NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 6, 2019
- 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:
- RCV000802596.9
Allele description [Variation Report for NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)]
NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)
- 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.132C>G (p.Cys44Trp)
- HGVS:
- NC_000017.11:g.43115728G>C
- NG_005905.2:g.102256C>G
- NM_001407571.1:c.-57C>G
- NM_001407581.1:c.132C>G
- NM_001407582.1:c.132C>G
- NM_001407583.1:c.132C>G
- NM_001407585.1:c.132C>G
- NM_001407587.1:c.132C>G
- NM_001407590.1:c.132C>G
- NM_001407591.1:c.132C>G
- NM_001407593.1:c.132C>G
- NM_001407594.1:c.132C>G
- NM_001407596.1:c.132C>G
- NM_001407597.1:c.132C>G
- NM_001407598.1:c.132C>G
- NM_001407602.1:c.132C>G
- NM_001407603.1:c.132C>G
- NM_001407605.1:c.132C>G
- NM_001407610.1:c.132C>G
- NM_001407611.1:c.132C>G
- NM_001407612.1:c.132C>G
- NM_001407613.1:c.132C>G
- NM_001407614.1:c.132C>G
- NM_001407615.1:c.132C>G
- NM_001407616.1:c.132C>G
- NM_001407617.1:c.132C>G
- NM_001407618.1:c.132C>G
- NM_001407619.1:c.132C>G
- NM_001407620.1:c.132C>G
- NM_001407621.1:c.132C>G
- NM_001407622.1:c.132C>G
- NM_001407623.1:c.132C>G
- NM_001407624.1:c.132C>G
- NM_001407625.1:c.132C>G
- NM_001407626.1:c.132C>G
- NM_001407627.1:c.132C>G
- NM_001407628.1:c.132C>G
- NM_001407629.1:c.132C>G
- NM_001407630.1:c.132C>G
- NM_001407631.1:c.132C>G
- NM_001407632.1:c.132C>G
- NM_001407633.1:c.132C>G
- NM_001407634.1:c.132C>G
- NM_001407635.1:c.132C>G
- NM_001407636.1:c.132C>G
- NM_001407637.1:c.132C>G
- NM_001407638.1:c.132C>G
- NM_001407639.1:c.132C>G
- NM_001407640.1:c.132C>G
- NM_001407641.1:c.132C>G
- NM_001407642.1:c.132C>G
- NM_001407644.1:c.132C>G
- NM_001407645.1:c.132C>G
- NM_001407646.1:c.132C>G
- NM_001407647.1:c.132C>G
- NM_001407648.1:c.132C>G
- NM_001407649.1:c.132C>G
- NM_001407652.1:c.132C>G
- NM_001407653.1:c.132C>G
- NM_001407654.1:c.132C>G
- NM_001407655.1:c.132C>G
- NM_001407656.1:c.132C>G
- NM_001407657.1:c.132C>G
- NM_001407658.1:c.132C>G
- NM_001407659.1:c.132C>G
- NM_001407660.1:c.132C>G
- NM_001407661.1:c.132C>G
- NM_001407662.1:c.132C>G
- NM_001407663.1:c.132C>G
- NM_001407664.1:c.132C>G
- NM_001407665.1:c.132C>G
- NM_001407666.1:c.132C>G
- NM_001407667.1:c.132C>G
- NM_001407668.1:c.132C>G
- NM_001407669.1:c.132C>G
- NM_001407670.1:c.132C>G
- NM_001407671.1:c.132C>G
- NM_001407672.1:c.132C>G
- NM_001407673.1:c.132C>G
- NM_001407674.1:c.132C>G
- NM_001407675.1:c.132C>G
- NM_001407676.1:c.132C>G
- NM_001407677.1:c.132C>G
- NM_001407678.1:c.132C>G
- NM_001407679.1:c.132C>G
- NM_001407680.1:c.132C>G
- NM_001407681.1:c.132C>G
- NM_001407682.1:c.132C>G
- NM_001407683.1:c.132C>G
- NM_001407684.1:c.132C>G
- NM_001407685.1:c.132C>G
- NM_001407686.1:c.132C>G
- NM_001407687.1:c.132C>G
- NM_001407688.1:c.132C>G
- NM_001407689.1:c.132C>G
- NM_001407690.1:c.132C>G
- NM_001407691.1:c.132C>G
- NM_001407694.1:c.-126C>G
- NM_001407695.1:c.-130C>G
- NM_001407696.1:c.-126C>G
- NM_001407697.1:c.-10C>G
- NM_001407724.1:c.-126C>G
- NM_001407725.1:c.-10C>G
- NM_001407727.1:c.-126C>G
- NM_001407728.1:c.-10C>G
- NM_001407729.1:c.-10C>G
- NM_001407730.1:c.-10C>G
- NM_001407731.1:c.-126C>G
- NM_001407733.1:c.-126C>G
- NM_001407734.1:c.-10C>G
- NM_001407735.1:c.-10C>G
- NM_001407737.1:c.-10C>G
- NM_001407739.1:c.-10C>G
- NM_001407740.1:c.-10C>G
- NM_001407741.1:c.-10C>G
- NM_001407743.1:c.-10C>G
- NM_001407745.1:c.-10C>G
- NM_001407746.1:c.-126C>G
- NM_001407748.1:c.-10C>G
- NM_001407749.1:c.-126C>G
- NM_001407752.1:c.-10C>G
- NM_001407838.1:c.-10C>G
- NM_001407839.1:c.-10C>G
- NM_001407842.1:c.-126C>G
- NM_001407843.1:c.-126C>G
- NM_001407844.1:c.-10C>G
- NM_001407846.1:c.-10C>G
- NM_001407847.1:c.-10C>G
- NM_001407848.1:c.-10C>G
- NM_001407850.1:c.-10C>G
- NM_001407851.1:c.-10C>G
- NM_001407853.1:c.-57C>G
- NM_001407854.1:c.132C>G
- NM_001407858.1:c.132C>G
- NM_001407859.1:c.132C>G
- NM_001407860.1:c.132C>G
- NM_001407861.1:c.132C>G
- NM_001407862.1:c.132C>G
- NM_001407863.1:c.132C>G
- NM_001407874.1:c.132C>G
- NM_001407875.1:c.132C>G
- NM_001407879.1:c.-57C>G
- NM_001407882.1:c.-57C>G
- NM_001407884.1:c.-57C>G
- NM_001407885.1:c.-57C>G
- NM_001407886.1:c.-57C>G
- NM_001407887.1:c.-57C>G
- NM_001407889.1:c.-173C>G
- NM_001407894.1:c.-57C>G
- NM_001407895.1:c.-57C>G
- NM_001407896.1:c.-57C>G
- NM_001407897.1:c.-57C>G
- NM_001407899.1:c.-57C>G
- NM_001407900.1:c.-173C>G
- NM_001407904.1:c.-57C>G
- NM_001407906.1:c.-57C>G
- NM_001407907.1:c.-57C>G
- NM_001407908.1:c.-57C>G
- NM_001407909.1:c.-57C>G
- NM_001407910.1:c.-57C>G
- NM_001407915.1:c.-57C>G
- NM_001407916.1:c.-57C>G
- NM_001407917.1:c.-57C>G
- NM_001407918.1:c.-57C>G
- NM_001407919.1:c.132C>G
- NM_001407920.1:c.-10C>G
- NM_001407921.1:c.-10C>G
- NM_001407922.1:c.-10C>G
- NM_001407923.1:c.-10C>G
- NM_001407926.1:c.-10C>G
- NM_001407927.1:c.-10C>G
- NM_001407930.1:c.-126C>G
- NM_001407933.1:c.-10C>G
- NM_001407934.1:c.-10C>G
- NM_001407935.1:c.-10C>G
- NM_001407937.1:c.132C>G
- NM_001407938.1:c.132C>G
- NM_001407939.1:c.132C>G
- NM_001407940.1:c.132C>G
- NM_001407941.1:c.132C>G
- NM_001407942.1:c.-126C>G
- NM_001407943.1:c.-10C>G
- NM_001407944.1:c.-10C>G
- NM_001407946.1:c.-57C>G
- NM_001407947.1:c.-57C>G
- NM_001407948.1:c.-57C>G
- NM_001407949.1:c.-57C>G
- NM_001407950.1:c.-57C>G
- NM_001407951.1:c.-57C>G
- NM_001407952.1:c.-57C>G
- NM_001407953.1:c.-57C>G
- NM_001407954.1:c.-57C>G
- NM_001407955.1:c.-57C>G
- NM_001407956.1:c.-57C>G
- NM_001407957.1:c.-57C>G
- NM_001407958.1:c.-57C>G
- NM_001407960.1:c.-172C>G
- NM_001407962.1:c.-172C>G
- NM_001407964.1:c.-10C>G
- NM_001407965.1:c.-288C>G
- NM_001407968.1:c.132C>G
- NM_001407969.1:c.132C>G
- NM_001407970.1:c.132C>G
- NM_001407971.1:c.132C>G
- NM_001407972.1:c.132C>G
- NM_001407973.1:c.132C>G
- NM_001407974.1:c.132C>G
- NM_001407975.1:c.132C>G
- NM_001407976.1:c.132C>G
- NM_001407977.1:c.132C>G
- NM_001407978.1:c.132C>G
- NM_001407979.1:c.132C>G
- NM_001407980.1:c.132C>G
- NM_001407981.1:c.132C>G
- NM_001407982.1:c.132C>G
- NM_001407983.1:c.132C>G
- NM_001407984.1:c.132C>G
- NM_001407985.1:c.132C>G
- NM_001407986.1:c.132C>G
- NM_001407990.1:c.132C>G
- NM_001407991.1:c.132C>G
- NM_001407992.1:c.132C>G
- NM_001407993.1:c.132C>G
- NM_001408392.1:c.132C>G
- NM_001408396.1:c.132C>G
- NM_001408397.1:c.132C>G
- NM_001408398.1:c.132C>G
- NM_001408399.1:c.132C>G
- NM_001408400.1:c.132C>G
- NM_001408401.1:c.132C>G
- NM_001408402.1:c.132C>G
- NM_001408403.1:c.132C>G
- NM_001408404.1:c.132C>G
- NM_001408406.1:c.132C>G
- NM_001408407.1:c.132C>G
- NM_001408408.1:c.132C>G
- NM_001408409.1:c.132C>G
- NM_001408410.1:c.-10C>G
- NM_001408411.1:c.132C>G
- NM_001408412.1:c.132C>G
- NM_001408413.1:c.132C>G
- NM_001408414.1:c.132C>G
- NM_001408415.1:c.132C>G
- NM_001408416.1:c.132C>G
- NM_001408418.1:c.132C>G
- NM_001408419.1:c.132C>G
- NM_001408420.1:c.132C>G
- NM_001408421.1:c.132C>G
- NM_001408422.1:c.132C>G
- NM_001408423.1:c.132C>G
- NM_001408424.1:c.132C>G
- NM_001408425.1:c.132C>G
- NM_001408426.1:c.132C>G
- NM_001408427.1:c.132C>G
- NM_001408428.1:c.132C>G
- NM_001408429.1:c.132C>G
- NM_001408430.1:c.132C>G
- NM_001408431.1:c.132C>G
- NM_001408432.1:c.132C>G
- NM_001408433.1:c.132C>G
- NM_001408434.1:c.132C>G
- NM_001408435.1:c.132C>G
- NM_001408436.1:c.132C>G
- NM_001408437.1:c.132C>G
- NM_001408438.1:c.132C>G
- NM_001408439.1:c.132C>G
- NM_001408440.1:c.132C>G
- NM_001408441.1:c.132C>G
- NM_001408442.1:c.132C>G
- NM_001408443.1:c.132C>G
- NM_001408444.1:c.132C>G
- NM_001408445.1:c.132C>G
- NM_001408446.1:c.132C>G
- NM_001408447.1:c.132C>G
- NM_001408448.1:c.132C>G
- NM_001408450.1:c.132C>G
- NM_001408452.1:c.-10C>G
- NM_001408453.1:c.-10C>G
- NM_001408455.1:c.-126C>G
- NM_001408456.1:c.-126C>G
- NM_001408458.1:c.-10C>G
- NM_001408462.1:c.-10C>G
- NM_001408463.1:c.-10C>G
- NM_001408465.1:c.-130C>G
- NM_001408466.1:c.-10C>G
- NM_001408468.1:c.-126C>G
- NM_001408469.1:c.-10C>G
- NM_001408470.1:c.-10C>G
- NM_001408472.1:c.132C>G
- NM_001408473.1:c.132C>G
- NM_001408474.1:c.132C>G
- NM_001408475.1:c.132C>G
- NM_001408476.1:c.132C>G
- NM_001408478.1:c.-57C>G
- NM_001408479.1:c.-57C>G
- NM_001408480.1:c.-57C>G
- NM_001408481.1:c.-57C>G
- NM_001408482.1:c.-57C>G
- NM_001408483.1:c.-57C>G
- NM_001408484.1:c.-57C>G
- NM_001408485.1:c.-57C>G
- NM_001408489.1:c.-57C>G
- NM_001408490.1:c.-57C>G
- NM_001408491.1:c.-57C>G
- NM_001408492.1:c.-173C>G
- NM_001408493.1:c.-57C>G
- NM_001408494.1:c.132C>G
- NM_001408495.1:c.132C>G
- NM_001408497.1:c.-10C>G
- NM_001408499.1:c.-10C>G
- NM_001408500.1:c.-10C>G
- NM_001408501.1:c.-126C>G
- NM_001408502.1:c.-57C>G
- NM_001408503.1:c.-10C>G
- NM_001408504.1:c.-10C>G
- NM_001408505.1:c.-10C>G
- NM_001408506.1:c.-57C>G
- NM_001408507.1:c.-57C>G
- NM_001408508.1:c.-57C>G
- NM_001408509.1:c.-57C>G
- NM_001408510.1:c.-172C>G
- NM_001408512.1:c.-172C>G
- NM_001408513.1:c.-57C>G
- NM_001408514.1:c.-57C>G
- NM_007294.4:c.132C>GMANE SELECT
- NM_007297.4:c.-8+8289C>G
- NM_007298.4:c.132C>G
- NM_007299.4:c.132C>G
- NM_007300.4:c.132C>G
- NM_007304.2:c.132C>G
- NP_001394510.1:p.Cys44Trp
- NP_001394511.1:p.Cys44Trp
- NP_001394512.1:p.Cys44Trp
- NP_001394514.1:p.Cys44Trp
- NP_001394516.1:p.Cys44Trp
- NP_001394519.1:p.Cys44Trp
- NP_001394520.1:p.Cys44Trp
- NP_001394522.1:p.Cys44Trp
- NP_001394523.1:p.Cys44Trp
- NP_001394525.1:p.Cys44Trp
- NP_001394526.1:p.Cys44Trp
- NP_001394527.1:p.Cys44Trp
- NP_001394531.1:p.Cys44Trp
- NP_001394532.1:p.Cys44Trp
- NP_001394534.1:p.Cys44Trp
- NP_001394539.1:p.Cys44Trp
- NP_001394540.1:p.Cys44Trp
- NP_001394541.1:p.Cys44Trp
- NP_001394542.1:p.Cys44Trp
- NP_001394543.1:p.Cys44Trp
- NP_001394544.1:p.Cys44Trp
- NP_001394545.1:p.Cys44Trp
- NP_001394546.1:p.Cys44Trp
- NP_001394547.1:p.Cys44Trp
- NP_001394548.1:p.Cys44Trp
- NP_001394549.1:p.Cys44Trp
- NP_001394550.1:p.Cys44Trp
- NP_001394551.1:p.Cys44Trp
- NP_001394552.1:p.Cys44Trp
- NP_001394553.1:p.Cys44Trp
- NP_001394554.1:p.Cys44Trp
- NP_001394555.1:p.Cys44Trp
- NP_001394556.1:p.Cys44Trp
- NP_001394557.1:p.Cys44Trp
- NP_001394558.1:p.Cys44Trp
- NP_001394559.1:p.Cys44Trp
- NP_001394560.1:p.Cys44Trp
- NP_001394561.1:p.Cys44Trp
- NP_001394562.1:p.Cys44Trp
- NP_001394563.1:p.Cys44Trp
- NP_001394564.1:p.Cys44Trp
- NP_001394565.1:p.Cys44Trp
- NP_001394566.1:p.Cys44Trp
- NP_001394567.1:p.Cys44Trp
- NP_001394568.1:p.Cys44Trp
- NP_001394569.1:p.Cys44Trp
- NP_001394570.1:p.Cys44Trp
- NP_001394571.1:p.Cys44Trp
- NP_001394573.1:p.Cys44Trp
- NP_001394574.1:p.Cys44Trp
- NP_001394575.1:p.Cys44Trp
- NP_001394576.1:p.Cys44Trp
- NP_001394577.1:p.Cys44Trp
- NP_001394578.1:p.Cys44Trp
- NP_001394581.1:p.Cys44Trp
- NP_001394582.1:p.Cys44Trp
- NP_001394583.1:p.Cys44Trp
- NP_001394584.1:p.Cys44Trp
- NP_001394585.1:p.Cys44Trp
- NP_001394586.1:p.Cys44Trp
- NP_001394587.1:p.Cys44Trp
- NP_001394588.1:p.Cys44Trp
- NP_001394589.1:p.Cys44Trp
- NP_001394590.1:p.Cys44Trp
- NP_001394591.1:p.Cys44Trp
- NP_001394592.1:p.Cys44Trp
- NP_001394593.1:p.Cys44Trp
- NP_001394594.1:p.Cys44Trp
- NP_001394595.1:p.Cys44Trp
- NP_001394596.1:p.Cys44Trp
- NP_001394597.1:p.Cys44Trp
- NP_001394598.1:p.Cys44Trp
- NP_001394599.1:p.Cys44Trp
- NP_001394600.1:p.Cys44Trp
- NP_001394601.1:p.Cys44Trp
- NP_001394602.1:p.Cys44Trp
- NP_001394603.1:p.Cys44Trp
- NP_001394604.1:p.Cys44Trp
- NP_001394605.1:p.Cys44Trp
- NP_001394606.1:p.Cys44Trp
- NP_001394607.1:p.Cys44Trp
- NP_001394608.1:p.Cys44Trp
- NP_001394609.1:p.Cys44Trp
- NP_001394610.1:p.Cys44Trp
- NP_001394611.1:p.Cys44Trp
- NP_001394612.1:p.Cys44Trp
- NP_001394613.1:p.Cys44Trp
- NP_001394614.1:p.Cys44Trp
- NP_001394615.1:p.Cys44Trp
- NP_001394616.1:p.Cys44Trp
- NP_001394617.1:p.Cys44Trp
- NP_001394618.1:p.Cys44Trp
- NP_001394619.1:p.Cys44Trp
- NP_001394620.1:p.Cys44Trp
- NP_001394783.1:p.Cys44Trp
- NP_001394787.1:p.Cys44Trp
- NP_001394788.1:p.Cys44Trp
- NP_001394789.1:p.Cys44Trp
- NP_001394790.1:p.Cys44Trp
- NP_001394791.1:p.Cys44Trp
- NP_001394792.1:p.Cys44Trp
- NP_001394803.1:p.Cys44Trp
- NP_001394804.1:p.Cys44Trp
- NP_001394848.1:p.Cys44Trp
- NP_001394866.1:p.Cys44Trp
- NP_001394867.1:p.Cys44Trp
- NP_001394868.1:p.Cys44Trp
- NP_001394869.1:p.Cys44Trp
- NP_001394870.1:p.Cys44Trp
- NP_001394897.1:p.Cys44Trp
- NP_001394898.1:p.Cys44Trp
- NP_001394899.1:p.Cys44Trp
- NP_001394900.1:p.Cys44Trp
- NP_001394901.1:p.Cys44Trp
- NP_001394902.1:p.Cys44Trp
- NP_001394903.1:p.Cys44Trp
- NP_001394904.1:p.Cys44Trp
- NP_001394905.1:p.Cys44Trp
- NP_001394906.1:p.Cys44Trp
- NP_001394907.1:p.Cys44Trp
- NP_001394908.1:p.Cys44Trp
- NP_001394909.1:p.Cys44Trp
- NP_001394910.1:p.Cys44Trp
- NP_001394911.1:p.Cys44Trp
- NP_001394912.1:p.Cys44Trp
- NP_001394913.1:p.Cys44Trp
- NP_001394914.1:p.Cys44Trp
- NP_001394915.1:p.Cys44Trp
- NP_001394919.1:p.Cys44Trp
- NP_001394920.1:p.Cys44Trp
- NP_001394921.1:p.Cys44Trp
- NP_001394922.1:p.Cys44Trp
- NP_001395321.1:p.Cys44Trp
- NP_001395325.1:p.Cys44Trp
- NP_001395326.1:p.Cys44Trp
- NP_001395327.1:p.Cys44Trp
- NP_001395328.1:p.Cys44Trp
- NP_001395329.1:p.Cys44Trp
- NP_001395330.1:p.Cys44Trp
- NP_001395331.1:p.Cys44Trp
- NP_001395332.1:p.Cys44Trp
- NP_001395333.1:p.Cys44Trp
- NP_001395335.1:p.Cys44Trp
- NP_001395336.1:p.Cys44Trp
- NP_001395337.1:p.Cys44Trp
- NP_001395338.1:p.Cys44Trp
- NP_001395340.1:p.Cys44Trp
- NP_001395341.1:p.Cys44Trp
- NP_001395342.1:p.Cys44Trp
- NP_001395343.1:p.Cys44Trp
- NP_001395344.1:p.Cys44Trp
- NP_001395345.1:p.Cys44Trp
- NP_001395347.1:p.Cys44Trp
- NP_001395348.1:p.Cys44Trp
- NP_001395349.1:p.Cys44Trp
- NP_001395350.1:p.Cys44Trp
- NP_001395351.1:p.Cys44Trp
- NP_001395352.1:p.Cys44Trp
- NP_001395353.1:p.Cys44Trp
- NP_001395354.1:p.Cys44Trp
- NP_001395355.1:p.Cys44Trp
- NP_001395356.1:p.Cys44Trp
- NP_001395357.1:p.Cys44Trp
- NP_001395358.1:p.Cys44Trp
- NP_001395359.1:p.Cys44Trp
- NP_001395360.1:p.Cys44Trp
- NP_001395361.1:p.Cys44Trp
- NP_001395362.1:p.Cys44Trp
- NP_001395363.1:p.Cys44Trp
- NP_001395364.1:p.Cys44Trp
- NP_001395365.1:p.Cys44Trp
- NP_001395366.1:p.Cys44Trp
- NP_001395367.1:p.Cys44Trp
- NP_001395368.1:p.Cys44Trp
- NP_001395369.1:p.Cys44Trp
- NP_001395370.1:p.Cys44Trp
- NP_001395371.1:p.Cys44Trp
- NP_001395372.1:p.Cys44Trp
- NP_001395373.1:p.Cys44Trp
- NP_001395374.1:p.Cys44Trp
- NP_001395375.1:p.Cys44Trp
- NP_001395376.1:p.Cys44Trp
- NP_001395377.1:p.Cys44Trp
- NP_001395379.1:p.Cys44Trp
- NP_001395401.1:p.Cys44Trp
- NP_001395402.1:p.Cys44Trp
- NP_001395403.1:p.Cys44Trp
- NP_001395404.1:p.Cys44Trp
- NP_001395405.1:p.Cys44Trp
- NP_001395423.1:p.Cys44Trp
- NP_001395424.1:p.Cys44Trp
- NP_009225.1:p.Cys44Trp
- NP_009225.1:p.Cys44Trp
- NP_009229.2:p.Cys44Trp
- NP_009229.2:p.Cys44Trp
- NP_009230.2:p.Cys44Trp
- NP_009231.2:p.Cys44Trp
- NP_009235.2:p.Cys44Trp
- LRG_292t1:c.132C>G
- LRG_292:g.102256C>G
- LRG_292p1:p.Cys44Trp
- NC_000017.10:g.41267745G>C
- NM_007294.3:c.132C>G
- NM_007298.3:c.132C>G
- NR_027676.2:n.334C>G
This HGVS expression did not pass validation- Protein change:
- C44W
- Links:
- dbSNP: rs876658362
- NCBI 1000 Genomes Browser:
- rs876658362
- Molecular consequence:
- NM_007297.4:c.-8+8289C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.132C>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.334C>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.132C>G, a MISSENSE variant, produced a function score of -2.31, 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
-
sperm-associated antigen 17 isoform X6 [Homo sapiens]
sperm-associated antigen 17 isoform X6 [Homo sapiens]gi|2462505801|ref|XP_054190936.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000942433 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Likely pathogenic (Mar 6, 2019) | 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
Characterization of BRCA1 ring finger variants of uncertain significance.
Sweet K, Senter L, Pilarski R, Wei L, Toland AE.
Breast Cancer Res Treat. 2010 Feb;119(3):737-43. doi: 10.1007/s10549-009-0438-6. Epub 2009 Jun 20.
- PMID:
- 19543972
- PMCID:
- PMC4283813
Seifert BA, O'Daniel JM, Amin K, Marchuk DS, Patel NM, Parker JS, Hoyle AP, Mose LE, Marron A, Hayward MC, Bizon C, Wilhelmsen KC, Evans JP, Earp HS 3rd, Sharpless NE, Hayes DN, Berg JS.
Clin Cancer Res. 2016 Aug 15;22(16):4087-4094. doi: 10.1158/1078-0432.CCR-16-0015. Epub 2016 Apr 15.
- PMID:
- 27083775
- PMCID:
- PMC4987173
Details of each submission
From Invitae, SCV000942433.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (11) |
Description
This variant disrupts the p.Cys44 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19543972, 27083775, 21922593, 25823446, 23633455, 18159056, 25777348, 16267036, 30209399). This suggests that this residue is clinically-significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with BRCA1-related disease. 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. This variant affects the highly conserved Cys44 residue within the N-terminal RING domain of the BRCA1 protein (PMID: 22843421). This variant has been reported to affect BRCA1 protein function (PMID: 30209399). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tryptophan at codon 44 of the BRCA1 protein (p.Cys44Trp). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tryptophan.
# | 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