NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr) AND Breast-ovarian cancer, familial, susceptibility to, 1
- 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:
- RCV000030983.18
Allele description [Variation Report for NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)]
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)
- 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.134A>C (p.Lys45Thr)
- Other names:
- p.K45T:AAA>ACA
- HGVS:
- NC_000017.11:g.43115726T>G
- NG_005905.2:g.102258A>C
- NM_001407571.1:c.-55A>C
- NM_001407581.1:c.134A>C
- NM_001407582.1:c.134A>C
- NM_001407583.1:c.134A>C
- NM_001407585.1:c.134A>C
- NM_001407587.1:c.134A>C
- NM_001407590.1:c.134A>C
- NM_001407591.1:c.134A>C
- NM_001407593.1:c.134A>C
- NM_001407594.1:c.134A>C
- NM_001407596.1:c.134A>C
- NM_001407597.1:c.134A>C
- NM_001407598.1:c.134A>C
- NM_001407602.1:c.134A>C
- NM_001407603.1:c.134A>C
- NM_001407605.1:c.134A>C
- NM_001407610.1:c.134A>C
- NM_001407611.1:c.134A>C
- NM_001407612.1:c.134A>C
- NM_001407613.1:c.134A>C
- NM_001407614.1:c.134A>C
- NM_001407615.1:c.134A>C
- NM_001407616.1:c.134A>C
- NM_001407617.1:c.134A>C
- NM_001407618.1:c.134A>C
- NM_001407619.1:c.134A>C
- NM_001407620.1:c.134A>C
- NM_001407621.1:c.134A>C
- NM_001407622.1:c.134A>C
- NM_001407623.1:c.134A>C
- NM_001407624.1:c.134A>C
- NM_001407625.1:c.134A>C
- NM_001407626.1:c.134A>C
- NM_001407627.1:c.134A>C
- NM_001407628.1:c.134A>C
- NM_001407629.1:c.134A>C
- NM_001407630.1:c.134A>C
- NM_001407631.1:c.134A>C
- NM_001407632.1:c.134A>C
- NM_001407633.1:c.134A>C
- NM_001407634.1:c.134A>C
- NM_001407635.1:c.134A>C
- NM_001407636.1:c.134A>C
- NM_001407637.1:c.134A>C
- NM_001407638.1:c.134A>C
- NM_001407639.1:c.134A>C
- NM_001407640.1:c.134A>C
- NM_001407641.1:c.134A>C
- NM_001407642.1:c.134A>C
- NM_001407644.1:c.134A>C
- NM_001407645.1:c.134A>C
- NM_001407646.1:c.134A>C
- NM_001407647.1:c.134A>C
- NM_001407648.1:c.134A>C
- NM_001407649.1:c.134A>C
- NM_001407652.1:c.134A>C
- NM_001407653.1:c.134A>C
- NM_001407654.1:c.134A>C
- NM_001407655.1:c.134A>C
- NM_001407656.1:c.134A>C
- NM_001407657.1:c.134A>C
- NM_001407658.1:c.134A>C
- NM_001407659.1:c.134A>C
- NM_001407660.1:c.134A>C
- NM_001407661.1:c.134A>C
- NM_001407662.1:c.134A>C
- NM_001407663.1:c.134A>C
- NM_001407664.1:c.134A>C
- NM_001407665.1:c.134A>C
- NM_001407666.1:c.134A>C
- NM_001407667.1:c.134A>C
- NM_001407668.1:c.134A>C
- NM_001407669.1:c.134A>C
- NM_001407670.1:c.134A>C
- NM_001407671.1:c.134A>C
- NM_001407672.1:c.134A>C
- NM_001407673.1:c.134A>C
- NM_001407674.1:c.134A>C
- NM_001407675.1:c.134A>C
- NM_001407676.1:c.134A>C
- NM_001407677.1:c.134A>C
- NM_001407678.1:c.134A>C
- NM_001407679.1:c.134A>C
- NM_001407680.1:c.134A>C
- NM_001407681.1:c.134A>C
- NM_001407682.1:c.134A>C
- NM_001407683.1:c.134A>C
- NM_001407684.1:c.134A>C
- NM_001407685.1:c.134A>C
- NM_001407686.1:c.134A>C
- NM_001407687.1:c.134A>C
- NM_001407688.1:c.134A>C
- NM_001407689.1:c.134A>C
- NM_001407690.1:c.134A>C
- NM_001407691.1:c.134A>C
- NM_001407694.1:c.-124A>C
- NM_001407695.1:c.-128A>C
- NM_001407696.1:c.-124A>C
- NM_001407697.1:c.-8A>C
- NM_001407724.1:c.-124A>C
- NM_001407725.1:c.-8A>C
- NM_001407727.1:c.-124A>C
- NM_001407728.1:c.-8A>C
- NM_001407729.1:c.-8A>C
- NM_001407730.1:c.-8A>C
- NM_001407731.1:c.-124A>C
- NM_001407733.1:c.-124A>C
- NM_001407734.1:c.-8A>C
- NM_001407735.1:c.-8A>C
- NM_001407737.1:c.-8A>C
- NM_001407739.1:c.-8A>C
- NM_001407740.1:c.-8A>C
- NM_001407741.1:c.-8A>C
- NM_001407743.1:c.-8A>C
- NM_001407745.1:c.-8A>C
- NM_001407746.1:c.-124A>C
- NM_001407748.1:c.-8A>C
- NM_001407749.1:c.-124A>C
- NM_001407752.1:c.-8A>C
- NM_001407838.1:c.-8A>C
- NM_001407839.1:c.-8A>C
- NM_001407842.1:c.-124A>C
- NM_001407843.1:c.-124A>C
- NM_001407844.1:c.-8A>C
- NM_001407846.1:c.-8A>C
- NM_001407847.1:c.-8A>C
- NM_001407848.1:c.-8A>C
- NM_001407850.1:c.-8A>C
- NM_001407851.1:c.-8A>C
- NM_001407853.1:c.-55A>C
- NM_001407854.1:c.134A>C
- NM_001407858.1:c.134A>C
- NM_001407859.1:c.134A>C
- NM_001407860.1:c.134A>C
- NM_001407861.1:c.134A>C
- NM_001407862.1:c.134A>C
- NM_001407863.1:c.134A>C
- NM_001407874.1:c.134A>C
- NM_001407875.1:c.134A>C
- NM_001407879.1:c.-55A>C
- NM_001407882.1:c.-55A>C
- NM_001407884.1:c.-55A>C
- NM_001407885.1:c.-55A>C
- NM_001407886.1:c.-55A>C
- NM_001407887.1:c.-55A>C
- NM_001407889.1:c.-171A>C
- NM_001407894.1:c.-55A>C
- NM_001407895.1:c.-55A>C
- NM_001407896.1:c.-55A>C
- NM_001407897.1:c.-55A>C
- NM_001407899.1:c.-55A>C
- NM_001407900.1:c.-171A>C
- NM_001407904.1:c.-55A>C
- NM_001407906.1:c.-55A>C
- NM_001407907.1:c.-55A>C
- NM_001407908.1:c.-55A>C
- NM_001407909.1:c.-55A>C
- NM_001407910.1:c.-55A>C
- NM_001407915.1:c.-55A>C
- NM_001407916.1:c.-55A>C
- NM_001407917.1:c.-55A>C
- NM_001407918.1:c.-55A>C
- NM_001407919.1:c.134A>C
- NM_001407920.1:c.-8A>C
- NM_001407921.1:c.-8A>C
- NM_001407922.1:c.-8A>C
- NM_001407923.1:c.-8A>C
- NM_001407926.1:c.-8A>C
- NM_001407927.1:c.-8A>C
- NM_001407930.1:c.-124A>C
- NM_001407933.1:c.-8A>C
- NM_001407934.1:c.-8A>C
- NM_001407935.1:c.-8A>C
- NM_001407937.1:c.134A>C
- NM_001407938.1:c.134A>C
- NM_001407939.1:c.134A>C
- NM_001407940.1:c.134A>C
- NM_001407941.1:c.134A>C
- NM_001407942.1:c.-124A>C
- NM_001407943.1:c.-8A>C
- NM_001407944.1:c.-8A>C
- NM_001407946.1:c.-55A>C
- NM_001407947.1:c.-55A>C
- NM_001407948.1:c.-55A>C
- NM_001407949.1:c.-55A>C
- NM_001407950.1:c.-55A>C
- NM_001407951.1:c.-55A>C
- NM_001407952.1:c.-55A>C
- NM_001407953.1:c.-55A>C
- NM_001407954.1:c.-55A>C
- NM_001407955.1:c.-55A>C
- NM_001407956.1:c.-55A>C
- NM_001407957.1:c.-55A>C
- NM_001407958.1:c.-55A>C
- NM_001407960.1:c.-170A>C
- NM_001407962.1:c.-170A>C
- NM_001407964.1:c.-8A>C
- NM_001407965.1:c.-286A>C
- NM_001407968.1:c.134A>C
- NM_001407969.1:c.134A>C
- NM_001407970.1:c.134A>C
- NM_001407971.1:c.134A>C
- NM_001407972.1:c.134A>C
- NM_001407973.1:c.134A>C
- NM_001407974.1:c.134A>C
- NM_001407975.1:c.134A>C
- NM_001407976.1:c.134A>C
- NM_001407977.1:c.134A>C
- NM_001407978.1:c.134A>C
- NM_001407979.1:c.134A>C
- NM_001407980.1:c.134A>C
- NM_001407981.1:c.134A>C
- NM_001407982.1:c.134A>C
- NM_001407983.1:c.134A>C
- NM_001407984.1:c.134A>C
- NM_001407985.1:c.134A>C
- NM_001407986.1:c.134A>C
- NM_001407990.1:c.134A>C
- NM_001407991.1:c.134A>C
- NM_001407992.1:c.134A>C
- NM_001407993.1:c.134A>C
- NM_001408392.1:c.134A>C
- NM_001408396.1:c.134A>C
- NM_001408397.1:c.134A>C
- NM_001408398.1:c.134A>C
- NM_001408399.1:c.134A>C
- NM_001408400.1:c.134A>C
- NM_001408401.1:c.134A>C
- NM_001408402.1:c.134A>C
- NM_001408403.1:c.134A>C
- NM_001408404.1:c.134A>C
- NM_001408406.1:c.134A>C
- NM_001408407.1:c.134A>C
- NM_001408408.1:c.134A>C
- NM_001408409.1:c.134A>C
- NM_001408410.1:c.-8A>C
- NM_001408411.1:c.134A>C
- NM_001408412.1:c.134A>C
- NM_001408413.1:c.134A>C
- NM_001408414.1:c.134A>C
- NM_001408415.1:c.134A>C
- NM_001408416.1:c.134A>C
- NM_001408418.1:c.134A>C
- NM_001408419.1:c.134A>C
- NM_001408420.1:c.134A>C
- NM_001408421.1:c.134A>C
- NM_001408422.1:c.134A>C
- NM_001408423.1:c.134A>C
- NM_001408424.1:c.134A>C
- NM_001408425.1:c.134A>C
- NM_001408426.1:c.134A>C
- NM_001408427.1:c.134A>C
- NM_001408428.1:c.134A>C
- NM_001408429.1:c.134A>C
- NM_001408430.1:c.134A>C
- NM_001408431.1:c.134A>C
- NM_001408432.1:c.134A>C
- NM_001408433.1:c.134A>C
- NM_001408434.1:c.134A>C
- NM_001408435.1:c.134A>C
- NM_001408436.1:c.134A>C
- NM_001408437.1:c.134A>C
- NM_001408438.1:c.134A>C
- NM_001408439.1:c.134A>C
- NM_001408440.1:c.134A>C
- NM_001408441.1:c.134A>C
- NM_001408442.1:c.134A>C
- NM_001408443.1:c.134A>C
- NM_001408444.1:c.134A>C
- NM_001408445.1:c.134A>C
- NM_001408446.1:c.134A>C
- NM_001408447.1:c.134A>C
- NM_001408448.1:c.134A>C
- NM_001408450.1:c.134A>C
- NM_001408452.1:c.-8A>C
- NM_001408453.1:c.-8A>C
- NM_001408455.1:c.-124A>C
- NM_001408456.1:c.-124A>C
- NM_001408458.1:c.-8A>C
- NM_001408462.1:c.-8A>C
- NM_001408463.1:c.-8A>C
- NM_001408465.1:c.-128A>C
- NM_001408466.1:c.-8A>C
- NM_001408468.1:c.-124A>C
- NM_001408469.1:c.-8A>C
- NM_001408470.1:c.-8A>C
- NM_001408472.1:c.134A>C
- NM_001408473.1:c.134A>C
- NM_001408474.1:c.134A>C
- NM_001408475.1:c.134A>C
- NM_001408476.1:c.134A>C
- NM_001408478.1:c.-55A>C
- NM_001408479.1:c.-55A>C
- NM_001408480.1:c.-55A>C
- NM_001408481.1:c.-55A>C
- NM_001408482.1:c.-55A>C
- NM_001408483.1:c.-55A>C
- NM_001408484.1:c.-55A>C
- NM_001408485.1:c.-55A>C
- NM_001408489.1:c.-55A>C
- NM_001408490.1:c.-55A>C
- NM_001408491.1:c.-55A>C
- NM_001408492.1:c.-171A>C
- NM_001408493.1:c.-55A>C
- NM_001408494.1:c.134A>C
- NM_001408495.1:c.134A>C
- NM_001408497.1:c.-8A>C
- NM_001408499.1:c.-8A>C
- NM_001408500.1:c.-8A>C
- NM_001408501.1:c.-124A>C
- NM_001408502.1:c.-55A>C
- NM_001408503.1:c.-8A>C
- NM_001408504.1:c.-8A>C
- NM_001408505.1:c.-8A>C
- NM_001408506.1:c.-55A>C
- NM_001408507.1:c.-55A>C
- NM_001408508.1:c.-55A>C
- NM_001408509.1:c.-55A>C
- NM_001408510.1:c.-170A>C
- NM_001408512.1:c.-170A>C
- NM_001408513.1:c.-55A>C
- NM_001408514.1:c.-55A>C
- NM_007294.4:c.134A>CMANE SELECT
- NM_007297.4:c.-8+8291A>C
- NM_007298.4:c.134A>C
- NM_007299.4:c.134A>C
- NM_007300.4:c.134A>C
- NM_007304.2:c.134A>C
- NP_001394510.1:p.Lys45Thr
- NP_001394511.1:p.Lys45Thr
- NP_001394512.1:p.Lys45Thr
- NP_001394514.1:p.Lys45Thr
- NP_001394516.1:p.Lys45Thr
- NP_001394519.1:p.Lys45Thr
- NP_001394520.1:p.Lys45Thr
- NP_001394522.1:p.Lys45Thr
- NP_001394523.1:p.Lys45Thr
- NP_001394525.1:p.Lys45Thr
- NP_001394526.1:p.Lys45Thr
- NP_001394527.1:p.Lys45Thr
- NP_001394531.1:p.Lys45Thr
- NP_001394532.1:p.Lys45Thr
- NP_001394534.1:p.Lys45Thr
- NP_001394539.1:p.Lys45Thr
- NP_001394540.1:p.Lys45Thr
- NP_001394541.1:p.Lys45Thr
- NP_001394542.1:p.Lys45Thr
- NP_001394543.1:p.Lys45Thr
- NP_001394544.1:p.Lys45Thr
- NP_001394545.1:p.Lys45Thr
- NP_001394546.1:p.Lys45Thr
- NP_001394547.1:p.Lys45Thr
- NP_001394548.1:p.Lys45Thr
- NP_001394549.1:p.Lys45Thr
- NP_001394550.1:p.Lys45Thr
- NP_001394551.1:p.Lys45Thr
- NP_001394552.1:p.Lys45Thr
- NP_001394553.1:p.Lys45Thr
- NP_001394554.1:p.Lys45Thr
- NP_001394555.1:p.Lys45Thr
- NP_001394556.1:p.Lys45Thr
- NP_001394557.1:p.Lys45Thr
- NP_001394558.1:p.Lys45Thr
- NP_001394559.1:p.Lys45Thr
- NP_001394560.1:p.Lys45Thr
- NP_001394561.1:p.Lys45Thr
- NP_001394562.1:p.Lys45Thr
- NP_001394563.1:p.Lys45Thr
- NP_001394564.1:p.Lys45Thr
- NP_001394565.1:p.Lys45Thr
- NP_001394566.1:p.Lys45Thr
- NP_001394567.1:p.Lys45Thr
- NP_001394568.1:p.Lys45Thr
- NP_001394569.1:p.Lys45Thr
- NP_001394570.1:p.Lys45Thr
- NP_001394571.1:p.Lys45Thr
- NP_001394573.1:p.Lys45Thr
- NP_001394574.1:p.Lys45Thr
- NP_001394575.1:p.Lys45Thr
- NP_001394576.1:p.Lys45Thr
- NP_001394577.1:p.Lys45Thr
- NP_001394578.1:p.Lys45Thr
- NP_001394581.1:p.Lys45Thr
- NP_001394582.1:p.Lys45Thr
- NP_001394583.1:p.Lys45Thr
- NP_001394584.1:p.Lys45Thr
- NP_001394585.1:p.Lys45Thr
- NP_001394586.1:p.Lys45Thr
- NP_001394587.1:p.Lys45Thr
- NP_001394588.1:p.Lys45Thr
- NP_001394589.1:p.Lys45Thr
- NP_001394590.1:p.Lys45Thr
- NP_001394591.1:p.Lys45Thr
- NP_001394592.1:p.Lys45Thr
- NP_001394593.1:p.Lys45Thr
- NP_001394594.1:p.Lys45Thr
- NP_001394595.1:p.Lys45Thr
- NP_001394596.1:p.Lys45Thr
- NP_001394597.1:p.Lys45Thr
- NP_001394598.1:p.Lys45Thr
- NP_001394599.1:p.Lys45Thr
- NP_001394600.1:p.Lys45Thr
- NP_001394601.1:p.Lys45Thr
- NP_001394602.1:p.Lys45Thr
- NP_001394603.1:p.Lys45Thr
- NP_001394604.1:p.Lys45Thr
- NP_001394605.1:p.Lys45Thr
- NP_001394606.1:p.Lys45Thr
- NP_001394607.1:p.Lys45Thr
- NP_001394608.1:p.Lys45Thr
- NP_001394609.1:p.Lys45Thr
- NP_001394610.1:p.Lys45Thr
- NP_001394611.1:p.Lys45Thr
- NP_001394612.1:p.Lys45Thr
- NP_001394613.1:p.Lys45Thr
- NP_001394614.1:p.Lys45Thr
- NP_001394615.1:p.Lys45Thr
- NP_001394616.1:p.Lys45Thr
- NP_001394617.1:p.Lys45Thr
- NP_001394618.1:p.Lys45Thr
- NP_001394619.1:p.Lys45Thr
- NP_001394620.1:p.Lys45Thr
- NP_001394783.1:p.Lys45Thr
- NP_001394787.1:p.Lys45Thr
- NP_001394788.1:p.Lys45Thr
- NP_001394789.1:p.Lys45Thr
- NP_001394790.1:p.Lys45Thr
- NP_001394791.1:p.Lys45Thr
- NP_001394792.1:p.Lys45Thr
- NP_001394803.1:p.Lys45Thr
- NP_001394804.1:p.Lys45Thr
- NP_001394848.1:p.Lys45Thr
- NP_001394866.1:p.Lys45Thr
- NP_001394867.1:p.Lys45Thr
- NP_001394868.1:p.Lys45Thr
- NP_001394869.1:p.Lys45Thr
- NP_001394870.1:p.Lys45Thr
- NP_001394897.1:p.Lys45Thr
- NP_001394898.1:p.Lys45Thr
- NP_001394899.1:p.Lys45Thr
- NP_001394900.1:p.Lys45Thr
- NP_001394901.1:p.Lys45Thr
- NP_001394902.1:p.Lys45Thr
- NP_001394903.1:p.Lys45Thr
- NP_001394904.1:p.Lys45Thr
- NP_001394905.1:p.Lys45Thr
- NP_001394906.1:p.Lys45Thr
- NP_001394907.1:p.Lys45Thr
- NP_001394908.1:p.Lys45Thr
- NP_001394909.1:p.Lys45Thr
- NP_001394910.1:p.Lys45Thr
- NP_001394911.1:p.Lys45Thr
- NP_001394912.1:p.Lys45Thr
- NP_001394913.1:p.Lys45Thr
- NP_001394914.1:p.Lys45Thr
- NP_001394915.1:p.Lys45Thr
- NP_001394919.1:p.Lys45Thr
- NP_001394920.1:p.Lys45Thr
- NP_001394921.1:p.Lys45Thr
- NP_001394922.1:p.Lys45Thr
- NP_001395321.1:p.Lys45Thr
- NP_001395325.1:p.Lys45Thr
- NP_001395326.1:p.Lys45Thr
- NP_001395327.1:p.Lys45Thr
- NP_001395328.1:p.Lys45Thr
- NP_001395329.1:p.Lys45Thr
- NP_001395330.1:p.Lys45Thr
- NP_001395331.1:p.Lys45Thr
- NP_001395332.1:p.Lys45Thr
- NP_001395333.1:p.Lys45Thr
- NP_001395335.1:p.Lys45Thr
- NP_001395336.1:p.Lys45Thr
- NP_001395337.1:p.Lys45Thr
- NP_001395338.1:p.Lys45Thr
- NP_001395340.1:p.Lys45Thr
- NP_001395341.1:p.Lys45Thr
- NP_001395342.1:p.Lys45Thr
- NP_001395343.1:p.Lys45Thr
- NP_001395344.1:p.Lys45Thr
- NP_001395345.1:p.Lys45Thr
- NP_001395347.1:p.Lys45Thr
- NP_001395348.1:p.Lys45Thr
- NP_001395349.1:p.Lys45Thr
- NP_001395350.1:p.Lys45Thr
- NP_001395351.1:p.Lys45Thr
- NP_001395352.1:p.Lys45Thr
- NP_001395353.1:p.Lys45Thr
- NP_001395354.1:p.Lys45Thr
- NP_001395355.1:p.Lys45Thr
- NP_001395356.1:p.Lys45Thr
- NP_001395357.1:p.Lys45Thr
- NP_001395358.1:p.Lys45Thr
- NP_001395359.1:p.Lys45Thr
- NP_001395360.1:p.Lys45Thr
- NP_001395361.1:p.Lys45Thr
- NP_001395362.1:p.Lys45Thr
- NP_001395363.1:p.Lys45Thr
- NP_001395364.1:p.Lys45Thr
- NP_001395365.1:p.Lys45Thr
- NP_001395366.1:p.Lys45Thr
- NP_001395367.1:p.Lys45Thr
- NP_001395368.1:p.Lys45Thr
- NP_001395369.1:p.Lys45Thr
- NP_001395370.1:p.Lys45Thr
- NP_001395371.1:p.Lys45Thr
- NP_001395372.1:p.Lys45Thr
- NP_001395373.1:p.Lys45Thr
- NP_001395374.1:p.Lys45Thr
- NP_001395375.1:p.Lys45Thr
- NP_001395376.1:p.Lys45Thr
- NP_001395377.1:p.Lys45Thr
- NP_001395379.1:p.Lys45Thr
- NP_001395401.1:p.Lys45Thr
- NP_001395402.1:p.Lys45Thr
- NP_001395403.1:p.Lys45Thr
- NP_001395404.1:p.Lys45Thr
- NP_001395405.1:p.Lys45Thr
- NP_001395423.1:p.Lys45Thr
- NP_001395424.1:p.Lys45Thr
- NP_009225.1:p.Lys45Thr
- NP_009225.1:p.Lys45Thr
- NP_009229.2:p.Lys45Thr
- NP_009229.2:p.Lys45Thr
- NP_009230.2:p.Lys45Thr
- NP_009231.2:p.Lys45Thr
- NP_009235.2:p.Lys45Thr
- LRG_292t1:c.134A>C
- LRG_292:g.102258A>C
- LRG_292p1:p.Lys45Thr
- NC_000017.10:g.41267743T>G
- NM_007294.3:c.134A>C
- NM_007298.3:c.134A>C
- NR_027676.2:n.336A>C
- U14680.1:n.253A>C
- p.K45T
This HGVS expression did not pass validation- Nucleotide change:
- 253A>C
- Protein change:
- K45T
- Links:
- dbSNP: rs80356863
- NCBI 1000 Genomes Browser:
- rs80356863
- Molecular consequence:
- NM_007297.4:c.-8+8291A>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.134A>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.336A>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.134A>C, a MISSENSE variant, produced a function score of -0.7, 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.
- Observations:
- 7
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000053575 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Uncertain significance (May 3, 2010) | germline | clinical testing | |
SCV000144426 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (Feb 20, 2004) | germline | clinical testing | |
SCV000488132 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Uncertain significance (Feb 19, 2016) | unknown | clinical testing | PubMed (5) Counsyl Autosomal Dominant Disease Classification criteria (2015), |
SCV001237905 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV004823696 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely Benign (Sep 4, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | germline | not provided | 1 | not provided | not provided | 1 | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | 3 | not provided | not provided | 108544 | not provided | clinical testing |
Western European | germline | yes | 3 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.
Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J, Larionov V.
Hum Mol Genet. 2004 Nov 15;13(22):2737-51. Epub 2004 Sep 22.
- PMID:
- 15385441
Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
Mucaki EJ, Ainsworth P, Rogan PK.
Hum Mutat. 2011 Jul;32(7):735-42. doi: 10.1002/humu.21513. Epub 2011 May 5.
- PMID:
- 21523855
Details of each submission
From Sharing Clinical Reports Project (SCRP), SCV000053575.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | 1 | not provided | not provided | not provided | not provided | not provided | not provided |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144426.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Western European | 3 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 3 | not provided | not provided | not provided |
From Counsyl, SCV000488132.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (5) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Brotman Baty Institute, University of Washington, SCV001237905.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From All of Us Research Program, National Institutes of Health, SCV004823696.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 3 | not provided | not provided | clinical testing | PubMed (5) |
Description
This missense variant replaces lysine with threonine at codon 45 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies reported conflicting variant impact on BRCA1 function from loss of ubiquitin ligase activity (PMID: 16403807) to no impact on a haploid human cell proliferation assay (PMID: 30209399). This variant has been observed in an individual affected with unilateral breast cancer (PMID: 20104584) and an individual age 70 years or older without cancer (FLOSSIES database). This variant also has been reported in a multifactorial analysis with family history likelihood ratio for pathogenicity of 0.0387 (PMID: 31131967). This variant has been identified in 2/250502 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 108544 | not provided | not provided | 3 | not provided | not provided | not provided |
Last Updated: Oct 8, 2024