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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 6, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000216341.12

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 cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000277463Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 6, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 germline mutations screening in Algerian breast/ovarian cancer families.

Cherbal F, Bakour R, Adane S, Boualga K, Benais-Pont G, Maillet P.

Dis Markers. 2010;28(6):377-84. doi: 10.3233/DMA-2010-0718.

PubMed [citation]
PMID:
20683152
PMCID:
PMC3833328

Details of each submission

From Ambry Genetics, SCV000277463.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.83_84delTG pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 83 to 84, causing a translational frameshift with a predicted alternate stop codon (p.L28Rfs*12). This alteration has been reported in multiple Algerian families diagnosed with hereditary breast and/or ovarian cancer syndrome (HBOC) (Uhrhammer N et al. Int J Med Sci. 2008; 5(4):197-202; Cherbal F et al. Dis. Markers. 2010; 28(6):377-84). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024