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NM_007294.4(BRCA1):c.125T>C (p.Ile42Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2024
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:
RCV004031194.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.125T>C (p.Ile42Thr)]

NM_007294.4(BRCA1):c.125T>C (p.Ile42Thr)

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.125T>C (p.Ile42Thr)
HGVS:
  • NC_000017.11:g.43115735A>G
  • NG_005905.2:g.102249T>C
  • NM_001407571.1:c.-64T>C
  • NM_001407581.1:c.125T>C
  • NM_001407582.1:c.125T>C
  • NM_001407583.1:c.125T>C
  • NM_001407585.1:c.125T>C
  • NM_001407587.1:c.125T>C
  • NM_001407590.1:c.125T>C
  • NM_001407591.1:c.125T>C
  • NM_001407593.1:c.125T>C
  • NM_001407594.1:c.125T>C
  • NM_001407596.1:c.125T>C
  • NM_001407597.1:c.125T>C
  • NM_001407598.1:c.125T>C
  • NM_001407602.1:c.125T>C
  • NM_001407603.1:c.125T>C
  • NM_001407605.1:c.125T>C
  • NM_001407610.1:c.125T>C
  • NM_001407611.1:c.125T>C
  • NM_001407612.1:c.125T>C
  • NM_001407613.1:c.125T>C
  • NM_001407614.1:c.125T>C
  • NM_001407615.1:c.125T>C
  • NM_001407616.1:c.125T>C
  • NM_001407617.1:c.125T>C
  • NM_001407618.1:c.125T>C
  • NM_001407619.1:c.125T>C
  • NM_001407620.1:c.125T>C
  • NM_001407621.1:c.125T>C
  • NM_001407622.1:c.125T>C
  • NM_001407623.1:c.125T>C
  • NM_001407624.1:c.125T>C
  • NM_001407625.1:c.125T>C
  • NM_001407626.1:c.125T>C
  • NM_001407627.1:c.125T>C
  • NM_001407628.1:c.125T>C
  • NM_001407629.1:c.125T>C
  • NM_001407630.1:c.125T>C
  • NM_001407631.1:c.125T>C
  • NM_001407632.1:c.125T>C
  • NM_001407633.1:c.125T>C
  • NM_001407634.1:c.125T>C
  • NM_001407635.1:c.125T>C
  • NM_001407636.1:c.125T>C
  • NM_001407637.1:c.125T>C
  • NM_001407638.1:c.125T>C
  • NM_001407639.1:c.125T>C
  • NM_001407640.1:c.125T>C
  • NM_001407641.1:c.125T>C
  • NM_001407642.1:c.125T>C
  • NM_001407644.1:c.125T>C
  • NM_001407645.1:c.125T>C
  • NM_001407646.1:c.125T>C
  • NM_001407647.1:c.125T>C
  • NM_001407648.1:c.125T>C
  • NM_001407649.1:c.125T>C
  • NM_001407652.1:c.125T>C
  • NM_001407653.1:c.125T>C
  • NM_001407654.1:c.125T>C
  • NM_001407655.1:c.125T>C
  • NM_001407656.1:c.125T>C
  • NM_001407657.1:c.125T>C
  • NM_001407658.1:c.125T>C
  • NM_001407659.1:c.125T>C
  • NM_001407660.1:c.125T>C
  • NM_001407661.1:c.125T>C
  • NM_001407662.1:c.125T>C
  • NM_001407663.1:c.125T>C
  • NM_001407664.1:c.125T>C
  • NM_001407665.1:c.125T>C
  • NM_001407666.1:c.125T>C
  • NM_001407667.1:c.125T>C
  • NM_001407668.1:c.125T>C
  • NM_001407669.1:c.125T>C
  • NM_001407670.1:c.125T>C
  • NM_001407671.1:c.125T>C
  • NM_001407672.1:c.125T>C
  • NM_001407673.1:c.125T>C
  • NM_001407674.1:c.125T>C
  • NM_001407675.1:c.125T>C
  • NM_001407676.1:c.125T>C
  • NM_001407677.1:c.125T>C
  • NM_001407678.1:c.125T>C
  • NM_001407679.1:c.125T>C
  • NM_001407680.1:c.125T>C
  • NM_001407681.1:c.125T>C
  • NM_001407682.1:c.125T>C
  • NM_001407683.1:c.125T>C
  • NM_001407684.1:c.125T>C
  • NM_001407685.1:c.125T>C
  • NM_001407686.1:c.125T>C
  • NM_001407687.1:c.125T>C
  • NM_001407688.1:c.125T>C
  • NM_001407689.1:c.125T>C
  • NM_001407690.1:c.125T>C
  • NM_001407691.1:c.125T>C
  • NM_001407694.1:c.-133T>C
  • NM_001407695.1:c.-137T>C
  • NM_001407696.1:c.-133T>C
  • NM_001407697.1:c.-17T>C
  • NM_001407724.1:c.-133T>C
  • NM_001407725.1:c.-17T>C
  • NM_001407727.1:c.-133T>C
  • NM_001407728.1:c.-17T>C
  • NM_001407729.1:c.-17T>C
  • NM_001407730.1:c.-17T>C
  • NM_001407731.1:c.-133T>C
  • NM_001407733.1:c.-133T>C
  • NM_001407734.1:c.-17T>C
  • NM_001407735.1:c.-17T>C
  • NM_001407737.1:c.-17T>C
  • NM_001407739.1:c.-17T>C
  • NM_001407740.1:c.-17T>C
  • NM_001407741.1:c.-17T>C
  • NM_001407743.1:c.-17T>C
  • NM_001407745.1:c.-17T>C
  • NM_001407746.1:c.-133T>C
  • NM_001407748.1:c.-17T>C
  • NM_001407749.1:c.-133T>C
  • NM_001407752.1:c.-17T>C
  • NM_001407838.1:c.-17T>C
  • NM_001407839.1:c.-17T>C
  • NM_001407841.1:c.-13T>C
  • NM_001407842.1:c.-133T>C
  • NM_001407843.1:c.-133T>C
  • NM_001407844.1:c.-17T>C
  • NM_001407846.1:c.-17T>C
  • NM_001407847.1:c.-17T>C
  • NM_001407848.1:c.-17T>C
  • NM_001407850.1:c.-17T>C
  • NM_001407851.1:c.-17T>C
  • NM_001407853.1:c.-64T>C
  • NM_001407854.1:c.125T>C
  • NM_001407858.1:c.125T>C
  • NM_001407859.1:c.125T>C
  • NM_001407860.1:c.125T>C
  • NM_001407861.1:c.125T>C
  • NM_001407862.1:c.125T>C
  • NM_001407863.1:c.125T>C
  • NM_001407874.1:c.125T>C
  • NM_001407875.1:c.125T>C
  • NM_001407879.1:c.-64T>C
  • NM_001407882.1:c.-64T>C
  • NM_001407884.1:c.-64T>C
  • NM_001407885.1:c.-64T>C
  • NM_001407886.1:c.-64T>C
  • NM_001407887.1:c.-64T>C
  • NM_001407889.1:c.-180T>C
  • NM_001407894.1:c.-64T>C
  • NM_001407895.1:c.-64T>C
  • NM_001407896.1:c.-64T>C
  • NM_001407897.1:c.-64T>C
  • NM_001407899.1:c.-64T>C
  • NM_001407900.1:c.-180T>C
  • NM_001407904.1:c.-64T>C
  • NM_001407906.1:c.-64T>C
  • NM_001407907.1:c.-64T>C
  • NM_001407908.1:c.-64T>C
  • NM_001407909.1:c.-64T>C
  • NM_001407910.1:c.-64T>C
  • NM_001407915.1:c.-64T>C
  • NM_001407916.1:c.-64T>C
  • NM_001407917.1:c.-64T>C
  • NM_001407918.1:c.-64T>C
  • NM_001407919.1:c.125T>C
  • NM_001407920.1:c.-17T>C
  • NM_001407921.1:c.-17T>C
  • NM_001407922.1:c.-17T>C
  • NM_001407923.1:c.-17T>C
  • NM_001407926.1:c.-17T>C
  • NM_001407927.1:c.-17T>C
  • NM_001407930.1:c.-133T>C
  • NM_001407933.1:c.-17T>C
  • NM_001407934.1:c.-17T>C
  • NM_001407935.1:c.-17T>C
  • NM_001407937.1:c.125T>C
  • NM_001407938.1:c.125T>C
  • NM_001407939.1:c.125T>C
  • NM_001407940.1:c.125T>C
  • NM_001407941.1:c.125T>C
  • NM_001407942.1:c.-133T>C
  • NM_001407943.1:c.-17T>C
  • NM_001407944.1:c.-17T>C
  • NM_001407946.1:c.-64T>C
  • NM_001407947.1:c.-64T>C
  • NM_001407948.1:c.-64T>C
  • NM_001407949.1:c.-64T>C
  • NM_001407950.1:c.-64T>C
  • NM_001407951.1:c.-64T>C
  • NM_001407952.1:c.-64T>C
  • NM_001407953.1:c.-64T>C
  • NM_001407954.1:c.-64T>C
  • NM_001407955.1:c.-64T>C
  • NM_001407956.1:c.-64T>C
  • NM_001407957.1:c.-64T>C
  • NM_001407958.1:c.-64T>C
  • NM_001407960.1:c.-179T>C
  • NM_001407962.1:c.-179T>C
  • NM_001407964.1:c.-17T>C
  • NM_001407965.1:c.-295T>C
  • NM_001407968.1:c.125T>C
  • NM_001407969.1:c.125T>C
  • NM_001407970.1:c.125T>C
  • NM_001407971.1:c.125T>C
  • NM_001407972.1:c.125T>C
  • NM_001407973.1:c.125T>C
  • NM_001407974.1:c.125T>C
  • NM_001407975.1:c.125T>C
  • NM_001407976.1:c.125T>C
  • NM_001407977.1:c.125T>C
  • NM_001407978.1:c.125T>C
  • NM_001407979.1:c.125T>C
  • NM_001407980.1:c.125T>C
  • NM_001407981.1:c.125T>C
  • NM_001407982.1:c.125T>C
  • NM_001407983.1:c.125T>C
  • NM_001407984.1:c.125T>C
  • NM_001407985.1:c.125T>C
  • NM_001407986.1:c.125T>C
  • NM_001407990.1:c.125T>C
  • NM_001407991.1:c.125T>C
  • NM_001407992.1:c.125T>C
  • NM_001407993.1:c.125T>C
  • NM_001408392.1:c.125T>C
  • NM_001408396.1:c.125T>C
  • NM_001408397.1:c.125T>C
  • NM_001408398.1:c.125T>C
  • NM_001408399.1:c.125T>C
  • NM_001408400.1:c.125T>C
  • NM_001408401.1:c.125T>C
  • NM_001408402.1:c.125T>C
  • NM_001408403.1:c.125T>C
  • NM_001408404.1:c.125T>C
  • NM_001408406.1:c.125T>C
  • NM_001408407.1:c.125T>C
  • NM_001408408.1:c.125T>C
  • NM_001408409.1:c.125T>C
  • NM_001408410.1:c.-17T>C
  • NM_001408411.1:c.125T>C
  • NM_001408412.1:c.125T>C
  • NM_001408413.1:c.125T>C
  • NM_001408414.1:c.125T>C
  • NM_001408415.1:c.125T>C
  • NM_001408416.1:c.125T>C
  • NM_001408418.1:c.125T>C
  • NM_001408419.1:c.125T>C
  • NM_001408420.1:c.125T>C
  • NM_001408421.1:c.125T>C
  • NM_001408422.1:c.125T>C
  • NM_001408423.1:c.125T>C
  • NM_001408424.1:c.125T>C
  • NM_001408425.1:c.125T>C
  • NM_001408426.1:c.125T>C
  • NM_001408427.1:c.125T>C
  • NM_001408428.1:c.125T>C
  • NM_001408429.1:c.125T>C
  • NM_001408430.1:c.125T>C
  • NM_001408431.1:c.125T>C
  • NM_001408432.1:c.125T>C
  • NM_001408433.1:c.125T>C
  • NM_001408434.1:c.125T>C
  • NM_001408435.1:c.125T>C
  • NM_001408436.1:c.125T>C
  • NM_001408437.1:c.125T>C
  • NM_001408438.1:c.125T>C
  • NM_001408439.1:c.125T>C
  • NM_001408440.1:c.125T>C
  • NM_001408441.1:c.125T>C
  • NM_001408442.1:c.125T>C
  • NM_001408443.1:c.125T>C
  • NM_001408444.1:c.125T>C
  • NM_001408445.1:c.125T>C
  • NM_001408446.1:c.125T>C
  • NM_001408447.1:c.125T>C
  • NM_001408448.1:c.125T>C
  • NM_001408450.1:c.125T>C
  • NM_001408452.1:c.-17T>C
  • NM_001408453.1:c.-17T>C
  • NM_001408455.1:c.-133T>C
  • NM_001408456.1:c.-133T>C
  • NM_001408458.1:c.-17T>C
  • NM_001408462.1:c.-17T>C
  • NM_001408463.1:c.-17T>C
  • NM_001408465.1:c.-137T>C
  • NM_001408466.1:c.-17T>C
  • NM_001408468.1:c.-133T>C
  • NM_001408469.1:c.-17T>C
  • NM_001408470.1:c.-17T>C
  • NM_001408472.1:c.125T>C
  • NM_001408473.1:c.125T>C
  • NM_001408474.1:c.125T>C
  • NM_001408475.1:c.125T>C
  • NM_001408476.1:c.125T>C
  • NM_001408478.1:c.-64T>C
  • NM_001408479.1:c.-64T>C
  • NM_001408480.1:c.-64T>C
  • NM_001408481.1:c.-64T>C
  • NM_001408482.1:c.-64T>C
  • NM_001408483.1:c.-64T>C
  • NM_001408484.1:c.-64T>C
  • NM_001408485.1:c.-64T>C
  • NM_001408489.1:c.-64T>C
  • NM_001408490.1:c.-64T>C
  • NM_001408491.1:c.-64T>C
  • NM_001408492.1:c.-180T>C
  • NM_001408493.1:c.-64T>C
  • NM_001408494.1:c.125T>C
  • NM_001408495.1:c.125T>C
  • NM_001408497.1:c.-17T>C
  • NM_001408499.1:c.-17T>C
  • NM_001408500.1:c.-17T>C
  • NM_001408501.1:c.-133T>C
  • NM_001408502.1:c.-64T>C
  • NM_001408503.1:c.-17T>C
  • NM_001408504.1:c.-17T>C
  • NM_001408505.1:c.-17T>C
  • NM_001408506.1:c.-64T>C
  • NM_001408507.1:c.-64T>C
  • NM_001408508.1:c.-64T>C
  • NM_001408509.1:c.-64T>C
  • NM_001408510.1:c.-179T>C
  • NM_001408512.1:c.-179T>C
  • NM_001408513.1:c.-64T>C
  • NM_001408514.1:c.-64T>C
  • NM_007294.4:c.125T>CMANE SELECT
  • NM_007297.4:c.-8+8282T>C
  • NM_007298.4:c.125T>C
  • NM_007299.4:c.125T>C
  • NM_007300.4:c.125T>C
  • NM_007304.2:c.125T>C
  • NP_001394510.1:p.Ile42Thr
  • NP_001394511.1:p.Ile42Thr
  • NP_001394512.1:p.Ile42Thr
  • NP_001394514.1:p.Ile42Thr
  • NP_001394516.1:p.Ile42Thr
  • NP_001394519.1:p.Ile42Thr
  • NP_001394520.1:p.Ile42Thr
  • NP_001394522.1:p.Ile42Thr
  • NP_001394523.1:p.Ile42Thr
  • NP_001394525.1:p.Ile42Thr
  • NP_001394526.1:p.Ile42Thr
  • NP_001394527.1:p.Ile42Thr
  • NP_001394531.1:p.Ile42Thr
  • NP_001394532.1:p.Ile42Thr
  • NP_001394534.1:p.Ile42Thr
  • NP_001394539.1:p.Ile42Thr
  • NP_001394540.1:p.Ile42Thr
  • NP_001394541.1:p.Ile42Thr
  • NP_001394542.1:p.Ile42Thr
  • NP_001394543.1:p.Ile42Thr
  • NP_001394544.1:p.Ile42Thr
  • NP_001394545.1:p.Ile42Thr
  • NP_001394546.1:p.Ile42Thr
  • NP_001394547.1:p.Ile42Thr
  • NP_001394548.1:p.Ile42Thr
  • NP_001394549.1:p.Ile42Thr
  • NP_001394550.1:p.Ile42Thr
  • NP_001394551.1:p.Ile42Thr
  • NP_001394552.1:p.Ile42Thr
  • NP_001394553.1:p.Ile42Thr
  • NP_001394554.1:p.Ile42Thr
  • NP_001394555.1:p.Ile42Thr
  • NP_001394556.1:p.Ile42Thr
  • NP_001394557.1:p.Ile42Thr
  • NP_001394558.1:p.Ile42Thr
  • NP_001394559.1:p.Ile42Thr
  • NP_001394560.1:p.Ile42Thr
  • NP_001394561.1:p.Ile42Thr
  • NP_001394562.1:p.Ile42Thr
  • NP_001394563.1:p.Ile42Thr
  • NP_001394564.1:p.Ile42Thr
  • NP_001394565.1:p.Ile42Thr
  • NP_001394566.1:p.Ile42Thr
  • NP_001394567.1:p.Ile42Thr
  • NP_001394568.1:p.Ile42Thr
  • NP_001394569.1:p.Ile42Thr
  • NP_001394570.1:p.Ile42Thr
  • NP_001394571.1:p.Ile42Thr
  • NP_001394573.1:p.Ile42Thr
  • NP_001394574.1:p.Ile42Thr
  • NP_001394575.1:p.Ile42Thr
  • NP_001394576.1:p.Ile42Thr
  • NP_001394577.1:p.Ile42Thr
  • NP_001394578.1:p.Ile42Thr
  • NP_001394581.1:p.Ile42Thr
  • NP_001394582.1:p.Ile42Thr
  • NP_001394583.1:p.Ile42Thr
  • NP_001394584.1:p.Ile42Thr
  • NP_001394585.1:p.Ile42Thr
  • NP_001394586.1:p.Ile42Thr
  • NP_001394587.1:p.Ile42Thr
  • NP_001394588.1:p.Ile42Thr
  • NP_001394589.1:p.Ile42Thr
  • NP_001394590.1:p.Ile42Thr
  • NP_001394591.1:p.Ile42Thr
  • NP_001394592.1:p.Ile42Thr
  • NP_001394593.1:p.Ile42Thr
  • NP_001394594.1:p.Ile42Thr
  • NP_001394595.1:p.Ile42Thr
  • NP_001394596.1:p.Ile42Thr
  • NP_001394597.1:p.Ile42Thr
  • NP_001394598.1:p.Ile42Thr
  • NP_001394599.1:p.Ile42Thr
  • NP_001394600.1:p.Ile42Thr
  • NP_001394601.1:p.Ile42Thr
  • NP_001394602.1:p.Ile42Thr
  • NP_001394603.1:p.Ile42Thr
  • NP_001394604.1:p.Ile42Thr
  • NP_001394605.1:p.Ile42Thr
  • NP_001394606.1:p.Ile42Thr
  • NP_001394607.1:p.Ile42Thr
  • NP_001394608.1:p.Ile42Thr
  • NP_001394609.1:p.Ile42Thr
  • NP_001394610.1:p.Ile42Thr
  • NP_001394611.1:p.Ile42Thr
  • NP_001394612.1:p.Ile42Thr
  • NP_001394613.1:p.Ile42Thr
  • NP_001394614.1:p.Ile42Thr
  • NP_001394615.1:p.Ile42Thr
  • NP_001394616.1:p.Ile42Thr
  • NP_001394617.1:p.Ile42Thr
  • NP_001394618.1:p.Ile42Thr
  • NP_001394619.1:p.Ile42Thr
  • NP_001394620.1:p.Ile42Thr
  • NP_001394783.1:p.Ile42Thr
  • NP_001394787.1:p.Ile42Thr
  • NP_001394788.1:p.Ile42Thr
  • NP_001394789.1:p.Ile42Thr
  • NP_001394790.1:p.Ile42Thr
  • NP_001394791.1:p.Ile42Thr
  • NP_001394792.1:p.Ile42Thr
  • NP_001394803.1:p.Ile42Thr
  • NP_001394804.1:p.Ile42Thr
  • NP_001394848.1:p.Ile42Thr
  • NP_001394866.1:p.Ile42Thr
  • NP_001394867.1:p.Ile42Thr
  • NP_001394868.1:p.Ile42Thr
  • NP_001394869.1:p.Ile42Thr
  • NP_001394870.1:p.Ile42Thr
  • NP_001394897.1:p.Ile42Thr
  • NP_001394898.1:p.Ile42Thr
  • NP_001394899.1:p.Ile42Thr
  • NP_001394900.1:p.Ile42Thr
  • NP_001394901.1:p.Ile42Thr
  • NP_001394902.1:p.Ile42Thr
  • NP_001394903.1:p.Ile42Thr
  • NP_001394904.1:p.Ile42Thr
  • NP_001394905.1:p.Ile42Thr
  • NP_001394906.1:p.Ile42Thr
  • NP_001394907.1:p.Ile42Thr
  • NP_001394908.1:p.Ile42Thr
  • NP_001394909.1:p.Ile42Thr
  • NP_001394910.1:p.Ile42Thr
  • NP_001394911.1:p.Ile42Thr
  • NP_001394912.1:p.Ile42Thr
  • NP_001394913.1:p.Ile42Thr
  • NP_001394914.1:p.Ile42Thr
  • NP_001394915.1:p.Ile42Thr
  • NP_001394919.1:p.Ile42Thr
  • NP_001394920.1:p.Ile42Thr
  • NP_001394921.1:p.Ile42Thr
  • NP_001394922.1:p.Ile42Thr
  • NP_001395321.1:p.Ile42Thr
  • NP_001395325.1:p.Ile42Thr
  • NP_001395326.1:p.Ile42Thr
  • NP_001395327.1:p.Ile42Thr
  • NP_001395328.1:p.Ile42Thr
  • NP_001395329.1:p.Ile42Thr
  • NP_001395330.1:p.Ile42Thr
  • NP_001395331.1:p.Ile42Thr
  • NP_001395332.1:p.Ile42Thr
  • NP_001395333.1:p.Ile42Thr
  • NP_001395335.1:p.Ile42Thr
  • NP_001395336.1:p.Ile42Thr
  • NP_001395337.1:p.Ile42Thr
  • NP_001395338.1:p.Ile42Thr
  • NP_001395340.1:p.Ile42Thr
  • NP_001395341.1:p.Ile42Thr
  • NP_001395342.1:p.Ile42Thr
  • NP_001395343.1:p.Ile42Thr
  • NP_001395344.1:p.Ile42Thr
  • NP_001395345.1:p.Ile42Thr
  • NP_001395347.1:p.Ile42Thr
  • NP_001395348.1:p.Ile42Thr
  • NP_001395349.1:p.Ile42Thr
  • NP_001395350.1:p.Ile42Thr
  • NP_001395351.1:p.Ile42Thr
  • NP_001395352.1:p.Ile42Thr
  • NP_001395353.1:p.Ile42Thr
  • NP_001395354.1:p.Ile42Thr
  • NP_001395355.1:p.Ile42Thr
  • NP_001395356.1:p.Ile42Thr
  • NP_001395357.1:p.Ile42Thr
  • NP_001395358.1:p.Ile42Thr
  • NP_001395359.1:p.Ile42Thr
  • NP_001395360.1:p.Ile42Thr
  • NP_001395361.1:p.Ile42Thr
  • NP_001395362.1:p.Ile42Thr
  • NP_001395363.1:p.Ile42Thr
  • NP_001395364.1:p.Ile42Thr
  • NP_001395365.1:p.Ile42Thr
  • NP_001395366.1:p.Ile42Thr
  • NP_001395367.1:p.Ile42Thr
  • NP_001395368.1:p.Ile42Thr
  • NP_001395369.1:p.Ile42Thr
  • NP_001395370.1:p.Ile42Thr
  • NP_001395371.1:p.Ile42Thr
  • NP_001395372.1:p.Ile42Thr
  • NP_001395373.1:p.Ile42Thr
  • NP_001395374.1:p.Ile42Thr
  • NP_001395375.1:p.Ile42Thr
  • NP_001395376.1:p.Ile42Thr
  • NP_001395377.1:p.Ile42Thr
  • NP_001395379.1:p.Ile42Thr
  • NP_001395401.1:p.Ile42Thr
  • NP_001395402.1:p.Ile42Thr
  • NP_001395403.1:p.Ile42Thr
  • NP_001395404.1:p.Ile42Thr
  • NP_001395405.1:p.Ile42Thr
  • NP_001395423.1:p.Ile42Thr
  • NP_001395424.1:p.Ile42Thr
  • NP_009225.1:p.Ile42Thr
  • NP_009225.1:p.Ile42Thr
  • NP_009229.2:p.Ile42Thr
  • NP_009229.2:p.Ile42Thr
  • NP_009230.2:p.Ile42Thr
  • NP_009231.2:p.Ile42Thr
  • NP_009235.2:p.Ile42Thr
  • LRG_292t1:c.125T>C
  • LRG_292:g.102249T>C
  • LRG_292p1:p.Ile42Thr
  • NC_000017.10:g.41267752A>G
  • NC_000017.10:g.41267752A>G
  • NM_007294.3:c.125T>C
  • NM_007298.3:c.125T>C
  • NR_027676.2:n.327T>C
Protein change:
I42T
Links:
dbSNP: rs2055246954
NCBI 1000 Genomes Browser:
rs2055246954
Molecular consequence:
  • NM_007297.4:c.-8+8282T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.125T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.327T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005025725Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 7, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Ambry Genetics, SCV005025725.1

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

Description

The p.I42T variant (also known as c.125T>C), located in coding exon 2 of the BRCA1 gene, results from a T to C substitution at nucleotide position 125. The isoleucine at codon 42 is replaced by threonine, an amino acid with similar properties. One functional study found that this nucleotide substitution is functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Jul 15, 2024