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 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:: 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

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)

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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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	PubMed (11) [See all records that cite these PMIDs] 15983021, 19491284, 11320250, 20103620, 19543972, 21990134, 25823446, 27272900, 28664506, 30209399, 28492532

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

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

Help

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

Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women.

Haffty BG, Silber A, Matloff E, Chung J, Lannin D.

J Med Genet. 2006 Feb;43(2):133-7. Epub 2005 Jun 27.

PubMed [citation]

PMID:: 15983021
PMCID:: PMC2564628

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

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.

PubMed [citation]

PMID:: 19491284

See all PubMed Citations (11)

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

ClinVar

Relating variation to medicine