NM_007294.4(BRCA1):c.83_84del (p.Leu28fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001390402.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)]

NM_007294.4(BRCA1):c.83_84del (p.Leu28fs)

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.83_84del (p.Leu28fs)

Other names:

202delTG

HGVS:

NC_000017.11:g.43115776_43115777del
NG_005905.2:g.102207_102208del
NM_001407571.1:c.-106_-105delTG
NM_001407581.1:c.83_84delTG
NM_001407582.1:c.83_84delTG
NM_001407583.1:c.83_84delTG
NM_001407585.1:c.83_84delTG
NM_001407587.1:c.83_84delTG
NM_001407590.1:c.83_84delTG
NM_001407591.1:c.83_84delTG
NM_001407593.1:c.83_84delTG
NM_001407594.1:c.83_84delTG
NM_001407596.1:c.83_84delTG
NM_001407597.1:c.83_84delTG
NM_001407598.1:c.83_84delTG
NM_001407602.1:c.83_84delTG
NM_001407603.1:c.83_84delTG
NM_001407605.1:c.83_84delTG
NM_001407610.1:c.83_84delTG
NM_001407611.1:c.83_84delTG
NM_001407612.1:c.83_84delTG
NM_001407613.1:c.83_84delTG
NM_001407614.1:c.83_84delTG
NM_001407615.1:c.83_84delTG
NM_001407616.1:c.83_84delTG
NM_001407617.1:c.83_84delTG
NM_001407618.1:c.83_84delTG
NM_001407619.1:c.83_84delTG
NM_001407620.1:c.83_84delTG
NM_001407621.1:c.83_84delTG
NM_001407622.1:c.83_84delTG
NM_001407623.1:c.83_84delTG
NM_001407624.1:c.83_84delTG
NM_001407625.1:c.83_84delTG
NM_001407626.1:c.83_84delTG
NM_001407627.1:c.83_84delTG
NM_001407628.1:c.83_84delTG
NM_001407629.1:c.83_84delTG
NM_001407630.1:c.83_84delTG
NM_001407631.1:c.83_84delTG
NM_001407632.1:c.83_84delTG
NM_001407633.1:c.83_84delTG
NM_001407634.1:c.83_84delTG
NM_001407635.1:c.83_84delTG
NM_001407636.1:c.83_84delTG
NM_001407637.1:c.83_84delTG
NM_001407638.1:c.83_84delTG
NM_001407639.1:c.83_84delTG
NM_001407640.1:c.83_84delTG
NM_001407641.1:c.83_84delTG
NM_001407642.1:c.83_84delTG
NM_001407644.1:c.83_84delTG
NM_001407645.1:c.83_84delTG
NM_001407646.1:c.83_84delTG
NM_001407647.1:c.83_84delTG
NM_001407648.1:c.83_84delTG
NM_001407649.1:c.83_84delTG
NM_001407652.1:c.83_84delTG
NM_001407653.1:c.83_84delTG
NM_001407654.1:c.83_84delTG
NM_001407655.1:c.83_84delTG
NM_001407656.1:c.83_84delTG
NM_001407657.1:c.83_84delTG
NM_001407658.1:c.83_84delTG
NM_001407659.1:c.83_84delTG
NM_001407660.1:c.83_84delTG
NM_001407661.1:c.83_84delTG
NM_001407662.1:c.83_84delTG
NM_001407663.1:c.83_84delTG
NM_001407664.1:c.83_84delTG
NM_001407665.1:c.83_84delTG
NM_001407666.1:c.83_84delTG
NM_001407667.1:c.83_84delTG
NM_001407668.1:c.83_84delTG
NM_001407669.1:c.83_84delTG
NM_001407670.1:c.83_84delTG
NM_001407671.1:c.83_84delTG
NM_001407672.1:c.83_84delTG
NM_001407673.1:c.83_84delTG
NM_001407674.1:c.83_84delTG
NM_001407675.1:c.83_84delTG
NM_001407676.1:c.83_84delTG
NM_001407677.1:c.83_84delTG
NM_001407678.1:c.83_84delTG
NM_001407679.1:c.83_84delTG
NM_001407680.1:c.83_84delTG
NM_001407681.1:c.83_84delTG
NM_001407682.1:c.83_84delTG
NM_001407683.1:c.83_84delTG
NM_001407684.1:c.83_84delTG
NM_001407685.1:c.83_84delTG
NM_001407686.1:c.83_84delTG
NM_001407687.1:c.83_84delTG
NM_001407688.1:c.83_84delTG
NM_001407689.1:c.83_84delTG
NM_001407690.1:c.83_84delTG
NM_001407691.1:c.83_84delTG
NM_001407694.1:c.-175_-174delTG
NM_001407695.1:c.-179_-178delTG
NM_001407696.1:c.-175_-174delTG
NM_001407697.1:c.-59_-58delTG
NM_001407724.1:c.-175_-174delTG
NM_001407725.1:c.-59_-58delTG
NM_001407727.1:c.-175_-174delTG
NM_001407728.1:c.-59_-58delTG
NM_001407729.1:c.-59_-58delTG
NM_001407730.1:c.-59_-58delTG
NM_001407731.1:c.-175_-174delTG
NM_001407733.1:c.-175_-174delTG
NM_001407734.1:c.-59_-58delTG
NM_001407735.1:c.-59_-58delTG
NM_001407737.1:c.-59_-58delTG
NM_001407739.1:c.-59_-58delTG
NM_001407740.1:c.-59_-58delTG
NM_001407741.1:c.-59_-58delTG
NM_001407743.1:c.-59_-58delTG
NM_001407745.1:c.-59_-58delTG
NM_001407746.1:c.-175_-174delTG
NM_001407748.1:c.-59_-58delTG
NM_001407749.1:c.-175_-174delTG
NM_001407752.1:c.-59_-58delTG
NM_001407838.1:c.-59_-58delTG
NM_001407839.1:c.-59_-58delTG
NM_001407841.1:c.-55_-54delTG
NM_001407842.1:c.-175_-174delTG
NM_001407843.1:c.-175_-174delTG
NM_001407844.1:c.-59_-58delTG
NM_001407846.1:c.-59_-58delTG
NM_001407847.1:c.-59_-58delTG
NM_001407848.1:c.-59_-58delTG
NM_001407850.1:c.-59_-58delTG
NM_001407851.1:c.-59_-58delTG
NM_001407853.1:c.-106_-105delTG
NM_001407854.1:c.83_84delTG
NM_001407858.1:c.83_84delTG
NM_001407859.1:c.83_84delTG
NM_001407860.1:c.83_84delTG
NM_001407861.1:c.83_84delTG
NM_001407862.1:c.83_84delTG
NM_001407863.1:c.83_84delTG
NM_001407874.1:c.83_84delTG
NM_001407875.1:c.83_84delTG
NM_001407879.1:c.-106_-105delTG
NM_001407882.1:c.-106_-105delTG
NM_001407884.1:c.-106_-105delTG
NM_001407885.1:c.-106_-105delTG
NM_001407886.1:c.-106_-105delTG
NM_001407887.1:c.-106_-105delTG
NM_001407889.1:c.-222_-221delTG
NM_001407894.1:c.-106_-105delTG
NM_001407895.1:c.-106_-105delTG
NM_001407896.1:c.-106_-105delTG
NM_001407897.1:c.-106_-105delTG
NM_001407899.1:c.-106_-105delTG
NM_001407900.1:c.-222_-221delTG
NM_001407904.1:c.-106_-105delTG
NM_001407906.1:c.-106_-105delTG
NM_001407907.1:c.-106_-105delTG
NM_001407908.1:c.-106_-105delTG
NM_001407909.1:c.-106_-105delTG
NM_001407910.1:c.-106_-105delTG
NM_001407915.1:c.-106_-105delTG
NM_001407916.1:c.-106_-105delTG
NM_001407917.1:c.-106_-105delTG
NM_001407918.1:c.-106_-105delTG
NM_001407919.1:c.83_84delTG
NM_001407920.1:c.-59_-58delTG
NM_001407921.1:c.-59_-58delTG
NM_001407922.1:c.-59_-58delTG
NM_001407923.1:c.-59_-58delTG
NM_001407926.1:c.-59_-58delTG
NM_001407927.1:c.-59_-58delTG
NM_001407930.1:c.-175_-174delTG
NM_001407933.1:c.-59_-58delTG
NM_001407934.1:c.-59_-58delTG
NM_001407935.1:c.-59_-58delTG
NM_001407937.1:c.83_84delTG
NM_001407938.1:c.83_84delTG
NM_001407939.1:c.83_84delTG
NM_001407940.1:c.83_84delTG
NM_001407941.1:c.83_84delTG
NM_001407942.1:c.-175_-174delTG
NM_001407943.1:c.-59_-58delTG
NM_001407944.1:c.-59_-58delTG
NM_001407946.1:c.-106_-105delTG
NM_001407947.1:c.-106_-105delTG
NM_001407948.1:c.-106_-105delTG
NM_001407949.1:c.-106_-105delTG
NM_001407950.1:c.-106_-105delTG
NM_001407951.1:c.-106_-105delTG
NM_001407952.1:c.-106_-105delTG
NM_001407953.1:c.-106_-105delTG
NM_001407954.1:c.-106_-105delTG
NM_001407955.1:c.-106_-105delTG
NM_001407956.1:c.-106_-105delTG
NM_001407957.1:c.-106_-105delTG
NM_001407958.1:c.-106_-105delTG
NM_001407960.1:c.-221_-220delTG
NM_001407962.1:c.-221_-220delTG
NM_001407964.1:c.-59_-58delTG
NM_001407965.1:c.-337_-336delTG
NM_001407968.1:c.83_84delTG
NM_001407969.1:c.83_84delTG
NM_001407970.1:c.83_84delTG
NM_001407971.1:c.83_84delTG
NM_001407972.1:c.83_84delTG
NM_001407973.1:c.83_84delTG
NM_001407974.1:c.83_84delTG
NM_001407975.1:c.83_84delTG
NM_001407976.1:c.83_84delTG
NM_001407977.1:c.83_84delTG
NM_001407978.1:c.83_84delTG
NM_001407979.1:c.83_84delTG
NM_001407980.1:c.83_84delTG
NM_001407981.1:c.83_84delTG
NM_001407982.1:c.83_84delTG
NM_001407983.1:c.83_84delTG
NM_001407984.1:c.83_84delTG
NM_001407985.1:c.83_84delTG
NM_001407986.1:c.83_84delTG
NM_001407990.1:c.83_84delTG
NM_001407991.1:c.83_84delTG
NM_001407992.1:c.83_84delTG
NM_001407993.1:c.83_84delTG
NM_001408392.1:c.83_84delTG
NM_001408396.1:c.83_84delTG
NM_001408397.1:c.83_84delTG
NM_001408398.1:c.83_84delTG
NM_001408399.1:c.83_84delTG
NM_001408400.1:c.83_84delTG
NM_001408401.1:c.83_84delTG
NM_001408402.1:c.83_84delTG
NM_001408403.1:c.83_84delTG
NM_001408404.1:c.83_84delTG
NM_001408406.1:c.83_84delTG
NM_001408407.1:c.83_84delTG
NM_001408408.1:c.83_84delTG
NM_001408409.1:c.83_84delTG
NM_001408410.1:c.-59_-58delTG
NM_001408411.1:c.83_84delTG
NM_001408412.1:c.83_84delTG
NM_001408413.1:c.83_84delTG
NM_001408414.1:c.83_84delTG
NM_001408415.1:c.83_84delTG
NM_001408416.1:c.83_84delTG
NM_001408418.1:c.83_84delTG
NM_001408419.1:c.83_84delTG
NM_001408420.1:c.83_84delTG
NM_001408421.1:c.83_84delTG
NM_001408422.1:c.83_84delTG
NM_001408423.1:c.83_84delTG
NM_001408424.1:c.83_84delTG
NM_001408425.1:c.83_84delTG
NM_001408426.1:c.83_84delTG
NM_001408427.1:c.83_84delTG
NM_001408428.1:c.83_84delTG
NM_001408429.1:c.83_84delTG
NM_001408430.1:c.83_84delTG
NM_001408431.1:c.83_84delTG
NM_001408432.1:c.83_84delTG
NM_001408433.1:c.83_84delTG
NM_001408434.1:c.83_84delTG
NM_001408435.1:c.83_84delTG
NM_001408436.1:c.83_84delTG
NM_001408437.1:c.83_84delTG
NM_001408438.1:c.83_84delTG
NM_001408439.1:c.83_84delTG
NM_001408440.1:c.83_84delTG
NM_001408441.1:c.83_84delTG
NM_001408442.1:c.83_84delTG
NM_001408443.1:c.83_84delTG
NM_001408444.1:c.83_84delTG
NM_001408445.1:c.83_84delTG
NM_001408446.1:c.83_84delTG
NM_001408447.1:c.83_84delTG
NM_001408448.1:c.83_84delTG
NM_001408450.1:c.83_84delTG
NM_001408452.1:c.-59_-58delTG
NM_001408453.1:c.-59_-58delTG
NM_001408455.1:c.-175_-174delTG
NM_001408456.1:c.-175_-174delTG
NM_001408458.1:c.-59_-58delTG
NM_001408462.1:c.-59_-58delTG
NM_001408463.1:c.-59_-58delTG
NM_001408465.1:c.-179_-178delTG
NM_001408466.1:c.-59_-58delTG
NM_001408468.1:c.-175_-174delTG
NM_001408469.1:c.-59_-58delTG
NM_001408470.1:c.-59_-58delTG
NM_001408472.1:c.83_84delTG
NM_001408473.1:c.83_84delTG
NM_001408474.1:c.83_84delTG
NM_001408475.1:c.83_84delTG
NM_001408476.1:c.83_84delTG
NM_001408478.1:c.-106_-105delTG
NM_001408479.1:c.-106_-105delTG
NM_001408480.1:c.-106_-105delTG
NM_001408481.1:c.-106_-105delTG
NM_001408482.1:c.-106_-105delTG
NM_001408483.1:c.-106_-105delTG
NM_001408484.1:c.-106_-105delTG
NM_001408485.1:c.-106_-105delTG
NM_001408489.1:c.-106_-105delTG
NM_001408490.1:c.-106_-105delTG
NM_001408491.1:c.-106_-105delTG
NM_001408492.1:c.-222_-221delTG
NM_001408493.1:c.-106_-105delTG
NM_001408494.1:c.83_84delTG
NM_001408495.1:c.83_84delTG
NM_001408497.1:c.-59_-58delTG
NM_001408499.1:c.-59_-58delTG
NM_001408500.1:c.-59_-58delTG
NM_001408501.1:c.-175_-174delTG
NM_001408502.1:c.-106_-105delTG
NM_001408503.1:c.-59_-58delTG
NM_001408504.1:c.-59_-58delTG
NM_001408505.1:c.-59_-58delTG
NM_001408506.1:c.-106_-105delTG
NM_001408507.1:c.-106_-105delTG
NM_001408508.1:c.-106_-105delTG
NM_001408509.1:c.-106_-105delTG
NM_001408510.1:c.-221_-220delTG
NM_001408512.1:c.-221_-220delTG
NM_001408513.1:c.-106_-105delTG
NM_001408514.1:c.-106_-105delTG
NM_007294.4:c.83_84delMANE SELECT
NM_007297.4:c.-8+8240_-8+8241del
NM_007298.4:c.83_84delTG
NM_007299.4:c.83_84del
NM_007300.4:c.83_84del
NM_007304.2:c.83_84delTG
NP_001394510.1:p.Leu28Argfs
NP_001394511.1:p.Leu28Argfs
NP_001394512.1:p.Leu28Argfs
NP_001394514.1:p.Leu28Argfs
NP_001394516.1:p.Leu28Argfs
NP_001394519.1:p.Leu28Argfs
NP_001394520.1:p.Leu28Argfs
NP_001394522.1:p.Leu28Argfs
NP_001394523.1:p.Leu28Argfs
NP_001394525.1:p.Leu28Argfs
NP_001394526.1:p.Leu28Argfs
NP_001394527.1:p.Leu28Argfs
NP_001394531.1:p.Leu28Argfs
NP_001394532.1:p.Leu28Argfs
NP_001394534.1:p.Leu28Argfs
NP_001394539.1:p.Leu28Argfs
NP_001394540.1:p.Leu28Argfs
NP_001394541.1:p.Leu28Argfs
NP_001394542.1:p.Leu28Argfs
NP_001394543.1:p.Leu28Argfs
NP_001394544.1:p.Leu28Argfs
NP_001394545.1:p.Leu28Argfs
NP_001394546.1:p.Leu28Argfs
NP_001394547.1:p.Leu28Argfs
NP_001394548.1:p.Leu28Argfs
NP_001394549.1:p.Leu28Argfs
NP_001394550.1:p.Leu28Argfs
NP_001394551.1:p.Leu28Argfs
NP_001394552.1:p.Leu28Argfs
NP_001394553.1:p.Leu28Argfs
NP_001394554.1:p.Leu28Argfs
NP_001394555.1:p.Leu28Argfs
NP_001394556.1:p.Leu28Argfs
NP_001394557.1:p.Leu28Argfs
NP_001394558.1:p.Leu28Argfs
NP_001394559.1:p.Leu28Argfs
NP_001394560.1:p.Leu28Argfs
NP_001394561.1:p.Leu28Argfs
NP_001394562.1:p.Leu28Argfs
NP_001394563.1:p.Leu28Argfs
NP_001394564.1:p.Leu28Argfs
NP_001394565.1:p.Leu28Argfs
NP_001394566.1:p.Leu28Argfs
NP_001394567.1:p.Leu28Argfs
NP_001394568.1:p.Leu28Argfs
NP_001394569.1:p.Leu28Argfs
NP_001394570.1:p.Leu28Argfs
NP_001394571.1:p.Leu28Argfs
NP_001394573.1:p.Leu28Argfs
NP_001394574.1:p.Leu28Argfs
NP_001394575.1:p.Leu28Argfs
NP_001394576.1:p.Leu28Argfs
NP_001394577.1:p.Leu28Argfs
NP_001394578.1:p.Leu28Argfs
NP_001394581.1:p.Leu28Argfs
NP_001394582.1:p.Leu28Argfs
NP_001394583.1:p.Leu28Argfs
NP_001394584.1:p.Leu28Argfs
NP_001394585.1:p.Leu28Argfs
NP_001394586.1:p.Leu28Argfs
NP_001394587.1:p.Leu28Argfs
NP_001394588.1:p.Leu28Argfs
NP_001394589.1:p.Leu28Argfs
NP_001394590.1:p.Leu28Argfs
NP_001394591.1:p.Leu28Argfs
NP_001394592.1:p.Leu28Argfs
NP_001394593.1:p.Leu28Argfs
NP_001394594.1:p.Leu28Argfs
NP_001394595.1:p.Leu28Argfs
NP_001394596.1:p.Leu28Argfs
NP_001394597.1:p.Leu28Argfs
NP_001394598.1:p.Leu28Argfs
NP_001394599.1:p.Leu28Argfs
NP_001394600.1:p.Leu28Argfs
NP_001394601.1:p.Leu28Argfs
NP_001394602.1:p.Leu28Argfs
NP_001394603.1:p.Leu28Argfs
NP_001394604.1:p.Leu28Argfs
NP_001394605.1:p.Leu28Argfs
NP_001394606.1:p.Leu28Argfs
NP_001394607.1:p.Leu28Argfs
NP_001394608.1:p.Leu28Argfs
NP_001394609.1:p.Leu28Argfs
NP_001394610.1:p.Leu28Argfs
NP_001394611.1:p.Leu28Argfs
NP_001394612.1:p.Leu28Argfs
NP_001394613.1:p.Leu28Argfs
NP_001394614.1:p.Leu28Argfs
NP_001394615.1:p.Leu28Argfs
NP_001394616.1:p.Leu28Argfs
NP_001394617.1:p.Leu28Argfs
NP_001394618.1:p.Leu28Argfs
NP_001394619.1:p.Leu28Argfs
NP_001394620.1:p.Leu28Argfs
NP_001394783.1:p.Leu28Argfs
NP_001394787.1:p.Leu28Argfs
NP_001394788.1:p.Leu28Argfs
NP_001394789.1:p.Leu28Argfs
NP_001394790.1:p.Leu28Argfs
NP_001394791.1:p.Leu28Argfs
NP_001394792.1:p.Leu28Argfs
NP_001394803.1:p.Leu28Argfs
NP_001394804.1:p.Leu28Argfs
NP_001394848.1:p.Leu28Argfs
NP_001394866.1:p.Leu28Argfs
NP_001394867.1:p.Leu28Argfs
NP_001394868.1:p.Leu28Argfs
NP_001394869.1:p.Leu28Argfs
NP_001394870.1:p.Leu28Argfs
NP_001394897.1:p.Leu28Argfs
NP_001394898.1:p.Leu28Argfs
NP_001394899.1:p.Leu28Argfs
NP_001394900.1:p.Leu28Argfs
NP_001394901.1:p.Leu28Argfs
NP_001394902.1:p.Leu28Argfs
NP_001394903.1:p.Leu28Argfs
NP_001394904.1:p.Leu28Argfs
NP_001394905.1:p.Leu28Argfs
NP_001394906.1:p.Leu28Argfs
NP_001394907.1:p.Leu28Argfs
NP_001394908.1:p.Leu28Argfs
NP_001394909.1:p.Leu28Argfs
NP_001394910.1:p.Leu28Argfs
NP_001394911.1:p.Leu28Argfs
NP_001394912.1:p.Leu28Argfs
NP_001394913.1:p.Leu28Argfs
NP_001394914.1:p.Leu28Argfs
NP_001394915.1:p.Leu28Argfs
NP_001394919.1:p.Leu28Argfs
NP_001394920.1:p.Leu28Argfs
NP_001394921.1:p.Leu28Argfs
NP_001394922.1:p.Leu28Argfs
NP_001395321.1:p.Leu28Argfs
NP_001395325.1:p.Leu28Argfs
NP_001395326.1:p.Leu28Argfs
NP_001395327.1:p.Leu28Argfs
NP_001395328.1:p.Leu28Argfs
NP_001395329.1:p.Leu28Argfs
NP_001395330.1:p.Leu28Argfs
NP_001395331.1:p.Leu28Argfs
NP_001395332.1:p.Leu28Argfs
NP_001395333.1:p.Leu28Argfs
NP_001395335.1:p.Leu28Argfs
NP_001395336.1:p.Leu28Argfs
NP_001395337.1:p.Leu28Argfs
NP_001395338.1:p.Leu28Argfs
NP_001395340.1:p.Leu28Argfs
NP_001395341.1:p.Leu28Argfs
NP_001395342.1:p.Leu28Argfs
NP_001395343.1:p.Leu28Argfs
NP_001395344.1:p.Leu28Argfs
NP_001395345.1:p.Leu28Argfs
NP_001395347.1:p.Leu28Argfs
NP_001395348.1:p.Leu28Argfs
NP_001395349.1:p.Leu28Argfs
NP_001395350.1:p.Leu28Argfs
NP_001395351.1:p.Leu28Argfs
NP_001395352.1:p.Leu28Argfs
NP_001395353.1:p.Leu28Argfs
NP_001395354.1:p.Leu28Argfs
NP_001395355.1:p.Leu28Argfs
NP_001395356.1:p.Leu28Argfs
NP_001395357.1:p.Leu28Argfs
NP_001395358.1:p.Leu28Argfs
NP_001395359.1:p.Leu28Argfs
NP_001395360.1:p.Leu28Argfs
NP_001395361.1:p.Leu28Argfs
NP_001395362.1:p.Leu28Argfs
NP_001395363.1:p.Leu28Argfs
NP_001395364.1:p.Leu28Argfs
NP_001395365.1:p.Leu28Argfs
NP_001395366.1:p.Leu28Argfs
NP_001395367.1:p.Leu28Argfs
NP_001395368.1:p.Leu28Argfs
NP_001395369.1:p.Leu28Argfs
NP_001395370.1:p.Leu28Argfs
NP_001395371.1:p.Leu28Argfs
NP_001395372.1:p.Leu28Argfs
NP_001395373.1:p.Leu28Argfs
NP_001395374.1:p.Leu28Argfs
NP_001395375.1:p.Leu28Argfs
NP_001395376.1:p.Leu28Argfs
NP_001395377.1:p.Leu28Argfs
NP_001395379.1:p.Leu28Argfs
NP_001395401.1:p.Leu28Argfs
NP_001395402.1:p.Leu28Argfs
NP_001395403.1:p.Leu28Argfs
NP_001395404.1:p.Leu28Argfs
NP_001395405.1:p.Leu28Argfs
NP_001395423.1:p.Leu28Argfs
NP_001395424.1:p.Leu28Argfs
NP_009225.1:p.Leu28Argfs
NP_009225.1:p.Leu28fs
NP_009229.2:p.Leu28Argfs
NP_009229.2:p.Leu28fs
NP_009230.2:p.Leu28fs
NP_009231.2:p.Leu28fs
NP_009235.2:p.Leu28Argfs
LRG_292t1:c.83_84del
LRG_292:g.102207_102208del
LRG_292p1:p.Leu28Argfs
NC_000017.10:g.41267793_41267794del
NM_007294.3:c.83_84delTG
NM_007294.3:c.83_84delTG
NM_007298.3:c.83_84del
NR_027676.2:n.285_286del
U14680.1:n.202_203delTG

Protein change:

L28fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 202&base_change=del TG; dbSNP: rs80357728

NCBI 1000 Genomes Browser:

rs80357728

Molecular consequence:

NM_001407581.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407971.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407972.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407973.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407974.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407975.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407976.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407977.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407978.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407979.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407980.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407981.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407982.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407983.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407984.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407985.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407986.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407990.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407991.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407992.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407993.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408392.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408396.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408397.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408398.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408399.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408400.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408401.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408402.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408403.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408404.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408406.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408407.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408408.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408409.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408411.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408412.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408413.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408414.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408415.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408416.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408418.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408419.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408420.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408421.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408422.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408423.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408424.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408425.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408426.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408427.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408428.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408429.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408430.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408431.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408432.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408433.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408434.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408435.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408436.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408437.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408438.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408439.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408440.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408441.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408442.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408443.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408444.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408445.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408446.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408447.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408448.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408450.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408472.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408473.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408474.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408475.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408476.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408494.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001408495.1:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.83_84del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007298.4:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007299.4:c.83_84del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.83_84del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007304.2:c.83_84delTG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.-8+8240_-8+8241del - intron variant - [Sequence Ontology: SO:0001627]
NR_027676.2:n.285_286del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001592126	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 23, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18645608, 22684231, 20104584, 28492532
SCV003923025	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Mar 24, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29446198, 28478614 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001592126

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 23, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV003923025

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Mar 24, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

Uhrhammer N, Abdelouahab A, Lafarge L, Feillel V, Ben Dib A, Bignon YJ.

Int J Med Sci. 2008 Jul 8;5(4):197-202.

PubMed [citation]

PMID:: 18645608
PMCID:: PMC2452980

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

PubMed [citation]

PMID:: 22684231
PMCID:: PMC3826381

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001592126.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55733). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 18645608, 20104584, 22684231). This sequence change creates a premature translational stop signal (p.Leu28Argfs*12) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003923025.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: BRCA1 c.83_84delTG (p.Leu28ArgfsX12) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250508 control chromosomes (gnomAD). c.83_84delTG has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer (example: Gaceb_2018 and Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Five submitters (including an expert panel - ENIGMA) have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine