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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cupin-like domain-containing protein [Pedobacter sp. HDW13]
cupin-like domain-containing protein [Pedobacter sp. HDW13]
gi|1821196835|gnl|PRJNA609863|G7074 5|gb|QIL39037.1|

Protein
Ductal Eccrine Carcinoma with Spindle Cell Elements
Ductal Eccrine Carcinoma with Spindle Cell Elements

MedGen
Papillary eccrine carcinoma
Papillary eccrine carcinoma

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679200	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679200

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine