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NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 2016
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:
RCV000588761.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)]

NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro)
HGVS:
  • NC_000017.11:g.43115777A>G
  • NG_005905.2:g.102207T>C
  • NM_001407571.1:c.-106T>C
  • NM_001407581.1:c.83T>C
  • NM_001407582.1:c.83T>C
  • NM_001407583.1:c.83T>C
  • NM_001407585.1:c.83T>C
  • NM_001407587.1:c.83T>C
  • NM_001407590.1:c.83T>C
  • NM_001407591.1:c.83T>C
  • NM_001407593.1:c.83T>C
  • NM_001407594.1:c.83T>C
  • NM_001407596.1:c.83T>C
  • NM_001407597.1:c.83T>C
  • NM_001407598.1:c.83T>C
  • NM_001407602.1:c.83T>C
  • NM_001407603.1:c.83T>C
  • NM_001407605.1:c.83T>C
  • NM_001407610.1:c.83T>C
  • NM_001407611.1:c.83T>C
  • NM_001407612.1:c.83T>C
  • NM_001407613.1:c.83T>C
  • NM_001407614.1:c.83T>C
  • NM_001407615.1:c.83T>C
  • NM_001407616.1:c.83T>C
  • NM_001407617.1:c.83T>C
  • NM_001407618.1:c.83T>C
  • NM_001407619.1:c.83T>C
  • NM_001407620.1:c.83T>C
  • NM_001407621.1:c.83T>C
  • NM_001407622.1:c.83T>C
  • NM_001407623.1:c.83T>C
  • NM_001407624.1:c.83T>C
  • NM_001407625.1:c.83T>C
  • NM_001407626.1:c.83T>C
  • NM_001407627.1:c.83T>C
  • NM_001407628.1:c.83T>C
  • NM_001407629.1:c.83T>C
  • NM_001407630.1:c.83T>C
  • NM_001407631.1:c.83T>C
  • NM_001407632.1:c.83T>C
  • NM_001407633.1:c.83T>C
  • NM_001407634.1:c.83T>C
  • NM_001407635.1:c.83T>C
  • NM_001407636.1:c.83T>C
  • NM_001407637.1:c.83T>C
  • NM_001407638.1:c.83T>C
  • NM_001407639.1:c.83T>C
  • NM_001407640.1:c.83T>C
  • NM_001407641.1:c.83T>C
  • NM_001407642.1:c.83T>C
  • NM_001407644.1:c.83T>C
  • NM_001407645.1:c.83T>C
  • NM_001407646.1:c.83T>C
  • NM_001407647.1:c.83T>C
  • NM_001407648.1:c.83T>C
  • NM_001407649.1:c.83T>C
  • NM_001407652.1:c.83T>C
  • NM_001407653.1:c.83T>C
  • NM_001407654.1:c.83T>C
  • NM_001407655.1:c.83T>C
  • NM_001407656.1:c.83T>C
  • NM_001407657.1:c.83T>C
  • NM_001407658.1:c.83T>C
  • NM_001407659.1:c.83T>C
  • NM_001407660.1:c.83T>C
  • NM_001407661.1:c.83T>C
  • NM_001407662.1:c.83T>C
  • NM_001407663.1:c.83T>C
  • NM_001407664.1:c.83T>C
  • NM_001407665.1:c.83T>C
  • NM_001407666.1:c.83T>C
  • NM_001407667.1:c.83T>C
  • NM_001407668.1:c.83T>C
  • NM_001407669.1:c.83T>C
  • NM_001407670.1:c.83T>C
  • NM_001407671.1:c.83T>C
  • NM_001407672.1:c.83T>C
  • NM_001407673.1:c.83T>C
  • NM_001407674.1:c.83T>C
  • NM_001407675.1:c.83T>C
  • NM_001407676.1:c.83T>C
  • NM_001407677.1:c.83T>C
  • NM_001407678.1:c.83T>C
  • NM_001407679.1:c.83T>C
  • NM_001407680.1:c.83T>C
  • NM_001407681.1:c.83T>C
  • NM_001407682.1:c.83T>C
  • NM_001407683.1:c.83T>C
  • NM_001407684.1:c.83T>C
  • NM_001407685.1:c.83T>C
  • NM_001407686.1:c.83T>C
  • NM_001407687.1:c.83T>C
  • NM_001407688.1:c.83T>C
  • NM_001407689.1:c.83T>C
  • NM_001407690.1:c.83T>C
  • NM_001407691.1:c.83T>C
  • NM_001407694.1:c.-175T>C
  • NM_001407695.1:c.-179T>C
  • NM_001407696.1:c.-175T>C
  • NM_001407697.1:c.-59T>C
  • NM_001407724.1:c.-175T>C
  • NM_001407725.1:c.-59T>C
  • NM_001407727.1:c.-175T>C
  • NM_001407728.1:c.-59T>C
  • NM_001407729.1:c.-59T>C
  • NM_001407730.1:c.-59T>C
  • NM_001407731.1:c.-175T>C
  • NM_001407733.1:c.-175T>C
  • NM_001407734.1:c.-59T>C
  • NM_001407735.1:c.-59T>C
  • NM_001407737.1:c.-59T>C
  • NM_001407739.1:c.-59T>C
  • NM_001407740.1:c.-59T>C
  • NM_001407741.1:c.-59T>C
  • NM_001407743.1:c.-59T>C
  • NM_001407745.1:c.-59T>C
  • NM_001407746.1:c.-175T>C
  • NM_001407748.1:c.-59T>C
  • NM_001407749.1:c.-175T>C
  • NM_001407752.1:c.-59T>C
  • NM_001407838.1:c.-59T>C
  • NM_001407839.1:c.-59T>C
  • NM_001407841.1:c.-55T>C
  • NM_001407842.1:c.-175T>C
  • NM_001407843.1:c.-175T>C
  • NM_001407844.1:c.-59T>C
  • NM_001407846.1:c.-59T>C
  • NM_001407847.1:c.-59T>C
  • NM_001407848.1:c.-59T>C
  • NM_001407850.1:c.-59T>C
  • NM_001407851.1:c.-59T>C
  • NM_001407853.1:c.-106T>C
  • NM_001407854.1:c.83T>C
  • NM_001407858.1:c.83T>C
  • NM_001407859.1:c.83T>C
  • NM_001407860.1:c.83T>C
  • NM_001407861.1:c.83T>C
  • NM_001407862.1:c.83T>C
  • NM_001407863.1:c.83T>C
  • NM_001407874.1:c.83T>C
  • NM_001407875.1:c.83T>C
  • NM_001407879.1:c.-106T>C
  • NM_001407882.1:c.-106T>C
  • NM_001407884.1:c.-106T>C
  • NM_001407885.1:c.-106T>C
  • NM_001407886.1:c.-106T>C
  • NM_001407887.1:c.-106T>C
  • NM_001407889.1:c.-222T>C
  • NM_001407894.1:c.-106T>C
  • NM_001407895.1:c.-106T>C
  • NM_001407896.1:c.-106T>C
  • NM_001407897.1:c.-106T>C
  • NM_001407899.1:c.-106T>C
  • NM_001407900.1:c.-222T>C
  • NM_001407904.1:c.-106T>C
  • NM_001407906.1:c.-106T>C
  • NM_001407907.1:c.-106T>C
  • NM_001407908.1:c.-106T>C
  • NM_001407909.1:c.-106T>C
  • NM_001407910.1:c.-106T>C
  • NM_001407915.1:c.-106T>C
  • NM_001407916.1:c.-106T>C
  • NM_001407917.1:c.-106T>C
  • NM_001407918.1:c.-106T>C
  • NM_001407919.1:c.83T>C
  • NM_001407920.1:c.-59T>C
  • NM_001407921.1:c.-59T>C
  • NM_001407922.1:c.-59T>C
  • NM_001407923.1:c.-59T>C
  • NM_001407926.1:c.-59T>C
  • NM_001407927.1:c.-59T>C
  • NM_001407930.1:c.-175T>C
  • NM_001407933.1:c.-59T>C
  • NM_001407934.1:c.-59T>C
  • NM_001407935.1:c.-59T>C
  • NM_001407937.1:c.83T>C
  • NM_001407938.1:c.83T>C
  • NM_001407939.1:c.83T>C
  • NM_001407940.1:c.83T>C
  • NM_001407941.1:c.83T>C
  • NM_001407942.1:c.-175T>C
  • NM_001407943.1:c.-59T>C
  • NM_001407944.1:c.-59T>C
  • NM_001407946.1:c.-106T>C
  • NM_001407947.1:c.-106T>C
  • NM_001407948.1:c.-106T>C
  • NM_001407949.1:c.-106T>C
  • NM_001407950.1:c.-106T>C
  • NM_001407951.1:c.-106T>C
  • NM_001407952.1:c.-106T>C
  • NM_001407953.1:c.-106T>C
  • NM_001407954.1:c.-106T>C
  • NM_001407955.1:c.-106T>C
  • NM_001407956.1:c.-106T>C
  • NM_001407957.1:c.-106T>C
  • NM_001407958.1:c.-106T>C
  • NM_001407960.1:c.-221T>C
  • NM_001407962.1:c.-221T>C
  • NM_001407964.1:c.-59T>C
  • NM_001407965.1:c.-337T>C
  • NM_001407968.1:c.83T>C
  • NM_001407969.1:c.83T>C
  • NM_001407970.1:c.83T>C
  • NM_001407971.1:c.83T>C
  • NM_001407972.1:c.83T>C
  • NM_001407973.1:c.83T>C
  • NM_001407974.1:c.83T>C
  • NM_001407975.1:c.83T>C
  • NM_001407976.1:c.83T>C
  • NM_001407977.1:c.83T>C
  • NM_001407978.1:c.83T>C
  • NM_001407979.1:c.83T>C
  • NM_001407980.1:c.83T>C
  • NM_001407981.1:c.83T>C
  • NM_001407982.1:c.83T>C
  • NM_001407983.1:c.83T>C
  • NM_001407984.1:c.83T>C
  • NM_001407985.1:c.83T>C
  • NM_001407986.1:c.83T>C
  • NM_001407990.1:c.83T>C
  • NM_001407991.1:c.83T>C
  • NM_001407992.1:c.83T>C
  • NM_001407993.1:c.83T>C
  • NM_001408392.1:c.83T>C
  • NM_001408396.1:c.83T>C
  • NM_001408397.1:c.83T>C
  • NM_001408398.1:c.83T>C
  • NM_001408399.1:c.83T>C
  • NM_001408400.1:c.83T>C
  • NM_001408401.1:c.83T>C
  • NM_001408402.1:c.83T>C
  • NM_001408403.1:c.83T>C
  • NM_001408404.1:c.83T>C
  • NM_001408406.1:c.83T>C
  • NM_001408407.1:c.83T>C
  • NM_001408408.1:c.83T>C
  • NM_001408409.1:c.83T>C
  • NM_001408410.1:c.-59T>C
  • NM_001408411.1:c.83T>C
  • NM_001408412.1:c.83T>C
  • NM_001408413.1:c.83T>C
  • NM_001408414.1:c.83T>C
  • NM_001408415.1:c.83T>C
  • NM_001408416.1:c.83T>C
  • NM_001408418.1:c.83T>C
  • NM_001408419.1:c.83T>C
  • NM_001408420.1:c.83T>C
  • NM_001408421.1:c.83T>C
  • NM_001408422.1:c.83T>C
  • NM_001408423.1:c.83T>C
  • NM_001408424.1:c.83T>C
  • NM_001408425.1:c.83T>C
  • NM_001408426.1:c.83T>C
  • NM_001408427.1:c.83T>C
  • NM_001408428.1:c.83T>C
  • NM_001408429.1:c.83T>C
  • NM_001408430.1:c.83T>C
  • NM_001408431.1:c.83T>C
  • NM_001408432.1:c.83T>C
  • NM_001408433.1:c.83T>C
  • NM_001408434.1:c.83T>C
  • NM_001408435.1:c.83T>C
  • NM_001408436.1:c.83T>C
  • NM_001408437.1:c.83T>C
  • NM_001408438.1:c.83T>C
  • NM_001408439.1:c.83T>C
  • NM_001408440.1:c.83T>C
  • NM_001408441.1:c.83T>C
  • NM_001408442.1:c.83T>C
  • NM_001408443.1:c.83T>C
  • NM_001408444.1:c.83T>C
  • NM_001408445.1:c.83T>C
  • NM_001408446.1:c.83T>C
  • NM_001408447.1:c.83T>C
  • NM_001408448.1:c.83T>C
  • NM_001408450.1:c.83T>C
  • NM_001408452.1:c.-59T>C
  • NM_001408453.1:c.-59T>C
  • NM_001408455.1:c.-175T>C
  • NM_001408456.1:c.-175T>C
  • NM_001408458.1:c.-59T>C
  • NM_001408462.1:c.-59T>C
  • NM_001408463.1:c.-59T>C
  • NM_001408465.1:c.-179T>C
  • NM_001408466.1:c.-59T>C
  • NM_001408468.1:c.-175T>C
  • NM_001408469.1:c.-59T>C
  • NM_001408470.1:c.-59T>C
  • NM_001408472.1:c.83T>C
  • NM_001408473.1:c.83T>C
  • NM_001408474.1:c.83T>C
  • NM_001408475.1:c.83T>C
  • NM_001408476.1:c.83T>C
  • NM_001408478.1:c.-106T>C
  • NM_001408479.1:c.-106T>C
  • NM_001408480.1:c.-106T>C
  • NM_001408481.1:c.-106T>C
  • NM_001408482.1:c.-106T>C
  • NM_001408483.1:c.-106T>C
  • NM_001408484.1:c.-106T>C
  • NM_001408485.1:c.-106T>C
  • NM_001408489.1:c.-106T>C
  • NM_001408490.1:c.-106T>C
  • NM_001408491.1:c.-106T>C
  • NM_001408492.1:c.-222T>C
  • NM_001408493.1:c.-106T>C
  • NM_001408494.1:c.83T>C
  • NM_001408495.1:c.83T>C
  • NM_001408497.1:c.-59T>C
  • NM_001408499.1:c.-59T>C
  • NM_001408500.1:c.-59T>C
  • NM_001408501.1:c.-175T>C
  • NM_001408502.1:c.-106T>C
  • NM_001408503.1:c.-59T>C
  • NM_001408504.1:c.-59T>C
  • NM_001408505.1:c.-59T>C
  • NM_001408506.1:c.-106T>C
  • NM_001408507.1:c.-106T>C
  • NM_001408508.1:c.-106T>C
  • NM_001408509.1:c.-106T>C
  • NM_001408510.1:c.-221T>C
  • NM_001408512.1:c.-221T>C
  • NM_001408513.1:c.-106T>C
  • NM_001408514.1:c.-106T>C
  • NM_007294.4:c.83T>CMANE SELECT
  • NM_007297.4:c.-8+8240T>C
  • NM_007298.4:c.83T>C
  • NM_007299.4:c.83T>C
  • NM_007300.4:c.83T>C
  • NM_007304.2:c.83T>C
  • NP_001394510.1:p.Leu28Pro
  • NP_001394511.1:p.Leu28Pro
  • NP_001394512.1:p.Leu28Pro
  • NP_001394514.1:p.Leu28Pro
  • NP_001394516.1:p.Leu28Pro
  • NP_001394519.1:p.Leu28Pro
  • NP_001394520.1:p.Leu28Pro
  • NP_001394522.1:p.Leu28Pro
  • NP_001394523.1:p.Leu28Pro
  • NP_001394525.1:p.Leu28Pro
  • NP_001394526.1:p.Leu28Pro
  • NP_001394527.1:p.Leu28Pro
  • NP_001394531.1:p.Leu28Pro
  • NP_001394532.1:p.Leu28Pro
  • NP_001394534.1:p.Leu28Pro
  • NP_001394539.1:p.Leu28Pro
  • NP_001394540.1:p.Leu28Pro
  • NP_001394541.1:p.Leu28Pro
  • NP_001394542.1:p.Leu28Pro
  • NP_001394543.1:p.Leu28Pro
  • NP_001394544.1:p.Leu28Pro
  • NP_001394545.1:p.Leu28Pro
  • NP_001394546.1:p.Leu28Pro
  • NP_001394547.1:p.Leu28Pro
  • NP_001394548.1:p.Leu28Pro
  • NP_001394549.1:p.Leu28Pro
  • NP_001394550.1:p.Leu28Pro
  • NP_001394551.1:p.Leu28Pro
  • NP_001394552.1:p.Leu28Pro
  • NP_001394553.1:p.Leu28Pro
  • NP_001394554.1:p.Leu28Pro
  • NP_001394555.1:p.Leu28Pro
  • NP_001394556.1:p.Leu28Pro
  • NP_001394557.1:p.Leu28Pro
  • NP_001394558.1:p.Leu28Pro
  • NP_001394559.1:p.Leu28Pro
  • NP_001394560.1:p.Leu28Pro
  • NP_001394561.1:p.Leu28Pro
  • NP_001394562.1:p.Leu28Pro
  • NP_001394563.1:p.Leu28Pro
  • NP_001394564.1:p.Leu28Pro
  • NP_001394565.1:p.Leu28Pro
  • NP_001394566.1:p.Leu28Pro
  • NP_001394567.1:p.Leu28Pro
  • NP_001394568.1:p.Leu28Pro
  • NP_001394569.1:p.Leu28Pro
  • NP_001394570.1:p.Leu28Pro
  • NP_001394571.1:p.Leu28Pro
  • NP_001394573.1:p.Leu28Pro
  • NP_001394574.1:p.Leu28Pro
  • NP_001394575.1:p.Leu28Pro
  • NP_001394576.1:p.Leu28Pro
  • NP_001394577.1:p.Leu28Pro
  • NP_001394578.1:p.Leu28Pro
  • NP_001394581.1:p.Leu28Pro
  • NP_001394582.1:p.Leu28Pro
  • NP_001394583.1:p.Leu28Pro
  • NP_001394584.1:p.Leu28Pro
  • NP_001394585.1:p.Leu28Pro
  • NP_001394586.1:p.Leu28Pro
  • NP_001394587.1:p.Leu28Pro
  • NP_001394588.1:p.Leu28Pro
  • NP_001394589.1:p.Leu28Pro
  • NP_001394590.1:p.Leu28Pro
  • NP_001394591.1:p.Leu28Pro
  • NP_001394592.1:p.Leu28Pro
  • NP_001394593.1:p.Leu28Pro
  • NP_001394594.1:p.Leu28Pro
  • NP_001394595.1:p.Leu28Pro
  • NP_001394596.1:p.Leu28Pro
  • NP_001394597.1:p.Leu28Pro
  • NP_001394598.1:p.Leu28Pro
  • NP_001394599.1:p.Leu28Pro
  • NP_001394600.1:p.Leu28Pro
  • NP_001394601.1:p.Leu28Pro
  • NP_001394602.1:p.Leu28Pro
  • NP_001394603.1:p.Leu28Pro
  • NP_001394604.1:p.Leu28Pro
  • NP_001394605.1:p.Leu28Pro
  • NP_001394606.1:p.Leu28Pro
  • NP_001394607.1:p.Leu28Pro
  • NP_001394608.1:p.Leu28Pro
  • NP_001394609.1:p.Leu28Pro
  • NP_001394610.1:p.Leu28Pro
  • NP_001394611.1:p.Leu28Pro
  • NP_001394612.1:p.Leu28Pro
  • NP_001394613.1:p.Leu28Pro
  • NP_001394614.1:p.Leu28Pro
  • NP_001394615.1:p.Leu28Pro
  • NP_001394616.1:p.Leu28Pro
  • NP_001394617.1:p.Leu28Pro
  • NP_001394618.1:p.Leu28Pro
  • NP_001394619.1:p.Leu28Pro
  • NP_001394620.1:p.Leu28Pro
  • NP_001394783.1:p.Leu28Pro
  • NP_001394787.1:p.Leu28Pro
  • NP_001394788.1:p.Leu28Pro
  • NP_001394789.1:p.Leu28Pro
  • NP_001394790.1:p.Leu28Pro
  • NP_001394791.1:p.Leu28Pro
  • NP_001394792.1:p.Leu28Pro
  • NP_001394803.1:p.Leu28Pro
  • NP_001394804.1:p.Leu28Pro
  • NP_001394848.1:p.Leu28Pro
  • NP_001394866.1:p.Leu28Pro
  • NP_001394867.1:p.Leu28Pro
  • NP_001394868.1:p.Leu28Pro
  • NP_001394869.1:p.Leu28Pro
  • NP_001394870.1:p.Leu28Pro
  • NP_001394897.1:p.Leu28Pro
  • NP_001394898.1:p.Leu28Pro
  • NP_001394899.1:p.Leu28Pro
  • NP_001394900.1:p.Leu28Pro
  • NP_001394901.1:p.Leu28Pro
  • NP_001394902.1:p.Leu28Pro
  • NP_001394903.1:p.Leu28Pro
  • NP_001394904.1:p.Leu28Pro
  • NP_001394905.1:p.Leu28Pro
  • NP_001394906.1:p.Leu28Pro
  • NP_001394907.1:p.Leu28Pro
  • NP_001394908.1:p.Leu28Pro
  • NP_001394909.1:p.Leu28Pro
  • NP_001394910.1:p.Leu28Pro
  • NP_001394911.1:p.Leu28Pro
  • NP_001394912.1:p.Leu28Pro
  • NP_001394913.1:p.Leu28Pro
  • NP_001394914.1:p.Leu28Pro
  • NP_001394915.1:p.Leu28Pro
  • NP_001394919.1:p.Leu28Pro
  • NP_001394920.1:p.Leu28Pro
  • NP_001394921.1:p.Leu28Pro
  • NP_001394922.1:p.Leu28Pro
  • NP_001395321.1:p.Leu28Pro
  • NP_001395325.1:p.Leu28Pro
  • NP_001395326.1:p.Leu28Pro
  • NP_001395327.1:p.Leu28Pro
  • NP_001395328.1:p.Leu28Pro
  • NP_001395329.1:p.Leu28Pro
  • NP_001395330.1:p.Leu28Pro
  • NP_001395331.1:p.Leu28Pro
  • NP_001395332.1:p.Leu28Pro
  • NP_001395333.1:p.Leu28Pro
  • NP_001395335.1:p.Leu28Pro
  • NP_001395336.1:p.Leu28Pro
  • NP_001395337.1:p.Leu28Pro
  • NP_001395338.1:p.Leu28Pro
  • NP_001395340.1:p.Leu28Pro
  • NP_001395341.1:p.Leu28Pro
  • NP_001395342.1:p.Leu28Pro
  • NP_001395343.1:p.Leu28Pro
  • NP_001395344.1:p.Leu28Pro
  • NP_001395345.1:p.Leu28Pro
  • NP_001395347.1:p.Leu28Pro
  • NP_001395348.1:p.Leu28Pro
  • NP_001395349.1:p.Leu28Pro
  • NP_001395350.1:p.Leu28Pro
  • NP_001395351.1:p.Leu28Pro
  • NP_001395352.1:p.Leu28Pro
  • NP_001395353.1:p.Leu28Pro
  • NP_001395354.1:p.Leu28Pro
  • NP_001395355.1:p.Leu28Pro
  • NP_001395356.1:p.Leu28Pro
  • NP_001395357.1:p.Leu28Pro
  • NP_001395358.1:p.Leu28Pro
  • NP_001395359.1:p.Leu28Pro
  • NP_001395360.1:p.Leu28Pro
  • NP_001395361.1:p.Leu28Pro
  • NP_001395362.1:p.Leu28Pro
  • NP_001395363.1:p.Leu28Pro
  • NP_001395364.1:p.Leu28Pro
  • NP_001395365.1:p.Leu28Pro
  • NP_001395366.1:p.Leu28Pro
  • NP_001395367.1:p.Leu28Pro
  • NP_001395368.1:p.Leu28Pro
  • NP_001395369.1:p.Leu28Pro
  • NP_001395370.1:p.Leu28Pro
  • NP_001395371.1:p.Leu28Pro
  • NP_001395372.1:p.Leu28Pro
  • NP_001395373.1:p.Leu28Pro
  • NP_001395374.1:p.Leu28Pro
  • NP_001395375.1:p.Leu28Pro
  • NP_001395376.1:p.Leu28Pro
  • NP_001395377.1:p.Leu28Pro
  • NP_001395379.1:p.Leu28Pro
  • NP_001395401.1:p.Leu28Pro
  • NP_001395402.1:p.Leu28Pro
  • NP_001395403.1:p.Leu28Pro
  • NP_001395404.1:p.Leu28Pro
  • NP_001395405.1:p.Leu28Pro
  • NP_001395423.1:p.Leu28Pro
  • NP_001395424.1:p.Leu28Pro
  • NP_009225.1:p.Leu28Pro
  • NP_009225.1:p.Leu28Pro
  • NP_009229.2:p.Leu28Pro
  • NP_009229.2:p.Leu28Pro
  • NP_009230.2:p.Leu28Pro
  • NP_009231.2:p.Leu28Pro
  • NP_009235.2:p.Leu28Pro
  • LRG_292t1:c.83T>C
  • LRG_292:g.102207T>C
  • LRG_292p1:p.Leu28Pro
  • NC_000017.10:g.41267794A>G
  • NM_007294.3:c.83T>C
  • NM_007298.3:c.83T>C
  • NR_027676.2:n.285T>C
  • U14680.1:n.202T>C
Nucleotide change:
202T>C
Protein change:
L28P
Links:
dbSNP: rs80357266
NCBI 1000 Genomes Browser:
rs80357266
Molecular consequence:
  • NM_007297.4:c.-8+8240T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.83T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.285T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568438GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 21, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000568438.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted BRCA1 c.83T>C at the cDNA level, p.Leu28Pro (L28P) at the protein level, and results in the change of a Leucine to a Proline (CTG>CCG). Using alternate nomenclature, this variant would be defined as BRCA1 202T>C. This variant was observed in at least one individual with a personal and/or family history suspicious for Hereditary Breast and Ovarian Cancer (Kurian 2008). BRCA1 Leu28Pro was evaluated by yeast two-hybrid assay to have intact BARD1 and E3 binding, but reduced E3 ligase activity (Morris 2006). BRCA1 Leu28Pro was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Leucine and Proline differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Leu28Pro occurs at a position that is conserved in mammals and is located in the ring figure domain and a region known to interact with multiple other proteins (Paul 2014). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Leu28Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Nov 10, 2024