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NM_007294.4(BRCA1):c.130del (p.Cys44fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 17, 2023
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:
RCV000496885.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.130del (p.Cys44fs)]

NM_007294.4(BRCA1):c.130del (p.Cys44fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.130del (p.Cys44fs)
Other names:
249delT
HGVS:
  • NC_000017.10:g.41267747del
  • NC_000017.11:g.43115733del
  • NG_005905.2:g.102254del
  • NM_001407571.1:c.-62delT
  • NM_001407581.1:c.127delT
  • NM_001407582.1:c.127delT
  • NM_001407583.1:c.127delT
  • NM_001407585.1:c.127delT
  • NM_001407587.1:c.127delT
  • NM_001407590.1:c.127delT
  • NM_001407591.1:c.127delT
  • NM_001407593.1:c.127delT
  • NM_001407594.1:c.127delT
  • NM_001407596.1:c.127delT
  • NM_001407597.1:c.127delT
  • NM_001407598.1:c.127delT
  • NM_001407602.1:c.127delT
  • NM_001407603.1:c.127delT
  • NM_001407605.1:c.127delT
  • NM_001407610.1:c.127delT
  • NM_001407611.1:c.127delT
  • NM_001407612.1:c.127delT
  • NM_001407613.1:c.127delT
  • NM_001407614.1:c.127delT
  • NM_001407615.1:c.127delT
  • NM_001407616.1:c.127delT
  • NM_001407617.1:c.127delT
  • NM_001407618.1:c.127delT
  • NM_001407619.1:c.127delT
  • NM_001407620.1:c.127delT
  • NM_001407621.1:c.127delT
  • NM_001407622.1:c.127delT
  • NM_001407623.1:c.127delT
  • NM_001407624.1:c.127delT
  • NM_001407625.1:c.127delT
  • NM_001407626.1:c.127delT
  • NM_001407627.1:c.127delT
  • NM_001407628.1:c.127delT
  • NM_001407629.1:c.127delT
  • NM_001407630.1:c.127delT
  • NM_001407631.1:c.127delT
  • NM_001407632.1:c.127delT
  • NM_001407633.1:c.127delT
  • NM_001407634.1:c.127delT
  • NM_001407635.1:c.127delT
  • NM_001407636.1:c.127delT
  • NM_001407637.1:c.127delT
  • NM_001407638.1:c.127delT
  • NM_001407639.1:c.127delT
  • NM_001407640.1:c.127delT
  • NM_001407641.1:c.127delT
  • NM_001407642.1:c.127delT
  • NM_001407644.1:c.127delT
  • NM_001407645.1:c.127delT
  • NM_001407646.1:c.127delT
  • NM_001407647.1:c.127delT
  • NM_001407648.1:c.127delT
  • NM_001407649.1:c.127delT
  • NM_001407652.1:c.127delT
  • NM_001407653.1:c.127delT
  • NM_001407654.1:c.127delT
  • NM_001407655.1:c.127delT
  • NM_001407656.1:c.127delT
  • NM_001407657.1:c.127delT
  • NM_001407658.1:c.127delT
  • NM_001407659.1:c.127delT
  • NM_001407660.1:c.127delT
  • NM_001407661.1:c.127delT
  • NM_001407662.1:c.127delT
  • NM_001407663.1:c.127delT
  • NM_001407664.1:c.127delT
  • NM_001407665.1:c.127delT
  • NM_001407666.1:c.127delT
  • NM_001407667.1:c.127delT
  • NM_001407668.1:c.127delT
  • NM_001407669.1:c.127delT
  • NM_001407670.1:c.127delT
  • NM_001407671.1:c.127delT
  • NM_001407672.1:c.127delT
  • NM_001407673.1:c.127delT
  • NM_001407674.1:c.127delT
  • NM_001407675.1:c.127delT
  • NM_001407676.1:c.127delT
  • NM_001407677.1:c.127delT
  • NM_001407678.1:c.127delT
  • NM_001407679.1:c.127delT
  • NM_001407680.1:c.127delT
  • NM_001407681.1:c.127delT
  • NM_001407682.1:c.127delT
  • NM_001407683.1:c.127delT
  • NM_001407684.1:c.127delT
  • NM_001407685.1:c.127delT
  • NM_001407686.1:c.127delT
  • NM_001407687.1:c.127delT
  • NM_001407688.1:c.127delT
  • NM_001407689.1:c.127delT
  • NM_001407690.1:c.127delT
  • NM_001407691.1:c.127delT
  • NM_001407694.1:c.-131delT
  • NM_001407695.1:c.-135delT
  • NM_001407696.1:c.-131delT
  • NM_001407697.1:c.-15delT
  • NM_001407724.1:c.-131delT
  • NM_001407725.1:c.-15delT
  • NM_001407727.1:c.-131delT
  • NM_001407728.1:c.-15delT
  • NM_001407729.1:c.-15delT
  • NM_001407730.1:c.-15delT
  • NM_001407731.1:c.-131delT
  • NM_001407733.1:c.-131delT
  • NM_001407734.1:c.-15delT
  • NM_001407735.1:c.-15delT
  • NM_001407737.1:c.-15delT
  • NM_001407739.1:c.-15delT
  • NM_001407740.1:c.-15delT
  • NM_001407741.1:c.-15delT
  • NM_001407743.1:c.-15delT
  • NM_001407745.1:c.-15delT
  • NM_001407746.1:c.-131delT
  • NM_001407748.1:c.-15delT
  • NM_001407749.1:c.-131delT
  • NM_001407752.1:c.-15delT
  • NM_001407838.1:c.-15delT
  • NM_001407839.1:c.-15delT
  • NM_001407841.1:c.-11delT
  • NM_001407842.1:c.-131delT
  • NM_001407843.1:c.-131delT
  • NM_001407844.1:c.-15delT
  • NM_001407846.1:c.-15delT
  • NM_001407847.1:c.-15delT
  • NM_001407848.1:c.-15delT
  • NM_001407850.1:c.-15delT
  • NM_001407851.1:c.-15delT
  • NM_001407853.1:c.-62delT
  • NM_001407854.1:c.127delT
  • NM_001407858.1:c.127delT
  • NM_001407859.1:c.127delT
  • NM_001407860.1:c.127delT
  • NM_001407861.1:c.127delT
  • NM_001407862.1:c.127delT
  • NM_001407863.1:c.127delT
  • NM_001407874.1:c.127delT
  • NM_001407875.1:c.127delT
  • NM_001407879.1:c.-62delT
  • NM_001407882.1:c.-62delT
  • NM_001407884.1:c.-62delT
  • NM_001407885.1:c.-62delT
  • NM_001407886.1:c.-62delT
  • NM_001407887.1:c.-62delT
  • NM_001407889.1:c.-178delT
  • NM_001407894.1:c.-62delT
  • NM_001407895.1:c.-62delT
  • NM_001407896.1:c.-62delT
  • NM_001407897.1:c.-62delT
  • NM_001407899.1:c.-62delT
  • NM_001407900.1:c.-178delT
  • NM_001407904.1:c.-62delT
  • NM_001407906.1:c.-62delT
  • NM_001407907.1:c.-62delT
  • NM_001407908.1:c.-62delT
  • NM_001407909.1:c.-62delT
  • NM_001407910.1:c.-62delT
  • NM_001407915.1:c.-62delT
  • NM_001407916.1:c.-62delT
  • NM_001407917.1:c.-62delT
  • NM_001407918.1:c.-62delT
  • NM_001407919.1:c.127delT
  • NM_001407920.1:c.-15delT
  • NM_001407921.1:c.-15delT
  • NM_001407922.1:c.-15delT
  • NM_001407923.1:c.-15delT
  • NM_001407926.1:c.-15delT
  • NM_001407927.1:c.-15delT
  • NM_001407930.1:c.-131delT
  • NM_001407933.1:c.-15delT
  • NM_001407934.1:c.-15delT
  • NM_001407935.1:c.-15delT
  • NM_001407937.1:c.127delT
  • NM_001407938.1:c.127delT
  • NM_001407939.1:c.127delT
  • NM_001407940.1:c.127delT
  • NM_001407941.1:c.127delT
  • NM_001407942.1:c.-131delT
  • NM_001407943.1:c.-15delT
  • NM_001407944.1:c.-15delT
  • NM_001407946.1:c.-62delT
  • NM_001407947.1:c.-62delT
  • NM_001407948.1:c.-62delT
  • NM_001407949.1:c.-62delT
  • NM_001407950.1:c.-62delT
  • NM_001407951.1:c.-62delT
  • NM_001407952.1:c.-62delT
  • NM_001407953.1:c.-62delT
  • NM_001407954.1:c.-62delT
  • NM_001407955.1:c.-62delT
  • NM_001407956.1:c.-62delT
  • NM_001407957.1:c.-62delT
  • NM_001407958.1:c.-62delT
  • NM_001407960.1:c.-177delT
  • NM_001407962.1:c.-177delT
  • NM_001407964.1:c.-15delT
  • NM_001407965.1:c.-293delT
  • NM_001407968.1:c.127delT
  • NM_001407969.1:c.127delT
  • NM_001407970.1:c.127delT
  • NM_001407971.1:c.127delT
  • NM_001407972.1:c.127delT
  • NM_001407973.1:c.127delT
  • NM_001407974.1:c.127delT
  • NM_001407975.1:c.127delT
  • NM_001407976.1:c.127delT
  • NM_001407977.1:c.127delT
  • NM_001407978.1:c.127delT
  • NM_001407979.1:c.127delT
  • NM_001407980.1:c.127delT
  • NM_001407981.1:c.127delT
  • NM_001407982.1:c.127delT
  • NM_001407983.1:c.127delT
  • NM_001407984.1:c.127delT
  • NM_001407985.1:c.127delT
  • NM_001407986.1:c.127delT
  • NM_001407990.1:c.127delT
  • NM_001407991.1:c.127delT
  • NM_001407992.1:c.127delT
  • NM_001407993.1:c.127delT
  • NM_001408392.1:c.127delT
  • NM_001408396.1:c.127delT
  • NM_001408397.1:c.127delT
  • NM_001408398.1:c.127delT
  • NM_001408399.1:c.127delT
  • NM_001408400.1:c.127delT
  • NM_001408401.1:c.127delT
  • NM_001408402.1:c.127delT
  • NM_001408403.1:c.127delT
  • NM_001408404.1:c.127delT
  • NM_001408406.1:c.127delT
  • NM_001408407.1:c.127delT
  • NM_001408408.1:c.127delT
  • NM_001408409.1:c.127delT
  • NM_001408410.1:c.-15delT
  • NM_001408411.1:c.127delT
  • NM_001408412.1:c.127delT
  • NM_001408413.1:c.127delT
  • NM_001408414.1:c.127delT
  • NM_001408415.1:c.127delT
  • NM_001408416.1:c.127delT
  • NM_001408418.1:c.127delT
  • NM_001408419.1:c.127delT
  • NM_001408420.1:c.127delT
  • NM_001408421.1:c.127delT
  • NM_001408422.1:c.127delT
  • NM_001408423.1:c.127delT
  • NM_001408424.1:c.127delT
  • NM_001408425.1:c.127delT
  • NM_001408426.1:c.127delT
  • NM_001408427.1:c.127delT
  • NM_001408428.1:c.127delT
  • NM_001408429.1:c.127delT
  • NM_001408430.1:c.127delT
  • NM_001408431.1:c.127delT
  • NM_001408432.1:c.127delT
  • NM_001408433.1:c.127delT
  • NM_001408434.1:c.127delT
  • NM_001408435.1:c.127delT
  • NM_001408436.1:c.127delT
  • NM_001408437.1:c.127delT
  • NM_001408438.1:c.127delT
  • NM_001408439.1:c.127delT
  • NM_001408440.1:c.127delT
  • NM_001408441.1:c.127delT
  • NM_001408442.1:c.127delT
  • NM_001408443.1:c.127delT
  • NM_001408444.1:c.127delT
  • NM_001408445.1:c.127delT
  • NM_001408446.1:c.127delT
  • NM_001408447.1:c.127delT
  • NM_001408448.1:c.127delT
  • NM_001408450.1:c.127delT
  • NM_001408452.1:c.-15delT
  • NM_001408453.1:c.-15delT
  • NM_001408455.1:c.-131delT
  • NM_001408456.1:c.-131delT
  • NM_001408458.1:c.-15delT
  • NM_001408462.1:c.-15delT
  • NM_001408463.1:c.-15delT
  • NM_001408465.1:c.-135delT
  • NM_001408466.1:c.-15delT
  • NM_001408468.1:c.-131delT
  • NM_001408469.1:c.-15delT
  • NM_001408470.1:c.-15delT
  • NM_001408472.1:c.127delT
  • NM_001408473.1:c.127delT
  • NM_001408474.1:c.127delT
  • NM_001408475.1:c.127delT
  • NM_001408476.1:c.127delT
  • NM_001408478.1:c.-62delT
  • NM_001408479.1:c.-62delT
  • NM_001408480.1:c.-62delT
  • NM_001408481.1:c.-62delT
  • NM_001408482.1:c.-62delT
  • NM_001408483.1:c.-62delT
  • NM_001408484.1:c.-62delT
  • NM_001408485.1:c.-62delT
  • NM_001408489.1:c.-62delT
  • NM_001408490.1:c.-62delT
  • NM_001408491.1:c.-62delT
  • NM_001408492.1:c.-178delT
  • NM_001408493.1:c.-62delT
  • NM_001408494.1:c.127delT
  • NM_001408495.1:c.127delT
  • NM_001408497.1:c.-15delT
  • NM_001408499.1:c.-15delT
  • NM_001408500.1:c.-15delT
  • NM_001408501.1:c.-131delT
  • NM_001408502.1:c.-62delT
  • NM_001408503.1:c.-15delT
  • NM_001408504.1:c.-15delT
  • NM_001408505.1:c.-15delT
  • NM_001408506.1:c.-62delT
  • NM_001408507.1:c.-62delT
  • NM_001408508.1:c.-62delT
  • NM_001408509.1:c.-62delT
  • NM_001408510.1:c.-177delT
  • NM_001408512.1:c.-177delT
  • NM_001408513.1:c.-62delT
  • NM_001408514.1:c.-62delT
  • NM_007294.4:c.130delMANE SELECT
  • NM_007297.4:c.-8+8287del
  • NM_007298.4:c.127delT
  • NM_007299.4:c.130del
  • NM_007300.4:c.130del
  • NM_007304.2:c.127delT
  • NP_001394510.1:p.Cys44Alafs
  • NP_001394511.1:p.Cys44Alafs
  • NP_001394512.1:p.Cys44Alafs
  • NP_001394514.1:p.Cys44Alafs
  • NP_001394516.1:p.Cys44Alafs
  • NP_001394519.1:p.Cys44Alafs
  • NP_001394520.1:p.Cys44Alafs
  • NP_001394522.1:p.Cys44Alafs
  • NP_001394523.1:p.Cys44Alafs
  • NP_001394525.1:p.Cys44Alafs
  • NP_001394526.1:p.Cys44Alafs
  • NP_001394527.1:p.Cys44Alafs
  • NP_001394531.1:p.Cys44Alafs
  • NP_001394532.1:p.Cys44Alafs
  • NP_001394534.1:p.Cys44Alafs
  • NP_001394539.1:p.Cys44Alafs
  • NP_001394540.1:p.Cys44Alafs
  • NP_001394541.1:p.Cys44Alafs
  • NP_001394542.1:p.Cys44Alafs
  • NP_001394543.1:p.Cys44Alafs
  • NP_001394544.1:p.Cys44Alafs
  • NP_001394545.1:p.Cys44Alafs
  • NP_001394546.1:p.Cys44Alafs
  • NP_001394547.1:p.Cys44Alafs
  • NP_001394548.1:p.Cys44Alafs
  • NP_001394549.1:p.Cys44Alafs
  • NP_001394550.1:p.Cys44Alafs
  • NP_001394551.1:p.Cys44Alafs
  • NP_001394552.1:p.Cys44Alafs
  • NP_001394553.1:p.Cys44Alafs
  • NP_001394554.1:p.Cys44Alafs
  • NP_001394555.1:p.Cys44Alafs
  • NP_001394556.1:p.Cys44Alafs
  • NP_001394557.1:p.Cys44Alafs
  • NP_001394558.1:p.Cys44Alafs
  • NP_001394559.1:p.Cys44Alafs
  • NP_001394560.1:p.Cys44Alafs
  • NP_001394561.1:p.Cys44Alafs
  • NP_001394562.1:p.Cys44Alafs
  • NP_001394563.1:p.Cys44Alafs
  • NP_001394564.1:p.Cys44Alafs
  • NP_001394565.1:p.Cys44Alafs
  • NP_001394566.1:p.Cys44Alafs
  • NP_001394567.1:p.Cys44Alafs
  • NP_001394568.1:p.Cys44Alafs
  • NP_001394569.1:p.Cys44Alafs
  • NP_001394570.1:p.Cys44Alafs
  • NP_001394571.1:p.Cys44Alafs
  • NP_001394573.1:p.Cys44Alafs
  • NP_001394574.1:p.Cys44Alafs
  • NP_001394575.1:p.Cys44Alafs
  • NP_001394576.1:p.Cys44Alafs
  • NP_001394577.1:p.Cys44Alafs
  • NP_001394578.1:p.Cys44Alafs
  • NP_001394581.1:p.Cys44Alafs
  • NP_001394582.1:p.Cys44Alafs
  • NP_001394583.1:p.Cys44Alafs
  • NP_001394584.1:p.Cys44Alafs
  • NP_001394585.1:p.Cys44Alafs
  • NP_001394586.1:p.Cys44Alafs
  • NP_001394587.1:p.Cys44Alafs
  • NP_001394588.1:p.Cys44Alafs
  • NP_001394589.1:p.Cys44Alafs
  • NP_001394590.1:p.Cys44Alafs
  • NP_001394591.1:p.Cys44Alafs
  • NP_001394592.1:p.Cys44Alafs
  • NP_001394593.1:p.Cys44Alafs
  • NP_001394594.1:p.Cys44Alafs
  • NP_001394595.1:p.Cys44Alafs
  • NP_001394596.1:p.Cys44Alafs
  • NP_001394597.1:p.Cys44Alafs
  • NP_001394598.1:p.Cys44Alafs
  • NP_001394599.1:p.Cys44Alafs
  • NP_001394600.1:p.Cys44Alafs
  • NP_001394601.1:p.Cys44Alafs
  • NP_001394602.1:p.Cys44Alafs
  • NP_001394603.1:p.Cys44Alafs
  • NP_001394604.1:p.Cys44Alafs
  • NP_001394605.1:p.Cys44Alafs
  • NP_001394606.1:p.Cys44Alafs
  • NP_001394607.1:p.Cys44Alafs
  • NP_001394608.1:p.Cys44Alafs
  • NP_001394609.1:p.Cys44Alafs
  • NP_001394610.1:p.Cys44Alafs
  • NP_001394611.1:p.Cys44Alafs
  • NP_001394612.1:p.Cys44Alafs
  • NP_001394613.1:p.Cys44Alafs
  • NP_001394614.1:p.Cys44Alafs
  • NP_001394615.1:p.Cys44Alafs
  • NP_001394616.1:p.Cys44Alafs
  • NP_001394617.1:p.Cys44Alafs
  • NP_001394618.1:p.Cys44Alafs
  • NP_001394619.1:p.Cys44Alafs
  • NP_001394620.1:p.Cys44Alafs
  • NP_001394783.1:p.Cys44Alafs
  • NP_001394787.1:p.Cys44Alafs
  • NP_001394788.1:p.Cys44Alafs
  • NP_001394789.1:p.Cys44Alafs
  • NP_001394790.1:p.Cys44Alafs
  • NP_001394791.1:p.Cys44Alafs
  • NP_001394792.1:p.Cys44Alafs
  • NP_001394803.1:p.Cys44Alafs
  • NP_001394804.1:p.Cys44Alafs
  • NP_001394848.1:p.Cys44Alafs
  • NP_001394866.1:p.Cys44Alafs
  • NP_001394867.1:p.Cys44Alafs
  • NP_001394868.1:p.Cys44Alafs
  • NP_001394869.1:p.Cys44Alafs
  • NP_001394870.1:p.Cys44Alafs
  • NP_001394897.1:p.Cys44Alafs
  • NP_001394898.1:p.Cys44Alafs
  • NP_001394899.1:p.Cys44Alafs
  • NP_001394900.1:p.Cys44Alafs
  • NP_001394901.1:p.Cys44Alafs
  • NP_001394902.1:p.Cys44Alafs
  • NP_001394903.1:p.Cys44Alafs
  • NP_001394904.1:p.Cys44Alafs
  • NP_001394905.1:p.Cys44Alafs
  • NP_001394906.1:p.Cys44Alafs
  • NP_001394907.1:p.Cys44Alafs
  • NP_001394908.1:p.Cys44Alafs
  • NP_001394909.1:p.Cys44Alafs
  • NP_001394910.1:p.Cys44Alafs
  • NP_001394911.1:p.Cys44Alafs
  • NP_001394912.1:p.Cys44Alafs
  • NP_001394913.1:p.Cys44Alafs
  • NP_001394914.1:p.Cys44Alafs
  • NP_001394915.1:p.Cys44Alafs
  • NP_001394919.1:p.Cys44Alafs
  • NP_001394920.1:p.Cys44Alafs
  • NP_001394921.1:p.Cys44Alafs
  • NP_001394922.1:p.Cys44Alafs
  • NP_001395321.1:p.Cys44Alafs
  • NP_001395325.1:p.Cys44Alafs
  • NP_001395326.1:p.Cys44Alafs
  • NP_001395327.1:p.Cys44Alafs
  • NP_001395328.1:p.Cys44Alafs
  • NP_001395329.1:p.Cys44Alafs
  • NP_001395330.1:p.Cys44Alafs
  • NP_001395331.1:p.Cys44Alafs
  • NP_001395332.1:p.Cys44Alafs
  • NP_001395333.1:p.Cys44Alafs
  • NP_001395335.1:p.Cys44Alafs
  • NP_001395336.1:p.Cys44Alafs
  • NP_001395337.1:p.Cys44Alafs
  • NP_001395338.1:p.Cys44Alafs
  • NP_001395340.1:p.Cys44Alafs
  • NP_001395341.1:p.Cys44Alafs
  • NP_001395342.1:p.Cys44Alafs
  • NP_001395343.1:p.Cys44Alafs
  • NP_001395344.1:p.Cys44Alafs
  • NP_001395345.1:p.Cys44Alafs
  • NP_001395347.1:p.Cys44Alafs
  • NP_001395348.1:p.Cys44Alafs
  • NP_001395349.1:p.Cys44Alafs
  • NP_001395350.1:p.Cys44Alafs
  • NP_001395351.1:p.Cys44Alafs
  • NP_001395352.1:p.Cys44Alafs
  • NP_001395353.1:p.Cys44Alafs
  • NP_001395354.1:p.Cys44Alafs
  • NP_001395355.1:p.Cys44Alafs
  • NP_001395356.1:p.Cys44Alafs
  • NP_001395357.1:p.Cys44Alafs
  • NP_001395358.1:p.Cys44Alafs
  • NP_001395359.1:p.Cys44Alafs
  • NP_001395360.1:p.Cys44Alafs
  • NP_001395361.1:p.Cys44Alafs
  • NP_001395362.1:p.Cys44Alafs
  • NP_001395363.1:p.Cys44Alafs
  • NP_001395364.1:p.Cys44Alafs
  • NP_001395365.1:p.Cys44Alafs
  • NP_001395366.1:p.Cys44Alafs
  • NP_001395367.1:p.Cys44Alafs
  • NP_001395368.1:p.Cys44Alafs
  • NP_001395369.1:p.Cys44Alafs
  • NP_001395370.1:p.Cys44Alafs
  • NP_001395371.1:p.Cys44Alafs
  • NP_001395372.1:p.Cys44Alafs
  • NP_001395373.1:p.Cys44Alafs
  • NP_001395374.1:p.Cys44Alafs
  • NP_001395375.1:p.Cys44Alafs
  • NP_001395376.1:p.Cys44Alafs
  • NP_001395377.1:p.Cys44Alafs
  • NP_001395379.1:p.Cys44Alafs
  • NP_001395401.1:p.Cys44Alafs
  • NP_001395402.1:p.Cys44Alafs
  • NP_001395403.1:p.Cys44Alafs
  • NP_001395404.1:p.Cys44Alafs
  • NP_001395405.1:p.Cys44Alafs
  • NP_001395423.1:p.Cys44Alafs
  • NP_001395424.1:p.Cys44Alafs
  • NP_009225.1:p.Cys44Alafs
  • NP_009225.1:p.Cys44fs
  • NP_009229.2:p.Cys44Alafs
  • NP_009229.2:p.Cys44fs
  • NP_009230.2:p.Cys44fs
  • NP_009231.2:p.Cys44fs
  • NP_009235.2:p.Cys44Alafs
  • LRG_292t1:c.127del
  • LRG_292:g.102254del
  • LRG_292p1:p.Cys44Alafs
  • NC_000017.10:g.41267747del
  • NC_000017.10:g.41267747delA
  • NC_000017.10:g.41267750del
  • NM_007294.3:c.127delT
  • NM_007294.3:c.130delT
  • NM_007298.3:c.130del
  • NR_027676.2:n.332del
  • U14680.1:n.249delT
Nucleotide change:
249DELT
Protein change:
C44fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 249&base_change=del T; dbSNP: rs80357951
NCBI 1000 Genomes Browser:
rs80357951
Molecular consequence:
  • NM_001407581.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.130del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.127delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.-8+8287del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.332del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000587016Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

SCV001584921Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 17, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PubMed [citation]
PMID:
21520333
See all PubMed Citations (3)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587016.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001584921.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Cys44Alafs*6) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with BRCA1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 54194). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 8, 2024