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 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: 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

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)

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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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) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000296457	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Apr 23, 2016)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 19543972, 21990134, 24489791, 21520273, 20437199, 20104584, 26467025, 26295337
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, Citation Link,
SCV000564369	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 22, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000677631	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Dec 13, 2016)	unknown	clinical testing	PubMed (10) [See all records that cite these PMIDs] 21990134, 18465347, 11573085, 20437199, 25348012, 21990165, 25823446, 19543972, 26833046, 21520273 Citation Link,
SCV001242867	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
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	PubMed (1) [See all records that cite this PMID]
SCV005058219	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 24, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

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

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

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.

PubMed [citation]

PMID:: 24489791
PMCID:: PMC3904950

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

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.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

See all PubMed Citations (16)

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

Relating variation to medicine