NM_007294.4(BRCA1):c.112_113del (p.Lys38fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Sep 8, 2016
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:: RCV000111790.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)]

NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.112_113del (p.Lys38fs)

Other names:

231delAA

HGVS:

NC_000017.10:g.41267764_41267765del
NC_000017.11:g.43115748_43115749del
NG_005905.2:g.102236_102237del
NM_001407571.1:c.-78_-77delAA
NM_001407581.1:c.111_112delAA
NM_001407582.1:c.111_112delAA
NM_001407583.1:c.111_112delAA
NM_001407585.1:c.111_112delAA
NM_001407587.1:c.111_112delAA
NM_001407590.1:c.111_112delAA
NM_001407591.1:c.111_112delAA
NM_001407593.1:c.111_112delAA
NM_001407594.1:c.111_112delAA
NM_001407596.1:c.111_112delAA
NM_001407597.1:c.111_112delAA
NM_001407598.1:c.111_112delAA
NM_001407602.1:c.111_112delAA
NM_001407603.1:c.111_112delAA
NM_001407605.1:c.111_112delAA
NM_001407610.1:c.111_112delAA
NM_001407611.1:c.111_112delAA
NM_001407612.1:c.111_112delAA
NM_001407613.1:c.111_112delAA
NM_001407614.1:c.111_112delAA
NM_001407615.1:c.111_112delAA
NM_001407616.1:c.111_112delAA
NM_001407617.1:c.111_112delAA
NM_001407618.1:c.111_112delAA
NM_001407619.1:c.111_112delAA
NM_001407620.1:c.111_112delAA
NM_001407621.1:c.111_112delAA
NM_001407622.1:c.111_112delAA
NM_001407623.1:c.111_112delAA
NM_001407624.1:c.111_112delAA
NM_001407625.1:c.111_112delAA
NM_001407626.1:c.111_112delAA
NM_001407627.1:c.111_112delAA
NM_001407628.1:c.111_112delAA
NM_001407629.1:c.111_112delAA
NM_001407630.1:c.111_112delAA
NM_001407631.1:c.111_112delAA
NM_001407632.1:c.111_112delAA
NM_001407633.1:c.111_112delAA
NM_001407634.1:c.111_112delAA
NM_001407635.1:c.111_112delAA
NM_001407636.1:c.111_112delAA
NM_001407637.1:c.111_112delAA
NM_001407638.1:c.111_112delAA
NM_001407639.1:c.111_112delAA
NM_001407640.1:c.111_112delAA
NM_001407641.1:c.111_112delAA
NM_001407642.1:c.111_112delAA
NM_001407644.1:c.111_112delAA
NM_001407645.1:c.111_112delAA
NM_001407646.1:c.111_112delAA
NM_001407647.1:c.111_112delAA
NM_001407648.1:c.111_112delAA
NM_001407649.1:c.111_112delAA
NM_001407652.1:c.111_112delAA
NM_001407653.1:c.111_112delAA
NM_001407654.1:c.111_112delAA
NM_001407655.1:c.111_112delAA
NM_001407656.1:c.111_112delAA
NM_001407657.1:c.111_112delAA
NM_001407658.1:c.111_112delAA
NM_001407659.1:c.111_112delAA
NM_001407660.1:c.111_112delAA
NM_001407661.1:c.111_112delAA
NM_001407662.1:c.111_112delAA
NM_001407663.1:c.111_112delAA
NM_001407664.1:c.111_112delAA
NM_001407665.1:c.111_112delAA
NM_001407666.1:c.111_112delAA
NM_001407667.1:c.111_112delAA
NM_001407668.1:c.111_112delAA
NM_001407669.1:c.111_112delAA
NM_001407670.1:c.111_112delAA
NM_001407671.1:c.111_112delAA
NM_001407672.1:c.111_112delAA
NM_001407673.1:c.111_112delAA
NM_001407674.1:c.111_112delAA
NM_001407675.1:c.111_112delAA
NM_001407676.1:c.111_112delAA
NM_001407677.1:c.111_112delAA
NM_001407678.1:c.111_112delAA
NM_001407679.1:c.111_112delAA
NM_001407680.1:c.111_112delAA
NM_001407681.1:c.111_112delAA
NM_001407682.1:c.111_112delAA
NM_001407683.1:c.111_112delAA
NM_001407684.1:c.111_112delAA
NM_001407685.1:c.111_112delAA
NM_001407686.1:c.111_112delAA
NM_001407687.1:c.111_112delAA
NM_001407688.1:c.111_112delAA
NM_001407689.1:c.111_112delAA
NM_001407690.1:c.111_112delAA
NM_001407691.1:c.111_112delAA
NM_001407694.1:c.-147_-146delAA
NM_001407695.1:c.-151_-150delAA
NM_001407696.1:c.-147_-146delAA
NM_001407697.1:c.-31_-30delAA
NM_001407724.1:c.-147_-146delAA
NM_001407725.1:c.-31_-30delAA
NM_001407727.1:c.-147_-146delAA
NM_001407728.1:c.-31_-30delAA
NM_001407729.1:c.-31_-30delAA
NM_001407730.1:c.-31_-30delAA
NM_001407731.1:c.-147_-146delAA
NM_001407733.1:c.-147_-146delAA
NM_001407734.1:c.-31_-30delAA
NM_001407735.1:c.-31_-30delAA
NM_001407737.1:c.-31_-30delAA
NM_001407739.1:c.-31_-30delAA
NM_001407740.1:c.-31_-30delAA
NM_001407741.1:c.-31_-30delAA
NM_001407743.1:c.-31_-30delAA
NM_001407745.1:c.-31_-30delAA
NM_001407746.1:c.-147_-146delAA
NM_001407748.1:c.-31_-30delAA
NM_001407749.1:c.-147_-146delAA
NM_001407752.1:c.-31_-30delAA
NM_001407838.1:c.-31_-30delAA
NM_001407839.1:c.-31_-30delAA
NM_001407841.1:c.-27_-26delAA
NM_001407842.1:c.-147_-146delAA
NM_001407843.1:c.-147_-146delAA
NM_001407844.1:c.-31_-30delAA
NM_001407846.1:c.-31_-30delAA
NM_001407847.1:c.-31_-30delAA
NM_001407848.1:c.-31_-30delAA
NM_001407850.1:c.-31_-30delAA
NM_001407851.1:c.-31_-30delAA
NM_001407853.1:c.-78_-77delAA
NM_001407854.1:c.111_112delAA
NM_001407858.1:c.111_112delAA
NM_001407859.1:c.111_112delAA
NM_001407860.1:c.111_112delAA
NM_001407861.1:c.111_112delAA
NM_001407862.1:c.111_112delAA
NM_001407863.1:c.111_112delAA
NM_001407874.1:c.111_112delAA
NM_001407875.1:c.111_112delAA
NM_001407879.1:c.-78_-77delAA
NM_001407882.1:c.-78_-77delAA
NM_001407884.1:c.-78_-77delAA
NM_001407885.1:c.-78_-77delAA
NM_001407886.1:c.-78_-77delAA
NM_001407887.1:c.-78_-77delAA
NM_001407889.1:c.-194_-193delAA
NM_001407894.1:c.-78_-77delAA
NM_001407895.1:c.-78_-77delAA
NM_001407896.1:c.-78_-77delAA
NM_001407897.1:c.-78_-77delAA
NM_001407899.1:c.-78_-77delAA
NM_001407900.1:c.-194_-193delAA
NM_001407904.1:c.-78_-77delAA
NM_001407906.1:c.-78_-77delAA
NM_001407907.1:c.-78_-77delAA
NM_001407908.1:c.-78_-77delAA
NM_001407909.1:c.-78_-77delAA
NM_001407910.1:c.-78_-77delAA
NM_001407915.1:c.-78_-77delAA
NM_001407916.1:c.-78_-77delAA
NM_001407917.1:c.-78_-77delAA
NM_001407918.1:c.-78_-77delAA
NM_001407919.1:c.111_112delAA
NM_001407920.1:c.-31_-30delAA
NM_001407921.1:c.-31_-30delAA
NM_001407922.1:c.-31_-30delAA
NM_001407923.1:c.-31_-30delAA
NM_001407926.1:c.-31_-30delAA
NM_001407927.1:c.-31_-30delAA
NM_001407930.1:c.-147_-146delAA
NM_001407933.1:c.-31_-30delAA
NM_001407934.1:c.-31_-30delAA
NM_001407935.1:c.-31_-30delAA
NM_001407937.1:c.111_112delAA
NM_001407938.1:c.111_112delAA
NM_001407939.1:c.111_112delAA
NM_001407940.1:c.111_112delAA
NM_001407941.1:c.111_112delAA
NM_001407942.1:c.-147_-146delAA
NM_001407943.1:c.-31_-30delAA
NM_001407944.1:c.-31_-30delAA
NM_001407946.1:c.-78_-77delAA
NM_001407947.1:c.-78_-77delAA
NM_001407948.1:c.-78_-77delAA
NM_001407949.1:c.-78_-77delAA
NM_001407950.1:c.-78_-77delAA
NM_001407951.1:c.-78_-77delAA
NM_001407952.1:c.-78_-77delAA
NM_001407953.1:c.-78_-77delAA
NM_001407954.1:c.-78_-77delAA
NM_001407955.1:c.-78_-77delAA
NM_001407956.1:c.-78_-77delAA
NM_001407957.1:c.-78_-77delAA
NM_001407958.1:c.-78_-77delAA
NM_001407960.1:c.-193_-192delAA
NM_001407962.1:c.-193_-192delAA
NM_001407964.1:c.-31_-30delAA
NM_001407965.1:c.-309_-308delAA
NM_001407968.1:c.111_112delAA
NM_001407969.1:c.111_112delAA
NM_001407970.1:c.111_112delAA
NM_001407971.1:c.111_112delAA
NM_001407972.1:c.111_112delAA
NM_001407973.1:c.111_112delAA
NM_001407974.1:c.111_112delAA
NM_001407975.1:c.111_112delAA
NM_001407976.1:c.111_112delAA
NM_001407977.1:c.111_112delAA
NM_001407978.1:c.111_112delAA
NM_001407979.1:c.111_112delAA
NM_001407980.1:c.111_112delAA
NM_001407981.1:c.111_112delAA
NM_001407982.1:c.111_112delAA
NM_001407983.1:c.111_112delAA
NM_001407984.1:c.111_112delAA
NM_001407985.1:c.111_112delAA
NM_001407986.1:c.111_112delAA
NM_001407990.1:c.111_112delAA
NM_001407991.1:c.111_112delAA
NM_001407992.1:c.111_112delAA
NM_001407993.1:c.111_112delAA
NM_001408392.1:c.111_112delAA
NM_001408396.1:c.111_112delAA
NM_001408397.1:c.111_112delAA
NM_001408398.1:c.111_112delAA
NM_001408399.1:c.111_112delAA
NM_001408400.1:c.111_112delAA
NM_001408401.1:c.111_112delAA
NM_001408402.1:c.111_112delAA
NM_001408403.1:c.111_112delAA
NM_001408404.1:c.111_112delAA
NM_001408406.1:c.111_112delAA
NM_001408407.1:c.111_112delAA
NM_001408408.1:c.111_112delAA
NM_001408409.1:c.111_112delAA
NM_001408410.1:c.-31_-30delAA
NM_001408411.1:c.111_112delAA
NM_001408412.1:c.111_112delAA
NM_001408413.1:c.111_112delAA
NM_001408414.1:c.111_112delAA
NM_001408415.1:c.111_112delAA
NM_001408416.1:c.111_112delAA
NM_001408418.1:c.111_112delAA
NM_001408419.1:c.111_112delAA
NM_001408420.1:c.111_112delAA
NM_001408421.1:c.111_112delAA
NM_001408422.1:c.111_112delAA
NM_001408423.1:c.111_112delAA
NM_001408424.1:c.111_112delAA
NM_001408425.1:c.111_112delAA
NM_001408426.1:c.111_112delAA
NM_001408427.1:c.111_112delAA
NM_001408428.1:c.111_112delAA
NM_001408429.1:c.111_112delAA
NM_001408430.1:c.111_112delAA
NM_001408431.1:c.111_112delAA
NM_001408432.1:c.111_112delAA
NM_001408433.1:c.111_112delAA
NM_001408434.1:c.111_112delAA
NM_001408435.1:c.111_112delAA
NM_001408436.1:c.111_112delAA
NM_001408437.1:c.111_112delAA
NM_001408438.1:c.111_112delAA
NM_001408439.1:c.111_112delAA
NM_001408440.1:c.111_112delAA
NM_001408441.1:c.111_112delAA
NM_001408442.1:c.111_112delAA
NM_001408443.1:c.111_112delAA
NM_001408444.1:c.111_112delAA
NM_001408445.1:c.111_112delAA
NM_001408446.1:c.111_112delAA
NM_001408447.1:c.111_112delAA
NM_001408448.1:c.111_112delAA
NM_001408450.1:c.111_112delAA
NM_001408452.1:c.-31_-30delAA
NM_001408453.1:c.-31_-30delAA
NM_001408455.1:c.-147_-146delAA
NM_001408456.1:c.-147_-146delAA
NM_001408458.1:c.-31_-30delAA
NM_001408462.1:c.-31_-30delAA
NM_001408463.1:c.-31_-30delAA
NM_001408465.1:c.-151_-150delAA
NM_001408466.1:c.-31_-30delAA
NM_001408468.1:c.-147_-146delAA
NM_001408469.1:c.-31_-30delAA
NM_001408470.1:c.-31_-30delAA
NM_001408472.1:c.111_112delAA
NM_001408473.1:c.111_112delAA
NM_001408474.1:c.111_112delAA
NM_001408475.1:c.111_112delAA
NM_001408476.1:c.111_112delAA
NM_001408478.1:c.-78_-77delAA
NM_001408479.1:c.-78_-77delAA
NM_001408480.1:c.-78_-77delAA
NM_001408481.1:c.-78_-77delAA
NM_001408482.1:c.-78_-77delAA
NM_001408483.1:c.-78_-77delAA
NM_001408484.1:c.-78_-77delAA
NM_001408485.1:c.-78_-77delAA
NM_001408489.1:c.-78_-77delAA
NM_001408490.1:c.-78_-77delAA
NM_001408491.1:c.-78_-77delAA
NM_001408492.1:c.-194_-193delAA
NM_001408493.1:c.-78_-77delAA
NM_001408494.1:c.111_112delAA
NM_001408495.1:c.111_112delAA
NM_001408497.1:c.-31_-30delAA
NM_001408499.1:c.-31_-30delAA
NM_001408500.1:c.-31_-30delAA
NM_001408501.1:c.-147_-146delAA
NM_001408502.1:c.-78_-77delAA
NM_001408503.1:c.-31_-30delAA
NM_001408504.1:c.-31_-30delAA
NM_001408505.1:c.-31_-30delAA
NM_001408506.1:c.-78_-77delAA
NM_001408507.1:c.-78_-77delAA
NM_001408508.1:c.-78_-77delAA
NM_001408509.1:c.-78_-77delAA
NM_001408510.1:c.-193_-192delAA
NM_001408512.1:c.-193_-192delAA
NM_001408513.1:c.-78_-77delAA
NM_001408514.1:c.-78_-77delAA
NM_007294.4:c.112_113delMANE SELECT
NM_007297.4:c.-8+8269_-8+8270del
NM_007298.4:c.111_112delAA
NM_007299.4:c.112_113del
NM_007300.4:c.112_113del
NM_007304.2:c.111_112delAA
NP_001394510.1:p.Lys38Valfs
NP_001394511.1:p.Lys38Valfs
NP_001394512.1:p.Lys38Valfs
NP_001394514.1:p.Lys38Valfs
NP_001394516.1:p.Lys38Valfs
NP_001394519.1:p.Lys38Valfs
NP_001394520.1:p.Lys38Valfs
NP_001394522.1:p.Lys38Valfs
NP_001394523.1:p.Lys38Valfs
NP_001394525.1:p.Lys38Valfs
NP_001394526.1:p.Lys38Valfs
NP_001394527.1:p.Lys38Valfs
NP_001394531.1:p.Lys38Valfs
NP_001394532.1:p.Lys38Valfs
NP_001394534.1:p.Lys38Valfs
NP_001394539.1:p.Lys38Valfs
NP_001394540.1:p.Lys38Valfs
NP_001394541.1:p.Lys38Valfs
NP_001394542.1:p.Lys38Valfs
NP_001394543.1:p.Lys38Valfs
NP_001394544.1:p.Lys38Valfs
NP_001394545.1:p.Lys38Valfs
NP_001394546.1:p.Lys38Valfs
NP_001394547.1:p.Lys38Valfs
NP_001394548.1:p.Lys38Valfs
NP_001394549.1:p.Lys38Valfs
NP_001394550.1:p.Lys38Valfs
NP_001394551.1:p.Lys38Valfs
NP_001394552.1:p.Lys38Valfs
NP_001394553.1:p.Lys38Valfs
NP_001394554.1:p.Lys38Valfs
NP_001394555.1:p.Lys38Valfs
NP_001394556.1:p.Lys38Valfs
NP_001394557.1:p.Lys38Valfs
NP_001394558.1:p.Lys38Valfs
NP_001394559.1:p.Lys38Valfs
NP_001394560.1:p.Lys38Valfs
NP_001394561.1:p.Lys38Valfs
NP_001394562.1:p.Lys38Valfs
NP_001394563.1:p.Lys38Valfs
NP_001394564.1:p.Lys38Valfs
NP_001394565.1:p.Lys38Valfs
NP_001394566.1:p.Lys38Valfs
NP_001394567.1:p.Lys38Valfs
NP_001394568.1:p.Lys38Valfs
NP_001394569.1:p.Lys38Valfs
NP_001394570.1:p.Lys38Valfs
NP_001394571.1:p.Lys38Valfs
NP_001394573.1:p.Lys38Valfs
NP_001394574.1:p.Lys38Valfs
NP_001394575.1:p.Lys38Valfs
NP_001394576.1:p.Lys38Valfs
NP_001394577.1:p.Lys38Valfs
NP_001394578.1:p.Lys38Valfs
NP_001394581.1:p.Lys38Valfs
NP_001394582.1:p.Lys38Valfs
NP_001394583.1:p.Lys38Valfs
NP_001394584.1:p.Lys38Valfs
NP_001394585.1:p.Lys38Valfs
NP_001394586.1:p.Lys38Valfs
NP_001394587.1:p.Lys38Valfs
NP_001394588.1:p.Lys38Valfs
NP_001394589.1:p.Lys38Valfs
NP_001394590.1:p.Lys38Valfs
NP_001394591.1:p.Lys38Valfs
NP_001394592.1:p.Lys38Valfs
NP_001394593.1:p.Lys38Valfs
NP_001394594.1:p.Lys38Valfs
NP_001394595.1:p.Lys38Valfs
NP_001394596.1:p.Lys38Valfs
NP_001394597.1:p.Lys38Valfs
NP_001394598.1:p.Lys38Valfs
NP_001394599.1:p.Lys38Valfs
NP_001394600.1:p.Lys38Valfs
NP_001394601.1:p.Lys38Valfs
NP_001394602.1:p.Lys38Valfs
NP_001394603.1:p.Lys38Valfs
NP_001394604.1:p.Lys38Valfs
NP_001394605.1:p.Lys38Valfs
NP_001394606.1:p.Lys38Valfs
NP_001394607.1:p.Lys38Valfs
NP_001394608.1:p.Lys38Valfs
NP_001394609.1:p.Lys38Valfs
NP_001394610.1:p.Lys38Valfs
NP_001394611.1:p.Lys38Valfs
NP_001394612.1:p.Lys38Valfs
NP_001394613.1:p.Lys38Valfs
NP_001394614.1:p.Lys38Valfs
NP_001394615.1:p.Lys38Valfs
NP_001394616.1:p.Lys38Valfs
NP_001394617.1:p.Lys38Valfs
NP_001394618.1:p.Lys38Valfs
NP_001394619.1:p.Lys38Valfs
NP_001394620.1:p.Lys38Valfs
NP_001394783.1:p.Lys38Valfs
NP_001394787.1:p.Lys38Valfs
NP_001394788.1:p.Lys38Valfs
NP_001394789.1:p.Lys38Valfs
NP_001394790.1:p.Lys38Valfs
NP_001394791.1:p.Lys38Valfs
NP_001394792.1:p.Lys38Valfs
NP_001394803.1:p.Lys38Valfs
NP_001394804.1:p.Lys38Valfs
NP_001394848.1:p.Lys38Valfs
NP_001394866.1:p.Lys38Valfs
NP_001394867.1:p.Lys38Valfs
NP_001394868.1:p.Lys38Valfs
NP_001394869.1:p.Lys38Valfs
NP_001394870.1:p.Lys38Valfs
NP_001394897.1:p.Lys38Valfs
NP_001394898.1:p.Lys38Valfs
NP_001394899.1:p.Lys38Valfs
NP_001394900.1:p.Lys38Valfs
NP_001394901.1:p.Lys38Valfs
NP_001394902.1:p.Lys38Valfs
NP_001394903.1:p.Lys38Valfs
NP_001394904.1:p.Lys38Valfs
NP_001394905.1:p.Lys38Valfs
NP_001394906.1:p.Lys38Valfs
NP_001394907.1:p.Lys38Valfs
NP_001394908.1:p.Lys38Valfs
NP_001394909.1:p.Lys38Valfs
NP_001394910.1:p.Lys38Valfs
NP_001394911.1:p.Lys38Valfs
NP_001394912.1:p.Lys38Valfs
NP_001394913.1:p.Lys38Valfs
NP_001394914.1:p.Lys38Valfs
NP_001394915.1:p.Lys38Valfs
NP_001394919.1:p.Lys38Valfs
NP_001394920.1:p.Lys38Valfs
NP_001394921.1:p.Lys38Valfs
NP_001394922.1:p.Lys38Valfs
NP_001395321.1:p.Lys38Valfs
NP_001395325.1:p.Lys38Valfs
NP_001395326.1:p.Lys38Valfs
NP_001395327.1:p.Lys38Valfs
NP_001395328.1:p.Lys38Valfs
NP_001395329.1:p.Lys38Valfs
NP_001395330.1:p.Lys38Valfs
NP_001395331.1:p.Lys38Valfs
NP_001395332.1:p.Lys38Valfs
NP_001395333.1:p.Lys38Valfs
NP_001395335.1:p.Lys38Valfs
NP_001395336.1:p.Lys38Valfs
NP_001395337.1:p.Lys38Valfs
NP_001395338.1:p.Lys38Valfs
NP_001395340.1:p.Lys38Valfs
NP_001395341.1:p.Lys38Valfs
NP_001395342.1:p.Lys38Valfs
NP_001395343.1:p.Lys38Valfs
NP_001395344.1:p.Lys38Valfs
NP_001395345.1:p.Lys38Valfs
NP_001395347.1:p.Lys38Valfs
NP_001395348.1:p.Lys38Valfs
NP_001395349.1:p.Lys38Valfs
NP_001395350.1:p.Lys38Valfs
NP_001395351.1:p.Lys38Valfs
NP_001395352.1:p.Lys38Valfs
NP_001395353.1:p.Lys38Valfs
NP_001395354.1:p.Lys38Valfs
NP_001395355.1:p.Lys38Valfs
NP_001395356.1:p.Lys38Valfs
NP_001395357.1:p.Lys38Valfs
NP_001395358.1:p.Lys38Valfs
NP_001395359.1:p.Lys38Valfs
NP_001395360.1:p.Lys38Valfs
NP_001395361.1:p.Lys38Valfs
NP_001395362.1:p.Lys38Valfs
NP_001395363.1:p.Lys38Valfs
NP_001395364.1:p.Lys38Valfs
NP_001395365.1:p.Lys38Valfs
NP_001395366.1:p.Lys38Valfs
NP_001395367.1:p.Lys38Valfs
NP_001395368.1:p.Lys38Valfs
NP_001395369.1:p.Lys38Valfs
NP_001395370.1:p.Lys38Valfs
NP_001395371.1:p.Lys38Valfs
NP_001395372.1:p.Lys38Valfs
NP_001395373.1:p.Lys38Valfs
NP_001395374.1:p.Lys38Valfs
NP_001395375.1:p.Lys38Valfs
NP_001395376.1:p.Lys38Valfs
NP_001395377.1:p.Lys38Valfs
NP_001395379.1:p.Lys38Valfs
NP_001395401.1:p.Lys38Valfs
NP_001395402.1:p.Lys38Valfs
NP_001395403.1:p.Lys38Valfs
NP_001395404.1:p.Lys38Valfs
NP_001395405.1:p.Lys38Valfs
NP_001395423.1:p.Lys38Valfs
NP_001395424.1:p.Lys38Valfs
NP_009225.1:p.Lys38Valfs
NP_009225.1:p.Lys38fs
NP_009229.2:p.Lys38Valfs
NP_009229.2:p.Lys38fs
NP_009230.2:p.Lys38fs
NP_009231.2:p.Lys38fs
NP_009235.2:p.Lys38Valfs
LRG_292t1:c.111_112del
LRG_292:g.102236_102237del
LRG_292p1:p.Lys38Valfs
NC_000017.10:g.41267764_41267765del
NC_000017.10:g.41267764_41267765delTT
NC_000017.10:g.41267765_41267766del
NM_007294.3:c.111_112delAA
NM_007294.3:c.112_113delAA
NM_007298.3:c.112_113del
NR_027676.2:n.314_315del
U14680.1:n.231_232delAA

Protein change:

K38fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 231&base_change=del AA; dbSNP: rs80357949

NCBI 1000 Genomes Browser:

rs80357949

Molecular consequence:

NM_001407581.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.112_113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.112_113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.112_113del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.111_112delAA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.-8+8269_-8+8270del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.314_315del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; 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
SCV000144333	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000299405	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000324959	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,
SCV004216862	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 22, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	4	not provided	not provided	not provided	clinical testing, curation
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144333.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	Western European	2	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		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299405.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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, SCV000324959.4

#	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	4	not provided

From Baylor Genetics, SCV004216862.1

#	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: Oct 8, 2024

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