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NM_007294.4(BRCA1):c.82C>A (p.Leu28Met) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 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:
RCV002554778.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.82C>A (p.Leu28Met)]

NM_007294.4(BRCA1):c.82C>A (p.Leu28Met)

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.82C>A (p.Leu28Met)
HGVS:
  • NC_000017.11:g.43115778G>T
  • NG_005905.2:g.102206C>A
  • NM_001407571.1:c.-107C>A
  • NM_001407581.1:c.82C>A
  • NM_001407582.1:c.82C>A
  • NM_001407583.1:c.82C>A
  • NM_001407585.1:c.82C>A
  • NM_001407587.1:c.82C>A
  • NM_001407590.1:c.82C>A
  • NM_001407591.1:c.82C>A
  • NM_001407593.1:c.82C>A
  • NM_001407594.1:c.82C>A
  • NM_001407596.1:c.82C>A
  • NM_001407597.1:c.82C>A
  • NM_001407598.1:c.82C>A
  • NM_001407602.1:c.82C>A
  • NM_001407603.1:c.82C>A
  • NM_001407605.1:c.82C>A
  • NM_001407610.1:c.82C>A
  • NM_001407611.1:c.82C>A
  • NM_001407612.1:c.82C>A
  • NM_001407613.1:c.82C>A
  • NM_001407614.1:c.82C>A
  • NM_001407615.1:c.82C>A
  • NM_001407616.1:c.82C>A
  • NM_001407617.1:c.82C>A
  • NM_001407618.1:c.82C>A
  • NM_001407619.1:c.82C>A
  • NM_001407620.1:c.82C>A
  • NM_001407621.1:c.82C>A
  • NM_001407622.1:c.82C>A
  • NM_001407623.1:c.82C>A
  • NM_001407624.1:c.82C>A
  • NM_001407625.1:c.82C>A
  • NM_001407626.1:c.82C>A
  • NM_001407627.1:c.82C>A
  • NM_001407628.1:c.82C>A
  • NM_001407629.1:c.82C>A
  • NM_001407630.1:c.82C>A
  • NM_001407631.1:c.82C>A
  • NM_001407632.1:c.82C>A
  • NM_001407633.1:c.82C>A
  • NM_001407634.1:c.82C>A
  • NM_001407635.1:c.82C>A
  • NM_001407636.1:c.82C>A
  • NM_001407637.1:c.82C>A
  • NM_001407638.1:c.82C>A
  • NM_001407639.1:c.82C>A
  • NM_001407640.1:c.82C>A
  • NM_001407641.1:c.82C>A
  • NM_001407642.1:c.82C>A
  • NM_001407644.1:c.82C>A
  • NM_001407645.1:c.82C>A
  • NM_001407646.1:c.82C>A
  • NM_001407647.1:c.82C>A
  • NM_001407648.1:c.82C>A
  • NM_001407649.1:c.82C>A
  • NM_001407652.1:c.82C>A
  • NM_001407653.1:c.82C>A
  • NM_001407654.1:c.82C>A
  • NM_001407655.1:c.82C>A
  • NM_001407656.1:c.82C>A
  • NM_001407657.1:c.82C>A
  • NM_001407658.1:c.82C>A
  • NM_001407659.1:c.82C>A
  • NM_001407660.1:c.82C>A
  • NM_001407661.1:c.82C>A
  • NM_001407662.1:c.82C>A
  • NM_001407663.1:c.82C>A
  • NM_001407664.1:c.82C>A
  • NM_001407665.1:c.82C>A
  • NM_001407666.1:c.82C>A
  • NM_001407667.1:c.82C>A
  • NM_001407668.1:c.82C>A
  • NM_001407669.1:c.82C>A
  • NM_001407670.1:c.82C>A
  • NM_001407671.1:c.82C>A
  • NM_001407672.1:c.82C>A
  • NM_001407673.1:c.82C>A
  • NM_001407674.1:c.82C>A
  • NM_001407675.1:c.82C>A
  • NM_001407676.1:c.82C>A
  • NM_001407677.1:c.82C>A
  • NM_001407678.1:c.82C>A
  • NM_001407679.1:c.82C>A
  • NM_001407680.1:c.82C>A
  • NM_001407681.1:c.82C>A
  • NM_001407682.1:c.82C>A
  • NM_001407683.1:c.82C>A
  • NM_001407684.1:c.82C>A
  • NM_001407685.1:c.82C>A
  • NM_001407686.1:c.82C>A
  • NM_001407687.1:c.82C>A
  • NM_001407688.1:c.82C>A
  • NM_001407689.1:c.82C>A
  • NM_001407690.1:c.82C>A
  • NM_001407691.1:c.82C>A
  • NM_001407694.1:c.-176C>A
  • NM_001407695.1:c.-180C>A
  • NM_001407696.1:c.-176C>A
  • NM_001407697.1:c.-60C>A
  • NM_001407724.1:c.-176C>A
  • NM_001407725.1:c.-60C>A
  • NM_001407727.1:c.-176C>A
  • NM_001407728.1:c.-60C>A
  • NM_001407729.1:c.-60C>A
  • NM_001407730.1:c.-60C>A
  • NM_001407731.1:c.-176C>A
  • NM_001407733.1:c.-176C>A
  • NM_001407734.1:c.-60C>A
  • NM_001407735.1:c.-60C>A
  • NM_001407737.1:c.-60C>A
  • NM_001407739.1:c.-60C>A
  • NM_001407740.1:c.-60C>A
  • NM_001407741.1:c.-60C>A
  • NM_001407743.1:c.-60C>A
  • NM_001407745.1:c.-60C>A
  • NM_001407746.1:c.-176C>A
  • NM_001407748.1:c.-60C>A
  • NM_001407749.1:c.-176C>A
  • NM_001407752.1:c.-60C>A
  • NM_001407838.1:c.-60C>A
  • NM_001407839.1:c.-60C>A
  • NM_001407841.1:c.-56C>A
  • NM_001407842.1:c.-176C>A
  • NM_001407843.1:c.-176C>A
  • NM_001407844.1:c.-60C>A
  • NM_001407846.1:c.-60C>A
  • NM_001407847.1:c.-60C>A
  • NM_001407848.1:c.-60C>A
  • NM_001407850.1:c.-60C>A
  • NM_001407851.1:c.-60C>A
  • NM_001407853.1:c.-107C>A
  • NM_001407854.1:c.82C>A
  • NM_001407858.1:c.82C>A
  • NM_001407859.1:c.82C>A
  • NM_001407860.1:c.82C>A
  • NM_001407861.1:c.82C>A
  • NM_001407862.1:c.82C>A
  • NM_001407863.1:c.82C>A
  • NM_001407874.1:c.82C>A
  • NM_001407875.1:c.82C>A
  • NM_001407879.1:c.-107C>A
  • NM_001407882.1:c.-107C>A
  • NM_001407884.1:c.-107C>A
  • NM_001407885.1:c.-107C>A
  • NM_001407886.1:c.-107C>A
  • NM_001407887.1:c.-107C>A
  • NM_001407889.1:c.-223C>A
  • NM_001407894.1:c.-107C>A
  • NM_001407895.1:c.-107C>A
  • NM_001407896.1:c.-107C>A
  • NM_001407897.1:c.-107C>A
  • NM_001407899.1:c.-107C>A
  • NM_001407900.1:c.-223C>A
  • NM_001407904.1:c.-107C>A
  • NM_001407906.1:c.-107C>A
  • NM_001407907.1:c.-107C>A
  • NM_001407908.1:c.-107C>A
  • NM_001407909.1:c.-107C>A
  • NM_001407910.1:c.-107C>A
  • NM_001407915.1:c.-107C>A
  • NM_001407916.1:c.-107C>A
  • NM_001407917.1:c.-107C>A
  • NM_001407918.1:c.-107C>A
  • NM_001407919.1:c.82C>A
  • NM_001407920.1:c.-60C>A
  • NM_001407921.1:c.-60C>A
  • NM_001407922.1:c.-60C>A
  • NM_001407923.1:c.-60C>A
  • NM_001407926.1:c.-60C>A
  • NM_001407927.1:c.-60C>A
  • NM_001407930.1:c.-176C>A
  • NM_001407933.1:c.-60C>A
  • NM_001407934.1:c.-60C>A
  • NM_001407935.1:c.-60C>A
  • NM_001407937.1:c.82C>A
  • NM_001407938.1:c.82C>A
  • NM_001407939.1:c.82C>A
  • NM_001407940.1:c.82C>A
  • NM_001407941.1:c.82C>A
  • NM_001407942.1:c.-176C>A
  • NM_001407943.1:c.-60C>A
  • NM_001407944.1:c.-60C>A
  • NM_001407946.1:c.-107C>A
  • NM_001407947.1:c.-107C>A
  • NM_001407948.1:c.-107C>A
  • NM_001407949.1:c.-107C>A
  • NM_001407950.1:c.-107C>A
  • NM_001407951.1:c.-107C>A
  • NM_001407952.1:c.-107C>A
  • NM_001407953.1:c.-107C>A
  • NM_001407954.1:c.-107C>A
  • NM_001407955.1:c.-107C>A
  • NM_001407956.1:c.-107C>A
  • NM_001407957.1:c.-107C>A
  • NM_001407958.1:c.-107C>A
  • NM_001407960.1:c.-222C>A
  • NM_001407962.1:c.-222C>A
  • NM_001407964.1:c.-60C>A
  • NM_001407965.1:c.-338C>A
  • NM_001407968.1:c.82C>A
  • NM_001407969.1:c.82C>A
  • NM_001407970.1:c.82C>A
  • NM_001407971.1:c.82C>A
  • NM_001407972.1:c.82C>A
  • NM_001407973.1:c.82C>A
  • NM_001407974.1:c.82C>A
  • NM_001407975.1:c.82C>A
  • NM_001407976.1:c.82C>A
  • NM_001407977.1:c.82C>A
  • NM_001407978.1:c.82C>A
  • NM_001407979.1:c.82C>A
  • NM_001407980.1:c.82C>A
  • NM_001407981.1:c.82C>A
  • NM_001407982.1:c.82C>A
  • NM_001407983.1:c.82C>A
  • NM_001407984.1:c.82C>A
  • NM_001407985.1:c.82C>A
  • NM_001407986.1:c.82C>A
  • NM_001407990.1:c.82C>A
  • NM_001407991.1:c.82C>A
  • NM_001407992.1:c.82C>A
  • NM_001407993.1:c.82C>A
  • NM_001408392.1:c.82C>A
  • NM_001408396.1:c.82C>A
  • NM_001408397.1:c.82C>A
  • NM_001408398.1:c.82C>A
  • NM_001408399.1:c.82C>A
  • NM_001408400.1:c.82C>A
  • NM_001408401.1:c.82C>A
  • NM_001408402.1:c.82C>A
  • NM_001408403.1:c.82C>A
  • NM_001408404.1:c.82C>A
  • NM_001408406.1:c.82C>A
  • NM_001408407.1:c.82C>A
  • NM_001408408.1:c.82C>A
  • NM_001408409.1:c.82C>A
  • NM_001408410.1:c.-60C>A
  • NM_001408411.1:c.82C>A
  • NM_001408412.1:c.82C>A
  • NM_001408413.1:c.82C>A
  • NM_001408414.1:c.82C>A
  • NM_001408415.1:c.82C>A
  • NM_001408416.1:c.82C>A
  • NM_001408418.1:c.82C>A
  • NM_001408419.1:c.82C>A
  • NM_001408420.1:c.82C>A
  • NM_001408421.1:c.82C>A
  • NM_001408422.1:c.82C>A
  • NM_001408423.1:c.82C>A
  • NM_001408424.1:c.82C>A
  • NM_001408425.1:c.82C>A
  • NM_001408426.1:c.82C>A
  • NM_001408427.1:c.82C>A
  • NM_001408428.1:c.82C>A
  • NM_001408429.1:c.82C>A
  • NM_001408430.1:c.82C>A
  • NM_001408431.1:c.82C>A
  • NM_001408432.1:c.82C>A
  • NM_001408433.1:c.82C>A
  • NM_001408434.1:c.82C>A
  • NM_001408435.1:c.82C>A
  • NM_001408436.1:c.82C>A
  • NM_001408437.1:c.82C>A
  • NM_001408438.1:c.82C>A
  • NM_001408439.1:c.82C>A
  • NM_001408440.1:c.82C>A
  • NM_001408441.1:c.82C>A
  • NM_001408442.1:c.82C>A
  • NM_001408443.1:c.82C>A
  • NM_001408444.1:c.82C>A
  • NM_001408445.1:c.82C>A
  • NM_001408446.1:c.82C>A
  • NM_001408447.1:c.82C>A
  • NM_001408448.1:c.82C>A
  • NM_001408450.1:c.82C>A
  • NM_001408452.1:c.-60C>A
  • NM_001408453.1:c.-60C>A
  • NM_001408455.1:c.-176C>A
  • NM_001408456.1:c.-176C>A
  • NM_001408458.1:c.-60C>A
  • NM_001408462.1:c.-60C>A
  • NM_001408463.1:c.-60C>A
  • NM_001408465.1:c.-180C>A
  • NM_001408466.1:c.-60C>A
  • NM_001408468.1:c.-176C>A
  • NM_001408469.1:c.-60C>A
  • NM_001408470.1:c.-60C>A
  • NM_001408472.1:c.82C>A
  • NM_001408473.1:c.82C>A
  • NM_001408474.1:c.82C>A
  • NM_001408475.1:c.82C>A
  • NM_001408476.1:c.82C>A
  • NM_001408478.1:c.-107C>A
  • NM_001408479.1:c.-107C>A
  • NM_001408480.1:c.-107C>A
  • NM_001408481.1:c.-107C>A
  • NM_001408482.1:c.-107C>A
  • NM_001408483.1:c.-107C>A
  • NM_001408484.1:c.-107C>A
  • NM_001408485.1:c.-107C>A
  • NM_001408489.1:c.-107C>A
  • NM_001408490.1:c.-107C>A
  • NM_001408491.1:c.-107C>A
  • NM_001408492.1:c.-223C>A
  • NM_001408493.1:c.-107C>A
  • NM_001408494.1:c.82C>A
  • NM_001408495.1:c.82C>A
  • NM_001408497.1:c.-60C>A
  • NM_001408499.1:c.-60C>A
  • NM_001408500.1:c.-60C>A
  • NM_001408501.1:c.-176C>A
  • NM_001408502.1:c.-107C>A
  • NM_001408503.1:c.-60C>A
  • NM_001408504.1:c.-60C>A
  • NM_001408505.1:c.-60C>A
  • NM_001408506.1:c.-107C>A
  • NM_001408507.1:c.-107C>A
  • NM_001408508.1:c.-107C>A
  • NM_001408509.1:c.-107C>A
  • NM_001408510.1:c.-222C>A
  • NM_001408512.1:c.-222C>A
  • NM_001408513.1:c.-107C>A
  • NM_001408514.1:c.-107C>A
  • NM_007294.4:c.82C>AMANE SELECT
  • NM_007297.4:c.-8+8239C>A
  • NM_007298.4:c.82C>A
  • NM_007299.4:c.82C>A
  • NM_007300.4:c.82C>A
  • NM_007304.2:c.82C>A
  • NP_001394510.1:p.Leu28Met
  • NP_001394511.1:p.Leu28Met
  • NP_001394512.1:p.Leu28Met
  • NP_001394514.1:p.Leu28Met
  • NP_001394516.1:p.Leu28Met
  • NP_001394519.1:p.Leu28Met
  • NP_001394520.1:p.Leu28Met
  • NP_001394522.1:p.Leu28Met
  • NP_001394523.1:p.Leu28Met
  • NP_001394525.1:p.Leu28Met
  • NP_001394526.1:p.Leu28Met
  • NP_001394527.1:p.Leu28Met
  • NP_001394531.1:p.Leu28Met
  • NP_001394532.1:p.Leu28Met
  • NP_001394534.1:p.Leu28Met
  • NP_001394539.1:p.Leu28Met
  • NP_001394540.1:p.Leu28Met
  • NP_001394541.1:p.Leu28Met
  • NP_001394542.1:p.Leu28Met
  • NP_001394543.1:p.Leu28Met
  • NP_001394544.1:p.Leu28Met
  • NP_001394545.1:p.Leu28Met
  • NP_001394546.1:p.Leu28Met
  • NP_001394547.1:p.Leu28Met
  • NP_001394548.1:p.Leu28Met
  • NP_001394549.1:p.Leu28Met
  • NP_001394550.1:p.Leu28Met
  • NP_001394551.1:p.Leu28Met
  • NP_001394552.1:p.Leu28Met
  • NP_001394553.1:p.Leu28Met
  • NP_001394554.1:p.Leu28Met
  • NP_001394555.1:p.Leu28Met
  • NP_001394556.1:p.Leu28Met
  • NP_001394557.1:p.Leu28Met
  • NP_001394558.1:p.Leu28Met
  • NP_001394559.1:p.Leu28Met
  • NP_001394560.1:p.Leu28Met
  • NP_001394561.1:p.Leu28Met
  • NP_001394562.1:p.Leu28Met
  • NP_001394563.1:p.Leu28Met
  • NP_001394564.1:p.Leu28Met
  • NP_001394565.1:p.Leu28Met
  • NP_001394566.1:p.Leu28Met
  • NP_001394567.1:p.Leu28Met
  • NP_001394568.1:p.Leu28Met
  • NP_001394569.1:p.Leu28Met
  • NP_001394570.1:p.Leu28Met
  • NP_001394571.1:p.Leu28Met
  • NP_001394573.1:p.Leu28Met
  • NP_001394574.1:p.Leu28Met
  • NP_001394575.1:p.Leu28Met
  • NP_001394576.1:p.Leu28Met
  • NP_001394577.1:p.Leu28Met
  • NP_001394578.1:p.Leu28Met
  • NP_001394581.1:p.Leu28Met
  • NP_001394582.1:p.Leu28Met
  • NP_001394583.1:p.Leu28Met
  • NP_001394584.1:p.Leu28Met
  • NP_001394585.1:p.Leu28Met
  • NP_001394586.1:p.Leu28Met
  • NP_001394587.1:p.Leu28Met
  • NP_001394588.1:p.Leu28Met
  • NP_001394589.1:p.Leu28Met
  • NP_001394590.1:p.Leu28Met
  • NP_001394591.1:p.Leu28Met
  • NP_001394592.1:p.Leu28Met
  • NP_001394593.1:p.Leu28Met
  • NP_001394594.1:p.Leu28Met
  • NP_001394595.1:p.Leu28Met
  • NP_001394596.1:p.Leu28Met
  • NP_001394597.1:p.Leu28Met
  • NP_001394598.1:p.Leu28Met
  • NP_001394599.1:p.Leu28Met
  • NP_001394600.1:p.Leu28Met
  • NP_001394601.1:p.Leu28Met
  • NP_001394602.1:p.Leu28Met
  • NP_001394603.1:p.Leu28Met
  • NP_001394604.1:p.Leu28Met
  • NP_001394605.1:p.Leu28Met
  • NP_001394606.1:p.Leu28Met
  • NP_001394607.1:p.Leu28Met
  • NP_001394608.1:p.Leu28Met
  • NP_001394609.1:p.Leu28Met
  • NP_001394610.1:p.Leu28Met
  • NP_001394611.1:p.Leu28Met
  • NP_001394612.1:p.Leu28Met
  • NP_001394613.1:p.Leu28Met
  • NP_001394614.1:p.Leu28Met
  • NP_001394615.1:p.Leu28Met
  • NP_001394616.1:p.Leu28Met
  • NP_001394617.1:p.Leu28Met
  • NP_001394618.1:p.Leu28Met
  • NP_001394619.1:p.Leu28Met
  • NP_001394620.1:p.Leu28Met
  • NP_001394783.1:p.Leu28Met
  • NP_001394787.1:p.Leu28Met
  • NP_001394788.1:p.Leu28Met
  • NP_001394789.1:p.Leu28Met
  • NP_001394790.1:p.Leu28Met
  • NP_001394791.1:p.Leu28Met
  • NP_001394792.1:p.Leu28Met
  • NP_001394803.1:p.Leu28Met
  • NP_001394804.1:p.Leu28Met
  • NP_001394848.1:p.Leu28Met
  • NP_001394866.1:p.Leu28Met
  • NP_001394867.1:p.Leu28Met
  • NP_001394868.1:p.Leu28Met
  • NP_001394869.1:p.Leu28Met
  • NP_001394870.1:p.Leu28Met
  • NP_001394897.1:p.Leu28Met
  • NP_001394898.1:p.Leu28Met
  • NP_001394899.1:p.Leu28Met
  • NP_001394900.1:p.Leu28Met
  • NP_001394901.1:p.Leu28Met
  • NP_001394902.1:p.Leu28Met
  • NP_001394903.1:p.Leu28Met
  • NP_001394904.1:p.Leu28Met
  • NP_001394905.1:p.Leu28Met
  • NP_001394906.1:p.Leu28Met
  • NP_001394907.1:p.Leu28Met
  • NP_001394908.1:p.Leu28Met
  • NP_001394909.1:p.Leu28Met
  • NP_001394910.1:p.Leu28Met
  • NP_001394911.1:p.Leu28Met
  • NP_001394912.1:p.Leu28Met
  • NP_001394913.1:p.Leu28Met
  • NP_001394914.1:p.Leu28Met
  • NP_001394915.1:p.Leu28Met
  • NP_001394919.1:p.Leu28Met
  • NP_001394920.1:p.Leu28Met
  • NP_001394921.1:p.Leu28Met
  • NP_001394922.1:p.Leu28Met
  • NP_001395321.1:p.Leu28Met
  • NP_001395325.1:p.Leu28Met
  • NP_001395326.1:p.Leu28Met
  • NP_001395327.1:p.Leu28Met
  • NP_001395328.1:p.Leu28Met
  • NP_001395329.1:p.Leu28Met
  • NP_001395330.1:p.Leu28Met
  • NP_001395331.1:p.Leu28Met
  • NP_001395332.1:p.Leu28Met
  • NP_001395333.1:p.Leu28Met
  • NP_001395335.1:p.Leu28Met
  • NP_001395336.1:p.Leu28Met
  • NP_001395337.1:p.Leu28Met
  • NP_001395338.1:p.Leu28Met
  • NP_001395340.1:p.Leu28Met
  • NP_001395341.1:p.Leu28Met
  • NP_001395342.1:p.Leu28Met
  • NP_001395343.1:p.Leu28Met
  • NP_001395344.1:p.Leu28Met
  • NP_001395345.1:p.Leu28Met
  • NP_001395347.1:p.Leu28Met
  • NP_001395348.1:p.Leu28Met
  • NP_001395349.1:p.Leu28Met
  • NP_001395350.1:p.Leu28Met
  • NP_001395351.1:p.Leu28Met
  • NP_001395352.1:p.Leu28Met
  • NP_001395353.1:p.Leu28Met
  • NP_001395354.1:p.Leu28Met
  • NP_001395355.1:p.Leu28Met
  • NP_001395356.1:p.Leu28Met
  • NP_001395357.1:p.Leu28Met
  • NP_001395358.1:p.Leu28Met
  • NP_001395359.1:p.Leu28Met
  • NP_001395360.1:p.Leu28Met
  • NP_001395361.1:p.Leu28Met
  • NP_001395362.1:p.Leu28Met
  • NP_001395363.1:p.Leu28Met
  • NP_001395364.1:p.Leu28Met
  • NP_001395365.1:p.Leu28Met
  • NP_001395366.1:p.Leu28Met
  • NP_001395367.1:p.Leu28Met
  • NP_001395368.1:p.Leu28Met
  • NP_001395369.1:p.Leu28Met
  • NP_001395370.1:p.Leu28Met
  • NP_001395371.1:p.Leu28Met
  • NP_001395372.1:p.Leu28Met
  • NP_001395373.1:p.Leu28Met
  • NP_001395374.1:p.Leu28Met
  • NP_001395375.1:p.Leu28Met
  • NP_001395376.1:p.Leu28Met
  • NP_001395377.1:p.Leu28Met
  • NP_001395379.1:p.Leu28Met
  • NP_001395401.1:p.Leu28Met
  • NP_001395402.1:p.Leu28Met
  • NP_001395403.1:p.Leu28Met
  • NP_001395404.1:p.Leu28Met
  • NP_001395405.1:p.Leu28Met
  • NP_001395423.1:p.Leu28Met
  • NP_001395424.1:p.Leu28Met
  • NP_009225.1:p.Leu28Met
  • NP_009225.1:p.Leu28Met
  • NP_009229.2:p.Leu28Met
  • NP_009229.2:p.Leu28Met
  • NP_009230.2:p.Leu28Met
  • NP_009231.2:p.Leu28Met
  • NP_009235.2:p.Leu28Met
  • LRG_292t1:c.82C>A
  • LRG_292:g.102206C>A
  • LRG_292p1:p.Leu28Met
  • NC_000017.10:g.41267795G>T
  • NC_000017.10:g.41267795G>T
  • NM_007294.3:c.82C>A
  • NM_007298.3:c.82C>A
  • NR_027676.2:n.284C>A
Protein change:
L28M
Links:
dbSNP: rs1219301058
NCBI 1000 Genomes Browser:
rs1219301058
Molecular consequence:
  • NM_007297.4:c.-8+8239C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.82C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.284C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003323526Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 6, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S.

Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30. Erratum in: Genetics. 2017 Dec;207(4):1713. doi: 10.1534/genetics.117.300355.

PubMed [citation]
PMID:
25823446
PMCID:
PMC4492368

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003323526.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 28 of the BRCA1 protein (p.Leu28Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 867464). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 25823446, 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024