NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 8, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001389942.5
Allele description [Variation Report for NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)]
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)
- 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.110C>G (p.Thr37Arg)
- HGVS:
- NC_000017.11:g.43115750G>C
- NG_005905.2:g.102234C>G
- NM_001407571.1:c.-79C>G
- NM_001407581.1:c.110C>G
- NM_001407582.1:c.110C>G
- NM_001407583.1:c.110C>G
- NM_001407585.1:c.110C>G
- NM_001407587.1:c.110C>G
- NM_001407590.1:c.110C>G
- NM_001407591.1:c.110C>G
- NM_001407593.1:c.110C>G
- NM_001407594.1:c.110C>G
- NM_001407596.1:c.110C>G
- NM_001407597.1:c.110C>G
- NM_001407598.1:c.110C>G
- NM_001407602.1:c.110C>G
- NM_001407603.1:c.110C>G
- NM_001407605.1:c.110C>G
- NM_001407610.1:c.110C>G
- NM_001407611.1:c.110C>G
- NM_001407612.1:c.110C>G
- NM_001407613.1:c.110C>G
- NM_001407614.1:c.110C>G
- NM_001407615.1:c.110C>G
- NM_001407616.1:c.110C>G
- NM_001407617.1:c.110C>G
- NM_001407618.1:c.110C>G
- NM_001407619.1:c.110C>G
- NM_001407620.1:c.110C>G
- NM_001407621.1:c.110C>G
- NM_001407622.1:c.110C>G
- NM_001407623.1:c.110C>G
- NM_001407624.1:c.110C>G
- NM_001407625.1:c.110C>G
- NM_001407626.1:c.110C>G
- NM_001407627.1:c.110C>G
- NM_001407628.1:c.110C>G
- NM_001407629.1:c.110C>G
- NM_001407630.1:c.110C>G
- NM_001407631.1:c.110C>G
- NM_001407632.1:c.110C>G
- NM_001407633.1:c.110C>G
- NM_001407634.1:c.110C>G
- NM_001407635.1:c.110C>G
- NM_001407636.1:c.110C>G
- NM_001407637.1:c.110C>G
- NM_001407638.1:c.110C>G
- NM_001407639.1:c.110C>G
- NM_001407640.1:c.110C>G
- NM_001407641.1:c.110C>G
- NM_001407642.1:c.110C>G
- NM_001407644.1:c.110C>G
- NM_001407645.1:c.110C>G
- NM_001407646.1:c.110C>G
- NM_001407647.1:c.110C>G
- NM_001407648.1:c.110C>G
- NM_001407649.1:c.110C>G
- NM_001407652.1:c.110C>G
- NM_001407653.1:c.110C>G
- NM_001407654.1:c.110C>G
- NM_001407655.1:c.110C>G
- NM_001407656.1:c.110C>G
- NM_001407657.1:c.110C>G
- NM_001407658.1:c.110C>G
- NM_001407659.1:c.110C>G
- NM_001407660.1:c.110C>G
- NM_001407661.1:c.110C>G
- NM_001407662.1:c.110C>G
- NM_001407663.1:c.110C>G
- NM_001407664.1:c.110C>G
- NM_001407665.1:c.110C>G
- NM_001407666.1:c.110C>G
- NM_001407667.1:c.110C>G
- NM_001407668.1:c.110C>G
- NM_001407669.1:c.110C>G
- NM_001407670.1:c.110C>G
- NM_001407671.1:c.110C>G
- NM_001407672.1:c.110C>G
- NM_001407673.1:c.110C>G
- NM_001407674.1:c.110C>G
- NM_001407675.1:c.110C>G
- NM_001407676.1:c.110C>G
- NM_001407677.1:c.110C>G
- NM_001407678.1:c.110C>G
- NM_001407679.1:c.110C>G
- NM_001407680.1:c.110C>G
- NM_001407681.1:c.110C>G
- NM_001407682.1:c.110C>G
- NM_001407683.1:c.110C>G
- NM_001407684.1:c.110C>G
- NM_001407685.1:c.110C>G
- NM_001407686.1:c.110C>G
- NM_001407687.1:c.110C>G
- NM_001407688.1:c.110C>G
- NM_001407689.1:c.110C>G
- NM_001407690.1:c.110C>G
- NM_001407691.1:c.110C>G
- NM_001407694.1:c.-148C>G
- NM_001407695.1:c.-152C>G
- NM_001407696.1:c.-148C>G
- NM_001407697.1:c.-32C>G
- NM_001407724.1:c.-148C>G
- NM_001407725.1:c.-32C>G
- NM_001407727.1:c.-148C>G
- NM_001407728.1:c.-32C>G
- NM_001407729.1:c.-32C>G
- NM_001407730.1:c.-32C>G
- NM_001407731.1:c.-148C>G
- NM_001407733.1:c.-148C>G
- NM_001407734.1:c.-32C>G
- NM_001407735.1:c.-32C>G
- NM_001407737.1:c.-32C>G
- NM_001407739.1:c.-32C>G
- NM_001407740.1:c.-32C>G
- NM_001407741.1:c.-32C>G
- NM_001407743.1:c.-32C>G
- NM_001407745.1:c.-32C>G
- NM_001407746.1:c.-148C>G
- NM_001407748.1:c.-32C>G
- NM_001407749.1:c.-148C>G
- NM_001407752.1:c.-32C>G
- NM_001407838.1:c.-32C>G
- NM_001407839.1:c.-32C>G
- NM_001407841.1:c.-28C>G
- NM_001407842.1:c.-148C>G
- NM_001407843.1:c.-148C>G
- NM_001407844.1:c.-32C>G
- NM_001407846.1:c.-32C>G
- NM_001407847.1:c.-32C>G
- NM_001407848.1:c.-32C>G
- NM_001407850.1:c.-32C>G
- NM_001407851.1:c.-32C>G
- NM_001407853.1:c.-79C>G
- NM_001407854.1:c.110C>G
- NM_001407858.1:c.110C>G
- NM_001407859.1:c.110C>G
- NM_001407860.1:c.110C>G
- NM_001407861.1:c.110C>G
- NM_001407862.1:c.110C>G
- NM_001407863.1:c.110C>G
- NM_001407874.1:c.110C>G
- NM_001407875.1:c.110C>G
- NM_001407879.1:c.-79C>G
- NM_001407882.1:c.-79C>G
- NM_001407884.1:c.-79C>G
- NM_001407885.1:c.-79C>G
- NM_001407886.1:c.-79C>G
- NM_001407887.1:c.-79C>G
- NM_001407889.1:c.-195C>G
- NM_001407894.1:c.-79C>G
- NM_001407895.1:c.-79C>G
- NM_001407896.1:c.-79C>G
- NM_001407897.1:c.-79C>G
- NM_001407899.1:c.-79C>G
- NM_001407900.1:c.-195C>G
- NM_001407904.1:c.-79C>G
- NM_001407906.1:c.-79C>G
- NM_001407907.1:c.-79C>G
- NM_001407908.1:c.-79C>G
- NM_001407909.1:c.-79C>G
- NM_001407910.1:c.-79C>G
- NM_001407915.1:c.-79C>G
- NM_001407916.1:c.-79C>G
- NM_001407917.1:c.-79C>G
- NM_001407918.1:c.-79C>G
- NM_001407919.1:c.110C>G
- NM_001407920.1:c.-32C>G
- NM_001407921.1:c.-32C>G
- NM_001407922.1:c.-32C>G
- NM_001407923.1:c.-32C>G
- NM_001407926.1:c.-32C>G
- NM_001407927.1:c.-32C>G
- NM_001407930.1:c.-148C>G
- NM_001407933.1:c.-32C>G
- NM_001407934.1:c.-32C>G
- NM_001407935.1:c.-32C>G
- NM_001407937.1:c.110C>G
- NM_001407938.1:c.110C>G
- NM_001407939.1:c.110C>G
- NM_001407940.1:c.110C>G
- NM_001407941.1:c.110C>G
- NM_001407942.1:c.-148C>G
- NM_001407943.1:c.-32C>G
- NM_001407944.1:c.-32C>G
- NM_001407946.1:c.-79C>G
- NM_001407947.1:c.-79C>G
- NM_001407948.1:c.-79C>G
- NM_001407949.1:c.-79C>G
- NM_001407950.1:c.-79C>G
- NM_001407951.1:c.-79C>G
- NM_001407952.1:c.-79C>G
- NM_001407953.1:c.-79C>G
- NM_001407954.1:c.-79C>G
- NM_001407955.1:c.-79C>G
- NM_001407956.1:c.-79C>G
- NM_001407957.1:c.-79C>G
- NM_001407958.1:c.-79C>G
- NM_001407960.1:c.-194C>G
- NM_001407962.1:c.-194C>G
- NM_001407964.1:c.-32C>G
- NM_001407965.1:c.-310C>G
- NM_001407968.1:c.110C>G
- NM_001407969.1:c.110C>G
- NM_001407970.1:c.110C>G
- NM_001407971.1:c.110C>G
- NM_001407972.1:c.110C>G
- NM_001407973.1:c.110C>G
- NM_001407974.1:c.110C>G
- NM_001407975.1:c.110C>G
- NM_001407976.1:c.110C>G
- NM_001407977.1:c.110C>G
- NM_001407978.1:c.110C>G
- NM_001407979.1:c.110C>G
- NM_001407980.1:c.110C>G
- NM_001407981.1:c.110C>G
- NM_001407982.1:c.110C>G
- NM_001407983.1:c.110C>G
- NM_001407984.1:c.110C>G
- NM_001407985.1:c.110C>G
- NM_001407986.1:c.110C>G
- NM_001407990.1:c.110C>G
- NM_001407991.1:c.110C>G
- NM_001407992.1:c.110C>G
- NM_001407993.1:c.110C>G
- NM_001408392.1:c.110C>G
- NM_001408396.1:c.110C>G
- NM_001408397.1:c.110C>G
- NM_001408398.1:c.110C>G
- NM_001408399.1:c.110C>G
- NM_001408400.1:c.110C>G
- NM_001408401.1:c.110C>G
- NM_001408402.1:c.110C>G
- NM_001408403.1:c.110C>G
- NM_001408404.1:c.110C>G
- NM_001408406.1:c.110C>G
- NM_001408407.1:c.110C>G
- NM_001408408.1:c.110C>G
- NM_001408409.1:c.110C>G
- NM_001408410.1:c.-32C>G
- NM_001408411.1:c.110C>G
- NM_001408412.1:c.110C>G
- NM_001408413.1:c.110C>G
- NM_001408414.1:c.110C>G
- NM_001408415.1:c.110C>G
- NM_001408416.1:c.110C>G
- NM_001408418.1:c.110C>G
- NM_001408419.1:c.110C>G
- NM_001408420.1:c.110C>G
- NM_001408421.1:c.110C>G
- NM_001408422.1:c.110C>G
- NM_001408423.1:c.110C>G
- NM_001408424.1:c.110C>G
- NM_001408425.1:c.110C>G
- NM_001408426.1:c.110C>G
- NM_001408427.1:c.110C>G
- NM_001408428.1:c.110C>G
- NM_001408429.1:c.110C>G
- NM_001408430.1:c.110C>G
- NM_001408431.1:c.110C>G
- NM_001408432.1:c.110C>G
- NM_001408433.1:c.110C>G
- NM_001408434.1:c.110C>G
- NM_001408435.1:c.110C>G
- NM_001408436.1:c.110C>G
- NM_001408437.1:c.110C>G
- NM_001408438.1:c.110C>G
- NM_001408439.1:c.110C>G
- NM_001408440.1:c.110C>G
- NM_001408441.1:c.110C>G
- NM_001408442.1:c.110C>G
- NM_001408443.1:c.110C>G
- NM_001408444.1:c.110C>G
- NM_001408445.1:c.110C>G
- NM_001408446.1:c.110C>G
- NM_001408447.1:c.110C>G
- NM_001408448.1:c.110C>G
- NM_001408450.1:c.110C>G
- NM_001408452.1:c.-32C>G
- NM_001408453.1:c.-32C>G
- NM_001408455.1:c.-148C>G
- NM_001408456.1:c.-148C>G
- NM_001408458.1:c.-32C>G
- NM_001408462.1:c.-32C>G
- NM_001408463.1:c.-32C>G
- NM_001408465.1:c.-152C>G
- NM_001408466.1:c.-32C>G
- NM_001408468.1:c.-148C>G
- NM_001408469.1:c.-32C>G
- NM_001408470.1:c.-32C>G
- NM_001408472.1:c.110C>G
- NM_001408473.1:c.110C>G
- NM_001408474.1:c.110C>G
- NM_001408475.1:c.110C>G
- NM_001408476.1:c.110C>G
- NM_001408478.1:c.-79C>G
- NM_001408479.1:c.-79C>G
- NM_001408480.1:c.-79C>G
- NM_001408481.1:c.-79C>G
- NM_001408482.1:c.-79C>G
- NM_001408483.1:c.-79C>G
- NM_001408484.1:c.-79C>G
- NM_001408485.1:c.-79C>G
- NM_001408489.1:c.-79C>G
- NM_001408490.1:c.-79C>G
- NM_001408491.1:c.-79C>G
- NM_001408492.1:c.-195C>G
- NM_001408493.1:c.-79C>G
- NM_001408494.1:c.110C>G
- NM_001408495.1:c.110C>G
- NM_001408497.1:c.-32C>G
- NM_001408499.1:c.-32C>G
- NM_001408500.1:c.-32C>G
- NM_001408501.1:c.-148C>G
- NM_001408502.1:c.-79C>G
- NM_001408503.1:c.-32C>G
- NM_001408504.1:c.-32C>G
- NM_001408505.1:c.-32C>G
- NM_001408506.1:c.-79C>G
- NM_001408507.1:c.-79C>G
- NM_001408508.1:c.-79C>G
- NM_001408509.1:c.-79C>G
- NM_001408510.1:c.-194C>G
- NM_001408512.1:c.-194C>G
- NM_001408513.1:c.-79C>G
- NM_001408514.1:c.-79C>G
- NM_007294.4:c.110C>GMANE SELECT
- NM_007297.4:c.-8+8267C>G
- NM_007298.4:c.110C>G
- NM_007299.4:c.110C>G
- NM_007300.4:c.110C>G
- NM_007304.2:c.110C>G
- NP_001394510.1:p.Thr37Arg
- NP_001394511.1:p.Thr37Arg
- NP_001394512.1:p.Thr37Arg
- NP_001394514.1:p.Thr37Arg
- NP_001394516.1:p.Thr37Arg
- NP_001394519.1:p.Thr37Arg
- NP_001394520.1:p.Thr37Arg
- NP_001394522.1:p.Thr37Arg
- NP_001394523.1:p.Thr37Arg
- NP_001394525.1:p.Thr37Arg
- NP_001394526.1:p.Thr37Arg
- NP_001394527.1:p.Thr37Arg
- NP_001394531.1:p.Thr37Arg
- NP_001394532.1:p.Thr37Arg
- NP_001394534.1:p.Thr37Arg
- NP_001394539.1:p.Thr37Arg
- NP_001394540.1:p.Thr37Arg
- NP_001394541.1:p.Thr37Arg
- NP_001394542.1:p.Thr37Arg
- NP_001394543.1:p.Thr37Arg
- NP_001394544.1:p.Thr37Arg
- NP_001394545.1:p.Thr37Arg
- NP_001394546.1:p.Thr37Arg
- NP_001394547.1:p.Thr37Arg
- NP_001394548.1:p.Thr37Arg
- NP_001394549.1:p.Thr37Arg
- NP_001394550.1:p.Thr37Arg
- NP_001394551.1:p.Thr37Arg
- NP_001394552.1:p.Thr37Arg
- NP_001394553.1:p.Thr37Arg
- NP_001394554.1:p.Thr37Arg
- NP_001394555.1:p.Thr37Arg
- NP_001394556.1:p.Thr37Arg
- NP_001394557.1:p.Thr37Arg
- NP_001394558.1:p.Thr37Arg
- NP_001394559.1:p.Thr37Arg
- NP_001394560.1:p.Thr37Arg
- NP_001394561.1:p.Thr37Arg
- NP_001394562.1:p.Thr37Arg
- NP_001394563.1:p.Thr37Arg
- NP_001394564.1:p.Thr37Arg
- NP_001394565.1:p.Thr37Arg
- NP_001394566.1:p.Thr37Arg
- NP_001394567.1:p.Thr37Arg
- NP_001394568.1:p.Thr37Arg
- NP_001394569.1:p.Thr37Arg
- NP_001394570.1:p.Thr37Arg
- NP_001394571.1:p.Thr37Arg
- NP_001394573.1:p.Thr37Arg
- NP_001394574.1:p.Thr37Arg
- NP_001394575.1:p.Thr37Arg
- NP_001394576.1:p.Thr37Arg
- NP_001394577.1:p.Thr37Arg
- NP_001394578.1:p.Thr37Arg
- NP_001394581.1:p.Thr37Arg
- NP_001394582.1:p.Thr37Arg
- NP_001394583.1:p.Thr37Arg
- NP_001394584.1:p.Thr37Arg
- NP_001394585.1:p.Thr37Arg
- NP_001394586.1:p.Thr37Arg
- NP_001394587.1:p.Thr37Arg
- NP_001394588.1:p.Thr37Arg
- NP_001394589.1:p.Thr37Arg
- NP_001394590.1:p.Thr37Arg
- NP_001394591.1:p.Thr37Arg
- NP_001394592.1:p.Thr37Arg
- NP_001394593.1:p.Thr37Arg
- NP_001394594.1:p.Thr37Arg
- NP_001394595.1:p.Thr37Arg
- NP_001394596.1:p.Thr37Arg
- NP_001394597.1:p.Thr37Arg
- NP_001394598.1:p.Thr37Arg
- NP_001394599.1:p.Thr37Arg
- NP_001394600.1:p.Thr37Arg
- NP_001394601.1:p.Thr37Arg
- NP_001394602.1:p.Thr37Arg
- NP_001394603.1:p.Thr37Arg
- NP_001394604.1:p.Thr37Arg
- NP_001394605.1:p.Thr37Arg
- NP_001394606.1:p.Thr37Arg
- NP_001394607.1:p.Thr37Arg
- NP_001394608.1:p.Thr37Arg
- NP_001394609.1:p.Thr37Arg
- NP_001394610.1:p.Thr37Arg
- NP_001394611.1:p.Thr37Arg
- NP_001394612.1:p.Thr37Arg
- NP_001394613.1:p.Thr37Arg
- NP_001394614.1:p.Thr37Arg
- NP_001394615.1:p.Thr37Arg
- NP_001394616.1:p.Thr37Arg
- NP_001394617.1:p.Thr37Arg
- NP_001394618.1:p.Thr37Arg
- NP_001394619.1:p.Thr37Arg
- NP_001394620.1:p.Thr37Arg
- NP_001394783.1:p.Thr37Arg
- NP_001394787.1:p.Thr37Arg
- NP_001394788.1:p.Thr37Arg
- NP_001394789.1:p.Thr37Arg
- NP_001394790.1:p.Thr37Arg
- NP_001394791.1:p.Thr37Arg
- NP_001394792.1:p.Thr37Arg
- NP_001394803.1:p.Thr37Arg
- NP_001394804.1:p.Thr37Arg
- NP_001394848.1:p.Thr37Arg
- NP_001394866.1:p.Thr37Arg
- NP_001394867.1:p.Thr37Arg
- NP_001394868.1:p.Thr37Arg
- NP_001394869.1:p.Thr37Arg
- NP_001394870.1:p.Thr37Arg
- NP_001394897.1:p.Thr37Arg
- NP_001394898.1:p.Thr37Arg
- NP_001394899.1:p.Thr37Arg
- NP_001394900.1:p.Thr37Arg
- NP_001394901.1:p.Thr37Arg
- NP_001394902.1:p.Thr37Arg
- NP_001394903.1:p.Thr37Arg
- NP_001394904.1:p.Thr37Arg
- NP_001394905.1:p.Thr37Arg
- NP_001394906.1:p.Thr37Arg
- NP_001394907.1:p.Thr37Arg
- NP_001394908.1:p.Thr37Arg
- NP_001394909.1:p.Thr37Arg
- NP_001394910.1:p.Thr37Arg
- NP_001394911.1:p.Thr37Arg
- NP_001394912.1:p.Thr37Arg
- NP_001394913.1:p.Thr37Arg
- NP_001394914.1:p.Thr37Arg
- NP_001394915.1:p.Thr37Arg
- NP_001394919.1:p.Thr37Arg
- NP_001394920.1:p.Thr37Arg
- NP_001394921.1:p.Thr37Arg
- NP_001394922.1:p.Thr37Arg
- NP_001395321.1:p.Thr37Arg
- NP_001395325.1:p.Thr37Arg
- NP_001395326.1:p.Thr37Arg
- NP_001395327.1:p.Thr37Arg
- NP_001395328.1:p.Thr37Arg
- NP_001395329.1:p.Thr37Arg
- NP_001395330.1:p.Thr37Arg
- NP_001395331.1:p.Thr37Arg
- NP_001395332.1:p.Thr37Arg
- NP_001395333.1:p.Thr37Arg
- NP_001395335.1:p.Thr37Arg
- NP_001395336.1:p.Thr37Arg
- NP_001395337.1:p.Thr37Arg
- NP_001395338.1:p.Thr37Arg
- NP_001395340.1:p.Thr37Arg
- NP_001395341.1:p.Thr37Arg
- NP_001395342.1:p.Thr37Arg
- NP_001395343.1:p.Thr37Arg
- NP_001395344.1:p.Thr37Arg
- NP_001395345.1:p.Thr37Arg
- NP_001395347.1:p.Thr37Arg
- NP_001395348.1:p.Thr37Arg
- NP_001395349.1:p.Thr37Arg
- NP_001395350.1:p.Thr37Arg
- NP_001395351.1:p.Thr37Arg
- NP_001395352.1:p.Thr37Arg
- NP_001395353.1:p.Thr37Arg
- NP_001395354.1:p.Thr37Arg
- NP_001395355.1:p.Thr37Arg
- NP_001395356.1:p.Thr37Arg
- NP_001395357.1:p.Thr37Arg
- NP_001395358.1:p.Thr37Arg
- NP_001395359.1:p.Thr37Arg
- NP_001395360.1:p.Thr37Arg
- NP_001395361.1:p.Thr37Arg
- NP_001395362.1:p.Thr37Arg
- NP_001395363.1:p.Thr37Arg
- NP_001395364.1:p.Thr37Arg
- NP_001395365.1:p.Thr37Arg
- NP_001395366.1:p.Thr37Arg
- NP_001395367.1:p.Thr37Arg
- NP_001395368.1:p.Thr37Arg
- NP_001395369.1:p.Thr37Arg
- NP_001395370.1:p.Thr37Arg
- NP_001395371.1:p.Thr37Arg
- NP_001395372.1:p.Thr37Arg
- NP_001395373.1:p.Thr37Arg
- NP_001395374.1:p.Thr37Arg
- NP_001395375.1:p.Thr37Arg
- NP_001395376.1:p.Thr37Arg
- NP_001395377.1:p.Thr37Arg
- NP_001395379.1:p.Thr37Arg
- NP_001395401.1:p.Thr37Arg
- NP_001395402.1:p.Thr37Arg
- NP_001395403.1:p.Thr37Arg
- NP_001395404.1:p.Thr37Arg
- NP_001395405.1:p.Thr37Arg
- NP_001395423.1:p.Thr37Arg
- NP_001395424.1:p.Thr37Arg
- NP_009225.1:p.Thr37Arg
- NP_009225.1:p.Thr37Arg
- NP_009229.2:p.Thr37Arg
- NP_009229.2:p.Thr37Arg
- NP_009230.2:p.Thr37Arg
- NP_009231.2:p.Thr37Arg
- NP_009235.2:p.Thr37Arg
- LRG_292t1:c.110C>G
- LRG_292:g.102234C>G
- LRG_292p1:p.Thr37Arg
- NC_000017.10:g.41267767G>C
- NM_007294.3:c.110C>G
- NM_007298.3:c.110C>G
- NR_027676.2:n.312C>G
- U14680.1:n.229C>G
- p.T37R
This HGVS expression did not pass validation- Protein change:
- T37R
- Links:
- dbSNP: rs80356880
- NCBI 1000 Genomes Browser:
- rs80356880
- Molecular consequence:
- NM_007297.4:c.-8+8267C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.110C>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.312C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.110C>G, a MISSENSE variant, produced a function score of -2.49, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001591495 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Oct 8, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Haffty BG, Silber A, Matloff E, Chung J, Lannin D.
J Med Genet. 2006 Feb;43(2):133-7. Epub 2005 Jun 27.
- PMID:
- 15983021
- PMCID:
- PMC2564628
Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS.
Ann Oncol. 2009 Oct;20(10):1653-9. doi: 10.1093/annonc/mdp051. Epub 2009 Jun 2.
- PMID:
- 19491284
Details of each submission
From Invitae, SCV001591495.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (11) |
Description
This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 37 of the BRCA1 protein (p.Thr37Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 15983021, 19491284). ClinVar contains an entry for this variant (Variation ID: 54132). 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. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 11320250, 19543972, 20103620, 30209399). This variant disrupts the p.Thr37 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19543972, 21990134, 25823446, 27272900, 28664506, 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jul 15, 2024