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 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.125T>C, a MISSENSE variant, produced a function score of -0.08, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV005025725 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Mar 7, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical 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.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Ambry Genetics, SCV005025725.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jul 15, 2024