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NM_007294.4(BRCA1):c.128T>C (p.Phe43Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000509630.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.128T>C (p.Phe43Ser)]

NM_007294.4(BRCA1):c.128T>C (p.Phe43Ser)

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.128T>C (p.Phe43Ser)
HGVS:
  • NC_000017.11:g.43115732A>G
  • NG_005905.2:g.102252T>C
  • NM_001407571.1:c.-61T>C
  • NM_001407581.1:c.128T>C
  • NM_001407582.1:c.128T>C
  • NM_001407583.1:c.128T>C
  • NM_001407585.1:c.128T>C
  • NM_001407587.1:c.128T>C
  • NM_001407590.1:c.128T>C
  • NM_001407591.1:c.128T>C
  • NM_001407593.1:c.128T>C
  • NM_001407594.1:c.128T>C
  • NM_001407596.1:c.128T>C
  • NM_001407597.1:c.128T>C
  • NM_001407598.1:c.128T>C
  • NM_001407602.1:c.128T>C
  • NM_001407603.1:c.128T>C
  • NM_001407605.1:c.128T>C
  • NM_001407610.1:c.128T>C
  • NM_001407611.1:c.128T>C
  • NM_001407612.1:c.128T>C
  • NM_001407613.1:c.128T>C
  • NM_001407614.1:c.128T>C
  • NM_001407615.1:c.128T>C
  • NM_001407616.1:c.128T>C
  • NM_001407617.1:c.128T>C
  • NM_001407618.1:c.128T>C
  • NM_001407619.1:c.128T>C
  • NM_001407620.1:c.128T>C
  • NM_001407621.1:c.128T>C
  • NM_001407622.1:c.128T>C
  • NM_001407623.1:c.128T>C
  • NM_001407624.1:c.128T>C
  • NM_001407625.1:c.128T>C
  • NM_001407626.1:c.128T>C
  • NM_001407627.1:c.128T>C
  • NM_001407628.1:c.128T>C
  • NM_001407629.1:c.128T>C
  • NM_001407630.1:c.128T>C
  • NM_001407631.1:c.128T>C
  • NM_001407632.1:c.128T>C
  • NM_001407633.1:c.128T>C
  • NM_001407634.1:c.128T>C
  • NM_001407635.1:c.128T>C
  • NM_001407636.1:c.128T>C
  • NM_001407637.1:c.128T>C
  • NM_001407638.1:c.128T>C
  • NM_001407639.1:c.128T>C
  • NM_001407640.1:c.128T>C
  • NM_001407641.1:c.128T>C
  • NM_001407642.1:c.128T>C
  • NM_001407644.1:c.128T>C
  • NM_001407645.1:c.128T>C
  • NM_001407646.1:c.128T>C
  • NM_001407647.1:c.128T>C
  • NM_001407648.1:c.128T>C
  • NM_001407649.1:c.128T>C
  • NM_001407652.1:c.128T>C
  • NM_001407653.1:c.128T>C
  • NM_001407654.1:c.128T>C
  • NM_001407655.1:c.128T>C
  • NM_001407656.1:c.128T>C
  • NM_001407657.1:c.128T>C
  • NM_001407658.1:c.128T>C
  • NM_001407659.1:c.128T>C
  • NM_001407660.1:c.128T>C
  • NM_001407661.1:c.128T>C
  • NM_001407662.1:c.128T>C
  • NM_001407663.1:c.128T>C
  • NM_001407664.1:c.128T>C
  • NM_001407665.1:c.128T>C
  • NM_001407666.1:c.128T>C
  • NM_001407667.1:c.128T>C
  • NM_001407668.1:c.128T>C
  • NM_001407669.1:c.128T>C
  • NM_001407670.1:c.128T>C
  • NM_001407671.1:c.128T>C
  • NM_001407672.1:c.128T>C
  • NM_001407673.1:c.128T>C
  • NM_001407674.1:c.128T>C
  • NM_001407675.1:c.128T>C
  • NM_001407676.1:c.128T>C
  • NM_001407677.1:c.128T>C
  • NM_001407678.1:c.128T>C
  • NM_001407679.1:c.128T>C
  • NM_001407680.1:c.128T>C
  • NM_001407681.1:c.128T>C
  • NM_001407682.1:c.128T>C
  • NM_001407683.1:c.128T>C
  • NM_001407684.1:c.128T>C
  • NM_001407685.1:c.128T>C
  • NM_001407686.1:c.128T>C
  • NM_001407687.1:c.128T>C
  • NM_001407688.1:c.128T>C
  • NM_001407689.1:c.128T>C
  • NM_001407690.1:c.128T>C
  • NM_001407691.1:c.128T>C
  • NM_001407694.1:c.-130T>C
  • NM_001407695.1:c.-134T>C
  • NM_001407696.1:c.-130T>C
  • NM_001407697.1:c.-14T>C
  • NM_001407724.1:c.-130T>C
  • NM_001407725.1:c.-14T>C
  • NM_001407727.1:c.-130T>C
  • NM_001407728.1:c.-14T>C
  • NM_001407729.1:c.-14T>C
  • NM_001407730.1:c.-14T>C
  • NM_001407731.1:c.-130T>C
  • NM_001407733.1:c.-130T>C
  • NM_001407734.1:c.-14T>C
  • NM_001407735.1:c.-14T>C
  • NM_001407737.1:c.-14T>C
  • NM_001407739.1:c.-14T>C
  • NM_001407740.1:c.-14T>C
  • NM_001407741.1:c.-14T>C
  • NM_001407743.1:c.-14T>C
  • NM_001407745.1:c.-14T>C
  • NM_001407746.1:c.-130T>C
  • NM_001407748.1:c.-14T>C
  • NM_001407749.1:c.-130T>C
  • NM_001407752.1:c.-14T>C
  • NM_001407838.1:c.-14T>C
  • NM_001407839.1:c.-14T>C
  • NM_001407841.1:c.-10T>C
  • NM_001407842.1:c.-130T>C
  • NM_001407843.1:c.-130T>C
  • NM_001407844.1:c.-14T>C
  • NM_001407846.1:c.-14T>C
  • NM_001407847.1:c.-14T>C
  • NM_001407848.1:c.-14T>C
  • NM_001407850.1:c.-14T>C
  • NM_001407851.1:c.-14T>C
  • NM_001407853.1:c.-61T>C
  • NM_001407854.1:c.128T>C
  • NM_001407858.1:c.128T>C
  • NM_001407859.1:c.128T>C
  • NM_001407860.1:c.128T>C
  • NM_001407861.1:c.128T>C
  • NM_001407862.1:c.128T>C
  • NM_001407863.1:c.128T>C
  • NM_001407874.1:c.128T>C
  • NM_001407875.1:c.128T>C
  • NM_001407879.1:c.-61T>C
  • NM_001407882.1:c.-61T>C
  • NM_001407884.1:c.-61T>C
  • NM_001407885.1:c.-61T>C
  • NM_001407886.1:c.-61T>C
  • NM_001407887.1:c.-61T>C
  • NM_001407889.1:c.-177T>C
  • NM_001407894.1:c.-61T>C
  • NM_001407895.1:c.-61T>C
  • NM_001407896.1:c.-61T>C
  • NM_001407897.1:c.-61T>C
  • NM_001407899.1:c.-61T>C
  • NM_001407900.1:c.-177T>C
  • NM_001407904.1:c.-61T>C
  • NM_001407906.1:c.-61T>C
  • NM_001407907.1:c.-61T>C
  • NM_001407908.1:c.-61T>C
  • NM_001407909.1:c.-61T>C
  • NM_001407910.1:c.-61T>C
  • NM_001407915.1:c.-61T>C
  • NM_001407916.1:c.-61T>C
  • NM_001407917.1:c.-61T>C
  • NM_001407918.1:c.-61T>C
  • NM_001407919.1:c.128T>C
  • NM_001407920.1:c.-14T>C
  • NM_001407921.1:c.-14T>C
  • NM_001407922.1:c.-14T>C
  • NM_001407923.1:c.-14T>C
  • NM_001407926.1:c.-14T>C
  • NM_001407927.1:c.-14T>C
  • NM_001407930.1:c.-130T>C
  • NM_001407933.1:c.-14T>C
  • NM_001407934.1:c.-14T>C
  • NM_001407935.1:c.-14T>C
  • NM_001407937.1:c.128T>C
  • NM_001407938.1:c.128T>C
  • NM_001407939.1:c.128T>C
  • NM_001407940.1:c.128T>C
  • NM_001407941.1:c.128T>C
  • NM_001407942.1:c.-130T>C
  • NM_001407943.1:c.-14T>C
  • NM_001407944.1:c.-14T>C
  • NM_001407946.1:c.-61T>C
  • NM_001407947.1:c.-61T>C
  • NM_001407948.1:c.-61T>C
  • NM_001407949.1:c.-61T>C
  • NM_001407950.1:c.-61T>C
  • NM_001407951.1:c.-61T>C
  • NM_001407952.1:c.-61T>C
  • NM_001407953.1:c.-61T>C
  • NM_001407954.1:c.-61T>C
  • NM_001407955.1:c.-61T>C
  • NM_001407956.1:c.-61T>C
  • NM_001407957.1:c.-61T>C
  • NM_001407958.1:c.-61T>C
  • NM_001407960.1:c.-176T>C
  • NM_001407962.1:c.-176T>C
  • NM_001407964.1:c.-14T>C
  • NM_001407965.1:c.-292T>C
  • NM_001407968.1:c.128T>C
  • NM_001407969.1:c.128T>C
  • NM_001407970.1:c.128T>C
  • NM_001407971.1:c.128T>C
  • NM_001407972.1:c.128T>C
  • NM_001407973.1:c.128T>C
  • NM_001407974.1:c.128T>C
  • NM_001407975.1:c.128T>C
  • NM_001407976.1:c.128T>C
  • NM_001407977.1:c.128T>C
  • NM_001407978.1:c.128T>C
  • NM_001407979.1:c.128T>C
  • NM_001407980.1:c.128T>C
  • NM_001407981.1:c.128T>C
  • NM_001407982.1:c.128T>C
  • NM_001407983.1:c.128T>C
  • NM_001407984.1:c.128T>C
  • NM_001407985.1:c.128T>C
  • NM_001407986.1:c.128T>C
  • NM_001407990.1:c.128T>C
  • NM_001407991.1:c.128T>C
  • NM_001407992.1:c.128T>C
  • NM_001407993.1:c.128T>C
  • NM_001408392.1:c.128T>C
  • NM_001408396.1:c.128T>C
  • NM_001408397.1:c.128T>C
  • NM_001408398.1:c.128T>C
  • NM_001408399.1:c.128T>C
  • NM_001408400.1:c.128T>C
  • NM_001408401.1:c.128T>C
  • NM_001408402.1:c.128T>C
  • NM_001408403.1:c.128T>C
  • NM_001408404.1:c.128T>C
  • NM_001408406.1:c.128T>C
  • NM_001408407.1:c.128T>C
  • NM_001408408.1:c.128T>C
  • NM_001408409.1:c.128T>C
  • NM_001408410.1:c.-14T>C
  • NM_001408411.1:c.128T>C
  • NM_001408412.1:c.128T>C
  • NM_001408413.1:c.128T>C
  • NM_001408414.1:c.128T>C
  • NM_001408415.1:c.128T>C
  • NM_001408416.1:c.128T>C
  • NM_001408418.1:c.128T>C
  • NM_001408419.1:c.128T>C
  • NM_001408420.1:c.128T>C
  • NM_001408421.1:c.128T>C
  • NM_001408422.1:c.128T>C
  • NM_001408423.1:c.128T>C
  • NM_001408424.1:c.128T>C
  • NM_001408425.1:c.128T>C
  • NM_001408426.1:c.128T>C
  • NM_001408427.1:c.128T>C
  • NM_001408428.1:c.128T>C
  • NM_001408429.1:c.128T>C
  • NM_001408430.1:c.128T>C
  • NM_001408431.1:c.128T>C
  • NM_001408432.1:c.128T>C
  • NM_001408433.1:c.128T>C
  • NM_001408434.1:c.128T>C
  • NM_001408435.1:c.128T>C
  • NM_001408436.1:c.128T>C
  • NM_001408437.1:c.128T>C
  • NM_001408438.1:c.128T>C
  • NM_001408439.1:c.128T>C
  • NM_001408440.1:c.128T>C
  • NM_001408441.1:c.128T>C
  • NM_001408442.1:c.128T>C
  • NM_001408443.1:c.128T>C
  • NM_001408444.1:c.128T>C
  • NM_001408445.1:c.128T>C
  • NM_001408446.1:c.128T>C
  • NM_001408447.1:c.128T>C
  • NM_001408448.1:c.128T>C
  • NM_001408450.1:c.128T>C
  • NM_001408452.1:c.-14T>C
  • NM_001408453.1:c.-14T>C
  • NM_001408455.1:c.-130T>C
  • NM_001408456.1:c.-130T>C
  • NM_001408458.1:c.-14T>C
  • NM_001408462.1:c.-14T>C
  • NM_001408463.1:c.-14T>C
  • NM_001408465.1:c.-134T>C
  • NM_001408466.1:c.-14T>C
  • NM_001408468.1:c.-130T>C
  • NM_001408469.1:c.-14T>C
  • NM_001408470.1:c.-14T>C
  • NM_001408472.1:c.128T>C
  • NM_001408473.1:c.128T>C
  • NM_001408474.1:c.128T>C
  • NM_001408475.1:c.128T>C
  • NM_001408476.1:c.128T>C
  • NM_001408478.1:c.-61T>C
  • NM_001408479.1:c.-61T>C
  • NM_001408480.1:c.-61T>C
  • NM_001408481.1:c.-61T>C
  • NM_001408482.1:c.-61T>C
  • NM_001408483.1:c.-61T>C
  • NM_001408484.1:c.-61T>C
  • NM_001408485.1:c.-61T>C
  • NM_001408489.1:c.-61T>C
  • NM_001408490.1:c.-61T>C
  • NM_001408491.1:c.-61T>C
  • NM_001408492.1:c.-177T>C
  • NM_001408493.1:c.-61T>C
  • NM_001408494.1:c.128T>C
  • NM_001408495.1:c.128T>C
  • NM_001408497.1:c.-14T>C
  • NM_001408499.1:c.-14T>C
  • NM_001408500.1:c.-14T>C
  • NM_001408501.1:c.-130T>C
  • NM_001408502.1:c.-61T>C
  • NM_001408503.1:c.-14T>C
  • NM_001408504.1:c.-14T>C
  • NM_001408505.1:c.-14T>C
  • NM_001408506.1:c.-61T>C
  • NM_001408507.1:c.-61T>C
  • NM_001408508.1:c.-61T>C
  • NM_001408509.1:c.-61T>C
  • NM_001408510.1:c.-176T>C
  • NM_001408512.1:c.-176T>C
  • NM_001408513.1:c.-61T>C
  • NM_001408514.1:c.-61T>C
  • NM_007294.4:c.128T>CMANE SELECT
  • NM_007297.4:c.-8+8285T>C
  • NM_007298.4:c.128T>C
  • NM_007299.4:c.128T>C
  • NM_007300.4:c.128T>C
  • NM_007304.2:c.128T>C
  • NP_001394510.1:p.Phe43Ser
  • NP_001394511.1:p.Phe43Ser
  • NP_001394512.1:p.Phe43Ser
  • NP_001394514.1:p.Phe43Ser
  • NP_001394516.1:p.Phe43Ser
  • NP_001394519.1:p.Phe43Ser
  • NP_001394520.1:p.Phe43Ser
  • NP_001394522.1:p.Phe43Ser
  • NP_001394523.1:p.Phe43Ser
  • NP_001394525.1:p.Phe43Ser
  • NP_001394526.1:p.Phe43Ser
  • NP_001394527.1:p.Phe43Ser
  • NP_001394531.1:p.Phe43Ser
  • NP_001394532.1:p.Phe43Ser
  • NP_001394534.1:p.Phe43Ser
  • NP_001394539.1:p.Phe43Ser
  • NP_001394540.1:p.Phe43Ser
  • NP_001394541.1:p.Phe43Ser
  • NP_001394542.1:p.Phe43Ser
  • NP_001394543.1:p.Phe43Ser
  • NP_001394544.1:p.Phe43Ser
  • NP_001394545.1:p.Phe43Ser
  • NP_001394546.1:p.Phe43Ser
  • NP_001394547.1:p.Phe43Ser
  • NP_001394548.1:p.Phe43Ser
  • NP_001394549.1:p.Phe43Ser
  • NP_001394550.1:p.Phe43Ser
  • NP_001394551.1:p.Phe43Ser
  • NP_001394552.1:p.Phe43Ser
  • NP_001394553.1:p.Phe43Ser
  • NP_001394554.1:p.Phe43Ser
  • NP_001394555.1:p.Phe43Ser
  • NP_001394556.1:p.Phe43Ser
  • NP_001394557.1:p.Phe43Ser
  • NP_001394558.1:p.Phe43Ser
  • NP_001394559.1:p.Phe43Ser
  • NP_001394560.1:p.Phe43Ser
  • NP_001394561.1:p.Phe43Ser
  • NP_001394562.1:p.Phe43Ser
  • NP_001394563.1:p.Phe43Ser
  • NP_001394564.1:p.Phe43Ser
  • NP_001394565.1:p.Phe43Ser
  • NP_001394566.1:p.Phe43Ser
  • NP_001394567.1:p.Phe43Ser
  • NP_001394568.1:p.Phe43Ser
  • NP_001394569.1:p.Phe43Ser
  • NP_001394570.1:p.Phe43Ser
  • NP_001394571.1:p.Phe43Ser
  • NP_001394573.1:p.Phe43Ser
  • NP_001394574.1:p.Phe43Ser
  • NP_001394575.1:p.Phe43Ser
  • NP_001394576.1:p.Phe43Ser
  • NP_001394577.1:p.Phe43Ser
  • NP_001394578.1:p.Phe43Ser
  • NP_001394581.1:p.Phe43Ser
  • NP_001394582.1:p.Phe43Ser
  • NP_001394583.1:p.Phe43Ser
  • NP_001394584.1:p.Phe43Ser
  • NP_001394585.1:p.Phe43Ser
  • NP_001394586.1:p.Phe43Ser
  • NP_001394587.1:p.Phe43Ser
  • NP_001394588.1:p.Phe43Ser
  • NP_001394589.1:p.Phe43Ser
  • NP_001394590.1:p.Phe43Ser
  • NP_001394591.1:p.Phe43Ser
  • NP_001394592.1:p.Phe43Ser
  • NP_001394593.1:p.Phe43Ser
  • NP_001394594.1:p.Phe43Ser
  • NP_001394595.1:p.Phe43Ser
  • NP_001394596.1:p.Phe43Ser
  • NP_001394597.1:p.Phe43Ser
  • NP_001394598.1:p.Phe43Ser
  • NP_001394599.1:p.Phe43Ser
  • NP_001394600.1:p.Phe43Ser
  • NP_001394601.1:p.Phe43Ser
  • NP_001394602.1:p.Phe43Ser
  • NP_001394603.1:p.Phe43Ser
  • NP_001394604.1:p.Phe43Ser
  • NP_001394605.1:p.Phe43Ser
  • NP_001394606.1:p.Phe43Ser
  • NP_001394607.1:p.Phe43Ser
  • NP_001394608.1:p.Phe43Ser
  • NP_001394609.1:p.Phe43Ser
  • NP_001394610.1:p.Phe43Ser
  • NP_001394611.1:p.Phe43Ser
  • NP_001394612.1:p.Phe43Ser
  • NP_001394613.1:p.Phe43Ser
  • NP_001394614.1:p.Phe43Ser
  • NP_001394615.1:p.Phe43Ser
  • NP_001394616.1:p.Phe43Ser
  • NP_001394617.1:p.Phe43Ser
  • NP_001394618.1:p.Phe43Ser
  • NP_001394619.1:p.Phe43Ser
  • NP_001394620.1:p.Phe43Ser
  • NP_001394783.1:p.Phe43Ser
  • NP_001394787.1:p.Phe43Ser
  • NP_001394788.1:p.Phe43Ser
  • NP_001394789.1:p.Phe43Ser
  • NP_001394790.1:p.Phe43Ser
  • NP_001394791.1:p.Phe43Ser
  • NP_001394792.1:p.Phe43Ser
  • NP_001394803.1:p.Phe43Ser
  • NP_001394804.1:p.Phe43Ser
  • NP_001394848.1:p.Phe43Ser
  • NP_001394866.1:p.Phe43Ser
  • NP_001394867.1:p.Phe43Ser
  • NP_001394868.1:p.Phe43Ser
  • NP_001394869.1:p.Phe43Ser
  • NP_001394870.1:p.Phe43Ser
  • NP_001394897.1:p.Phe43Ser
  • NP_001394898.1:p.Phe43Ser
  • NP_001394899.1:p.Phe43Ser
  • NP_001394900.1:p.Phe43Ser
  • NP_001394901.1:p.Phe43Ser
  • NP_001394902.1:p.Phe43Ser
  • NP_001394903.1:p.Phe43Ser
  • NP_001394904.1:p.Phe43Ser
  • NP_001394905.1:p.Phe43Ser
  • NP_001394906.1:p.Phe43Ser
  • NP_001394907.1:p.Phe43Ser
  • NP_001394908.1:p.Phe43Ser
  • NP_001394909.1:p.Phe43Ser
  • NP_001394910.1:p.Phe43Ser
  • NP_001394911.1:p.Phe43Ser
  • NP_001394912.1:p.Phe43Ser
  • NP_001394913.1:p.Phe43Ser
  • NP_001394914.1:p.Phe43Ser
  • NP_001394915.1:p.Phe43Ser
  • NP_001394919.1:p.Phe43Ser
  • NP_001394920.1:p.Phe43Ser
  • NP_001394921.1:p.Phe43Ser
  • NP_001394922.1:p.Phe43Ser
  • NP_001395321.1:p.Phe43Ser
  • NP_001395325.1:p.Phe43Ser
  • NP_001395326.1:p.Phe43Ser
  • NP_001395327.1:p.Phe43Ser
  • NP_001395328.1:p.Phe43Ser
  • NP_001395329.1:p.Phe43Ser
  • NP_001395330.1:p.Phe43Ser
  • NP_001395331.1:p.Phe43Ser
  • NP_001395332.1:p.Phe43Ser
  • NP_001395333.1:p.Phe43Ser
  • NP_001395335.1:p.Phe43Ser
  • NP_001395336.1:p.Phe43Ser
  • NP_001395337.1:p.Phe43Ser
  • NP_001395338.1:p.Phe43Ser
  • NP_001395340.1:p.Phe43Ser
  • NP_001395341.1:p.Phe43Ser
  • NP_001395342.1:p.Phe43Ser
  • NP_001395343.1:p.Phe43Ser
  • NP_001395344.1:p.Phe43Ser
  • NP_001395345.1:p.Phe43Ser
  • NP_001395347.1:p.Phe43Ser
  • NP_001395348.1:p.Phe43Ser
  • NP_001395349.1:p.Phe43Ser
  • NP_001395350.1:p.Phe43Ser
  • NP_001395351.1:p.Phe43Ser
  • NP_001395352.1:p.Phe43Ser
  • NP_001395353.1:p.Phe43Ser
  • NP_001395354.1:p.Phe43Ser
  • NP_001395355.1:p.Phe43Ser
  • NP_001395356.1:p.Phe43Ser
  • NP_001395357.1:p.Phe43Ser
  • NP_001395358.1:p.Phe43Ser
  • NP_001395359.1:p.Phe43Ser
  • NP_001395360.1:p.Phe43Ser
  • NP_001395361.1:p.Phe43Ser
  • NP_001395362.1:p.Phe43Ser
  • NP_001395363.1:p.Phe43Ser
  • NP_001395364.1:p.Phe43Ser
  • NP_001395365.1:p.Phe43Ser
  • NP_001395366.1:p.Phe43Ser
  • NP_001395367.1:p.Phe43Ser
  • NP_001395368.1:p.Phe43Ser
  • NP_001395369.1:p.Phe43Ser
  • NP_001395370.1:p.Phe43Ser
  • NP_001395371.1:p.Phe43Ser
  • NP_001395372.1:p.Phe43Ser
  • NP_001395373.1:p.Phe43Ser
  • NP_001395374.1:p.Phe43Ser
  • NP_001395375.1:p.Phe43Ser
  • NP_001395376.1:p.Phe43Ser
  • NP_001395377.1:p.Phe43Ser
  • NP_001395379.1:p.Phe43Ser
  • NP_001395401.1:p.Phe43Ser
  • NP_001395402.1:p.Phe43Ser
  • NP_001395403.1:p.Phe43Ser
  • NP_001395404.1:p.Phe43Ser
  • NP_001395405.1:p.Phe43Ser
  • NP_001395423.1:p.Phe43Ser
  • NP_001395424.1:p.Phe43Ser
  • NP_009225.1:p.Phe43Ser
  • NP_009225.1:p.Phe43Ser
  • NP_009229.2:p.Phe43Ser
  • NP_009229.2:p.Phe43Ser
  • NP_009230.2:p.Phe43Ser
  • NP_009231.2:p.Phe43Ser
  • NP_009235.2:p.Phe43Ser
  • LRG_292t1:c.128T>C
  • LRG_292:g.102252T>C
  • LRG_292p1:p.Phe43Ser
  • NC_000017.10:g.41267749A>G
  • NM_007294.3:c.128T>C
  • NM_007298.3:c.128T>C
  • NR_027676.2:n.330T>C
Protein change:
F43S
Links:
dbSNP: rs1298544053
NCBI 1000 Genomes Browser:
rs1298544053
Molecular consequence:
  • NM_007297.4:c.-8+8285T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.128T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.330T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607903Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 24, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S.

Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30. Erratum in: Genetics. 2017 Dec;207(4):1713. doi: 10.1534/genetics.117.300355.

PubMed [citation]
PMID:
25823446
PMCID:
PMC4492368

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Ambry Genetics, SCV000607903.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.F43S variant (also known as c.128T>C), located in coding exon 2 of the BRCA1 gene, results from a T to C substitution at nucleotide position 128. The phenylalanine at codon 43 is replaced by serine, an amino acid with highly dissimilar properties. A BRCA1/BARD1 interaction assay showed that p.F43S performed similar to wild-type (Starita LM et al. Genetics, 2015 Jun;200:413-22). Another functional study found this nucleotide substitution to have intermediate function in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024