NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (10 submissions)
- Last evaluated:
- Aug 10, 2015
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- 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:
- RCV000111838.19
Allele description [Variation Report for NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)]
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)
- 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.130T>A (p.Cys44Ser)
- Other names:
- 249T>A
- HGVS:
- NC_000017.11:g.43115730A>T
- NG_005905.2:g.102254T>A
- NM_001407571.1:c.-59T>A
- NM_001407581.1:c.130T>A
- NM_001407582.1:c.130T>A
- NM_001407583.1:c.130T>A
- NM_001407585.1:c.130T>A
- NM_001407587.1:c.130T>A
- NM_001407590.1:c.130T>A
- NM_001407591.1:c.130T>A
- NM_001407593.1:c.130T>A
- NM_001407594.1:c.130T>A
- NM_001407596.1:c.130T>A
- NM_001407597.1:c.130T>A
- NM_001407598.1:c.130T>A
- NM_001407602.1:c.130T>A
- NM_001407603.1:c.130T>A
- NM_001407605.1:c.130T>A
- NM_001407610.1:c.130T>A
- NM_001407611.1:c.130T>A
- NM_001407612.1:c.130T>A
- NM_001407613.1:c.130T>A
- NM_001407614.1:c.130T>A
- NM_001407615.1:c.130T>A
- NM_001407616.1:c.130T>A
- NM_001407617.1:c.130T>A
- NM_001407618.1:c.130T>A
- NM_001407619.1:c.130T>A
- NM_001407620.1:c.130T>A
- NM_001407621.1:c.130T>A
- NM_001407622.1:c.130T>A
- NM_001407623.1:c.130T>A
- NM_001407624.1:c.130T>A
- NM_001407625.1:c.130T>A
- NM_001407626.1:c.130T>A
- NM_001407627.1:c.130T>A
- NM_001407628.1:c.130T>A
- NM_001407629.1:c.130T>A
- NM_001407630.1:c.130T>A
- NM_001407631.1:c.130T>A
- NM_001407632.1:c.130T>A
- NM_001407633.1:c.130T>A
- NM_001407634.1:c.130T>A
- NM_001407635.1:c.130T>A
- NM_001407636.1:c.130T>A
- NM_001407637.1:c.130T>A
- NM_001407638.1:c.130T>A
- NM_001407639.1:c.130T>A
- NM_001407640.1:c.130T>A
- NM_001407641.1:c.130T>A
- NM_001407642.1:c.130T>A
- NM_001407644.1:c.130T>A
- NM_001407645.1:c.130T>A
- NM_001407646.1:c.130T>A
- NM_001407647.1:c.130T>A
- NM_001407648.1:c.130T>A
- NM_001407649.1:c.130T>A
- NM_001407652.1:c.130T>A
- NM_001407653.1:c.130T>A
- NM_001407654.1:c.130T>A
- NM_001407655.1:c.130T>A
- NM_001407656.1:c.130T>A
- NM_001407657.1:c.130T>A
- NM_001407658.1:c.130T>A
- NM_001407659.1:c.130T>A
- NM_001407660.1:c.130T>A
- NM_001407661.1:c.130T>A
- NM_001407662.1:c.130T>A
- NM_001407663.1:c.130T>A
- NM_001407664.1:c.130T>A
- NM_001407665.1:c.130T>A
- NM_001407666.1:c.130T>A
- NM_001407667.1:c.130T>A
- NM_001407668.1:c.130T>A
- NM_001407669.1:c.130T>A
- NM_001407670.1:c.130T>A
- NM_001407671.1:c.130T>A
- NM_001407672.1:c.130T>A
- NM_001407673.1:c.130T>A
- NM_001407674.1:c.130T>A
- NM_001407675.1:c.130T>A
- NM_001407676.1:c.130T>A
- NM_001407677.1:c.130T>A
- NM_001407678.1:c.130T>A
- NM_001407679.1:c.130T>A
- NM_001407680.1:c.130T>A
- NM_001407681.1:c.130T>A
- NM_001407682.1:c.130T>A
- NM_001407683.1:c.130T>A
- NM_001407684.1:c.130T>A
- NM_001407685.1:c.130T>A
- NM_001407686.1:c.130T>A
- NM_001407687.1:c.130T>A
- NM_001407688.1:c.130T>A
- NM_001407689.1:c.130T>A
- NM_001407690.1:c.130T>A
- NM_001407691.1:c.130T>A
- NM_001407694.1:c.-128T>A
- NM_001407695.1:c.-132T>A
- NM_001407696.1:c.-128T>A
- NM_001407697.1:c.-12T>A
- NM_001407724.1:c.-128T>A
- NM_001407725.1:c.-12T>A
- NM_001407727.1:c.-128T>A
- NM_001407728.1:c.-12T>A
- NM_001407729.1:c.-12T>A
- NM_001407730.1:c.-12T>A
- NM_001407731.1:c.-128T>A
- NM_001407733.1:c.-128T>A
- NM_001407734.1:c.-12T>A
- NM_001407735.1:c.-12T>A
- NM_001407737.1:c.-12T>A
- NM_001407739.1:c.-12T>A
- NM_001407740.1:c.-12T>A
- NM_001407741.1:c.-12T>A
- NM_001407743.1:c.-12T>A
- NM_001407745.1:c.-12T>A
- NM_001407746.1:c.-128T>A
- NM_001407748.1:c.-12T>A
- NM_001407749.1:c.-128T>A
- NM_001407752.1:c.-12T>A
- NM_001407838.1:c.-12T>A
- NM_001407839.1:c.-12T>A
- NM_001407841.1:c.-8T>A
- NM_001407842.1:c.-128T>A
- NM_001407843.1:c.-128T>A
- NM_001407844.1:c.-12T>A
- NM_001407846.1:c.-12T>A
- NM_001407847.1:c.-12T>A
- NM_001407848.1:c.-12T>A
- NM_001407850.1:c.-12T>A
- NM_001407851.1:c.-12T>A
- NM_001407853.1:c.-59T>A
- NM_001407854.1:c.130T>A
- NM_001407858.1:c.130T>A
- NM_001407859.1:c.130T>A
- NM_001407860.1:c.130T>A
- NM_001407861.1:c.130T>A
- NM_001407862.1:c.130T>A
- NM_001407863.1:c.130T>A
- NM_001407874.1:c.130T>A
- NM_001407875.1:c.130T>A
- NM_001407879.1:c.-59T>A
- NM_001407882.1:c.-59T>A
- NM_001407884.1:c.-59T>A
- NM_001407885.1:c.-59T>A
- NM_001407886.1:c.-59T>A
- NM_001407887.1:c.-59T>A
- NM_001407889.1:c.-175T>A
- NM_001407894.1:c.-59T>A
- NM_001407895.1:c.-59T>A
- NM_001407896.1:c.-59T>A
- NM_001407897.1:c.-59T>A
- NM_001407899.1:c.-59T>A
- NM_001407900.1:c.-175T>A
- NM_001407904.1:c.-59T>A
- NM_001407906.1:c.-59T>A
- NM_001407907.1:c.-59T>A
- NM_001407908.1:c.-59T>A
- NM_001407909.1:c.-59T>A
- NM_001407910.1:c.-59T>A
- NM_001407915.1:c.-59T>A
- NM_001407916.1:c.-59T>A
- NM_001407917.1:c.-59T>A
- NM_001407918.1:c.-59T>A
- NM_001407919.1:c.130T>A
- NM_001407920.1:c.-12T>A
- NM_001407921.1:c.-12T>A
- NM_001407922.1:c.-12T>A
- NM_001407923.1:c.-12T>A
- NM_001407926.1:c.-12T>A
- NM_001407927.1:c.-12T>A
- NM_001407930.1:c.-128T>A
- NM_001407933.1:c.-12T>A
- NM_001407934.1:c.-12T>A
- NM_001407935.1:c.-12T>A
- NM_001407937.1:c.130T>A
- NM_001407938.1:c.130T>A
- NM_001407939.1:c.130T>A
- NM_001407940.1:c.130T>A
- NM_001407941.1:c.130T>A
- NM_001407942.1:c.-128T>A
- NM_001407943.1:c.-12T>A
- NM_001407944.1:c.-12T>A
- NM_001407946.1:c.-59T>A
- NM_001407947.1:c.-59T>A
- NM_001407948.1:c.-59T>A
- NM_001407949.1:c.-59T>A
- NM_001407950.1:c.-59T>A
- NM_001407951.1:c.-59T>A
- NM_001407952.1:c.-59T>A
- NM_001407953.1:c.-59T>A
- NM_001407954.1:c.-59T>A
- NM_001407955.1:c.-59T>A
- NM_001407956.1:c.-59T>A
- NM_001407957.1:c.-59T>A
- NM_001407958.1:c.-59T>A
- NM_001407960.1:c.-174T>A
- NM_001407962.1:c.-174T>A
- NM_001407964.1:c.-12T>A
- NM_001407965.1:c.-290T>A
- NM_001407968.1:c.130T>A
- NM_001407969.1:c.130T>A
- NM_001407970.1:c.130T>A
- NM_001407971.1:c.130T>A
- NM_001407972.1:c.130T>A
- NM_001407973.1:c.130T>A
- NM_001407974.1:c.130T>A
- NM_001407975.1:c.130T>A
- NM_001407976.1:c.130T>A
- NM_001407977.1:c.130T>A
- NM_001407978.1:c.130T>A
- NM_001407979.1:c.130T>A
- NM_001407980.1:c.130T>A
- NM_001407981.1:c.130T>A
- NM_001407982.1:c.130T>A
- NM_001407983.1:c.130T>A
- NM_001407984.1:c.130T>A
- NM_001407985.1:c.130T>A
- NM_001407986.1:c.130T>A
- NM_001407990.1:c.130T>A
- NM_001407991.1:c.130T>A
- NM_001407992.1:c.130T>A
- NM_001407993.1:c.130T>A
- NM_001408392.1:c.130T>A
- NM_001408396.1:c.130T>A
- NM_001408397.1:c.130T>A
- NM_001408398.1:c.130T>A
- NM_001408399.1:c.130T>A
- NM_001408400.1:c.130T>A
- NM_001408401.1:c.130T>A
- NM_001408402.1:c.130T>A
- NM_001408403.1:c.130T>A
- NM_001408404.1:c.130T>A
- NM_001408406.1:c.130T>A
- NM_001408407.1:c.130T>A
- NM_001408408.1:c.130T>A
- NM_001408409.1:c.130T>A
- NM_001408410.1:c.-12T>A
- NM_001408411.1:c.130T>A
- NM_001408412.1:c.130T>A
- NM_001408413.1:c.130T>A
- NM_001408414.1:c.130T>A
- NM_001408415.1:c.130T>A
- NM_001408416.1:c.130T>A
- NM_001408418.1:c.130T>A
- NM_001408419.1:c.130T>A
- NM_001408420.1:c.130T>A
- NM_001408421.1:c.130T>A
- NM_001408422.1:c.130T>A
- NM_001408423.1:c.130T>A
- NM_001408424.1:c.130T>A
- NM_001408425.1:c.130T>A
- NM_001408426.1:c.130T>A
- NM_001408427.1:c.130T>A
- NM_001408428.1:c.130T>A
- NM_001408429.1:c.130T>A
- NM_001408430.1:c.130T>A
- NM_001408431.1:c.130T>A
- NM_001408432.1:c.130T>A
- NM_001408433.1:c.130T>A
- NM_001408434.1:c.130T>A
- NM_001408435.1:c.130T>A
- NM_001408436.1:c.130T>A
- NM_001408437.1:c.130T>A
- NM_001408438.1:c.130T>A
- NM_001408439.1:c.130T>A
- NM_001408440.1:c.130T>A
- NM_001408441.1:c.130T>A
- NM_001408442.1:c.130T>A
- NM_001408443.1:c.130T>A
- NM_001408444.1:c.130T>A
- NM_001408445.1:c.130T>A
- NM_001408446.1:c.130T>A
- NM_001408447.1:c.130T>A
- NM_001408448.1:c.130T>A
- NM_001408450.1:c.130T>A
- NM_001408452.1:c.-12T>A
- NM_001408453.1:c.-12T>A
- NM_001408455.1:c.-128T>A
- NM_001408456.1:c.-128T>A
- NM_001408458.1:c.-12T>A
- NM_001408462.1:c.-12T>A
- NM_001408463.1:c.-12T>A
- NM_001408465.1:c.-132T>A
- NM_001408466.1:c.-12T>A
- NM_001408468.1:c.-128T>A
- NM_001408469.1:c.-12T>A
- NM_001408470.1:c.-12T>A
- NM_001408472.1:c.130T>A
- NM_001408473.1:c.130T>A
- NM_001408474.1:c.130T>A
- NM_001408475.1:c.130T>A
- NM_001408476.1:c.130T>A
- NM_001408478.1:c.-59T>A
- NM_001408479.1:c.-59T>A
- NM_001408480.1:c.-59T>A
- NM_001408481.1:c.-59T>A
- NM_001408482.1:c.-59T>A
- NM_001408483.1:c.-59T>A
- NM_001408484.1:c.-59T>A
- NM_001408485.1:c.-59T>A
- NM_001408489.1:c.-59T>A
- NM_001408490.1:c.-59T>A
- NM_001408491.1:c.-59T>A
- NM_001408492.1:c.-175T>A
- NM_001408493.1:c.-59T>A
- NM_001408494.1:c.130T>A
- NM_001408495.1:c.130T>A
- NM_001408497.1:c.-12T>A
- NM_001408499.1:c.-12T>A
- NM_001408500.1:c.-12T>A
- NM_001408501.1:c.-128T>A
- NM_001408502.1:c.-59T>A
- NM_001408503.1:c.-12T>A
- NM_001408504.1:c.-12T>A
- NM_001408505.1:c.-12T>A
- NM_001408506.1:c.-59T>A
- NM_001408507.1:c.-59T>A
- NM_001408508.1:c.-59T>A
- NM_001408509.1:c.-59T>A
- NM_001408510.1:c.-174T>A
- NM_001408512.1:c.-174T>A
- NM_001408513.1:c.-59T>A
- NM_001408514.1:c.-59T>A
- NM_007294.4:c.130T>AMANE SELECT
- NM_007297.4:c.-8+8287T>A
- NM_007298.4:c.130T>A
- NM_007299.4:c.130T>A
- NM_007300.4:c.130T>A
- NM_007304.2:c.130T>A
- NP_001394510.1:p.Cys44Ser
- NP_001394511.1:p.Cys44Ser
- NP_001394512.1:p.Cys44Ser
- NP_001394514.1:p.Cys44Ser
- NP_001394516.1:p.Cys44Ser
- NP_001394519.1:p.Cys44Ser
- NP_001394520.1:p.Cys44Ser
- NP_001394522.1:p.Cys44Ser
- NP_001394523.1:p.Cys44Ser
- NP_001394525.1:p.Cys44Ser
- NP_001394526.1:p.Cys44Ser
- NP_001394527.1:p.Cys44Ser
- NP_001394531.1:p.Cys44Ser
- NP_001394532.1:p.Cys44Ser
- NP_001394534.1:p.Cys44Ser
- NP_001394539.1:p.Cys44Ser
- NP_001394540.1:p.Cys44Ser
- NP_001394541.1:p.Cys44Ser
- NP_001394542.1:p.Cys44Ser
- NP_001394543.1:p.Cys44Ser
- NP_001394544.1:p.Cys44Ser
- NP_001394545.1:p.Cys44Ser
- NP_001394546.1:p.Cys44Ser
- NP_001394547.1:p.Cys44Ser
- NP_001394548.1:p.Cys44Ser
- NP_001394549.1:p.Cys44Ser
- NP_001394550.1:p.Cys44Ser
- NP_001394551.1:p.Cys44Ser
- NP_001394552.1:p.Cys44Ser
- NP_001394553.1:p.Cys44Ser
- NP_001394554.1:p.Cys44Ser
- NP_001394555.1:p.Cys44Ser
- NP_001394556.1:p.Cys44Ser
- NP_001394557.1:p.Cys44Ser
- NP_001394558.1:p.Cys44Ser
- NP_001394559.1:p.Cys44Ser
- NP_001394560.1:p.Cys44Ser
- NP_001394561.1:p.Cys44Ser
- NP_001394562.1:p.Cys44Ser
- NP_001394563.1:p.Cys44Ser
- NP_001394564.1:p.Cys44Ser
- NP_001394565.1:p.Cys44Ser
- NP_001394566.1:p.Cys44Ser
- NP_001394567.1:p.Cys44Ser
- NP_001394568.1:p.Cys44Ser
- NP_001394569.1:p.Cys44Ser
- NP_001394570.1:p.Cys44Ser
- NP_001394571.1:p.Cys44Ser
- NP_001394573.1:p.Cys44Ser
- NP_001394574.1:p.Cys44Ser
- NP_001394575.1:p.Cys44Ser
- NP_001394576.1:p.Cys44Ser
- NP_001394577.1:p.Cys44Ser
- NP_001394578.1:p.Cys44Ser
- NP_001394581.1:p.Cys44Ser
- NP_001394582.1:p.Cys44Ser
- NP_001394583.1:p.Cys44Ser
- NP_001394584.1:p.Cys44Ser
- NP_001394585.1:p.Cys44Ser
- NP_001394586.1:p.Cys44Ser
- NP_001394587.1:p.Cys44Ser
- NP_001394588.1:p.Cys44Ser
- NP_001394589.1:p.Cys44Ser
- NP_001394590.1:p.Cys44Ser
- NP_001394591.1:p.Cys44Ser
- NP_001394592.1:p.Cys44Ser
- NP_001394593.1:p.Cys44Ser
- NP_001394594.1:p.Cys44Ser
- NP_001394595.1:p.Cys44Ser
- NP_001394596.1:p.Cys44Ser
- NP_001394597.1:p.Cys44Ser
- NP_001394598.1:p.Cys44Ser
- NP_001394599.1:p.Cys44Ser
- NP_001394600.1:p.Cys44Ser
- NP_001394601.1:p.Cys44Ser
- NP_001394602.1:p.Cys44Ser
- NP_001394603.1:p.Cys44Ser
- NP_001394604.1:p.Cys44Ser
- NP_001394605.1:p.Cys44Ser
- NP_001394606.1:p.Cys44Ser
- NP_001394607.1:p.Cys44Ser
- NP_001394608.1:p.Cys44Ser
- NP_001394609.1:p.Cys44Ser
- NP_001394610.1:p.Cys44Ser
- NP_001394611.1:p.Cys44Ser
- NP_001394612.1:p.Cys44Ser
- NP_001394613.1:p.Cys44Ser
- NP_001394614.1:p.Cys44Ser
- NP_001394615.1:p.Cys44Ser
- NP_001394616.1:p.Cys44Ser
- NP_001394617.1:p.Cys44Ser
- NP_001394618.1:p.Cys44Ser
- NP_001394619.1:p.Cys44Ser
- NP_001394620.1:p.Cys44Ser
- NP_001394783.1:p.Cys44Ser
- NP_001394787.1:p.Cys44Ser
- NP_001394788.1:p.Cys44Ser
- NP_001394789.1:p.Cys44Ser
- NP_001394790.1:p.Cys44Ser
- NP_001394791.1:p.Cys44Ser
- NP_001394792.1:p.Cys44Ser
- NP_001394803.1:p.Cys44Ser
- NP_001394804.1:p.Cys44Ser
- NP_001394848.1:p.Cys44Ser
- NP_001394866.1:p.Cys44Ser
- NP_001394867.1:p.Cys44Ser
- NP_001394868.1:p.Cys44Ser
- NP_001394869.1:p.Cys44Ser
- NP_001394870.1:p.Cys44Ser
- NP_001394897.1:p.Cys44Ser
- NP_001394898.1:p.Cys44Ser
- NP_001394899.1:p.Cys44Ser
- NP_001394900.1:p.Cys44Ser
- NP_001394901.1:p.Cys44Ser
- NP_001394902.1:p.Cys44Ser
- NP_001394903.1:p.Cys44Ser
- NP_001394904.1:p.Cys44Ser
- NP_001394905.1:p.Cys44Ser
- NP_001394906.1:p.Cys44Ser
- NP_001394907.1:p.Cys44Ser
- NP_001394908.1:p.Cys44Ser
- NP_001394909.1:p.Cys44Ser
- NP_001394910.1:p.Cys44Ser
- NP_001394911.1:p.Cys44Ser
- NP_001394912.1:p.Cys44Ser
- NP_001394913.1:p.Cys44Ser
- NP_001394914.1:p.Cys44Ser
- NP_001394915.1:p.Cys44Ser
- NP_001394919.1:p.Cys44Ser
- NP_001394920.1:p.Cys44Ser
- NP_001394921.1:p.Cys44Ser
- NP_001394922.1:p.Cys44Ser
- NP_001395321.1:p.Cys44Ser
- NP_001395325.1:p.Cys44Ser
- NP_001395326.1:p.Cys44Ser
- NP_001395327.1:p.Cys44Ser
- NP_001395328.1:p.Cys44Ser
- NP_001395329.1:p.Cys44Ser
- NP_001395330.1:p.Cys44Ser
- NP_001395331.1:p.Cys44Ser
- NP_001395332.1:p.Cys44Ser
- NP_001395333.1:p.Cys44Ser
- NP_001395335.1:p.Cys44Ser
- NP_001395336.1:p.Cys44Ser
- NP_001395337.1:p.Cys44Ser
- NP_001395338.1:p.Cys44Ser
- NP_001395340.1:p.Cys44Ser
- NP_001395341.1:p.Cys44Ser
- NP_001395342.1:p.Cys44Ser
- NP_001395343.1:p.Cys44Ser
- NP_001395344.1:p.Cys44Ser
- NP_001395345.1:p.Cys44Ser
- NP_001395347.1:p.Cys44Ser
- NP_001395348.1:p.Cys44Ser
- NP_001395349.1:p.Cys44Ser
- NP_001395350.1:p.Cys44Ser
- NP_001395351.1:p.Cys44Ser
- NP_001395352.1:p.Cys44Ser
- NP_001395353.1:p.Cys44Ser
- NP_001395354.1:p.Cys44Ser
- NP_001395355.1:p.Cys44Ser
- NP_001395356.1:p.Cys44Ser
- NP_001395357.1:p.Cys44Ser
- NP_001395358.1:p.Cys44Ser
- NP_001395359.1:p.Cys44Ser
- NP_001395360.1:p.Cys44Ser
- NP_001395361.1:p.Cys44Ser
- NP_001395362.1:p.Cys44Ser
- NP_001395363.1:p.Cys44Ser
- NP_001395364.1:p.Cys44Ser
- NP_001395365.1:p.Cys44Ser
- NP_001395366.1:p.Cys44Ser
- NP_001395367.1:p.Cys44Ser
- NP_001395368.1:p.Cys44Ser
- NP_001395369.1:p.Cys44Ser
- NP_001395370.1:p.Cys44Ser
- NP_001395371.1:p.Cys44Ser
- NP_001395372.1:p.Cys44Ser
- NP_001395373.1:p.Cys44Ser
- NP_001395374.1:p.Cys44Ser
- NP_001395375.1:p.Cys44Ser
- NP_001395376.1:p.Cys44Ser
- NP_001395377.1:p.Cys44Ser
- NP_001395379.1:p.Cys44Ser
- NP_001395401.1:p.Cys44Ser
- NP_001395402.1:p.Cys44Ser
- NP_001395403.1:p.Cys44Ser
- NP_001395404.1:p.Cys44Ser
- NP_001395405.1:p.Cys44Ser
- NP_001395423.1:p.Cys44Ser
- NP_001395424.1:p.Cys44Ser
- NP_009225.1:p.Cys44Ser
- NP_009225.1:p.Cys44Ser
- NP_009229.2:p.Cys44Ser
- NP_009229.2:p.Cys44Ser
- NP_009230.2:p.Cys44Ser
- NP_009231.2:p.Cys44Ser
- NP_009235.2:p.Cys44Ser
- LRG_292t1:c.130T>A
- LRG_292:g.102254T>A
- LRG_292p1:p.Cys44Ser
- NC_000017.10:g.41267747A>T
- NM_007294.3:c.130T>A
- NM_007298.3:c.130T>A
- NR_027676.2:n.332T>A
- U14680.1:n.249T>A
This HGVS expression did not pass validation- Protein change:
- C44S
- Links:
- BRCA1-HCI: BRCA1_00115; dbSNP: rs80357327
- NCBI 1000 Genomes Browser:
- rs80357327
- Molecular consequence:
- NM_007297.4:c.-8+8287T>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.130T>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.332T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.130T>A, a MISSENSE variant, produced a function score of -2.38, corresponding to a functional classification of LOSS_OF_FUNCTION. 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:
- 24
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000144397 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (Dec 23, 2003) | germline | clinical testing | |
SCV000244298 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Pathogenic (Aug 10, 2015) | germline | curation | PubMed (1) ENIGMA BRCA1/2 Classification Criteria (2015), |
SCV000296457 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Pathogenic (Apr 23, 2016) | germline | clinical testing | |
SCV000325009 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV000564369 | Department of Medical Genetics, Oslo University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jul 22, 2015) | germline | clinical testing | |
SCV000677631 | Counsyl | criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) | Pathogenic (Dec 13, 2016) | unknown | clinical testing | |
SCV001242867 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV002589062 | BRCAlab, Lund University | no assertion criteria provided | Pathogenic (Aug 26, 2022) | germline | clinical testing | |
SCV005045909 | Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (May 27, 2024) | germline | clinical testing | |
SCV005058219 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Mar 24, 2024) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 9 | 1 | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | 23 | not provided | not provided | not provided | clinical testing, curation |
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Whiley PJ, Parsons MT, Leary J, Tucker K, Warwick L, Dopita B, Thorne H, Lakhani SR, Goldgar DE, Brown MA, Spurdle AB.
PLoS One. 2014;9(1):e86836. doi: 10.1371/journal.pone.0086836.
- PMID:
- 24489791
- PMCID:
- PMC3904950
Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.
Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.
- PMID:
- 20104584
- PMCID:
- PMC2928257
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144397.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | 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 | 1 | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244298.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 1
# | 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 |
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296457.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (8) |
# | 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 |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325009.4
# | 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 | unknown | not provided | not provided | not provided | not provided | not provided | 23 | not provided |
From Department of Medical Genetics, Oslo University Hospital, SCV000564369.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 8 | not provided | not provided | clinical testing | PubMed (1) |
# | 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 | 8 | not provided | not provided | not provided |
From Counsyl, SCV000677631.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (10) |
# | 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, SCV001242867.1
# | 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 BRCAlab, Lund University, SCV002589062.1
# | 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 | yes | not provided | not provided | not provided | not provided | not provided | 1 | not provided |
From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV005045909.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
PP3; PS3; PP1_Strong; PM2_Supporting
# | 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 | not provided | not provided | not provided | not provided |
From Baylor Genetics, SCV005058219.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 |
Last Updated: Sep 8, 2024