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NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 22, 2023
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:
RCV000496391.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)]

NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)

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.116G>A (p.Cys39Tyr)
HGVS:
  • NC_000017.11:g.43115744C>T
  • NG_005905.2:g.102240G>A
  • NM_001407571.1:c.-73G>A
  • NM_001407581.1:c.116G>A
  • NM_001407582.1:c.116G>A
  • NM_001407583.1:c.116G>A
  • NM_001407585.1:c.116G>A
  • NM_001407587.1:c.116G>A
  • NM_001407590.1:c.116G>A
  • NM_001407591.1:c.116G>A
  • NM_001407593.1:c.116G>A
  • NM_001407594.1:c.116G>A
  • NM_001407596.1:c.116G>A
  • NM_001407597.1:c.116G>A
  • NM_001407598.1:c.116G>A
  • NM_001407602.1:c.116G>A
  • NM_001407603.1:c.116G>A
  • NM_001407605.1:c.116G>A
  • NM_001407610.1:c.116G>A
  • NM_001407611.1:c.116G>A
  • NM_001407612.1:c.116G>A
  • NM_001407613.1:c.116G>A
  • NM_001407614.1:c.116G>A
  • NM_001407615.1:c.116G>A
  • NM_001407616.1:c.116G>A
  • NM_001407617.1:c.116G>A
  • NM_001407618.1:c.116G>A
  • NM_001407619.1:c.116G>A
  • NM_001407620.1:c.116G>A
  • NM_001407621.1:c.116G>A
  • NM_001407622.1:c.116G>A
  • NM_001407623.1:c.116G>A
  • NM_001407624.1:c.116G>A
  • NM_001407625.1:c.116G>A
  • NM_001407626.1:c.116G>A
  • NM_001407627.1:c.116G>A
  • NM_001407628.1:c.116G>A
  • NM_001407629.1:c.116G>A
  • NM_001407630.1:c.116G>A
  • NM_001407631.1:c.116G>A
  • NM_001407632.1:c.116G>A
  • NM_001407633.1:c.116G>A
  • NM_001407634.1:c.116G>A
  • NM_001407635.1:c.116G>A
  • NM_001407636.1:c.116G>A
  • NM_001407637.1:c.116G>A
  • NM_001407638.1:c.116G>A
  • NM_001407639.1:c.116G>A
  • NM_001407640.1:c.116G>A
  • NM_001407641.1:c.116G>A
  • NM_001407642.1:c.116G>A
  • NM_001407644.1:c.116G>A
  • NM_001407645.1:c.116G>A
  • NM_001407646.1:c.116G>A
  • NM_001407647.1:c.116G>A
  • NM_001407648.1:c.116G>A
  • NM_001407649.1:c.116G>A
  • NM_001407652.1:c.116G>A
  • NM_001407653.1:c.116G>A
  • NM_001407654.1:c.116G>A
  • NM_001407655.1:c.116G>A
  • NM_001407656.1:c.116G>A
  • NM_001407657.1:c.116G>A
  • NM_001407658.1:c.116G>A
  • NM_001407659.1:c.116G>A
  • NM_001407660.1:c.116G>A
  • NM_001407661.1:c.116G>A
  • NM_001407662.1:c.116G>A
  • NM_001407663.1:c.116G>A
  • NM_001407664.1:c.116G>A
  • NM_001407665.1:c.116G>A
  • NM_001407666.1:c.116G>A
  • NM_001407667.1:c.116G>A
  • NM_001407668.1:c.116G>A
  • NM_001407669.1:c.116G>A
  • NM_001407670.1:c.116G>A
  • NM_001407671.1:c.116G>A
  • NM_001407672.1:c.116G>A
  • NM_001407673.1:c.116G>A
  • NM_001407674.1:c.116G>A
  • NM_001407675.1:c.116G>A
  • NM_001407676.1:c.116G>A
  • NM_001407677.1:c.116G>A
  • NM_001407678.1:c.116G>A
  • NM_001407679.1:c.116G>A
  • NM_001407680.1:c.116G>A
  • NM_001407681.1:c.116G>A
  • NM_001407682.1:c.116G>A
  • NM_001407683.1:c.116G>A
  • NM_001407684.1:c.116G>A
  • NM_001407685.1:c.116G>A
  • NM_001407686.1:c.116G>A
  • NM_001407687.1:c.116G>A
  • NM_001407688.1:c.116G>A
  • NM_001407689.1:c.116G>A
  • NM_001407690.1:c.116G>A
  • NM_001407691.1:c.116G>A
  • NM_001407694.1:c.-142G>A
  • NM_001407695.1:c.-146G>A
  • NM_001407696.1:c.-142G>A
  • NM_001407697.1:c.-26G>A
  • NM_001407724.1:c.-142G>A
  • NM_001407725.1:c.-26G>A
  • NM_001407727.1:c.-142G>A
  • NM_001407728.1:c.-26G>A
  • NM_001407729.1:c.-26G>A
  • NM_001407730.1:c.-26G>A
  • NM_001407731.1:c.-142G>A
  • NM_001407733.1:c.-142G>A
  • NM_001407734.1:c.-26G>A
  • NM_001407735.1:c.-26G>A
  • NM_001407737.1:c.-26G>A
  • NM_001407739.1:c.-26G>A
  • NM_001407740.1:c.-26G>A
  • NM_001407741.1:c.-26G>A
  • NM_001407743.1:c.-26G>A
  • NM_001407745.1:c.-26G>A
  • NM_001407746.1:c.-142G>A
  • NM_001407748.1:c.-26G>A
  • NM_001407749.1:c.-142G>A
  • NM_001407752.1:c.-26G>A
  • NM_001407838.1:c.-26G>A
  • NM_001407839.1:c.-26G>A
  • NM_001407841.1:c.-22G>A
  • NM_001407842.1:c.-142G>A
  • NM_001407843.1:c.-142G>A
  • NM_001407844.1:c.-26G>A
  • NM_001407846.1:c.-26G>A
  • NM_001407847.1:c.-26G>A
  • NM_001407848.1:c.-26G>A
  • NM_001407850.1:c.-26G>A
  • NM_001407851.1:c.-26G>A
  • NM_001407853.1:c.-73G>A
  • NM_001407854.1:c.116G>A
  • NM_001407858.1:c.116G>A
  • NM_001407859.1:c.116G>A
  • NM_001407860.1:c.116G>A
  • NM_001407861.1:c.116G>A
  • NM_001407862.1:c.116G>A
  • NM_001407863.1:c.116G>A
  • NM_001407874.1:c.116G>A
  • NM_001407875.1:c.116G>A
  • NM_001407879.1:c.-73G>A
  • NM_001407882.1:c.-73G>A
  • NM_001407884.1:c.-73G>A
  • NM_001407885.1:c.-73G>A
  • NM_001407886.1:c.-73G>A
  • NM_001407887.1:c.-73G>A
  • NM_001407889.1:c.-189G>A
  • NM_001407894.1:c.-73G>A
  • NM_001407895.1:c.-73G>A
  • NM_001407896.1:c.-73G>A
  • NM_001407897.1:c.-73G>A
  • NM_001407899.1:c.-73G>A
  • NM_001407900.1:c.-189G>A
  • NM_001407904.1:c.-73G>A
  • NM_001407906.1:c.-73G>A
  • NM_001407907.1:c.-73G>A
  • NM_001407908.1:c.-73G>A
  • NM_001407909.1:c.-73G>A
  • NM_001407910.1:c.-73G>A
  • NM_001407915.1:c.-73G>A
  • NM_001407916.1:c.-73G>A
  • NM_001407917.1:c.-73G>A
  • NM_001407918.1:c.-73G>A
  • NM_001407919.1:c.116G>A
  • NM_001407920.1:c.-26G>A
  • NM_001407921.1:c.-26G>A
  • NM_001407922.1:c.-26G>A
  • NM_001407923.1:c.-26G>A
  • NM_001407926.1:c.-26G>A
  • NM_001407927.1:c.-26G>A
  • NM_001407930.1:c.-142G>A
  • NM_001407933.1:c.-26G>A
  • NM_001407934.1:c.-26G>A
  • NM_001407935.1:c.-26G>A
  • NM_001407937.1:c.116G>A
  • NM_001407938.1:c.116G>A
  • NM_001407939.1:c.116G>A
  • NM_001407940.1:c.116G>A
  • NM_001407941.1:c.116G>A
  • NM_001407942.1:c.-142G>A
  • NM_001407943.1:c.-26G>A
  • NM_001407944.1:c.-26G>A
  • NM_001407946.1:c.-73G>A
  • NM_001407947.1:c.-73G>A
  • NM_001407948.1:c.-73G>A
  • NM_001407949.1:c.-73G>A
  • NM_001407950.1:c.-73G>A
  • NM_001407951.1:c.-73G>A
  • NM_001407952.1:c.-73G>A
  • NM_001407953.1:c.-73G>A
  • NM_001407954.1:c.-73G>A
  • NM_001407955.1:c.-73G>A
  • NM_001407956.1:c.-73G>A
  • NM_001407957.1:c.-73G>A
  • NM_001407958.1:c.-73G>A
  • NM_001407960.1:c.-188G>A
  • NM_001407962.1:c.-188G>A
  • NM_001407964.1:c.-26G>A
  • NM_001407965.1:c.-304G>A
  • NM_001407968.1:c.116G>A
  • NM_001407969.1:c.116G>A
  • NM_001407970.1:c.116G>A
  • NM_001407971.1:c.116G>A
  • NM_001407972.1:c.116G>A
  • NM_001407973.1:c.116G>A
  • NM_001407974.1:c.116G>A
  • NM_001407975.1:c.116G>A
  • NM_001407976.1:c.116G>A
  • NM_001407977.1:c.116G>A
  • NM_001407978.1:c.116G>A
  • NM_001407979.1:c.116G>A
  • NM_001407980.1:c.116G>A
  • NM_001407981.1:c.116G>A
  • NM_001407982.1:c.116G>A
  • NM_001407983.1:c.116G>A
  • NM_001407984.1:c.116G>A
  • NM_001407985.1:c.116G>A
  • NM_001407986.1:c.116G>A
  • NM_001407990.1:c.116G>A
  • NM_001407991.1:c.116G>A
  • NM_001407992.1:c.116G>A
  • NM_001407993.1:c.116G>A
  • NM_001408392.1:c.116G>A
  • NM_001408396.1:c.116G>A
  • NM_001408397.1:c.116G>A
  • NM_001408398.1:c.116G>A
  • NM_001408399.1:c.116G>A
  • NM_001408400.1:c.116G>A
  • NM_001408401.1:c.116G>A
  • NM_001408402.1:c.116G>A
  • NM_001408403.1:c.116G>A
  • NM_001408404.1:c.116G>A
  • NM_001408406.1:c.116G>A
  • NM_001408407.1:c.116G>A
  • NM_001408408.1:c.116G>A
  • NM_001408409.1:c.116G>A
  • NM_001408410.1:c.-26G>A
  • NM_001408411.1:c.116G>A
  • NM_001408412.1:c.116G>A
  • NM_001408413.1:c.116G>A
  • NM_001408414.1:c.116G>A
  • NM_001408415.1:c.116G>A
  • NM_001408416.1:c.116G>A
  • NM_001408418.1:c.116G>A
  • NM_001408419.1:c.116G>A
  • NM_001408420.1:c.116G>A
  • NM_001408421.1:c.116G>A
  • NM_001408422.1:c.116G>A
  • NM_001408423.1:c.116G>A
  • NM_001408424.1:c.116G>A
  • NM_001408425.1:c.116G>A
  • NM_001408426.1:c.116G>A
  • NM_001408427.1:c.116G>A
  • NM_001408428.1:c.116G>A
  • NM_001408429.1:c.116G>A
  • NM_001408430.1:c.116G>A
  • NM_001408431.1:c.116G>A
  • NM_001408432.1:c.116G>A
  • NM_001408433.1:c.116G>A
  • NM_001408434.1:c.116G>A
  • NM_001408435.1:c.116G>A
  • NM_001408436.1:c.116G>A
  • NM_001408437.1:c.116G>A
  • NM_001408438.1:c.116G>A
  • NM_001408439.1:c.116G>A
  • NM_001408440.1:c.116G>A
  • NM_001408441.1:c.116G>A
  • NM_001408442.1:c.116G>A
  • NM_001408443.1:c.116G>A
  • NM_001408444.1:c.116G>A
  • NM_001408445.1:c.116G>A
  • NM_001408446.1:c.116G>A
  • NM_001408447.1:c.116G>A
  • NM_001408448.1:c.116G>A
  • NM_001408450.1:c.116G>A
  • NM_001408452.1:c.-26G>A
  • NM_001408453.1:c.-26G>A
  • NM_001408455.1:c.-142G>A
  • NM_001408456.1:c.-142G>A
  • NM_001408458.1:c.-26G>A
  • NM_001408462.1:c.-26G>A
  • NM_001408463.1:c.-26G>A
  • NM_001408465.1:c.-146G>A
  • NM_001408466.1:c.-26G>A
  • NM_001408468.1:c.-142G>A
  • NM_001408469.1:c.-26G>A
  • NM_001408470.1:c.-26G>A
  • NM_001408472.1:c.116G>A
  • NM_001408473.1:c.116G>A
  • NM_001408474.1:c.116G>A
  • NM_001408475.1:c.116G>A
  • NM_001408476.1:c.116G>A
  • NM_001408478.1:c.-73G>A
  • NM_001408479.1:c.-73G>A
  • NM_001408480.1:c.-73G>A
  • NM_001408481.1:c.-73G>A
  • NM_001408482.1:c.-73G>A
  • NM_001408483.1:c.-73G>A
  • NM_001408484.1:c.-73G>A
  • NM_001408485.1:c.-73G>A
  • NM_001408489.1:c.-73G>A
  • NM_001408490.1:c.-73G>A
  • NM_001408491.1:c.-73G>A
  • NM_001408492.1:c.-189G>A
  • NM_001408493.1:c.-73G>A
  • NM_001408494.1:c.116G>A
  • NM_001408495.1:c.116G>A
  • NM_001408497.1:c.-26G>A
  • NM_001408499.1:c.-26G>A
  • NM_001408500.1:c.-26G>A
  • NM_001408501.1:c.-142G>A
  • NM_001408502.1:c.-73G>A
  • NM_001408503.1:c.-26G>A
  • NM_001408504.1:c.-26G>A
  • NM_001408505.1:c.-26G>A
  • NM_001408506.1:c.-73G>A
  • NM_001408507.1:c.-73G>A
  • NM_001408508.1:c.-73G>A
  • NM_001408509.1:c.-73G>A
  • NM_001408510.1:c.-188G>A
  • NM_001408512.1:c.-188G>A
  • NM_001408513.1:c.-73G>A
  • NM_001408514.1:c.-73G>A
  • NM_007294.4:c.116G>AMANE SELECT
  • NM_007297.4:c.-8+8273G>A
  • NM_007298.4:c.116G>A
  • NM_007299.4:c.116G>A
  • NM_007300.4:c.116G>A
  • NM_007304.2:c.116G>A
  • NP_001394510.1:p.Cys39Tyr
  • NP_001394511.1:p.Cys39Tyr
  • NP_001394512.1:p.Cys39Tyr
  • NP_001394514.1:p.Cys39Tyr
  • NP_001394516.1:p.Cys39Tyr
  • NP_001394519.1:p.Cys39Tyr
  • NP_001394520.1:p.Cys39Tyr
  • NP_001394522.1:p.Cys39Tyr
  • NP_001394523.1:p.Cys39Tyr
  • NP_001394525.1:p.Cys39Tyr
  • NP_001394526.1:p.Cys39Tyr
  • NP_001394527.1:p.Cys39Tyr
  • NP_001394531.1:p.Cys39Tyr
  • NP_001394532.1:p.Cys39Tyr
  • NP_001394534.1:p.Cys39Tyr
  • NP_001394539.1:p.Cys39Tyr
  • NP_001394540.1:p.Cys39Tyr
  • NP_001394541.1:p.Cys39Tyr
  • NP_001394542.1:p.Cys39Tyr
  • NP_001394543.1:p.Cys39Tyr
  • NP_001394544.1:p.Cys39Tyr
  • NP_001394545.1:p.Cys39Tyr
  • NP_001394546.1:p.Cys39Tyr
  • NP_001394547.1:p.Cys39Tyr
  • NP_001394548.1:p.Cys39Tyr
  • NP_001394549.1:p.Cys39Tyr
  • NP_001394550.1:p.Cys39Tyr
  • NP_001394551.1:p.Cys39Tyr
  • NP_001394552.1:p.Cys39Tyr
  • NP_001394553.1:p.Cys39Tyr
  • NP_001394554.1:p.Cys39Tyr
  • NP_001394555.1:p.Cys39Tyr
  • NP_001394556.1:p.Cys39Tyr
  • NP_001394557.1:p.Cys39Tyr
  • NP_001394558.1:p.Cys39Tyr
  • NP_001394559.1:p.Cys39Tyr
  • NP_001394560.1:p.Cys39Tyr
  • NP_001394561.1:p.Cys39Tyr
  • NP_001394562.1:p.Cys39Tyr
  • NP_001394563.1:p.Cys39Tyr
  • NP_001394564.1:p.Cys39Tyr
  • NP_001394565.1:p.Cys39Tyr
  • NP_001394566.1:p.Cys39Tyr
  • NP_001394567.1:p.Cys39Tyr
  • NP_001394568.1:p.Cys39Tyr
  • NP_001394569.1:p.Cys39Tyr
  • NP_001394570.1:p.Cys39Tyr
  • NP_001394571.1:p.Cys39Tyr
  • NP_001394573.1:p.Cys39Tyr
  • NP_001394574.1:p.Cys39Tyr
  • NP_001394575.1:p.Cys39Tyr
  • NP_001394576.1:p.Cys39Tyr
  • NP_001394577.1:p.Cys39Tyr
  • NP_001394578.1:p.Cys39Tyr
  • NP_001394581.1:p.Cys39Tyr
  • NP_001394582.1:p.Cys39Tyr
  • NP_001394583.1:p.Cys39Tyr
  • NP_001394584.1:p.Cys39Tyr
  • NP_001394585.1:p.Cys39Tyr
  • NP_001394586.1:p.Cys39Tyr
  • NP_001394587.1:p.Cys39Tyr
  • NP_001394588.1:p.Cys39Tyr
  • NP_001394589.1:p.Cys39Tyr
  • NP_001394590.1:p.Cys39Tyr
  • NP_001394591.1:p.Cys39Tyr
  • NP_001394592.1:p.Cys39Tyr
  • NP_001394593.1:p.Cys39Tyr
  • NP_001394594.1:p.Cys39Tyr
  • NP_001394595.1:p.Cys39Tyr
  • NP_001394596.1:p.Cys39Tyr
  • NP_001394597.1:p.Cys39Tyr
  • NP_001394598.1:p.Cys39Tyr
  • NP_001394599.1:p.Cys39Tyr
  • NP_001394600.1:p.Cys39Tyr
  • NP_001394601.1:p.Cys39Tyr
  • NP_001394602.1:p.Cys39Tyr
  • NP_001394603.1:p.Cys39Tyr
  • NP_001394604.1:p.Cys39Tyr
  • NP_001394605.1:p.Cys39Tyr
  • NP_001394606.1:p.Cys39Tyr
  • NP_001394607.1:p.Cys39Tyr
  • NP_001394608.1:p.Cys39Tyr
  • NP_001394609.1:p.Cys39Tyr
  • NP_001394610.1:p.Cys39Tyr
  • NP_001394611.1:p.Cys39Tyr
  • NP_001394612.1:p.Cys39Tyr
  • NP_001394613.1:p.Cys39Tyr
  • NP_001394614.1:p.Cys39Tyr
  • NP_001394615.1:p.Cys39Tyr
  • NP_001394616.1:p.Cys39Tyr
  • NP_001394617.1:p.Cys39Tyr
  • NP_001394618.1:p.Cys39Tyr
  • NP_001394619.1:p.Cys39Tyr
  • NP_001394620.1:p.Cys39Tyr
  • NP_001394783.1:p.Cys39Tyr
  • NP_001394787.1:p.Cys39Tyr
  • NP_001394788.1:p.Cys39Tyr
  • NP_001394789.1:p.Cys39Tyr
  • NP_001394790.1:p.Cys39Tyr
  • NP_001394791.1:p.Cys39Tyr
  • NP_001394792.1:p.Cys39Tyr
  • NP_001394803.1:p.Cys39Tyr
  • NP_001394804.1:p.Cys39Tyr
  • NP_001394848.1:p.Cys39Tyr
  • NP_001394866.1:p.Cys39Tyr
  • NP_001394867.1:p.Cys39Tyr
  • NP_001394868.1:p.Cys39Tyr
  • NP_001394869.1:p.Cys39Tyr
  • NP_001394870.1:p.Cys39Tyr
  • NP_001394897.1:p.Cys39Tyr
  • NP_001394898.1:p.Cys39Tyr
  • NP_001394899.1:p.Cys39Tyr
  • NP_001394900.1:p.Cys39Tyr
  • NP_001394901.1:p.Cys39Tyr
  • NP_001394902.1:p.Cys39Tyr
  • NP_001394903.1:p.Cys39Tyr
  • NP_001394904.1:p.Cys39Tyr
  • NP_001394905.1:p.Cys39Tyr
  • NP_001394906.1:p.Cys39Tyr
  • NP_001394907.1:p.Cys39Tyr
  • NP_001394908.1:p.Cys39Tyr
  • NP_001394909.1:p.Cys39Tyr
  • NP_001394910.1:p.Cys39Tyr
  • NP_001394911.1:p.Cys39Tyr
  • NP_001394912.1:p.Cys39Tyr
  • NP_001394913.1:p.Cys39Tyr
  • NP_001394914.1:p.Cys39Tyr
  • NP_001394915.1:p.Cys39Tyr
  • NP_001394919.1:p.Cys39Tyr
  • NP_001394920.1:p.Cys39Tyr
  • NP_001394921.1:p.Cys39Tyr
  • NP_001394922.1:p.Cys39Tyr
  • NP_001395321.1:p.Cys39Tyr
  • NP_001395325.1:p.Cys39Tyr
  • NP_001395326.1:p.Cys39Tyr
  • NP_001395327.1:p.Cys39Tyr
  • NP_001395328.1:p.Cys39Tyr
  • NP_001395329.1:p.Cys39Tyr
  • NP_001395330.1:p.Cys39Tyr
  • NP_001395331.1:p.Cys39Tyr
  • NP_001395332.1:p.Cys39Tyr
  • NP_001395333.1:p.Cys39Tyr
  • NP_001395335.1:p.Cys39Tyr
  • NP_001395336.1:p.Cys39Tyr
  • NP_001395337.1:p.Cys39Tyr
  • NP_001395338.1:p.Cys39Tyr
  • NP_001395340.1:p.Cys39Tyr
  • NP_001395341.1:p.Cys39Tyr
  • NP_001395342.1:p.Cys39Tyr
  • NP_001395343.1:p.Cys39Tyr
  • NP_001395344.1:p.Cys39Tyr
  • NP_001395345.1:p.Cys39Tyr
  • NP_001395347.1:p.Cys39Tyr
  • NP_001395348.1:p.Cys39Tyr
  • NP_001395349.1:p.Cys39Tyr
  • NP_001395350.1:p.Cys39Tyr
  • NP_001395351.1:p.Cys39Tyr
  • NP_001395352.1:p.Cys39Tyr
  • NP_001395353.1:p.Cys39Tyr
  • NP_001395354.1:p.Cys39Tyr
  • NP_001395355.1:p.Cys39Tyr
  • NP_001395356.1:p.Cys39Tyr
  • NP_001395357.1:p.Cys39Tyr
  • NP_001395358.1:p.Cys39Tyr
  • NP_001395359.1:p.Cys39Tyr
  • NP_001395360.1:p.Cys39Tyr
  • NP_001395361.1:p.Cys39Tyr
  • NP_001395362.1:p.Cys39Tyr
  • NP_001395363.1:p.Cys39Tyr
  • NP_001395364.1:p.Cys39Tyr
  • NP_001395365.1:p.Cys39Tyr
  • NP_001395366.1:p.Cys39Tyr
  • NP_001395367.1:p.Cys39Tyr
  • NP_001395368.1:p.Cys39Tyr
  • NP_001395369.1:p.Cys39Tyr
  • NP_001395370.1:p.Cys39Tyr
  • NP_001395371.1:p.Cys39Tyr
  • NP_001395372.1:p.Cys39Tyr
  • NP_001395373.1:p.Cys39Tyr
  • NP_001395374.1:p.Cys39Tyr
  • NP_001395375.1:p.Cys39Tyr
  • NP_001395376.1:p.Cys39Tyr
  • NP_001395377.1:p.Cys39Tyr
  • NP_001395379.1:p.Cys39Tyr
  • NP_001395401.1:p.Cys39Tyr
  • NP_001395402.1:p.Cys39Tyr
  • NP_001395403.1:p.Cys39Tyr
  • NP_001395404.1:p.Cys39Tyr
  • NP_001395405.1:p.Cys39Tyr
  • NP_001395423.1:p.Cys39Tyr
  • NP_001395424.1:p.Cys39Tyr
  • NP_009225.1:p.Cys39Tyr
  • NP_009225.1:p.Cys39Tyr
  • NP_009229.2:p.Cys39Tyr
  • NP_009229.2:p.Cys39Tyr
  • NP_009230.2:p.Cys39Tyr
  • NP_009231.2:p.Cys39Tyr
  • NP_009235.2:p.Cys39Tyr
  • LRG_292t1:c.116G>A
  • LRG_292:g.102240G>A
  • LRG_292p1:p.Cys39Tyr
  • NC_000017.10:g.41267761C>T
  • NM_007294.3:c.116G>A
  • NM_007298.3:c.116G>A
  • NR_027676.2:n.318G>A
  • U14680.1:n.235G>A
Protein change:
C39Y
Links:
dbSNP: rs80357498
NCBI 1000 Genomes Browser:
rs80357498
Molecular consequence:
  • NM_007297.4:c.-8+8273G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.318G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - 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
SCV000587014Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Likely pathogenic
(Dec 17, 2015) 		germlineresearch

SCV001583684Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 22, 2023) 		germlineclinical testing

PubMed (20)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer.

Santarosa M, Viel A, Dolcetti R, Crivellari D, Magri MD, Pizzichetta MA, Tibiletti MG, Gallo A, Tumolo S, Del Tin L, Boiocchi M.

Int J Cancer. 1998 Nov 23;78(5):581-6.

PubMed [citation]
PMID:
9808526

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M, Novaković S.

BMC Med Genet. 2011 Jan 14;12:9. doi: 10.1186/1471-2350-12-9.

PubMed [citation]
PMID:
21232165
PMCID:
PMC3025939
See all PubMed Citations (20)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587014.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001583684.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (20)

Description

This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 39 of the BRCA1 protein (p.Cys39Tyr). This variant is present in population databases (rs80357498, gnomAD 0.007%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 9808526, 21232165, 22752604, 22923021, 23397983, 26852130). This variant is also known as 235G>A. ClinVar contains an entry for this variant (Variation ID: 37392). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 11320250, 20103620, 21725363, 21922593, 23161852, 27272900). This variant disrupts the p.Cys39 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12827452, 18500671, 19504351, 19543972, 21990134, 23683081). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 20, 2024