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NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly) AND Familial cancer of breast

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000577478.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly)]

NM_007294.4(BRCA1):c.130T>G (p.Cys44Gly)

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.130T>G (p.Cys44Gly)
HGVS:
  • NC_000017.11:g.43115730A>C
  • NG_005905.2:g.102254T>G
  • NM_001407571.1:c.-59T>G
  • NM_001407581.1:c.130T>G
  • NM_001407582.1:c.130T>G
  • NM_001407583.1:c.130T>G
  • NM_001407585.1:c.130T>G
  • NM_001407587.1:c.130T>G
  • NM_001407590.1:c.130T>G
  • NM_001407591.1:c.130T>G
  • NM_001407593.1:c.130T>G
  • NM_001407594.1:c.130T>G
  • NM_001407596.1:c.130T>G
  • NM_001407597.1:c.130T>G
  • NM_001407598.1:c.130T>G
  • NM_001407602.1:c.130T>G
  • NM_001407603.1:c.130T>G
  • NM_001407605.1:c.130T>G
  • NM_001407610.1:c.130T>G
  • NM_001407611.1:c.130T>G
  • NM_001407612.1:c.130T>G
  • NM_001407613.1:c.130T>G
  • NM_001407614.1:c.130T>G
  • NM_001407615.1:c.130T>G
  • NM_001407616.1:c.130T>G
  • NM_001407617.1:c.130T>G
  • NM_001407618.1:c.130T>G
  • NM_001407619.1:c.130T>G
  • NM_001407620.1:c.130T>G
  • NM_001407621.1:c.130T>G
  • NM_001407622.1:c.130T>G
  • NM_001407623.1:c.130T>G
  • NM_001407624.1:c.130T>G
  • NM_001407625.1:c.130T>G
  • NM_001407626.1:c.130T>G
  • NM_001407627.1:c.130T>G
  • NM_001407628.1:c.130T>G
  • NM_001407629.1:c.130T>G
  • NM_001407630.1:c.130T>G
  • NM_001407631.1:c.130T>G
  • NM_001407632.1:c.130T>G
  • NM_001407633.1:c.130T>G
  • NM_001407634.1:c.130T>G
  • NM_001407635.1:c.130T>G
  • NM_001407636.1:c.130T>G
  • NM_001407637.1:c.130T>G
  • NM_001407638.1:c.130T>G
  • NM_001407639.1:c.130T>G
  • NM_001407640.1:c.130T>G
  • NM_001407641.1:c.130T>G
  • NM_001407642.1:c.130T>G
  • NM_001407644.1:c.130T>G
  • NM_001407645.1:c.130T>G
  • NM_001407646.1:c.130T>G
  • NM_001407647.1:c.130T>G
  • NM_001407648.1:c.130T>G
  • NM_001407649.1:c.130T>G
  • NM_001407652.1:c.130T>G
  • NM_001407653.1:c.130T>G
  • NM_001407654.1:c.130T>G
  • NM_001407655.1:c.130T>G
  • NM_001407656.1:c.130T>G
  • NM_001407657.1:c.130T>G
  • NM_001407658.1:c.130T>G
  • NM_001407659.1:c.130T>G
  • NM_001407660.1:c.130T>G
  • NM_001407661.1:c.130T>G
  • NM_001407662.1:c.130T>G
  • NM_001407663.1:c.130T>G
  • NM_001407664.1:c.130T>G
  • NM_001407665.1:c.130T>G
  • NM_001407666.1:c.130T>G
  • NM_001407667.1:c.130T>G
  • NM_001407668.1:c.130T>G
  • NM_001407669.1:c.130T>G
  • NM_001407670.1:c.130T>G
  • NM_001407671.1:c.130T>G
  • NM_001407672.1:c.130T>G
  • NM_001407673.1:c.130T>G
  • NM_001407674.1:c.130T>G
  • NM_001407675.1:c.130T>G
  • NM_001407676.1:c.130T>G
  • NM_001407677.1:c.130T>G
  • NM_001407678.1:c.130T>G
  • NM_001407679.1:c.130T>G
  • NM_001407680.1:c.130T>G
  • NM_001407681.1:c.130T>G
  • NM_001407682.1:c.130T>G
  • NM_001407683.1:c.130T>G
  • NM_001407684.1:c.130T>G
  • NM_001407685.1:c.130T>G
  • NM_001407686.1:c.130T>G
  • NM_001407687.1:c.130T>G
  • NM_001407688.1:c.130T>G
  • NM_001407689.1:c.130T>G
  • NM_001407690.1:c.130T>G
  • NM_001407691.1:c.130T>G
  • NM_001407694.1:c.-128T>G
  • NM_001407695.1:c.-132T>G
  • NM_001407696.1:c.-128T>G
  • NM_001407697.1:c.-12T>G
  • NM_001407724.1:c.-128T>G
  • NM_001407725.1:c.-12T>G
  • NM_001407727.1:c.-128T>G
  • NM_001407728.1:c.-12T>G
  • NM_001407729.1:c.-12T>G
  • NM_001407730.1:c.-12T>G
  • NM_001407731.1:c.-128T>G
  • NM_001407733.1:c.-128T>G
  • NM_001407734.1:c.-12T>G
  • NM_001407735.1:c.-12T>G
  • NM_001407737.1:c.-12T>G
  • NM_001407739.1:c.-12T>G
  • NM_001407740.1:c.-12T>G
  • NM_001407741.1:c.-12T>G
  • NM_001407743.1:c.-12T>G
  • NM_001407745.1:c.-12T>G
  • NM_001407746.1:c.-128T>G
  • NM_001407748.1:c.-12T>G
  • NM_001407749.1:c.-128T>G
  • NM_001407752.1:c.-12T>G
  • NM_001407838.1:c.-12T>G
  • NM_001407839.1:c.-12T>G
  • NM_001407841.1:c.-8T>G
  • NM_001407842.1:c.-128T>G
  • NM_001407843.1:c.-128T>G
  • NM_001407844.1:c.-12T>G
  • NM_001407846.1:c.-12T>G
  • NM_001407847.1:c.-12T>G
  • NM_001407848.1:c.-12T>G
  • NM_001407850.1:c.-12T>G
  • NM_001407851.1:c.-12T>G
  • NM_001407853.1:c.-59T>G
  • NM_001407854.1:c.130T>G
  • NM_001407858.1:c.130T>G
  • NM_001407859.1:c.130T>G
  • NM_001407860.1:c.130T>G
  • NM_001407861.1:c.130T>G
  • NM_001407862.1:c.130T>G
  • NM_001407863.1:c.130T>G
  • NM_001407874.1:c.130T>G
  • NM_001407875.1:c.130T>G
  • NM_001407879.1:c.-59T>G
  • NM_001407882.1:c.-59T>G
  • NM_001407884.1:c.-59T>G
  • NM_001407885.1:c.-59T>G
  • NM_001407886.1:c.-59T>G
  • NM_001407887.1:c.-59T>G
  • NM_001407889.1:c.-175T>G
  • NM_001407894.1:c.-59T>G
  • NM_001407895.1:c.-59T>G
  • NM_001407896.1:c.-59T>G
  • NM_001407897.1:c.-59T>G
  • NM_001407899.1:c.-59T>G
  • NM_001407900.1:c.-175T>G
  • NM_001407904.1:c.-59T>G
  • NM_001407906.1:c.-59T>G
  • NM_001407907.1:c.-59T>G
  • NM_001407908.1:c.-59T>G
  • NM_001407909.1:c.-59T>G
  • NM_001407910.1:c.-59T>G
  • NM_001407915.1:c.-59T>G
  • NM_001407916.1:c.-59T>G
  • NM_001407917.1:c.-59T>G
  • NM_001407918.1:c.-59T>G
  • NM_001407919.1:c.130T>G
  • NM_001407920.1:c.-12T>G
  • NM_001407921.1:c.-12T>G
  • NM_001407922.1:c.-12T>G
  • NM_001407923.1:c.-12T>G
  • NM_001407926.1:c.-12T>G
  • NM_001407927.1:c.-12T>G
  • NM_001407930.1:c.-128T>G
  • NM_001407933.1:c.-12T>G
  • NM_001407934.1:c.-12T>G
  • NM_001407935.1:c.-12T>G
  • NM_001407937.1:c.130T>G
  • NM_001407938.1:c.130T>G
  • NM_001407939.1:c.130T>G
  • NM_001407940.1:c.130T>G
  • NM_001407941.1:c.130T>G
  • NM_001407942.1:c.-128T>G
  • NM_001407943.1:c.-12T>G
  • NM_001407944.1:c.-12T>G
  • NM_001407946.1:c.-59T>G
  • NM_001407947.1:c.-59T>G
  • NM_001407948.1:c.-59T>G
  • NM_001407949.1:c.-59T>G
  • NM_001407950.1:c.-59T>G
  • NM_001407951.1:c.-59T>G
  • NM_001407952.1:c.-59T>G
  • NM_001407953.1:c.-59T>G
  • NM_001407954.1:c.-59T>G
  • NM_001407955.1:c.-59T>G
  • NM_001407956.1:c.-59T>G
  • NM_001407957.1:c.-59T>G
  • NM_001407958.1:c.-59T>G
  • NM_001407960.1:c.-174T>G
  • NM_001407962.1:c.-174T>G
  • NM_001407964.1:c.-12T>G
  • NM_001407965.1:c.-290T>G
  • NM_001407968.1:c.130T>G
  • NM_001407969.1:c.130T>G
  • NM_001407970.1:c.130T>G
  • NM_001407971.1:c.130T>G
  • NM_001407972.1:c.130T>G
  • NM_001407973.1:c.130T>G
  • NM_001407974.1:c.130T>G
  • NM_001407975.1:c.130T>G
  • NM_001407976.1:c.130T>G
  • NM_001407977.1:c.130T>G
  • NM_001407978.1:c.130T>G
  • NM_001407979.1:c.130T>G
  • NM_001407980.1:c.130T>G
  • NM_001407981.1:c.130T>G
  • NM_001407982.1:c.130T>G
  • NM_001407983.1:c.130T>G
  • NM_001407984.1:c.130T>G
  • NM_001407985.1:c.130T>G
  • NM_001407986.1:c.130T>G
  • NM_001407990.1:c.130T>G
  • NM_001407991.1:c.130T>G
  • NM_001407992.1:c.130T>G
  • NM_001407993.1:c.130T>G
  • NM_001408392.1:c.130T>G
  • NM_001408396.1:c.130T>G
  • NM_001408397.1:c.130T>G
  • NM_001408398.1:c.130T>G
  • NM_001408399.1:c.130T>G
  • NM_001408400.1:c.130T>G
  • NM_001408401.1:c.130T>G
  • NM_001408402.1:c.130T>G
  • NM_001408403.1:c.130T>G
  • NM_001408404.1:c.130T>G
  • NM_001408406.1:c.130T>G
  • NM_001408407.1:c.130T>G
  • NM_001408408.1:c.130T>G
  • NM_001408409.1:c.130T>G
  • NM_001408410.1:c.-12T>G
  • NM_001408411.1:c.130T>G
  • NM_001408412.1:c.130T>G
  • NM_001408413.1:c.130T>G
  • NM_001408414.1:c.130T>G
  • NM_001408415.1:c.130T>G
  • NM_001408416.1:c.130T>G
  • NM_001408418.1:c.130T>G
  • NM_001408419.1:c.130T>G
  • NM_001408420.1:c.130T>G
  • NM_001408421.1:c.130T>G
  • NM_001408422.1:c.130T>G
  • NM_001408423.1:c.130T>G
  • NM_001408424.1:c.130T>G
  • NM_001408425.1:c.130T>G
  • NM_001408426.1:c.130T>G
  • NM_001408427.1:c.130T>G
  • NM_001408428.1:c.130T>G
  • NM_001408429.1:c.130T>G
  • NM_001408430.1:c.130T>G
  • NM_001408431.1:c.130T>G
  • NM_001408432.1:c.130T>G
  • NM_001408433.1:c.130T>G
  • NM_001408434.1:c.130T>G
  • NM_001408435.1:c.130T>G
  • NM_001408436.1:c.130T>G
  • NM_001408437.1:c.130T>G
  • NM_001408438.1:c.130T>G
  • NM_001408439.1:c.130T>G
  • NM_001408440.1:c.130T>G
  • NM_001408441.1:c.130T>G
  • NM_001408442.1:c.130T>G
  • NM_001408443.1:c.130T>G
  • NM_001408444.1:c.130T>G
  • NM_001408445.1:c.130T>G
  • NM_001408446.1:c.130T>G
  • NM_001408447.1:c.130T>G
  • NM_001408448.1:c.130T>G
  • NM_001408450.1:c.130T>G
  • NM_001408452.1:c.-12T>G
  • NM_001408453.1:c.-12T>G
  • NM_001408455.1:c.-128T>G
  • NM_001408456.1:c.-128T>G
  • NM_001408458.1:c.-12T>G
  • NM_001408462.1:c.-12T>G
  • NM_001408463.1:c.-12T>G
  • NM_001408465.1:c.-132T>G
  • NM_001408466.1:c.-12T>G
  • NM_001408468.1:c.-128T>G
  • NM_001408469.1:c.-12T>G
  • NM_001408470.1:c.-12T>G
  • NM_001408472.1:c.130T>G
  • NM_001408473.1:c.130T>G
  • NM_001408474.1:c.130T>G
  • NM_001408475.1:c.130T>G
  • NM_001408476.1:c.130T>G
  • NM_001408478.1:c.-59T>G
  • NM_001408479.1:c.-59T>G
  • NM_001408480.1:c.-59T>G
  • NM_001408481.1:c.-59T>G
  • NM_001408482.1:c.-59T>G
  • NM_001408483.1:c.-59T>G
  • NM_001408484.1:c.-59T>G
  • NM_001408485.1:c.-59T>G
  • NM_001408489.1:c.-59T>G
  • NM_001408490.1:c.-59T>G
  • NM_001408491.1:c.-59T>G
  • NM_001408492.1:c.-175T>G
  • NM_001408493.1:c.-59T>G
  • NM_001408494.1:c.130T>G
  • NM_001408495.1:c.130T>G
  • NM_001408497.1:c.-12T>G
  • NM_001408499.1:c.-12T>G
  • NM_001408500.1:c.-12T>G
  • NM_001408501.1:c.-128T>G
  • NM_001408502.1:c.-59T>G
  • NM_001408503.1:c.-12T>G
  • NM_001408504.1:c.-12T>G
  • NM_001408505.1:c.-12T>G
  • NM_001408506.1:c.-59T>G
  • NM_001408507.1:c.-59T>G
  • NM_001408508.1:c.-59T>G
  • NM_001408509.1:c.-59T>G
  • NM_001408510.1:c.-174T>G
  • NM_001408512.1:c.-174T>G
  • NM_001408513.1:c.-59T>G
  • NM_001408514.1:c.-59T>G
  • NM_007294.4:c.130T>GMANE SELECT
  • NM_007297.4:c.-8+8287T>G
  • NM_007298.4:c.130T>G
  • NM_007299.4:c.130T>G
  • NM_007300.4:c.130T>G
  • NM_007304.2:c.130T>G
  • NP_001394510.1:p.Cys44Gly
  • NP_001394511.1:p.Cys44Gly
  • NP_001394512.1:p.Cys44Gly
  • NP_001394514.1:p.Cys44Gly
  • NP_001394516.1:p.Cys44Gly
  • NP_001394519.1:p.Cys44Gly
  • NP_001394520.1:p.Cys44Gly
  • NP_001394522.1:p.Cys44Gly
  • NP_001394523.1:p.Cys44Gly
  • NP_001394525.1:p.Cys44Gly
  • NP_001394526.1:p.Cys44Gly
  • NP_001394527.1:p.Cys44Gly
  • NP_001394531.1:p.Cys44Gly
  • NP_001394532.1:p.Cys44Gly
  • NP_001394534.1:p.Cys44Gly
  • NP_001394539.1:p.Cys44Gly
  • NP_001394540.1:p.Cys44Gly
  • NP_001394541.1:p.Cys44Gly
  • NP_001394542.1:p.Cys44Gly
  • NP_001394543.1:p.Cys44Gly
  • NP_001394544.1:p.Cys44Gly
  • NP_001394545.1:p.Cys44Gly
  • NP_001394546.1:p.Cys44Gly
  • NP_001394547.1:p.Cys44Gly
  • NP_001394548.1:p.Cys44Gly
  • NP_001394549.1:p.Cys44Gly
  • NP_001394550.1:p.Cys44Gly
  • NP_001394551.1:p.Cys44Gly
  • NP_001394552.1:p.Cys44Gly
  • NP_001394553.1:p.Cys44Gly
  • NP_001394554.1:p.Cys44Gly
  • NP_001394555.1:p.Cys44Gly
  • NP_001394556.1:p.Cys44Gly
  • NP_001394557.1:p.Cys44Gly
  • NP_001394558.1:p.Cys44Gly
  • NP_001394559.1:p.Cys44Gly
  • NP_001394560.1:p.Cys44Gly
  • NP_001394561.1:p.Cys44Gly
  • NP_001394562.1:p.Cys44Gly
  • NP_001394563.1:p.Cys44Gly
  • NP_001394564.1:p.Cys44Gly
  • NP_001394565.1:p.Cys44Gly
  • NP_001394566.1:p.Cys44Gly
  • NP_001394567.1:p.Cys44Gly
  • NP_001394568.1:p.Cys44Gly
  • NP_001394569.1:p.Cys44Gly
  • NP_001394570.1:p.Cys44Gly
  • NP_001394571.1:p.Cys44Gly
  • NP_001394573.1:p.Cys44Gly
  • NP_001394574.1:p.Cys44Gly
  • NP_001394575.1:p.Cys44Gly
  • NP_001394576.1:p.Cys44Gly
  • NP_001394577.1:p.Cys44Gly
  • NP_001394578.1:p.Cys44Gly
  • NP_001394581.1:p.Cys44Gly
  • NP_001394582.1:p.Cys44Gly
  • NP_001394583.1:p.Cys44Gly
  • NP_001394584.1:p.Cys44Gly
  • NP_001394585.1:p.Cys44Gly
  • NP_001394586.1:p.Cys44Gly
  • NP_001394587.1:p.Cys44Gly
  • NP_001394588.1:p.Cys44Gly
  • NP_001394589.1:p.Cys44Gly
  • NP_001394590.1:p.Cys44Gly
  • NP_001394591.1:p.Cys44Gly
  • NP_001394592.1:p.Cys44Gly
  • NP_001394593.1:p.Cys44Gly
  • NP_001394594.1:p.Cys44Gly
  • NP_001394595.1:p.Cys44Gly
  • NP_001394596.1:p.Cys44Gly
  • NP_001394597.1:p.Cys44Gly
  • NP_001394598.1:p.Cys44Gly
  • NP_001394599.1:p.Cys44Gly
  • NP_001394600.1:p.Cys44Gly
  • NP_001394601.1:p.Cys44Gly
  • NP_001394602.1:p.Cys44Gly
  • NP_001394603.1:p.Cys44Gly
  • NP_001394604.1:p.Cys44Gly
  • NP_001394605.1:p.Cys44Gly
  • NP_001394606.1:p.Cys44Gly
  • NP_001394607.1:p.Cys44Gly
  • NP_001394608.1:p.Cys44Gly
  • NP_001394609.1:p.Cys44Gly
  • NP_001394610.1:p.Cys44Gly
  • NP_001394611.1:p.Cys44Gly
  • NP_001394612.1:p.Cys44Gly
  • NP_001394613.1:p.Cys44Gly
  • NP_001394614.1:p.Cys44Gly
  • NP_001394615.1:p.Cys44Gly
  • NP_001394616.1:p.Cys44Gly
  • NP_001394617.1:p.Cys44Gly
  • NP_001394618.1:p.Cys44Gly
  • NP_001394619.1:p.Cys44Gly
  • NP_001394620.1:p.Cys44Gly
  • NP_001394783.1:p.Cys44Gly
  • NP_001394787.1:p.Cys44Gly
  • NP_001394788.1:p.Cys44Gly
  • NP_001394789.1:p.Cys44Gly
  • NP_001394790.1:p.Cys44Gly
  • NP_001394791.1:p.Cys44Gly
  • NP_001394792.1:p.Cys44Gly
  • NP_001394803.1:p.Cys44Gly
  • NP_001394804.1:p.Cys44Gly
  • NP_001394848.1:p.Cys44Gly
  • NP_001394866.1:p.Cys44Gly
  • NP_001394867.1:p.Cys44Gly
  • NP_001394868.1:p.Cys44Gly
  • NP_001394869.1:p.Cys44Gly
  • NP_001394870.1:p.Cys44Gly
  • NP_001394897.1:p.Cys44Gly
  • NP_001394898.1:p.Cys44Gly
  • NP_001394899.1:p.Cys44Gly
  • NP_001394900.1:p.Cys44Gly
  • NP_001394901.1:p.Cys44Gly
  • NP_001394902.1:p.Cys44Gly
  • NP_001394903.1:p.Cys44Gly
  • NP_001394904.1:p.Cys44Gly
  • NP_001394905.1:p.Cys44Gly
  • NP_001394906.1:p.Cys44Gly
  • NP_001394907.1:p.Cys44Gly
  • NP_001394908.1:p.Cys44Gly
  • NP_001394909.1:p.Cys44Gly
  • NP_001394910.1:p.Cys44Gly
  • NP_001394911.1:p.Cys44Gly
  • NP_001394912.1:p.Cys44Gly
  • NP_001394913.1:p.Cys44Gly
  • NP_001394914.1:p.Cys44Gly
  • NP_001394915.1:p.Cys44Gly
  • NP_001394919.1:p.Cys44Gly
  • NP_001394920.1:p.Cys44Gly
  • NP_001394921.1:p.Cys44Gly
  • NP_001394922.1:p.Cys44Gly
  • NP_001395321.1:p.Cys44Gly
  • NP_001395325.1:p.Cys44Gly
  • NP_001395326.1:p.Cys44Gly
  • NP_001395327.1:p.Cys44Gly
  • NP_001395328.1:p.Cys44Gly
  • NP_001395329.1:p.Cys44Gly
  • NP_001395330.1:p.Cys44Gly
  • NP_001395331.1:p.Cys44Gly
  • NP_001395332.1:p.Cys44Gly
  • NP_001395333.1:p.Cys44Gly
  • NP_001395335.1:p.Cys44Gly
  • NP_001395336.1:p.Cys44Gly
  • NP_001395337.1:p.Cys44Gly
  • NP_001395338.1:p.Cys44Gly
  • NP_001395340.1:p.Cys44Gly
  • NP_001395341.1:p.Cys44Gly
  • NP_001395342.1:p.Cys44Gly
  • NP_001395343.1:p.Cys44Gly
  • NP_001395344.1:p.Cys44Gly
  • NP_001395345.1:p.Cys44Gly
  • NP_001395347.1:p.Cys44Gly
  • NP_001395348.1:p.Cys44Gly
  • NP_001395349.1:p.Cys44Gly
  • NP_001395350.1:p.Cys44Gly
  • NP_001395351.1:p.Cys44Gly
  • NP_001395352.1:p.Cys44Gly
  • NP_001395353.1:p.Cys44Gly
  • NP_001395354.1:p.Cys44Gly
  • NP_001395355.1:p.Cys44Gly
  • NP_001395356.1:p.Cys44Gly
  • NP_001395357.1:p.Cys44Gly
  • NP_001395358.1:p.Cys44Gly
  • NP_001395359.1:p.Cys44Gly
  • NP_001395360.1:p.Cys44Gly
  • NP_001395361.1:p.Cys44Gly
  • NP_001395362.1:p.Cys44Gly
  • NP_001395363.1:p.Cys44Gly
  • NP_001395364.1:p.Cys44Gly
  • NP_001395365.1:p.Cys44Gly
  • NP_001395366.1:p.Cys44Gly
  • NP_001395367.1:p.Cys44Gly
  • NP_001395368.1:p.Cys44Gly
  • NP_001395369.1:p.Cys44Gly
  • NP_001395370.1:p.Cys44Gly
  • NP_001395371.1:p.Cys44Gly
  • NP_001395372.1:p.Cys44Gly
  • NP_001395373.1:p.Cys44Gly
  • NP_001395374.1:p.Cys44Gly
  • NP_001395375.1:p.Cys44Gly
  • NP_001395376.1:p.Cys44Gly
  • NP_001395377.1:p.Cys44Gly
  • NP_001395379.1:p.Cys44Gly
  • NP_001395401.1:p.Cys44Gly
  • NP_001395402.1:p.Cys44Gly
  • NP_001395403.1:p.Cys44Gly
  • NP_001395404.1:p.Cys44Gly
  • NP_001395405.1:p.Cys44Gly
  • NP_001395423.1:p.Cys44Gly
  • NP_001395424.1:p.Cys44Gly
  • NP_009225.1:p.Cys44Gly
  • NP_009225.1:p.Cys44Gly
  • NP_009229.2:p.Cys44Gly
  • NP_009229.2:p.Cys44Gly
  • NP_009230.2:p.Cys44Gly
  • NP_009231.2:p.Cys44Gly
  • NP_009235.2:p.Cys44Gly
  • LRG_292t1:c.130T>G
  • LRG_292:g.102254T>G
  • LRG_292p1:p.Cys44Gly
  • NC_000017.10:g.41267747A>C
  • NM_007294.3:c.130T>G
  • NM_007298.3:c.130T>G
  • NR_027676.2:n.332T>G
Protein change:
C44G
Links:
dbSNP: rs80357327
NCBI 1000 Genomes Browser:
rs80357327
Molecular consequence:
  • NM_007297.4:c.-8+8287T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.332T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000679200ClinVar Staff, National Center for Biotechnology Information (NCBI)
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer.

Essioux L, Girodet C, Sinilnikova O, Pagès S, Eisinger F, de Résende S, Maugard C, Lanoë D, Longy M, Bignon YJ, Sobol H, Bonaïti-Pellié C, Stoppa-Lyonnet D.

Am J Med Genet. 1998 Sep 23;79(3):175-83.

PubMed [citation]
PMID:
9788557

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 8, 2024