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NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 9, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000704369.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)]

NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)

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.121C>T (p.His41Tyr)
HGVS:
  • NC_000017.11:g.43115739G>A
  • NG_005905.2:g.102245C>T
  • NM_001407571.1:c.-68C>T
  • NM_001407581.1:c.121C>T
  • NM_001407582.1:c.121C>T
  • NM_001407583.1:c.121C>T
  • NM_001407585.1:c.121C>T
  • NM_001407587.1:c.121C>T
  • NM_001407590.1:c.121C>T
  • NM_001407591.1:c.121C>T
  • NM_001407593.1:c.121C>T
  • NM_001407594.1:c.121C>T
  • NM_001407596.1:c.121C>T
  • NM_001407597.1:c.121C>T
  • NM_001407598.1:c.121C>T
  • NM_001407602.1:c.121C>T
  • NM_001407603.1:c.121C>T
  • NM_001407605.1:c.121C>T
  • NM_001407610.1:c.121C>T
  • NM_001407611.1:c.121C>T
  • NM_001407612.1:c.121C>T
  • NM_001407613.1:c.121C>T
  • NM_001407614.1:c.121C>T
  • NM_001407615.1:c.121C>T
  • NM_001407616.1:c.121C>T
  • NM_001407617.1:c.121C>T
  • NM_001407618.1:c.121C>T
  • NM_001407619.1:c.121C>T
  • NM_001407620.1:c.121C>T
  • NM_001407621.1:c.121C>T
  • NM_001407622.1:c.121C>T
  • NM_001407623.1:c.121C>T
  • NM_001407624.1:c.121C>T
  • NM_001407625.1:c.121C>T
  • NM_001407626.1:c.121C>T
  • NM_001407627.1:c.121C>T
  • NM_001407628.1:c.121C>T
  • NM_001407629.1:c.121C>T
  • NM_001407630.1:c.121C>T
  • NM_001407631.1:c.121C>T
  • NM_001407632.1:c.121C>T
  • NM_001407633.1:c.121C>T
  • NM_001407634.1:c.121C>T
  • NM_001407635.1:c.121C>T
  • NM_001407636.1:c.121C>T
  • NM_001407637.1:c.121C>T
  • NM_001407638.1:c.121C>T
  • NM_001407639.1:c.121C>T
  • NM_001407640.1:c.121C>T
  • NM_001407641.1:c.121C>T
  • NM_001407642.1:c.121C>T
  • NM_001407644.1:c.121C>T
  • NM_001407645.1:c.121C>T
  • NM_001407646.1:c.121C>T
  • NM_001407647.1:c.121C>T
  • NM_001407648.1:c.121C>T
  • NM_001407649.1:c.121C>T
  • NM_001407652.1:c.121C>T
  • NM_001407653.1:c.121C>T
  • NM_001407654.1:c.121C>T
  • NM_001407655.1:c.121C>T
  • NM_001407656.1:c.121C>T
  • NM_001407657.1:c.121C>T
  • NM_001407658.1:c.121C>T
  • NM_001407659.1:c.121C>T
  • NM_001407660.1:c.121C>T
  • NM_001407661.1:c.121C>T
  • NM_001407662.1:c.121C>T
  • NM_001407663.1:c.121C>T
  • NM_001407664.1:c.121C>T
  • NM_001407665.1:c.121C>T
  • NM_001407666.1:c.121C>T
  • NM_001407667.1:c.121C>T
  • NM_001407668.1:c.121C>T
  • NM_001407669.1:c.121C>T
  • NM_001407670.1:c.121C>T
  • NM_001407671.1:c.121C>T
  • NM_001407672.1:c.121C>T
  • NM_001407673.1:c.121C>T
  • NM_001407674.1:c.121C>T
  • NM_001407675.1:c.121C>T
  • NM_001407676.1:c.121C>T
  • NM_001407677.1:c.121C>T
  • NM_001407678.1:c.121C>T
  • NM_001407679.1:c.121C>T
  • NM_001407680.1:c.121C>T
  • NM_001407681.1:c.121C>T
  • NM_001407682.1:c.121C>T
  • NM_001407683.1:c.121C>T
  • NM_001407684.1:c.121C>T
  • NM_001407685.1:c.121C>T
  • NM_001407686.1:c.121C>T
  • NM_001407687.1:c.121C>T
  • NM_001407688.1:c.121C>T
  • NM_001407689.1:c.121C>T
  • NM_001407690.1:c.121C>T
  • NM_001407691.1:c.121C>T
  • NM_001407694.1:c.-137C>T
  • NM_001407695.1:c.-141C>T
  • NM_001407696.1:c.-137C>T
  • NM_001407697.1:c.-21C>T
  • NM_001407724.1:c.-137C>T
  • NM_001407725.1:c.-21C>T
  • NM_001407727.1:c.-137C>T
  • NM_001407728.1:c.-21C>T
  • NM_001407729.1:c.-21C>T
  • NM_001407730.1:c.-21C>T
  • NM_001407731.1:c.-137C>T
  • NM_001407733.1:c.-137C>T
  • NM_001407734.1:c.-21C>T
  • NM_001407735.1:c.-21C>T
  • NM_001407737.1:c.-21C>T
  • NM_001407739.1:c.-21C>T
  • NM_001407740.1:c.-21C>T
  • NM_001407741.1:c.-21C>T
  • NM_001407743.1:c.-21C>T
  • NM_001407745.1:c.-21C>T
  • NM_001407746.1:c.-137C>T
  • NM_001407748.1:c.-21C>T
  • NM_001407749.1:c.-137C>T
  • NM_001407752.1:c.-21C>T
  • NM_001407838.1:c.-21C>T
  • NM_001407839.1:c.-21C>T
  • NM_001407841.1:c.-17C>T
  • NM_001407842.1:c.-137C>T
  • NM_001407843.1:c.-137C>T
  • NM_001407844.1:c.-21C>T
  • NM_001407846.1:c.-21C>T
  • NM_001407847.1:c.-21C>T
  • NM_001407848.1:c.-21C>T
  • NM_001407850.1:c.-21C>T
  • NM_001407851.1:c.-21C>T
  • NM_001407853.1:c.-68C>T
  • NM_001407854.1:c.121C>T
  • NM_001407858.1:c.121C>T
  • NM_001407859.1:c.121C>T
  • NM_001407860.1:c.121C>T
  • NM_001407861.1:c.121C>T
  • NM_001407862.1:c.121C>T
  • NM_001407863.1:c.121C>T
  • NM_001407874.1:c.121C>T
  • NM_001407875.1:c.121C>T
  • NM_001407879.1:c.-68C>T
  • NM_001407882.1:c.-68C>T
  • NM_001407884.1:c.-68C>T
  • NM_001407885.1:c.-68C>T
  • NM_001407886.1:c.-68C>T
  • NM_001407887.1:c.-68C>T
  • NM_001407889.1:c.-184C>T
  • NM_001407894.1:c.-68C>T
  • NM_001407895.1:c.-68C>T
  • NM_001407896.1:c.-68C>T
  • NM_001407897.1:c.-68C>T
  • NM_001407899.1:c.-68C>T
  • NM_001407900.1:c.-184C>T
  • NM_001407904.1:c.-68C>T
  • NM_001407906.1:c.-68C>T
  • NM_001407907.1:c.-68C>T
  • NM_001407908.1:c.-68C>T
  • NM_001407909.1:c.-68C>T
  • NM_001407910.1:c.-68C>T
  • NM_001407915.1:c.-68C>T
  • NM_001407916.1:c.-68C>T
  • NM_001407917.1:c.-68C>T
  • NM_001407918.1:c.-68C>T
  • NM_001407919.1:c.121C>T
  • NM_001407920.1:c.-21C>T
  • NM_001407921.1:c.-21C>T
  • NM_001407922.1:c.-21C>T
  • NM_001407923.1:c.-21C>T
  • NM_001407926.1:c.-21C>T
  • NM_001407927.1:c.-21C>T
  • NM_001407930.1:c.-137C>T
  • NM_001407933.1:c.-21C>T
  • NM_001407934.1:c.-21C>T
  • NM_001407935.1:c.-21C>T
  • NM_001407937.1:c.121C>T
  • NM_001407938.1:c.121C>T
  • NM_001407939.1:c.121C>T
  • NM_001407940.1:c.121C>T
  • NM_001407941.1:c.121C>T
  • NM_001407942.1:c.-137C>T
  • NM_001407943.1:c.-21C>T
  • NM_001407944.1:c.-21C>T
  • NM_001407946.1:c.-68C>T
  • NM_001407947.1:c.-68C>T
  • NM_001407948.1:c.-68C>T
  • NM_001407949.1:c.-68C>T
  • NM_001407950.1:c.-68C>T
  • NM_001407951.1:c.-68C>T
  • NM_001407952.1:c.-68C>T
  • NM_001407953.1:c.-68C>T
  • NM_001407954.1:c.-68C>T
  • NM_001407955.1:c.-68C>T
  • NM_001407956.1:c.-68C>T
  • NM_001407957.1:c.-68C>T
  • NM_001407958.1:c.-68C>T
  • NM_001407960.1:c.-183C>T
  • NM_001407962.1:c.-183C>T
  • NM_001407964.1:c.-21C>T
  • NM_001407965.1:c.-299C>T
  • NM_001407968.1:c.121C>T
  • NM_001407969.1:c.121C>T
  • NM_001407970.1:c.121C>T
  • NM_001407971.1:c.121C>T
  • NM_001407972.1:c.121C>T
  • NM_001407973.1:c.121C>T
  • NM_001407974.1:c.121C>T
  • NM_001407975.1:c.121C>T
  • NM_001407976.1:c.121C>T
  • NM_001407977.1:c.121C>T
  • NM_001407978.1:c.121C>T
  • NM_001407979.1:c.121C>T
  • NM_001407980.1:c.121C>T
  • NM_001407981.1:c.121C>T
  • NM_001407982.1:c.121C>T
  • NM_001407983.1:c.121C>T
  • NM_001407984.1:c.121C>T
  • NM_001407985.1:c.121C>T
  • NM_001407986.1:c.121C>T
  • NM_001407990.1:c.121C>T
  • NM_001407991.1:c.121C>T
  • NM_001407992.1:c.121C>T
  • NM_001407993.1:c.121C>T
  • NM_001408392.1:c.121C>T
  • NM_001408396.1:c.121C>T
  • NM_001408397.1:c.121C>T
  • NM_001408398.1:c.121C>T
  • NM_001408399.1:c.121C>T
  • NM_001408400.1:c.121C>T
  • NM_001408401.1:c.121C>T
  • NM_001408402.1:c.121C>T
  • NM_001408403.1:c.121C>T
  • NM_001408404.1:c.121C>T
  • NM_001408406.1:c.121C>T
  • NM_001408407.1:c.121C>T
  • NM_001408408.1:c.121C>T
  • NM_001408409.1:c.121C>T
  • NM_001408410.1:c.-21C>T
  • NM_001408411.1:c.121C>T
  • NM_001408412.1:c.121C>T
  • NM_001408413.1:c.121C>T
  • NM_001408414.1:c.121C>T
  • NM_001408415.1:c.121C>T
  • NM_001408416.1:c.121C>T
  • NM_001408418.1:c.121C>T
  • NM_001408419.1:c.121C>T
  • NM_001408420.1:c.121C>T
  • NM_001408421.1:c.121C>T
  • NM_001408422.1:c.121C>T
  • NM_001408423.1:c.121C>T
  • NM_001408424.1:c.121C>T
  • NM_001408425.1:c.121C>T
  • NM_001408426.1:c.121C>T
  • NM_001408427.1:c.121C>T
  • NM_001408428.1:c.121C>T
  • NM_001408429.1:c.121C>T
  • NM_001408430.1:c.121C>T
  • NM_001408431.1:c.121C>T
  • NM_001408432.1:c.121C>T
  • NM_001408433.1:c.121C>T
  • NM_001408434.1:c.121C>T
  • NM_001408435.1:c.121C>T
  • NM_001408436.1:c.121C>T
  • NM_001408437.1:c.121C>T
  • NM_001408438.1:c.121C>T
  • NM_001408439.1:c.121C>T
  • NM_001408440.1:c.121C>T
  • NM_001408441.1:c.121C>T
  • NM_001408442.1:c.121C>T
  • NM_001408443.1:c.121C>T
  • NM_001408444.1:c.121C>T
  • NM_001408445.1:c.121C>T
  • NM_001408446.1:c.121C>T
  • NM_001408447.1:c.121C>T
  • NM_001408448.1:c.121C>T
  • NM_001408450.1:c.121C>T
  • NM_001408452.1:c.-21C>T
  • NM_001408453.1:c.-21C>T
  • NM_001408455.1:c.-137C>T
  • NM_001408456.1:c.-137C>T
  • NM_001408458.1:c.-21C>T
  • NM_001408462.1:c.-21C>T
  • NM_001408463.1:c.-21C>T
  • NM_001408465.1:c.-141C>T
  • NM_001408466.1:c.-21C>T
  • NM_001408468.1:c.-137C>T
  • NM_001408469.1:c.-21C>T
  • NM_001408470.1:c.-21C>T
  • NM_001408472.1:c.121C>T
  • NM_001408473.1:c.121C>T
  • NM_001408474.1:c.121C>T
  • NM_001408475.1:c.121C>T
  • NM_001408476.1:c.121C>T
  • NM_001408478.1:c.-68C>T
  • NM_001408479.1:c.-68C>T
  • NM_001408480.1:c.-68C>T
  • NM_001408481.1:c.-68C>T
  • NM_001408482.1:c.-68C>T
  • NM_001408483.1:c.-68C>T
  • NM_001408484.1:c.-68C>T
  • NM_001408485.1:c.-68C>T
  • NM_001408489.1:c.-68C>T
  • NM_001408490.1:c.-68C>T
  • NM_001408491.1:c.-68C>T
  • NM_001408492.1:c.-184C>T
  • NM_001408493.1:c.-68C>T
  • NM_001408494.1:c.121C>T
  • NM_001408495.1:c.121C>T
  • NM_001408497.1:c.-21C>T
  • NM_001408499.1:c.-21C>T
  • NM_001408500.1:c.-21C>T
  • NM_001408501.1:c.-137C>T
  • NM_001408502.1:c.-68C>T
  • NM_001408503.1:c.-21C>T
  • NM_001408504.1:c.-21C>T
  • NM_001408505.1:c.-21C>T
  • NM_001408506.1:c.-68C>T
  • NM_001408507.1:c.-68C>T
  • NM_001408508.1:c.-68C>T
  • NM_001408509.1:c.-68C>T
  • NM_001408510.1:c.-183C>T
  • NM_001408512.1:c.-183C>T
  • NM_001408513.1:c.-68C>T
  • NM_001408514.1:c.-68C>T
  • NM_007294.4:c.121C>TMANE SELECT
  • NM_007297.4:c.-8+8278C>T
  • NM_007298.4:c.121C>T
  • NM_007299.4:c.121C>T
  • NM_007300.3:c.121C>T
  • NM_007300.4:c.121C>T
  • NM_007304.2:c.121C>T
  • NP_001394510.1:p.His41Tyr
  • NP_001394511.1:p.His41Tyr
  • NP_001394512.1:p.His41Tyr
  • NP_001394514.1:p.His41Tyr
  • NP_001394516.1:p.His41Tyr
  • NP_001394519.1:p.His41Tyr
  • NP_001394520.1:p.His41Tyr
  • NP_001394522.1:p.His41Tyr
  • NP_001394523.1:p.His41Tyr
  • NP_001394525.1:p.His41Tyr
  • NP_001394526.1:p.His41Tyr
  • NP_001394527.1:p.His41Tyr
  • NP_001394531.1:p.His41Tyr
  • NP_001394532.1:p.His41Tyr
  • NP_001394534.1:p.His41Tyr
  • NP_001394539.1:p.His41Tyr
  • NP_001394540.1:p.His41Tyr
  • NP_001394541.1:p.His41Tyr
  • NP_001394542.1:p.His41Tyr
  • NP_001394543.1:p.His41Tyr
  • NP_001394544.1:p.His41Tyr
  • NP_001394545.1:p.His41Tyr
  • NP_001394546.1:p.His41Tyr
  • NP_001394547.1:p.His41Tyr
  • NP_001394548.1:p.His41Tyr
  • NP_001394549.1:p.His41Tyr
  • NP_001394550.1:p.His41Tyr
  • NP_001394551.1:p.His41Tyr
  • NP_001394552.1:p.His41Tyr
  • NP_001394553.1:p.His41Tyr
  • NP_001394554.1:p.His41Tyr
  • NP_001394555.1:p.His41Tyr
  • NP_001394556.1:p.His41Tyr
  • NP_001394557.1:p.His41Tyr
  • NP_001394558.1:p.His41Tyr
  • NP_001394559.1:p.His41Tyr
  • NP_001394560.1:p.His41Tyr
  • NP_001394561.1:p.His41Tyr
  • NP_001394562.1:p.His41Tyr
  • NP_001394563.1:p.His41Tyr
  • NP_001394564.1:p.His41Tyr
  • NP_001394565.1:p.His41Tyr
  • NP_001394566.1:p.His41Tyr
  • NP_001394567.1:p.His41Tyr
  • NP_001394568.1:p.His41Tyr
  • NP_001394569.1:p.His41Tyr
  • NP_001394570.1:p.His41Tyr
  • NP_001394571.1:p.His41Tyr
  • NP_001394573.1:p.His41Tyr
  • NP_001394574.1:p.His41Tyr
  • NP_001394575.1:p.His41Tyr
  • NP_001394576.1:p.His41Tyr
  • NP_001394577.1:p.His41Tyr
  • NP_001394578.1:p.His41Tyr
  • NP_001394581.1:p.His41Tyr
  • NP_001394582.1:p.His41Tyr
  • NP_001394583.1:p.His41Tyr
  • NP_001394584.1:p.His41Tyr
  • NP_001394585.1:p.His41Tyr
  • NP_001394586.1:p.His41Tyr
  • NP_001394587.1:p.His41Tyr
  • NP_001394588.1:p.His41Tyr
  • NP_001394589.1:p.His41Tyr
  • NP_001394590.1:p.His41Tyr
  • NP_001394591.1:p.His41Tyr
  • NP_001394592.1:p.His41Tyr
  • NP_001394593.1:p.His41Tyr
  • NP_001394594.1:p.His41Tyr
  • NP_001394595.1:p.His41Tyr
  • NP_001394596.1:p.His41Tyr
  • NP_001394597.1:p.His41Tyr
  • NP_001394598.1:p.His41Tyr
  • NP_001394599.1:p.His41Tyr
  • NP_001394600.1:p.His41Tyr
  • NP_001394601.1:p.His41Tyr
  • NP_001394602.1:p.His41Tyr
  • NP_001394603.1:p.His41Tyr
  • NP_001394604.1:p.His41Tyr
  • NP_001394605.1:p.His41Tyr
  • NP_001394606.1:p.His41Tyr
  • NP_001394607.1:p.His41Tyr
  • NP_001394608.1:p.His41Tyr
  • NP_001394609.1:p.His41Tyr
  • NP_001394610.1:p.His41Tyr
  • NP_001394611.1:p.His41Tyr
  • NP_001394612.1:p.His41Tyr
  • NP_001394613.1:p.His41Tyr
  • NP_001394614.1:p.His41Tyr
  • NP_001394615.1:p.His41Tyr
  • NP_001394616.1:p.His41Tyr
  • NP_001394617.1:p.His41Tyr
  • NP_001394618.1:p.His41Tyr
  • NP_001394619.1:p.His41Tyr
  • NP_001394620.1:p.His41Tyr
  • NP_001394783.1:p.His41Tyr
  • NP_001394787.1:p.His41Tyr
  • NP_001394788.1:p.His41Tyr
  • NP_001394789.1:p.His41Tyr
  • NP_001394790.1:p.His41Tyr
  • NP_001394791.1:p.His41Tyr
  • NP_001394792.1:p.His41Tyr
  • NP_001394803.1:p.His41Tyr
  • NP_001394804.1:p.His41Tyr
  • NP_001394848.1:p.His41Tyr
  • NP_001394866.1:p.His41Tyr
  • NP_001394867.1:p.His41Tyr
  • NP_001394868.1:p.His41Tyr
  • NP_001394869.1:p.His41Tyr
  • NP_001394870.1:p.His41Tyr
  • NP_001394897.1:p.His41Tyr
  • NP_001394898.1:p.His41Tyr
  • NP_001394899.1:p.His41Tyr
  • NP_001394900.1:p.His41Tyr
  • NP_001394901.1:p.His41Tyr
  • NP_001394902.1:p.His41Tyr
  • NP_001394903.1:p.His41Tyr
  • NP_001394904.1:p.His41Tyr
  • NP_001394905.1:p.His41Tyr
  • NP_001394906.1:p.His41Tyr
  • NP_001394907.1:p.His41Tyr
  • NP_001394908.1:p.His41Tyr
  • NP_001394909.1:p.His41Tyr
  • NP_001394910.1:p.His41Tyr
  • NP_001394911.1:p.His41Tyr
  • NP_001394912.1:p.His41Tyr
  • NP_001394913.1:p.His41Tyr
  • NP_001394914.1:p.His41Tyr
  • NP_001394915.1:p.His41Tyr
  • NP_001394919.1:p.His41Tyr
  • NP_001394920.1:p.His41Tyr
  • NP_001394921.1:p.His41Tyr
  • NP_001394922.1:p.His41Tyr
  • NP_001395321.1:p.His41Tyr
  • NP_001395325.1:p.His41Tyr
  • NP_001395326.1:p.His41Tyr
  • NP_001395327.1:p.His41Tyr
  • NP_001395328.1:p.His41Tyr
  • NP_001395329.1:p.His41Tyr
  • NP_001395330.1:p.His41Tyr
  • NP_001395331.1:p.His41Tyr
  • NP_001395332.1:p.His41Tyr
  • NP_001395333.1:p.His41Tyr
  • NP_001395335.1:p.His41Tyr
  • NP_001395336.1:p.His41Tyr
  • NP_001395337.1:p.His41Tyr
  • NP_001395338.1:p.His41Tyr
  • NP_001395340.1:p.His41Tyr
  • NP_001395341.1:p.His41Tyr
  • NP_001395342.1:p.His41Tyr
  • NP_001395343.1:p.His41Tyr
  • NP_001395344.1:p.His41Tyr
  • NP_001395345.1:p.His41Tyr
  • NP_001395347.1:p.His41Tyr
  • NP_001395348.1:p.His41Tyr
  • NP_001395349.1:p.His41Tyr
  • NP_001395350.1:p.His41Tyr
  • NP_001395351.1:p.His41Tyr
  • NP_001395352.1:p.His41Tyr
  • NP_001395353.1:p.His41Tyr
  • NP_001395354.1:p.His41Tyr
  • NP_001395355.1:p.His41Tyr
  • NP_001395356.1:p.His41Tyr
  • NP_001395357.1:p.His41Tyr
  • NP_001395358.1:p.His41Tyr
  • NP_001395359.1:p.His41Tyr
  • NP_001395360.1:p.His41Tyr
  • NP_001395361.1:p.His41Tyr
  • NP_001395362.1:p.His41Tyr
  • NP_001395363.1:p.His41Tyr
  • NP_001395364.1:p.His41Tyr
  • NP_001395365.1:p.His41Tyr
  • NP_001395366.1:p.His41Tyr
  • NP_001395367.1:p.His41Tyr
  • NP_001395368.1:p.His41Tyr
  • NP_001395369.1:p.His41Tyr
  • NP_001395370.1:p.His41Tyr
  • NP_001395371.1:p.His41Tyr
  • NP_001395372.1:p.His41Tyr
  • NP_001395373.1:p.His41Tyr
  • NP_001395374.1:p.His41Tyr
  • NP_001395375.1:p.His41Tyr
  • NP_001395376.1:p.His41Tyr
  • NP_001395377.1:p.His41Tyr
  • NP_001395379.1:p.His41Tyr
  • NP_001395401.1:p.His41Tyr
  • NP_001395402.1:p.His41Tyr
  • NP_001395403.1:p.His41Tyr
  • NP_001395404.1:p.His41Tyr
  • NP_001395405.1:p.His41Tyr
  • NP_001395423.1:p.His41Tyr
  • NP_001395424.1:p.His41Tyr
  • NP_009225.1:p.His41Tyr
  • NP_009225.1:p.His41Tyr
  • NP_009229.2:p.His41Tyr
  • NP_009229.2:p.His41Tyr
  • NP_009230.2:p.His41Tyr
  • NP_009231.2:p.His41Tyr
  • NP_009235.2:p.His41Tyr
  • LRG_292t1:c.121C>T
  • LRG_292:g.102245C>T
  • LRG_292p1:p.His41Tyr
  • NC_000017.10:g.41267756G>A
  • NM_007294.3:c.121C>T
  • NM_007294.4:c.121C>T
  • NM_007298.3:c.121C>T
  • NR_027676.2:n.323C>T
Protein change:
H41Y
Links:
dbSNP: rs1060502353
NCBI 1000 Genomes Browser:
rs1060502353
Molecular consequence:
  • NM_007297.4:c.-8+8278C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.121C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.323C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
1

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
SCV000833315Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 9, 2024) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

SCV001449162Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 14, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

PubMed [citation]
PMID:
28486781
PMCID:
PMC5526459

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
See all PubMed Citations (11)

Details of each submission

From Invitae, SCV000833315.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 41 of the BRCA1 protein (p.His41Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 28486781). ClinVar contains an entry for this variant (Variation ID: 580736). 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: 25823446, 30209399). This variant disrupts the p.His41 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15168169, 16403807, 20103620, 21725363, 23161852, 24489791, 30209399). 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

From Cancer Variant Interpretation Group UK, Institute of Cancer Research, London, SCV001449162.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

Data included in classification: This variant has been reported in one UK case of ovarain cancer, with LOH at 17q on tumour testing. The variant is absent from GNOMAD (PM2_sup), predicted deleterious on multiple in silico tools including REVEL 0.9 (PP3_sup), affects the same amino acid residue as c.122A>G p.(His41Arg) (PM5_mod), with this residue recognised by ENIGMA as of functional importance (PM1_mod). The variant is non-functional on saturation genome editing in haploid BRCA1 cellular model (Findlay et al 2018, PMID: 30209399) (PS3_Strong). Data not included in classification: Recent (2019-2020) classification as LP/P from Invitae and Color

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 4, 2024