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NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 3, 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:
RCV001800475.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln)]

NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln)

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.133A>C (p.Lys45Gln)
HGVS:
  • NC_000017.11:g.43115727T>G
  • NG_005905.2:g.102257A>C
  • NM_001407571.1:c.-56A>C
  • NM_001407581.1:c.133A>C
  • NM_001407582.1:c.133A>C
  • NM_001407583.1:c.133A>C
  • NM_001407585.1:c.133A>C
  • NM_001407587.1:c.133A>C
  • NM_001407590.1:c.133A>C
  • NM_001407591.1:c.133A>C
  • NM_001407593.1:c.133A>C
  • NM_001407594.1:c.133A>C
  • NM_001407596.1:c.133A>C
  • NM_001407597.1:c.133A>C
  • NM_001407598.1:c.133A>C
  • NM_001407602.1:c.133A>C
  • NM_001407603.1:c.133A>C
  • NM_001407605.1:c.133A>C
  • NM_001407610.1:c.133A>C
  • NM_001407611.1:c.133A>C
  • NM_001407612.1:c.133A>C
  • NM_001407613.1:c.133A>C
  • NM_001407614.1:c.133A>C
  • NM_001407615.1:c.133A>C
  • NM_001407616.1:c.133A>C
  • NM_001407617.1:c.133A>C
  • NM_001407618.1:c.133A>C
  • NM_001407619.1:c.133A>C
  • NM_001407620.1:c.133A>C
  • NM_001407621.1:c.133A>C
  • NM_001407622.1:c.133A>C
  • NM_001407623.1:c.133A>C
  • NM_001407624.1:c.133A>C
  • NM_001407625.1:c.133A>C
  • NM_001407626.1:c.133A>C
  • NM_001407627.1:c.133A>C
  • NM_001407628.1:c.133A>C
  • NM_001407629.1:c.133A>C
  • NM_001407630.1:c.133A>C
  • NM_001407631.1:c.133A>C
  • NM_001407632.1:c.133A>C
  • NM_001407633.1:c.133A>C
  • NM_001407634.1:c.133A>C
  • NM_001407635.1:c.133A>C
  • NM_001407636.1:c.133A>C
  • NM_001407637.1:c.133A>C
  • NM_001407638.1:c.133A>C
  • NM_001407639.1:c.133A>C
  • NM_001407640.1:c.133A>C
  • NM_001407641.1:c.133A>C
  • NM_001407642.1:c.133A>C
  • NM_001407644.1:c.133A>C
  • NM_001407645.1:c.133A>C
  • NM_001407646.1:c.133A>C
  • NM_001407647.1:c.133A>C
  • NM_001407648.1:c.133A>C
  • NM_001407649.1:c.133A>C
  • NM_001407652.1:c.133A>C
  • NM_001407653.1:c.133A>C
  • NM_001407654.1:c.133A>C
  • NM_001407655.1:c.133A>C
  • NM_001407656.1:c.133A>C
  • NM_001407657.1:c.133A>C
  • NM_001407658.1:c.133A>C
  • NM_001407659.1:c.133A>C
  • NM_001407660.1:c.133A>C
  • NM_001407661.1:c.133A>C
  • NM_001407662.1:c.133A>C
  • NM_001407663.1:c.133A>C
  • NM_001407664.1:c.133A>C
  • NM_001407665.1:c.133A>C
  • NM_001407666.1:c.133A>C
  • NM_001407667.1:c.133A>C
  • NM_001407668.1:c.133A>C
  • NM_001407669.1:c.133A>C
  • NM_001407670.1:c.133A>C
  • NM_001407671.1:c.133A>C
  • NM_001407672.1:c.133A>C
  • NM_001407673.1:c.133A>C
  • NM_001407674.1:c.133A>C
  • NM_001407675.1:c.133A>C
  • NM_001407676.1:c.133A>C
  • NM_001407677.1:c.133A>C
  • NM_001407678.1:c.133A>C
  • NM_001407679.1:c.133A>C
  • NM_001407680.1:c.133A>C
  • NM_001407681.1:c.133A>C
  • NM_001407682.1:c.133A>C
  • NM_001407683.1:c.133A>C
  • NM_001407684.1:c.133A>C
  • NM_001407685.1:c.133A>C
  • NM_001407686.1:c.133A>C
  • NM_001407687.1:c.133A>C
  • NM_001407688.1:c.133A>C
  • NM_001407689.1:c.133A>C
  • NM_001407690.1:c.133A>C
  • NM_001407691.1:c.133A>C
  • NM_001407694.1:c.-125A>C
  • NM_001407695.1:c.-129A>C
  • NM_001407696.1:c.-125A>C
  • NM_001407697.1:c.-9A>C
  • NM_001407724.1:c.-125A>C
  • NM_001407725.1:c.-9A>C
  • NM_001407727.1:c.-125A>C
  • NM_001407728.1:c.-9A>C
  • NM_001407729.1:c.-9A>C
  • NM_001407730.1:c.-9A>C
  • NM_001407731.1:c.-125A>C
  • NM_001407733.1:c.-125A>C
  • NM_001407734.1:c.-9A>C
  • NM_001407735.1:c.-9A>C
  • NM_001407737.1:c.-9A>C
  • NM_001407739.1:c.-9A>C
  • NM_001407740.1:c.-9A>C
  • NM_001407741.1:c.-9A>C
  • NM_001407743.1:c.-9A>C
  • NM_001407745.1:c.-9A>C
  • NM_001407746.1:c.-125A>C
  • NM_001407748.1:c.-9A>C
  • NM_001407749.1:c.-125A>C
  • NM_001407752.1:c.-9A>C
  • NM_001407838.1:c.-9A>C
  • NM_001407839.1:c.-9A>C
  • NM_001407842.1:c.-125A>C
  • NM_001407843.1:c.-125A>C
  • NM_001407844.1:c.-9A>C
  • NM_001407846.1:c.-9A>C
  • NM_001407847.1:c.-9A>C
  • NM_001407848.1:c.-9A>C
  • NM_001407850.1:c.-9A>C
  • NM_001407851.1:c.-9A>C
  • NM_001407853.1:c.-56A>C
  • NM_001407854.1:c.133A>C
  • NM_001407858.1:c.133A>C
  • NM_001407859.1:c.133A>C
  • NM_001407860.1:c.133A>C
  • NM_001407861.1:c.133A>C
  • NM_001407862.1:c.133A>C
  • NM_001407863.1:c.133A>C
  • NM_001407874.1:c.133A>C
  • NM_001407875.1:c.133A>C
  • NM_001407879.1:c.-56A>C
  • NM_001407882.1:c.-56A>C
  • NM_001407884.1:c.-56A>C
  • NM_001407885.1:c.-56A>C
  • NM_001407886.1:c.-56A>C
  • NM_001407887.1:c.-56A>C
  • NM_001407889.1:c.-172A>C
  • NM_001407894.1:c.-56A>C
  • NM_001407895.1:c.-56A>C
  • NM_001407896.1:c.-56A>C
  • NM_001407897.1:c.-56A>C
  • NM_001407899.1:c.-56A>C
  • NM_001407900.1:c.-172A>C
  • NM_001407904.1:c.-56A>C
  • NM_001407906.1:c.-56A>C
  • NM_001407907.1:c.-56A>C
  • NM_001407908.1:c.-56A>C
  • NM_001407909.1:c.-56A>C
  • NM_001407910.1:c.-56A>C
  • NM_001407915.1:c.-56A>C
  • NM_001407916.1:c.-56A>C
  • NM_001407917.1:c.-56A>C
  • NM_001407918.1:c.-56A>C
  • NM_001407919.1:c.133A>C
  • NM_001407920.1:c.-9A>C
  • NM_001407921.1:c.-9A>C
  • NM_001407922.1:c.-9A>C
  • NM_001407923.1:c.-9A>C
  • NM_001407926.1:c.-9A>C
  • NM_001407927.1:c.-9A>C
  • NM_001407930.1:c.-125A>C
  • NM_001407933.1:c.-9A>C
  • NM_001407934.1:c.-9A>C
  • NM_001407935.1:c.-9A>C
  • NM_001407937.1:c.133A>C
  • NM_001407938.1:c.133A>C
  • NM_001407939.1:c.133A>C
  • NM_001407940.1:c.133A>C
  • NM_001407941.1:c.133A>C
  • NM_001407942.1:c.-125A>C
  • NM_001407943.1:c.-9A>C
  • NM_001407944.1:c.-9A>C
  • NM_001407946.1:c.-56A>C
  • NM_001407947.1:c.-56A>C
  • NM_001407948.1:c.-56A>C
  • NM_001407949.1:c.-56A>C
  • NM_001407950.1:c.-56A>C
  • NM_001407951.1:c.-56A>C
  • NM_001407952.1:c.-56A>C
  • NM_001407953.1:c.-56A>C
  • NM_001407954.1:c.-56A>C
  • NM_001407955.1:c.-56A>C
  • NM_001407956.1:c.-56A>C
  • NM_001407957.1:c.-56A>C
  • NM_001407958.1:c.-56A>C
  • NM_001407960.1:c.-171A>C
  • NM_001407962.1:c.-171A>C
  • NM_001407964.1:c.-9A>C
  • NM_001407965.1:c.-287A>C
  • NM_001407968.1:c.133A>C
  • NM_001407969.1:c.133A>C
  • NM_001407970.1:c.133A>C
  • NM_001407971.1:c.133A>C
  • NM_001407972.1:c.133A>C
  • NM_001407973.1:c.133A>C
  • NM_001407974.1:c.133A>C
  • NM_001407975.1:c.133A>C
  • NM_001407976.1:c.133A>C
  • NM_001407977.1:c.133A>C
  • NM_001407978.1:c.133A>C
  • NM_001407979.1:c.133A>C
  • NM_001407980.1:c.133A>C
  • NM_001407981.1:c.133A>C
  • NM_001407982.1:c.133A>C
  • NM_001407983.1:c.133A>C
  • NM_001407984.1:c.133A>C
  • NM_001407985.1:c.133A>C
  • NM_001407986.1:c.133A>C
  • NM_001407990.1:c.133A>C
  • NM_001407991.1:c.133A>C
  • NM_001407992.1:c.133A>C
  • NM_001407993.1:c.133A>C
  • NM_001408392.1:c.133A>C
  • NM_001408396.1:c.133A>C
  • NM_001408397.1:c.133A>C
  • NM_001408398.1:c.133A>C
  • NM_001408399.1:c.133A>C
  • NM_001408400.1:c.133A>C
  • NM_001408401.1:c.133A>C
  • NM_001408402.1:c.133A>C
  • NM_001408403.1:c.133A>C
  • NM_001408404.1:c.133A>C
  • NM_001408406.1:c.133A>C
  • NM_001408407.1:c.133A>C
  • NM_001408408.1:c.133A>C
  • NM_001408409.1:c.133A>C
  • NM_001408410.1:c.-9A>C
  • NM_001408411.1:c.133A>C
  • NM_001408412.1:c.133A>C
  • NM_001408413.1:c.133A>C
  • NM_001408414.1:c.133A>C
  • NM_001408415.1:c.133A>C
  • NM_001408416.1:c.133A>C
  • NM_001408418.1:c.133A>C
  • NM_001408419.1:c.133A>C
  • NM_001408420.1:c.133A>C
  • NM_001408421.1:c.133A>C
  • NM_001408422.1:c.133A>C
  • NM_001408423.1:c.133A>C
  • NM_001408424.1:c.133A>C
  • NM_001408425.1:c.133A>C
  • NM_001408426.1:c.133A>C
  • NM_001408427.1:c.133A>C
  • NM_001408428.1:c.133A>C
  • NM_001408429.1:c.133A>C
  • NM_001408430.1:c.133A>C
  • NM_001408431.1:c.133A>C
  • NM_001408432.1:c.133A>C
  • NM_001408433.1:c.133A>C
  • NM_001408434.1:c.133A>C
  • NM_001408435.1:c.133A>C
  • NM_001408436.1:c.133A>C
  • NM_001408437.1:c.133A>C
  • NM_001408438.1:c.133A>C
  • NM_001408439.1:c.133A>C
  • NM_001408440.1:c.133A>C
  • NM_001408441.1:c.133A>C
  • NM_001408442.1:c.133A>C
  • NM_001408443.1:c.133A>C
  • NM_001408444.1:c.133A>C
  • NM_001408445.1:c.133A>C
  • NM_001408446.1:c.133A>C
  • NM_001408447.1:c.133A>C
  • NM_001408448.1:c.133A>C
  • NM_001408450.1:c.133A>C
  • NM_001408452.1:c.-9A>C
  • NM_001408453.1:c.-9A>C
  • NM_001408455.1:c.-125A>C
  • NM_001408456.1:c.-125A>C
  • NM_001408458.1:c.-9A>C
  • NM_001408462.1:c.-9A>C
  • NM_001408463.1:c.-9A>C
  • NM_001408465.1:c.-129A>C
  • NM_001408466.1:c.-9A>C
  • NM_001408468.1:c.-125A>C
  • NM_001408469.1:c.-9A>C
  • NM_001408470.1:c.-9A>C
  • NM_001408472.1:c.133A>C
  • NM_001408473.1:c.133A>C
  • NM_001408474.1:c.133A>C
  • NM_001408475.1:c.133A>C
  • NM_001408476.1:c.133A>C
  • NM_001408478.1:c.-56A>C
  • NM_001408479.1:c.-56A>C
  • NM_001408480.1:c.-56A>C
  • NM_001408481.1:c.-56A>C
  • NM_001408482.1:c.-56A>C
  • NM_001408483.1:c.-56A>C
  • NM_001408484.1:c.-56A>C
  • NM_001408485.1:c.-56A>C
  • NM_001408489.1:c.-56A>C
  • NM_001408490.1:c.-56A>C
  • NM_001408491.1:c.-56A>C
  • NM_001408492.1:c.-172A>C
  • NM_001408493.1:c.-56A>C
  • NM_001408494.1:c.133A>C
  • NM_001408495.1:c.133A>C
  • NM_001408497.1:c.-9A>C
  • NM_001408499.1:c.-9A>C
  • NM_001408500.1:c.-9A>C
  • NM_001408501.1:c.-125A>C
  • NM_001408502.1:c.-56A>C
  • NM_001408503.1:c.-9A>C
  • NM_001408504.1:c.-9A>C
  • NM_001408505.1:c.-9A>C
  • NM_001408506.1:c.-56A>C
  • NM_001408507.1:c.-56A>C
  • NM_001408508.1:c.-56A>C
  • NM_001408509.1:c.-56A>C
  • NM_001408510.1:c.-171A>C
  • NM_001408512.1:c.-171A>C
  • NM_001408513.1:c.-56A>C
  • NM_001408514.1:c.-56A>C
  • NM_007294.4:c.133A>CMANE SELECT
  • NM_007297.4:c.-8+8290A>C
  • NM_007298.4:c.133A>C
  • NM_007299.4:c.133A>C
  • NM_007300.4:c.133A>C
  • NM_007304.2:c.133A>C
  • NP_001394510.1:p.Lys45Gln
  • NP_001394511.1:p.Lys45Gln
  • NP_001394512.1:p.Lys45Gln
  • NP_001394514.1:p.Lys45Gln
  • NP_001394516.1:p.Lys45Gln
  • NP_001394519.1:p.Lys45Gln
  • NP_001394520.1:p.Lys45Gln
  • NP_001394522.1:p.Lys45Gln
  • NP_001394523.1:p.Lys45Gln
  • NP_001394525.1:p.Lys45Gln
  • NP_001394526.1:p.Lys45Gln
  • NP_001394527.1:p.Lys45Gln
  • NP_001394531.1:p.Lys45Gln
  • NP_001394532.1:p.Lys45Gln
  • NP_001394534.1:p.Lys45Gln
  • NP_001394539.1:p.Lys45Gln
  • NP_001394540.1:p.Lys45Gln
  • NP_001394541.1:p.Lys45Gln
  • NP_001394542.1:p.Lys45Gln
  • NP_001394543.1:p.Lys45Gln
  • NP_001394544.1:p.Lys45Gln
  • NP_001394545.1:p.Lys45Gln
  • NP_001394546.1:p.Lys45Gln
  • NP_001394547.1:p.Lys45Gln
  • NP_001394548.1:p.Lys45Gln
  • NP_001394549.1:p.Lys45Gln
  • NP_001394550.1:p.Lys45Gln
  • NP_001394551.1:p.Lys45Gln
  • NP_001394552.1:p.Lys45Gln
  • NP_001394553.1:p.Lys45Gln
  • NP_001394554.1:p.Lys45Gln
  • NP_001394555.1:p.Lys45Gln
  • NP_001394556.1:p.Lys45Gln
  • NP_001394557.1:p.Lys45Gln
  • NP_001394558.1:p.Lys45Gln
  • NP_001394559.1:p.Lys45Gln
  • NP_001394560.1:p.Lys45Gln
  • NP_001394561.1:p.Lys45Gln
  • NP_001394562.1:p.Lys45Gln
  • NP_001394563.1:p.Lys45Gln
  • NP_001394564.1:p.Lys45Gln
  • NP_001394565.1:p.Lys45Gln
  • NP_001394566.1:p.Lys45Gln
  • NP_001394567.1:p.Lys45Gln
  • NP_001394568.1:p.Lys45Gln
  • NP_001394569.1:p.Lys45Gln
  • NP_001394570.1:p.Lys45Gln
  • NP_001394571.1:p.Lys45Gln
  • NP_001394573.1:p.Lys45Gln
  • NP_001394574.1:p.Lys45Gln
  • NP_001394575.1:p.Lys45Gln
  • NP_001394576.1:p.Lys45Gln
  • NP_001394577.1:p.Lys45Gln
  • NP_001394578.1:p.Lys45Gln
  • NP_001394581.1:p.Lys45Gln
  • NP_001394582.1:p.Lys45Gln
  • NP_001394583.1:p.Lys45Gln
  • NP_001394584.1:p.Lys45Gln
  • NP_001394585.1:p.Lys45Gln
  • NP_001394586.1:p.Lys45Gln
  • NP_001394587.1:p.Lys45Gln
  • NP_001394588.1:p.Lys45Gln
  • NP_001394589.1:p.Lys45Gln
  • NP_001394590.1:p.Lys45Gln
  • NP_001394591.1:p.Lys45Gln
  • NP_001394592.1:p.Lys45Gln
  • NP_001394593.1:p.Lys45Gln
  • NP_001394594.1:p.Lys45Gln
  • NP_001394595.1:p.Lys45Gln
  • NP_001394596.1:p.Lys45Gln
  • NP_001394597.1:p.Lys45Gln
  • NP_001394598.1:p.Lys45Gln
  • NP_001394599.1:p.Lys45Gln
  • NP_001394600.1:p.Lys45Gln
  • NP_001394601.1:p.Lys45Gln
  • NP_001394602.1:p.Lys45Gln
  • NP_001394603.1:p.Lys45Gln
  • NP_001394604.1:p.Lys45Gln
  • NP_001394605.1:p.Lys45Gln
  • NP_001394606.1:p.Lys45Gln
  • NP_001394607.1:p.Lys45Gln
  • NP_001394608.1:p.Lys45Gln
  • NP_001394609.1:p.Lys45Gln
  • NP_001394610.1:p.Lys45Gln
  • NP_001394611.1:p.Lys45Gln
  • NP_001394612.1:p.Lys45Gln
  • NP_001394613.1:p.Lys45Gln
  • NP_001394614.1:p.Lys45Gln
  • NP_001394615.1:p.Lys45Gln
  • NP_001394616.1:p.Lys45Gln
  • NP_001394617.1:p.Lys45Gln
  • NP_001394618.1:p.Lys45Gln
  • NP_001394619.1:p.Lys45Gln
  • NP_001394620.1:p.Lys45Gln
  • NP_001394783.1:p.Lys45Gln
  • NP_001394787.1:p.Lys45Gln
  • NP_001394788.1:p.Lys45Gln
  • NP_001394789.1:p.Lys45Gln
  • NP_001394790.1:p.Lys45Gln
  • NP_001394791.1:p.Lys45Gln
  • NP_001394792.1:p.Lys45Gln
  • NP_001394803.1:p.Lys45Gln
  • NP_001394804.1:p.Lys45Gln
  • NP_001394848.1:p.Lys45Gln
  • NP_001394866.1:p.Lys45Gln
  • NP_001394867.1:p.Lys45Gln
  • NP_001394868.1:p.Lys45Gln
  • NP_001394869.1:p.Lys45Gln
  • NP_001394870.1:p.Lys45Gln
  • NP_001394897.1:p.Lys45Gln
  • NP_001394898.1:p.Lys45Gln
  • NP_001394899.1:p.Lys45Gln
  • NP_001394900.1:p.Lys45Gln
  • NP_001394901.1:p.Lys45Gln
  • NP_001394902.1:p.Lys45Gln
  • NP_001394903.1:p.Lys45Gln
  • NP_001394904.1:p.Lys45Gln
  • NP_001394905.1:p.Lys45Gln
  • NP_001394906.1:p.Lys45Gln
  • NP_001394907.1:p.Lys45Gln
  • NP_001394908.1:p.Lys45Gln
  • NP_001394909.1:p.Lys45Gln
  • NP_001394910.1:p.Lys45Gln
  • NP_001394911.1:p.Lys45Gln
  • NP_001394912.1:p.Lys45Gln
  • NP_001394913.1:p.Lys45Gln
  • NP_001394914.1:p.Lys45Gln
  • NP_001394915.1:p.Lys45Gln
  • NP_001394919.1:p.Lys45Gln
  • NP_001394920.1:p.Lys45Gln
  • NP_001394921.1:p.Lys45Gln
  • NP_001394922.1:p.Lys45Gln
  • NP_001395321.1:p.Lys45Gln
  • NP_001395325.1:p.Lys45Gln
  • NP_001395326.1:p.Lys45Gln
  • NP_001395327.1:p.Lys45Gln
  • NP_001395328.1:p.Lys45Gln
  • NP_001395329.1:p.Lys45Gln
  • NP_001395330.1:p.Lys45Gln
  • NP_001395331.1:p.Lys45Gln
  • NP_001395332.1:p.Lys45Gln
  • NP_001395333.1:p.Lys45Gln
  • NP_001395335.1:p.Lys45Gln
  • NP_001395336.1:p.Lys45Gln
  • NP_001395337.1:p.Lys45Gln
  • NP_001395338.1:p.Lys45Gln
  • NP_001395340.1:p.Lys45Gln
  • NP_001395341.1:p.Lys45Gln
  • NP_001395342.1:p.Lys45Gln
  • NP_001395343.1:p.Lys45Gln
  • NP_001395344.1:p.Lys45Gln
  • NP_001395345.1:p.Lys45Gln
  • NP_001395347.1:p.Lys45Gln
  • NP_001395348.1:p.Lys45Gln
  • NP_001395349.1:p.Lys45Gln
  • NP_001395350.1:p.Lys45Gln
  • NP_001395351.1:p.Lys45Gln
  • NP_001395352.1:p.Lys45Gln
  • NP_001395353.1:p.Lys45Gln
  • NP_001395354.1:p.Lys45Gln
  • NP_001395355.1:p.Lys45Gln
  • NP_001395356.1:p.Lys45Gln
  • NP_001395357.1:p.Lys45Gln
  • NP_001395358.1:p.Lys45Gln
  • NP_001395359.1:p.Lys45Gln
  • NP_001395360.1:p.Lys45Gln
  • NP_001395361.1:p.Lys45Gln
  • NP_001395362.1:p.Lys45Gln
  • NP_001395363.1:p.Lys45Gln
  • NP_001395364.1:p.Lys45Gln
  • NP_001395365.1:p.Lys45Gln
  • NP_001395366.1:p.Lys45Gln
  • NP_001395367.1:p.Lys45Gln
  • NP_001395368.1:p.Lys45Gln
  • NP_001395369.1:p.Lys45Gln
  • NP_001395370.1:p.Lys45Gln
  • NP_001395371.1:p.Lys45Gln
  • NP_001395372.1:p.Lys45Gln
  • NP_001395373.1:p.Lys45Gln
  • NP_001395374.1:p.Lys45Gln
  • NP_001395375.1:p.Lys45Gln
  • NP_001395376.1:p.Lys45Gln
  • NP_001395377.1:p.Lys45Gln
  • NP_001395379.1:p.Lys45Gln
  • NP_001395401.1:p.Lys45Gln
  • NP_001395402.1:p.Lys45Gln
  • NP_001395403.1:p.Lys45Gln
  • NP_001395404.1:p.Lys45Gln
  • NP_001395405.1:p.Lys45Gln
  • NP_001395423.1:p.Lys45Gln
  • NP_001395424.1:p.Lys45Gln
  • NP_009225.1:p.Lys45Gln
  • NP_009225.1:p.Lys45Gln
  • NP_009229.2:p.Lys45Gln
  • NP_009229.2:p.Lys45Gln
  • NP_009230.2:p.Lys45Gln
  • NP_009231.2:p.Lys45Gln
  • NP_009235.2:p.Lys45Gln
  • LRG_292t1:c.133A>C
  • LRG_292:g.102257A>C
  • LRG_292p1:p.Lys45Gln
  • NC_000017.10:g.41267744T>G
  • NM_007294.3:c.133A>C
  • NM_007298.3:c.133A>C
  • NR_027676.2:n.335A>C
  • P38398:p.Lys45Gln
  • p.K45Q
Nucleotide change:
252A>C
Protein change:
K45Q
Links:
BRCA1-HCI: BRCA1_00116; UniProtKB: P38398#VAR_070459; dbSNP: rs769650474
NCBI 1000 Genomes Browser:
rs769650474
Molecular consequence:
  • NM_007297.4:c.-8+8290A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.133A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.335A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047335Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Dec 3, 2022) 		unknownclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105
See all PubMed Citations (11)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047335.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024