.1:p.Arg100Trp
  • NP_001395413.1:p.Arg100Trp
  • NP_001395414.1:p.Arg100Trp
  • NP_001395418.1:p.Arg100Trp
  • NP_001395419.1:p.Arg99Trp
  • NP_001395420.1:p.Arg99Trp
  • NP_001395421.1:p.Arg100Trp
  • NP_001395422.1:p.Arg99Trp
  • NP_001395423.1:p.Arg170Trp
  • NP_001395424.1:p.Arg169Trp
  • NP_001395425.1:p.Arg123Trp
  • NP_001395426.1:p.Arg123Trp
  • NP_001395427.1:p.Arg123Trp
  • NP_001395428.1:p.Arg123Trp
  • NP_001395429.1:p.Arg123Trp
  • NP_001395430.1:p.Arg123Trp
  • NP_001395431.1:p.Arg100Trp
  • NP_001395432.1:p.Arg122Trp
  • NP_001395433.1:p.Arg122Trp
  • NP_001395434.1:p.Arg122Trp
  • NP_001395435.1:p.Arg100Trp
  • NP_001395436.1:p.Arg100Trp
  • NP_001395437.1:p.Arg99Trp
  • NP_001395438.1:p.Arg99Trp
  • NP_001395439.1:p.Arg43Trp
  • NP_001395440.1:p.Arg122Trp
  • NP_001395441.1:p.Arg43Trp
  • NP_001395442.1:p.Arg100Trp
  • NP_001395443.1:p.Arg100Trp
  • NP_009225.1:p.Arg170Trp
  • NP_009225.1:p.Arg170Trp
  • NP_009228.2:p.Arg123Trp
  • NP_009229.2:p.Arg170Trp
  • NP_009229.2:p.Arg170Trp
  • NP_009230.2:p.Arg170Trp
  • NP_009231.2:p.Arg170Trp
  • NP_009235.2:p.Arg170Trp
  • LRG_292t1:c.508C>T
  • LRG_292:g.118170C>T
  • LRG_292p1:p.Arg170Trp
  • NC_000017.10:g.41251831G>A
  • NM_007294.3:c.508C>T
  • NM_007298.3:c.508C>T
  • NR_027676.2:n.685C>T
  • P38398:p.Arg170Trp
  • U14680.1:n.627C>T
  • p.R170W
Protein change:
R100W
Links:
UniProtKB: P38398#VAR_070466; dbSNP: rs80357325
NCBI 1000 Genomes Browser:
rs80357325
Molecular consequence:
  • NM_001407571.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.499C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.499C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.499C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.295C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.364C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.127C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.298C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.685C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000566762GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 10, 2021) 		germlineclinical testing

Citation Link,

SCV001133607Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(May 3, 2019) 		germlineclinical testing

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

SCV001549629Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownyes1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P, van der Gulden H, van der Heijden I, Drost R, Klijn CN, Prasetyanti P, Pieterse M, Wientjens E, Seibler J, Hogervorst FB, Jonkers J.

Cancer Discov. 2013 Oct;3(10):1142-55. doi: 10.1158/2159-8290.CD-13-0094. Epub 2013 Jul 18.

PubMed [citation]
PMID:
23867111

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000566762.5

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

Description

Not observed at significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with a personal or family history including breast and ovarian cancers (Tung 2015); Published functional studies demonstrate no damaging effect to cell growth, ubiquitination, or sensitivity to cisplatin (Bouwman 2013, Starita 2015); This variant is associated with the following publications: (PMID: 23867111, 25823446, 25186627, 30287823, 33087888, 23983145, 10923033, Rodriguez2013[CaseReport], 31131967)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133607.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001549629.1

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

Last Updated: Apr 15, 2024