NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 18, 2022
- 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:
- RCV001378528.14
Allele description [Variation Report for NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)]
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)
- 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>A (p.Thr37Lys)
- Other names:
- 229C>A
- HGVS:
- NC_000017.11:g.43115750G>T
- NG_005905.2:g.102234C>A
- NM_001407571.1:c.-79C>A
- NM_001407581.1:c.110C>A
- NM_001407582.1:c.110C>A
- NM_001407583.1:c.110C>A
- NM_001407585.1:c.110C>A
- NM_001407587.1:c.110C>A
- NM_001407590.1:c.110C>A
- NM_001407591.1:c.110C>A
- NM_001407593.1:c.110C>A
- NM_001407594.1:c.110C>A
- NM_001407596.1:c.110C>A
- NM_001407597.1:c.110C>A
- NM_001407598.1:c.110C>A
- NM_001407602.1:c.110C>A
- NM_001407603.1:c.110C>A
- NM_001407605.1:c.110C>A
- NM_001407610.1:c.110C>A
- NM_001407611.1:c.110C>A
- NM_001407612.1:c.110C>A
- NM_001407613.1:c.110C>A
- NM_001407614.1:c.110C>A
- NM_001407615.1:c.110C>A
- NM_001407616.1:c.110C>A
- NM_001407617.1:c.110C>A
- NM_001407618.1:c.110C>A
- NM_001407619.1:c.110C>A
- NM_001407620.1:c.110C>A
- NM_001407621.1:c.110C>A
- NM_001407622.1:c.110C>A
- NM_001407623.1:c.110C>A
- NM_001407624.1:c.110C>A
- NM_001407625.1:c.110C>A
- NM_001407626.1:c.110C>A
- NM_001407627.1:c.110C>A
- NM_001407628.1:c.110C>A
- NM_001407629.1:c.110C>A
- NM_001407630.1:c.110C>A
- NM_001407631.1:c.110C>A
- NM_001407632.1:c.110C>A
- NM_001407633.1:c.110C>A
- NM_001407634.1:c.110C>A
- NM_001407635.1:c.110C>A
- NM_001407636.1:c.110C>A
- NM_001407637.1:c.110C>A
- NM_001407638.1:c.110C>A
- NM_001407639.1:c.110C>A
- NM_001407640.1:c.110C>A
- NM_001407641.1:c.110C>A
- NM_001407642.1:c.110C>A
- NM_001407644.1:c.110C>A
- NM_001407645.1:c.110C>A
- NM_001407646.1:c.110C>A
- NM_001407647.1:c.110C>A
- NM_001407648.1:c.110C>A
- NM_001407649.1:c.110C>A
- NM_001407652.1:c.110C>A
- NM_001407653.1:c.110C>A
- NM_001407654.1:c.110C>A
- NM_001407655.1:c.110C>A
- NM_001407656.1:c.110C>A
- NM_001407657.1:c.110C>A
- NM_001407658.1:c.110C>A
- NM_001407659.1:c.110C>A
- NM_001407660.1:c.110C>A
- NM_001407661.1:c.110C>A
- NM_001407662.1:c.110C>A
- NM_001407663.1:c.110C>A
- NM_001407664.1:c.110C>A
- NM_001407665.1:c.110C>A
- NM_001407666.1:c.110C>A
- NM_001407667.1:c.110C>A
- NM_001407668.1:c.110C>A
- NM_001407669.1:c.110C>A
- NM_001407670.1:c.110C>A
- NM_001407671.1:c.110C>A
- NM_001407672.1:c.110C>A
- NM_001407673.1:c.110C>A
- NM_001407674.1:c.110C>A
- NM_001407675.1:c.110C>A
- NM_001407676.1:c.110C>A
- NM_001407677.1:c.110C>A
- NM_001407678.1:c.110C>A
- NM_001407679.1:c.110C>A
- NM_001407680.1:c.110C>A
- NM_001407681.1:c.110C>A
- NM_001407682.1:c.110C>A
- NM_001407683.1:c.110C>A
- NM_001407684.1:c.110C>A
- NM_001407685.1:c.110C>A
- NM_001407686.1:c.110C>A
- NM_001407687.1:c.110C>A
- NM_001407688.1:c.110C>A
- NM_001407689.1:c.110C>A
- NM_001407690.1:c.110C>A
- NM_001407691.1:c.110C>A
- NM_001407694.1:c.-148C>A
- NM_001407695.1:c.-152C>A
- NM_001407696.1:c.-148C>A
- NM_001407697.1:c.-32C>A
- NM_001407724.1:c.-148C>A
- NM_001407725.1:c.-32C>A
- NM_001407727.1:c.-148C>A
- NM_001407728.1:c.-32C>A
- NM_001407729.1:c.-32C>A
- NM_001407730.1:c.-32C>A
- NM_001407731.1:c.-148C>A
- NM_001407733.1:c.-148C>A
- NM_001407734.1:c.-32C>A
- NM_001407735.1:c.-32C>A
- NM_001407737.1:c.-32C>A
- NM_001407739.1:c.-32C>A
- NM_001407740.1:c.-32C>A
- NM_001407741.1:c.-32C>A
- NM_001407743.1:c.-32C>A
- NM_001407745.1:c.-32C>A
- NM_001407746.1:c.-148C>A
- NM_001407748.1:c.-32C>A
- NM_001407749.1:c.-148C>A
- NM_001407752.1:c.-32C>A
- NM_001407838.1:c.-32C>A
- NM_001407839.1:c.-32C>A
- NM_001407841.1:c.-28C>A
- NM_001407842.1:c.-148C>A
- NM_001407843.1:c.-148C>A
- NM_001407844.1:c.-32C>A
- NM_001407846.1:c.-32C>A
- NM_001407847.1:c.-32C>A
- NM_001407848.1:c.-32C>A
- NM_001407850.1:c.-32C>A
- NM_001407851.1:c.-32C>A
- NM_001407853.1:c.-79C>A
- NM_001407854.1:c.110C>A
- NM_001407858.1:c.110C>A
- NM_001407859.1:c.110C>A
- NM_001407860.1:c.110C>A
- NM_001407861.1:c.110C>A
- NM_001407862.1:c.110C>A
- NM_001407863.1:c.110C>A
- NM_001407874.1:c.110C>A
- NM_001407875.1:c.110C>A
- NM_001407879.1:c.-79C>A
- NM_001407882.1:c.-79C>A
- NM_001407884.1:c.-79C>A
- NM_001407885.1:c.-79C>A
- NM_001407886.1:c.-79C>A
- NM_001407887.1:c.-79C>A
- NM_001407889.1:c.-195C>A
- NM_001407894.1:c.-79C>A
- NM_001407895.1:c.-79C>A
- NM_001407896.1:c.-79C>A
- NM_001407897.1:c.-79C>A
- NM_001407899.1:c.-79C>A
- NM_001407900.1:c.-195C>A
- NM_001407904.1:c.-79C>A
- NM_001407906.1:c.-79C>A
- NM_001407907.1:c.-79C>A
- NM_001407908.1:c.-79C>A
- NM_001407909.1:c.-79C>A
- NM_001407910.1:c.-79C>A
- NM_001407915.1:c.-79C>A
- NM_001407916.1:c.-79C>A
- NM_001407917.1:c.-79C>A
- NM_001407918.1:c.-79C>A
- NM_001407919.1:c.110C>A
- NM_001407920.1:c.-32C>A
- NM_001407921.1:c.-32C>A
- NM_001407922.1:c.-32C>A
- NM_001407923.1:c.-32C>A
- NM_001407926.1:c.-32C>A
- NM_001407927.1:c.-32C>A
- NM_001407930.1:c.-148C>A
- NM_001407933.1:c.-32C>A
- NM_001407934.1:c.-32C>A
- NM_001407935.1:c.-32C>A
- NM_001407937.1:c.110C>A
- NM_001407938.1:c.110C>A
- NM_001407939.1:c.110C>A
- NM_001407940.1:c.110C>A
- NM_001407941.1:c.110C>A
- NM_001407942.1:c.-148C>A
- NM_001407943.1:c.-32C>A
- NM_001407944.1:c.-32C>A
- NM_001407946.1:c.-79C>A
- NM_001407947.1:c.-79C>A
- NM_001407948.1:c.-79C>A
- NM_001407949.1:c.-79C>A
- NM_001407950.1:c.-79C>A
- NM_001407951.1:c.-79C>A
- NM_001407952.1:c.-79C>A
- NM_001407953.1:c.-79C>A
- NM_001407954.1:c.-79C>A
- NM_001407955.1:c.-79C>A
- NM_001407956.1:c.-79C>A
- NM_001407957.1:c.-79C>A
- NM_001407958.1:c.-79C>A
- NM_001407960.1:c.-194C>A
- NM_001407962.1:c.-194C>A
- NM_001407964.1:c.-32C>A
- NM_001407965.1:c.-310C>A
- NM_001407968.1:c.110C>A
- NM_001407969.1:c.110C>A
- NM_001407970.1:c.110C>A
- NM_001407971.1:c.110C>A
- NM_001407972.1:c.110C>A
- NM_001407973.1:c.110C>A
- NM_001407974.1:c.110C>A
- NM_001407975.1:c.110C>A
- NM_001407976.1:c.110C>A
- NM_001407977.1:c.110C>A
- NM_001407978.1:c.110C>A
- NM_001407979.1:c.110C>A
- NM_001407980.1:c.110C>A
- NM_001407981.1:c.110C>A
- NM_001407982.1:c.110C>A
- NM_001407983.1:c.110C>A
- NM_001407984.1:c.110C>A
- NM_001407985.1:c.110C>A
- NM_001407986.1:c.110C>A
- NM_001407990.1:c.110C>A
- NM_001407991.1:c.110C>A
- NM_001407992.1:c.110C>A
- NM_001407993.1:c.110C>A
- NM_001408392.1:c.110C>A
- NM_001408396.1:c.110C>A
- NM_001408397.1:c.110C>A
- NM_001408398.1:c.110C>A
- NM_001408399.1:c.110C>A
- NM_001408400.1:c.110C>A
- NM_001408401.1:c.110C>A
- NM_001408402.1:c.110C>A
- NM_001408403.1:c.110C>A
- NM_001408404.1:c.110C>A
- NM_001408406.1:c.110C>A
- NM_001408407.1:c.110C>A
- NM_001408408.1:c.110C>A
- NM_001408409.1:c.110C>A
- NM_001408410.1:c.-32C>A
- NM_001408411.1:c.110C>A
- NM_001408412.1:c.110C>A
- NM_001408413.1:c.110C>A
- NM_001408414.1:c.110C>A
- NM_001408415.1:c.110C>A
- NM_001408416.1:c.110C>A
- NM_001408418.1:c.110C>A
- NM_001408419.1:c.110C>A
- NM_001408420.1:c.110C>A
- NM_001408421.1:c.110C>A
- NM_001408422.1:c.110C>A
- NM_001408423.1:c.110C>A
- NM_001408424.1:c.110C>A
- NM_001408425.1:c.110C>A
- NM_001408426.1:c.110C>A
- NM_001408427.1:c.110C>A
- NM_001408428.1:c.110C>A
- NM_001408429.1:c.110C>A
- NM_001408430.1:c.110C>A
- NM_001408431.1:c.110C>A
- NM_001408432.1:c.110C>A
- NM_001408433.1:c.110C>A
- NM_001408434.1:c.110C>A
- NM_001408435.1:c.110C>A
- NM_001408436.1:c.110C>A
- NM_001408437.1:c.110C>A
- NM_001408438.1:c.110C>A
- NM_001408439.1:c.110C>A
- NM_001408440.1:c.110C>A
- NM_001408441.1:c.110C>A
- NM_001408442.1:c.110C>A
- NM_001408443.1:c.110C>A
- NM_001408444.1:c.110C>A
- NM_001408445.1:c.110C>A
- NM_001408446.1:c.110C>A
- NM_001408447.1:c.110C>A
- NM_001408448.1:c.110C>A
- NM_001408450.1:c.110C>A
- NM_001408452.1:c.-32C>A
- NM_001408453.1:c.-32C>A
- NM_001408455.1:c.-148C>A
- NM_001408456.1:c.-148C>A
- NM_001408458.1:c.-32C>A
- NM_001408462.1:c.-32C>A
- NM_001408463.1:c.-32C>A
- NM_001408465.1:c.-152C>A
- NM_001408466.1:c.-32C>A
- NM_001408468.1:c.-148C>A
- NM_001408469.1:c.-32C>A
- NM_001408470.1:c.-32C>A
- NM_001408472.1:c.110C>A
- NM_001408473.1:c.110C>A
- NM_001408474.1:c.110C>A
- NM_001408475.1:c.110C>A
- NM_001408476.1:c.110C>A
- NM_001408478.1:c.-79C>A
- NM_001408479.1:c.-79C>A
- NM_001408480.1:c.-79C>A
- NM_001408481.1:c.-79C>A
- NM_001408482.1:c.-79C>A
- NM_001408483.1:c.-79C>A
- NM_001408484.1:c.-79C>A
- NM_001408485.1:c.-79C>A
- NM_001408489.1:c.-79C>A
- NM_001408490.1:c.-79C>A
- NM_001408491.1:c.-79C>A
- NM_001408492.1:c.-195C>A
- NM_001408493.1:c.-79C>A
- NM_001408494.1:c.110C>A
- NM_001408495.1:c.110C>A
- NM_001408497.1:c.-32C>A
- NM_001408499.1:c.-32C>A
- NM_001408500.1:c.-32C>A
- NM_001408501.1:c.-148C>A
- NM_001408502.1:c.-79C>A
- NM_001408503.1:c.-32C>A
- NM_001408504.1:c.-32C>A
- NM_001408505.1:c.-32C>A
- NM_001408506.1:c.-79C>A
- NM_001408507.1:c.-79C>A
- NM_001408508.1:c.-79C>A
- NM_001408509.1:c.-79C>A
- NM_001408510.1:c.-194C>A
- NM_001408512.1:c.-194C>A
- NM_001408513.1:c.-79C>A
- NM_001408514.1:c.-79C>A
- NM_007294.4:c.110C>AMANE SELECT
- NM_007297.4:c.-8+8267C>A
- NM_007298.4:c.110C>A
- NM_007299.4:c.110C>A
- NM_007300.4:c.110C>A
- NM_007304.2:c.110C>A
- NP_001394510.1:p.Thr37Lys
- NP_001394511.1:p.Thr37Lys
- NP_001394512.1:p.Thr37Lys
- NP_001394514.1:p.Thr37Lys
- NP_001394516.1:p.Thr37Lys
- NP_001394519.1:p.Thr37Lys
- NP_001394520.1:p.Thr37Lys
- NP_001394522.1:p.Thr37Lys
- NP_001394523.1:p.Thr37Lys
- NP_001394525.1:p.Thr37Lys
- NP_001394526.1:p.Thr37Lys
- NP_001394527.1:p.Thr37Lys
- NP_001394531.1:p.Thr37Lys
- NP_001394532.1:p.Thr37Lys
- NP_001394534.1:p.Thr37Lys
- NP_001394539.1:p.Thr37Lys
- NP_001394540.1:p.Thr37Lys
- NP_001394541.1:p.Thr37Lys
- NP_001394542.1:p.Thr37Lys
- NP_001394543.1:p.Thr37Lys
- NP_001394544.1:p.Thr37Lys
- NP_001394545.1:p.Thr37Lys
- NP_001394546.1:p.Thr37Lys
- NP_001394547.1:p.Thr37Lys
- NP_001394548.1:p.Thr37Lys
- NP_001394549.1:p.Thr37Lys
- NP_001394550.1:p.Thr37Lys
- NP_001394551.1:p.Thr37Lys
- NP_001394552.1:p.Thr37Lys
- NP_001394553.1:p.Thr37Lys
- NP_001394554.1:p.Thr37Lys
- NP_001394555.1:p.Thr37Lys
- NP_001394556.1:p.Thr37Lys
- NP_001394557.1:p.Thr37Lys
- NP_001394558.1:p.Thr37Lys
- NP_001394559.1:p.Thr37Lys
- NP_001394560.1:p.Thr37Lys
- NP_001394561.1:p.Thr37Lys
- NP_001394562.1:p.Thr37Lys
- NP_001394563.1:p.Thr37Lys
- NP_001394564.1:p.Thr37Lys
- NP_001394565.1:p.Thr37Lys
- NP_001394566.1:p.Thr37Lys
- NP_001394567.1:p.Thr37Lys
- NP_001394568.1:p.Thr37Lys
- NP_001394569.1:p.Thr37Lys
- NP_001394570.1:p.Thr37Lys
- NP_001394571.1:p.Thr37Lys
- NP_001394573.1:p.Thr37Lys
- NP_001394574.1:p.Thr37Lys
- NP_001394575.1:p.Thr37Lys
- NP_001394576.1:p.Thr37Lys
- NP_001394577.1:p.Thr37Lys
- NP_001394578.1:p.Thr37Lys
- NP_001394581.1:p.Thr37Lys
- NP_001394582.1:p.Thr37Lys
- NP_001394583.1:p.Thr37Lys
- NP_001394584.1:p.Thr37Lys
- NP_001394585.1:p.Thr37Lys
- NP_001394586.1:p.Thr37Lys
- NP_001394587.1:p.Thr37Lys
- NP_001394588.1:p.Thr37Lys
- NP_001394589.1:p.Thr37Lys
- NP_001394590.1:p.Thr37Lys
- NP_001394591.1:p.Thr37Lys
- NP_001394592.1:p.Thr37Lys
- NP_001394593.1:p.Thr37Lys
- NP_001394594.1:p.Thr37Lys
- NP_001394595.1:p.Thr37Lys
- NP_001394596.1:p.Thr37Lys
- NP_001394597.1:p.Thr37Lys
- NP_001394598.1:p.Thr37Lys
- NP_001394599.1:p.Thr37Lys
- NP_001394600.1:p.Thr37Lys
- NP_001394601.1:p.Thr37Lys
- NP_001394602.1:p.Thr37Lys
- NP_001394603.1:p.Thr37Lys
- NP_001394604.1:p.Thr37Lys
- NP_001394605.1:p.Thr37Lys
- NP_001394606.1:p.Thr37Lys
- NP_001394607.1:p.Thr37Lys
- NP_001394608.1:p.Thr37Lys
- NP_001394609.1:p.Thr37Lys
- NP_001394610.1:p.Thr37Lys
- NP_001394611.1:p.Thr37Lys
- NP_001394612.1:p.Thr37Lys
- NP_001394613.1:p.Thr37Lys
- NP_001394614.1:p.Thr37Lys
- NP_001394615.1:p.Thr37Lys
- NP_001394616.1:p.Thr37Lys
- NP_001394617.1:p.Thr37Lys
- NP_001394618.1:p.Thr37Lys
- NP_001394619.1:p.Thr37Lys
- NP_001394620.1:p.Thr37Lys
- NP_001394783.1:p.Thr37Lys
- NP_001394787.1:p.Thr37Lys
- NP_001394788.1:p.Thr37Lys
- NP_001394789.1:p.Thr37Lys
- NP_001394790.1:p.Thr37Lys
- NP_001394791.1:p.Thr37Lys
- NP_001394792.1:p.Thr37Lys
- NP_001394803.1:p.Thr37Lys
- NP_001394804.1:p.Thr37Lys
- NP_001394848.1:p.Thr37Lys
- NP_001394866.1:p.Thr37Lys
- NP_001394867.1:p.Thr37Lys
- NP_001394868.1:p.Thr37Lys
- NP_001394869.1:p.Thr37Lys
- NP_001394870.1:p.Thr37Lys
- NP_001394897.1:p.Thr37Lys
- NP_001394898.1:p.Thr37Lys
- NP_001394899.1:p.Thr37Lys
- NP_001394900.1:p.Thr37Lys
- NP_001394901.1:p.Thr37Lys
- NP_001394902.1:p.Thr37Lys
- NP_001394903.1:p.Thr37Lys
- NP_001394904.1:p.Thr37Lys
- NP_001394905.1:p.Thr37Lys
- NP_001394906.1:p.Thr37Lys
- NP_001394907.1:p.Thr37Lys
- NP_001394908.1:p.Thr37Lys
- NP_001394909.1:p.Thr37Lys
- NP_001394910.1:p.Thr37Lys
- NP_001394911.1:p.Thr37Lys
- NP_001394912.1:p.Thr37Lys
- NP_001394913.1:p.Thr37Lys
- NP_001394914.1:p.Thr37Lys
- NP_001394915.1:p.Thr37Lys
- NP_001394919.1:p.Thr37Lys
- NP_001394920.1:p.Thr37Lys
- NP_001394921.1:p.Thr37Lys
- NP_001394922.1:p.Thr37Lys
- NP_001395321.1:p.Thr37Lys
- NP_001395325.1:p.Thr37Lys
- NP_001395326.1:p.Thr37Lys
- NP_001395327.1:p.Thr37Lys
- NP_001395328.1:p.Thr37Lys
- NP_001395329.1:p.Thr37Lys
- NP_001395330.1:p.Thr37Lys
- NP_001395331.1:p.Thr37Lys
- NP_001395332.1:p.Thr37Lys
- NP_001395333.1:p.Thr37Lys
- NP_001395335.1:p.Thr37Lys
- NP_001395336.1:p.Thr37Lys
- NP_001395337.1:p.Thr37Lys
- NP_001395338.1:p.Thr37Lys
- NP_001395340.1:p.Thr37Lys
- NP_001395341.1:p.Thr37Lys
- NP_001395342.1:p.Thr37Lys
- NP_001395343.1:p.Thr37Lys
- NP_001395344.1:p.Thr37Lys
- NP_001395345.1:p.Thr37Lys
- NP_001395347.1:p.Thr37Lys
- NP_001395348.1:p.Thr37Lys
- NP_001395349.1:p.Thr37Lys
- NP_001395350.1:p.Thr37Lys
- NP_001395351.1:p.Thr37Lys
- NP_001395352.1:p.Thr37Lys
- NP_001395353.1:p.Thr37Lys
- NP_001395354.1:p.Thr37Lys
- NP_001395355.1:p.Thr37Lys
- NP_001395356.1:p.Thr37Lys
- NP_001395357.1:p.Thr37Lys
- NP_001395358.1:p.Thr37Lys
- NP_001395359.1:p.Thr37Lys
- NP_001395360.1:p.Thr37Lys
- NP_001395361.1:p.Thr37Lys
- NP_001395362.1:p.Thr37Lys
- NP_001395363.1:p.Thr37Lys
- NP_001395364.1:p.Thr37Lys
- NP_001395365.1:p.Thr37Lys
- NP_001395366.1:p.Thr37Lys
- NP_001395367.1:p.Thr37Lys
- NP_001395368.1:p.Thr37Lys
- NP_001395369.1:p.Thr37Lys
- NP_001395370.1:p.Thr37Lys
- NP_001395371.1:p.Thr37Lys
- NP_001395372.1:p.Thr37Lys
- NP_001395373.1:p.Thr37Lys
- NP_001395374.1:p.Thr37Lys
- NP_001395375.1:p.Thr37Lys
- NP_001395376.1:p.Thr37Lys
- NP_001395377.1:p.Thr37Lys
- NP_001395379.1:p.Thr37Lys
- NP_001395401.1:p.Thr37Lys
- NP_001395402.1:p.Thr37Lys
- NP_001395403.1:p.Thr37Lys
- NP_001395404.1:p.Thr37Lys
- NP_001395405.1:p.Thr37Lys
- NP_001395423.1:p.Thr37Lys
- NP_001395424.1:p.Thr37Lys
- NP_009225.1:p.Thr37Lys
- NP_009225.1:p.Thr37Lys
- NP_009229.2:p.Thr37Lys
- NP_009229.2:p.Thr37Lys
- NP_009230.2:p.Thr37Lys
- NP_009231.2:p.Thr37Lys
- NP_009235.2:p.Thr37Lys
- LRG_292t1:c.110C>A
- LRG_292:g.102234C>A
- LRG_292p1:p.Thr37Lys
- NC_000017.10:g.41267767G>T
- NM_007294.3:c.110C>A
- NM_007298.3:c.110C>A
- NR_027676.2:n.312C>A
- U14680.1:n.229C>A
This HGVS expression did not pass validation- Protein change:
- T37K
- Links:
- BRCA1-HCI: BRCA1_00112; dbSNP: rs80356880
- NCBI 1000 Genomes Browser:
- rs80356880
- Molecular consequence:
- NM_007297.4:c.-8+8267C>A - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.110C>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.312C>A - 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>A, 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
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VSIG8 V-set and immunoglobulin domain containing 8 [Homo sapiens]
VSIG8 V-set and immunoglobulin domain containing 8 [Homo sapiens]Gene ID:391123Gene
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Gene Links for GEO Profiles (Select 70812599) (1)
Gene
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Gene Links for GEO Profiles (Select 70821578) (1)
Gene
-
AIM2 absent in melanoma 2 [Homo sapiens]
AIM2 absent in melanoma 2 [Homo sapiens]Gene ID:9447Gene
-
Chromosome neighbors for GEO Profiles (Select 78949595) (20)
GEO Profiles
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001576113 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Likely pathogenic (Feb 18, 2022) | 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
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
Thouvenot P, Ben Yamin B, Fourrière L, Lescure A, Boudier T, Del Nery E, Chauchereau A, Goldgar DE, Houdayer C, Stoppa-Lyonnet D, Nicolas A, Millot GA.
PLoS Genet. 2016 Jun;12(6):e1006096. doi: 10.1371/journal.pgen.1006096.
- PMID:
- 27272900
- PMCID:
- PMC4894565
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Invitae, SCV001576113.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (7) |
Description
In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 25823446, 27272900, 30209399). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt BRCA1 protein function. This missense change has been observed in individual(s) with breast cancer (PMID: 19543972, 25823446, 28664506, 30564348). ClinVar contains an entry for this variant (Variation ID: 54131). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 37 of the BRCA1 protein (p.Thr37Lys). This variant is not present in population databases (gnomAD no frequency).
# | 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: Sep 8, 2024