U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.124del (p.Ile42fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 28, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002399409.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.124del (p.Ile42fs)]

NM_007294.4(BRCA1):c.124del (p.Ile42fs)

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.124del (p.Ile42fs)
Other names:
243delA
HGVS:
  • NC_000017.11:g.43115736del
  • NG_005905.2:g.102248del
  • NM_001407571.1:c.-65delA
  • NM_001407581.1:c.124delA
  • NM_001407582.1:c.124delA
  • NM_001407583.1:c.124delA
  • NM_001407585.1:c.124delA
  • NM_001407587.1:c.124delA
  • NM_001407590.1:c.124delA
  • NM_001407591.1:c.124delA
  • NM_001407593.1:c.124delA
  • NM_001407594.1:c.124delA
  • NM_001407596.1:c.124delA
  • NM_001407597.1:c.124delA
  • NM_001407598.1:c.124delA
  • NM_001407602.1:c.124delA
  • NM_001407603.1:c.124delA
  • NM_001407605.1:c.124delA
  • NM_001407610.1:c.124delA
  • NM_001407611.1:c.124delA
  • NM_001407612.1:c.124delA
  • NM_001407613.1:c.124delA
  • NM_001407614.1:c.124delA
  • NM_001407615.1:c.124delA
  • NM_001407616.1:c.124delA
  • NM_001407617.1:c.124delA
  • NM_001407618.1:c.124delA
  • NM_001407619.1:c.124delA
  • NM_001407620.1:c.124delA
  • NM_001407621.1:c.124delA
  • NM_001407622.1:c.124delA
  • NM_001407623.1:c.124delA
  • NM_001407624.1:c.124delA
  • NM_001407625.1:c.124delA
  • NM_001407626.1:c.124delA
  • NM_001407627.1:c.124delA
  • NM_001407628.1:c.124delA
  • NM_001407629.1:c.124delA
  • NM_001407630.1:c.124delA
  • NM_001407631.1:c.124delA
  • NM_001407632.1:c.124delA
  • NM_001407633.1:c.124delA
  • NM_001407634.1:c.124delA
  • NM_001407635.1:c.124delA
  • NM_001407636.1:c.124delA
  • NM_001407637.1:c.124delA
  • NM_001407638.1:c.124delA
  • NM_001407639.1:c.124delA
  • NM_001407640.1:c.124delA
  • NM_001407641.1:c.124delA
  • NM_001407642.1:c.124delA
  • NM_001407644.1:c.124delA
  • NM_001407645.1:c.124delA
  • NM_001407646.1:c.124delA
  • NM_001407647.1:c.124delA
  • NM_001407648.1:c.124delA
  • NM_001407649.1:c.124delA
  • NM_001407652.1:c.124delA
  • NM_001407653.1:c.124delA
  • NM_001407654.1:c.124delA
  • NM_001407655.1:c.124delA
  • NM_001407656.1:c.124delA
  • NM_001407657.1:c.124delA
  • NM_001407658.1:c.124delA
  • NM_001407659.1:c.124delA
  • NM_001407660.1:c.124delA
  • NM_001407661.1:c.124delA
  • NM_001407662.1:c.124delA
  • NM_001407663.1:c.124delA
  • NM_001407664.1:c.124delA
  • NM_001407665.1:c.124delA
  • NM_001407666.1:c.124delA
  • NM_001407667.1:c.124delA
  • NM_001407668.1:c.124delA
  • NM_001407669.1:c.124delA
  • NM_001407670.1:c.124delA
  • NM_001407671.1:c.124delA
  • NM_001407672.1:c.124delA
  • NM_001407673.1:c.124delA
  • NM_001407674.1:c.124delA
  • NM_001407675.1:c.124delA
  • NM_001407676.1:c.124delA
  • NM_001407677.1:c.124delA
  • NM_001407678.1:c.124delA
  • NM_001407679.1:c.124delA
  • NM_001407680.1:c.124delA
  • NM_001407681.1:c.124delA
  • NM_001407682.1:c.124delA
  • NM_001407683.1:c.124delA
  • NM_001407684.1:c.124delA
  • NM_001407685.1:c.124delA
  • NM_001407686.1:c.124delA
  • NM_001407687.1:c.124delA
  • NM_001407688.1:c.124delA
  • NM_001407689.1:c.124delA
  • NM_001407690.1:c.124delA
  • NM_001407691.1:c.124delA
  • NM_001407694.1:c.-134delA
  • NM_001407695.1:c.-138delA
  • NM_001407696.1:c.-134delA
  • NM_001407697.1:c.-18delA
  • NM_001407724.1:c.-134delA
  • NM_001407725.1:c.-18delA
  • NM_001407727.1:c.-134delA
  • NM_001407728.1:c.-18delA
  • NM_001407729.1:c.-18delA
  • NM_001407730.1:c.-18delA
  • NM_001407731.1:c.-134delA
  • NM_001407733.1:c.-134delA
  • NM_001407734.1:c.-18delA
  • NM_001407735.1:c.-18delA
  • NM_001407737.1:c.-18delA
  • NM_001407739.1:c.-18delA
  • NM_001407740.1:c.-18delA
  • NM_001407741.1:c.-18delA
  • NM_001407743.1:c.-18delA
  • NM_001407745.1:c.-18delA
  • NM_001407746.1:c.-134delA
  • NM_001407748.1:c.-18delA
  • NM_001407749.1:c.-134delA
  • NM_001407752.1:c.-18delA
  • NM_001407838.1:c.-18delA
  • NM_001407839.1:c.-18delA
  • NM_001407841.1:c.-14delA
  • NM_001407842.1:c.-134delA
  • NM_001407843.1:c.-134delA
  • NM_001407844.1:c.-18delA
  • NM_001407846.1:c.-18delA
  • NM_001407847.1:c.-18delA
  • NM_001407848.1:c.-18delA
  • NM_001407850.1:c.-18delA
  • NM_001407851.1:c.-18delA
  • NM_001407853.1:c.-65delA
  • NM_001407854.1:c.124delA
  • NM_001407858.1:c.124delA
  • NM_001407859.1:c.124delA
  • NM_001407860.1:c.124delA
  • NM_001407861.1:c.124delA
  • NM_001407862.1:c.124delA
  • NM_001407863.1:c.124delA
  • NM_001407874.1:c.124delA
  • NM_001407875.1:c.124delA
  • NM_001407879.1:c.-65delA
  • NM_001407882.1:c.-65delA
  • NM_001407884.1:c.-65delA
  • NM_001407885.1:c.-65delA
  • NM_001407886.1:c.-65delA
  • NM_001407887.1:c.-65delA
  • NM_001407889.1:c.-181delA
  • NM_001407894.1:c.-65delA
  • NM_001407895.1:c.-65delA
  • NM_001407896.1:c.-65delA
  • NM_001407897.1:c.-65delA
  • NM_001407899.1:c.-65delA
  • NM_001407900.1:c.-181delA
  • NM_001407904.1:c.-65delA
  • NM_001407906.1:c.-65delA
  • NM_001407907.1:c.-65delA
  • NM_001407908.1:c.-65delA
  • NM_001407909.1:c.-65delA
  • NM_001407910.1:c.-65delA
  • NM_001407915.1:c.-65delA
  • NM_001407916.1:c.-65delA
  • NM_001407917.1:c.-65delA
  • NM_001407918.1:c.-65delA
  • NM_001407919.1:c.124delA
  • NM_001407920.1:c.-18delA
  • NM_001407921.1:c.-18delA
  • NM_001407922.1:c.-18delA
  • NM_001407923.1:c.-18delA
  • NM_001407926.1:c.-18delA
  • NM_001407927.1:c.-18delA
  • NM_001407930.1:c.-134delA
  • NM_001407933.1:c.-18delA
  • NM_001407934.1:c.-18delA
  • NM_001407935.1:c.-18delA
  • NM_001407937.1:c.124delA
  • NM_001407938.1:c.124delA
  • NM_001407939.1:c.124delA
  • NM_001407940.1:c.124delA
  • NM_001407941.1:c.124delA
  • NM_001407942.1:c.-134delA
  • NM_001407943.1:c.-18delA
  • NM_001407944.1:c.-18delA
  • NM_001407946.1:c.-65delA
  • NM_001407947.1:c.-65delA
  • NM_001407948.1:c.-65delA
  • NM_001407949.1:c.-65delA
  • NM_001407950.1:c.-65delA
  • NM_001407951.1:c.-65delA
  • NM_001407952.1:c.-65delA
  • NM_001407953.1:c.-65delA
  • NM_001407954.1:c.-65delA
  • NM_001407955.1:c.-65delA
  • NM_001407956.1:c.-65delA
  • NM_001407957.1:c.-65delA
  • NM_001407958.1:c.-65delA
  • NM_001407960.1:c.-180delA
  • NM_001407962.1:c.-180delA
  • NM_001407964.1:c.-18delA
  • NM_001407965.1:c.-296delA
  • NM_001407968.1:c.124delA
  • NM_001407969.1:c.124delA
  • NM_001407970.1:c.124delA
  • NM_001407971.1:c.124delA
  • NM_001407972.1:c.124delA
  • NM_001407973.1:c.124delA
  • NM_001407974.1:c.124delA
  • NM_001407975.1:c.124delA
  • NM_001407976.1:c.124delA
  • NM_001407977.1:c.124delA
  • NM_001407978.1:c.124delA
  • NM_001407979.1:c.124delA
  • NM_001407980.1:c.124delA
  • NM_001407981.1:c.124delA
  • NM_001407982.1:c.124delA
  • NM_001407983.1:c.124delA
  • NM_001407984.1:c.124delA
  • NM_001407985.1:c.124delA
  • NM_001407986.1:c.124delA
  • NM_001407990.1:c.124delA
  • NM_001407991.1:c.124delA
  • NM_001407992.1:c.124delA
  • NM_001407993.1:c.124delA
  • NM_001408392.1:c.124delA
  • NM_001408396.1:c.124delA
  • NM_001408397.1:c.124delA
  • NM_001408398.1:c.124delA
  • NM_001408399.1:c.124delA
  • NM_001408400.1:c.124delA
  • NM_001408401.1:c.124delA
  • NM_001408402.1:c.124delA
  • NM_001408403.1:c.124delA
  • NM_001408404.1:c.124delA
  • NM_001408406.1:c.124delA
  • NM_001408407.1:c.124delA
  • NM_001408408.1:c.124delA
  • NM_001408409.1:c.124delA
  • NM_001408410.1:c.-18delA
  • NM_001408411.1:c.124delA
  • NM_001408412.1:c.124delA
  • NM_001408413.1:c.124delA
  • NM_001408414.1:c.124delA
  • NM_001408415.1:c.124delA
  • NM_001408416.1:c.124delA
  • NM_001408418.1:c.124delA
  • NM_001408419.1:c.124delA
  • NM_001408420.1:c.124delA
  • NM_001408421.1:c.124delA
  • NM_001408422.1:c.124delA
  • NM_001408423.1:c.124delA
  • NM_001408424.1:c.124delA
  • NM_001408425.1:c.124delA
  • NM_001408426.1:c.124delA
  • NM_001408427.1:c.124delA
  • NM_001408428.1:c.124delA
  • NM_001408429.1:c.124delA
  • NM_001408430.1:c.124delA
  • NM_001408431.1:c.124delA
  • NM_001408432.1:c.124delA
  • NM_001408433.1:c.124delA
  • NM_001408434.1:c.124delA
  • NM_001408435.1:c.124delA
  • NM_001408436.1:c.124delA
  • NM_001408437.1:c.124delA
  • NM_001408438.1:c.124delA
  • NM_001408439.1:c.124delA
  • NM_001408440.1:c.124delA
  • NM_001408441.1:c.124delA
  • NM_001408442.1:c.124delA
  • NM_001408443.1:c.124delA
  • NM_001408444.1:c.124delA
  • NM_001408445.1:c.124delA
  • NM_001408446.1:c.124delA
  • NM_001408447.1:c.124delA
  • NM_001408448.1:c.124delA
  • NM_001408450.1:c.124delA
  • NM_001408452.1:c.-18delA
  • NM_001408453.1:c.-18delA
  • NM_001408455.1:c.-134delA
  • NM_001408456.1:c.-134delA
  • NM_001408458.1:c.-18delA
  • NM_001408462.1:c.-18delA
  • NM_001408463.1:c.-18delA
  • NM_001408465.1:c.-138delA
  • NM_001408466.1:c.-18delA
  • NM_001408468.1:c.-134delA
  • NM_001408469.1:c.-18delA
  • NM_001408470.1:c.-18delA
  • NM_001408472.1:c.124delA
  • NM_001408473.1:c.124delA
  • NM_001408474.1:c.124delA
  • NM_001408475.1:c.124delA
  • NM_001408476.1:c.124delA
  • NM_001408478.1:c.-65delA
  • NM_001408479.1:c.-65delA
  • NM_001408480.1:c.-65delA
  • NM_001408481.1:c.-65delA
  • NM_001408482.1:c.-65delA
  • NM_001408483.1:c.-65delA
  • NM_001408484.1:c.-65delA
  • NM_001408485.1:c.-65delA
  • NM_001408489.1:c.-65delA
  • NM_001408490.1:c.-65delA
  • NM_001408491.1:c.-65delA
  • NM_001408492.1:c.-181delA
  • NM_001408493.1:c.-65delA
  • NM_001408494.1:c.124delA
  • NM_001408495.1:c.124delA
  • NM_001408497.1:c.-18delA
  • NM_001408499.1:c.-18delA
  • NM_001408500.1:c.-18delA
  • NM_001408501.1:c.-134delA
  • NM_001408502.1:c.-65delA
  • NM_001408503.1:c.-18delA
  • NM_001408504.1:c.-18delA
  • NM_001408505.1:c.-18delA
  • NM_001408506.1:c.-65delA
  • NM_001408507.1:c.-65delA
  • NM_001408508.1:c.-65delA
  • NM_001408509.1:c.-65delA
  • NM_001408510.1:c.-180delA
  • NM_001408512.1:c.-180delA
  • NM_001408513.1:c.-65delA
  • NM_001408514.1:c.-65delA
  • NM_007294.4:c.124delMANE SELECT
  • NM_007297.4:c.-8+8281del
  • NM_007298.4:c.124delA
  • NM_007299.4:c.124del
  • NM_007300.4:c.124del
  • NM_007304.2:c.124delA
  • NP_001394510.1:p.Ile42Tyrfs
  • NP_001394511.1:p.Ile42Tyrfs
  • NP_001394512.1:p.Ile42Tyrfs
  • NP_001394514.1:p.Ile42Tyrfs
  • NP_001394516.1:p.Ile42Tyrfs
  • NP_001394519.1:p.Ile42Tyrfs
  • NP_001394520.1:p.Ile42Tyrfs
  • NP_001394522.1:p.Ile42Tyrfs
  • NP_001394523.1:p.Ile42Tyrfs
  • NP_001394525.1:p.Ile42Tyrfs
  • NP_001394526.1:p.Ile42Tyrfs
  • NP_001394527.1:p.Ile42Tyrfs
  • NP_001394531.1:p.Ile42Tyrfs
  • NP_001394532.1:p.Ile42Tyrfs
  • NP_001394534.1:p.Ile42Tyrfs
  • NP_001394539.1:p.Ile42Tyrfs
  • NP_001394540.1:p.Ile42Tyrfs
  • NP_001394541.1:p.Ile42Tyrfs
  • NP_001394542.1:p.Ile42Tyrfs
  • NP_001394543.1:p.Ile42Tyrfs
  • NP_001394544.1:p.Ile42Tyrfs
  • NP_001394545.1:p.Ile42Tyrfs
  • NP_001394546.1:p.Ile42Tyrfs
  • NP_001394547.1:p.Ile42Tyrfs
  • NP_001394548.1:p.Ile42Tyrfs
  • NP_001394549.1:p.Ile42Tyrfs
  • NP_001394550.1:p.Ile42Tyrfs
  • NP_001394551.1:p.Ile42Tyrfs
  • NP_001394552.1:p.Ile42Tyrfs
  • NP_001394553.1:p.Ile42Tyrfs
  • NP_001394554.1:p.Ile42Tyrfs
  • NP_001394555.1:p.Ile42Tyrfs
  • NP_001394556.1:p.Ile42Tyrfs
  • NP_001394557.1:p.Ile42Tyrfs
  • NP_001394558.1:p.Ile42Tyrfs
  • NP_001394559.1:p.Ile42Tyrfs
  • NP_001394560.1:p.Ile42Tyrfs
  • NP_001394561.1:p.Ile42Tyrfs
  • NP_001394562.1:p.Ile42Tyrfs
  • NP_001394563.1:p.Ile42Tyrfs
  • NP_001394564.1:p.Ile42Tyrfs
  • NP_001394565.1:p.Ile42Tyrfs
  • NP_001394566.1:p.Ile42Tyrfs
  • NP_001394567.1:p.Ile42Tyrfs
  • NP_001394568.1:p.Ile42Tyrfs
  • NP_001394569.1:p.Ile42Tyrfs
  • NP_001394570.1:p.Ile42Tyrfs
  • NP_001394571.1:p.Ile42Tyrfs
  • NP_001394573.1:p.Ile42Tyrfs
  • NP_001394574.1:p.Ile42Tyrfs
  • NP_001394575.1:p.Ile42Tyrfs
  • NP_001394576.1:p.Ile42Tyrfs
  • NP_001394577.1:p.Ile42Tyrfs
  • NP_001394578.1:p.Ile42Tyrfs
  • NP_001394581.1:p.Ile42Tyrfs
  • NP_001394582.1:p.Ile42Tyrfs
  • NP_001394583.1:p.Ile42Tyrfs
  • NP_001394584.1:p.Ile42Tyrfs
  • NP_001394585.1:p.Ile42Tyrfs
  • NP_001394586.1:p.Ile42Tyrfs
  • NP_001394587.1:p.Ile42Tyrfs
  • NP_001394588.1:p.Ile42Tyrfs
  • NP_001394589.1:p.Ile42Tyrfs
  • NP_001394590.1:p.Ile42Tyrfs
  • NP_001394591.1:p.Ile42Tyrfs
  • NP_001394592.1:p.Ile42Tyrfs
  • NP_001394593.1:p.Ile42Tyrfs
  • NP_001394594.1:p.Ile42Tyrfs
  • NP_001394595.1:p.Ile42Tyrfs
  • NP_001394596.1:p.Ile42Tyrfs
  • NP_001394597.1:p.Ile42Tyrfs
  • NP_001394598.1:p.Ile42Tyrfs
  • NP_001394599.1:p.Ile42Tyrfs
  • NP_001394600.1:p.Ile42Tyrfs
  • NP_001394601.1:p.Ile42Tyrfs
  • NP_001394602.1:p.Ile42Tyrfs
  • NP_001394603.1:p.Ile42Tyrfs
  • NP_001394604.1:p.Ile42Tyrfs
  • NP_001394605.1:p.Ile42Tyrfs
  • NP_001394606.1:p.Ile42Tyrfs
  • NP_001394607.1:p.Ile42Tyrfs
  • NP_001394608.1:p.Ile42Tyrfs
  • NP_001394609.1:p.Ile42Tyrfs
  • NP_001394610.1:p.Ile42Tyrfs
  • NP_001394611.1:p.Ile42Tyrfs
  • NP_001394612.1:p.Ile42Tyrfs
  • NP_001394613.1:p.Ile42Tyrfs
  • NP_001394614.1:p.Ile42Tyrfs
  • NP_001394615.1:p.Ile42Tyrfs
  • NP_001394616.1:p.Ile42Tyrfs
  • NP_001394617.1:p.Ile42Tyrfs
  • NP_001394618.1:p.Ile42Tyrfs
  • NP_001394619.1:p.Ile42Tyrfs
  • NP_001394620.1:p.Ile42Tyrfs
  • NP_001394783.1:p.Ile42Tyrfs
  • NP_001394787.1:p.Ile42Tyrfs
  • NP_001394788.1:p.Ile42Tyrfs
  • NP_001394789.1:p.Ile42Tyrfs
  • NP_001394790.1:p.Ile42Tyrfs
  • NP_001394791.1:p.Ile42Tyrfs
  • NP_001394792.1:p.Ile42Tyrfs
  • NP_001394803.1:p.Ile42Tyrfs
  • NP_001394804.1:p.Ile42Tyrfs
  • NP_001394848.1:p.Ile42Tyrfs
  • NP_001394866.1:p.Ile42Tyrfs
  • NP_001394867.1:p.Ile42Tyrfs
  • NP_001394868.1:p.Ile42Tyrfs
  • NP_001394869.1:p.Ile42Tyrfs
  • NP_001394870.1:p.Ile42Tyrfs
  • NP_001394897.1:p.Ile42Tyrfs
  • NP_001394898.1:p.Ile42Tyrfs
  • NP_001394899.1:p.Ile42Tyrfs
  • NP_001394900.1:p.Ile42Tyrfs
  • NP_001394901.1:p.Ile42Tyrfs
  • NP_001394902.1:p.Ile42Tyrfs
  • NP_001394903.1:p.Ile42Tyrfs
  • NP_001394904.1:p.Ile42Tyrfs
  • NP_001394905.1:p.Ile42Tyrfs
  • NP_001394906.1:p.Ile42Tyrfs
  • NP_001394907.1:p.Ile42Tyrfs
  • NP_001394908.1:p.Ile42Tyrfs
  • NP_001394909.1:p.Ile42Tyrfs
  • NP_001394910.1:p.Ile42Tyrfs
  • NP_001394911.1:p.Ile42Tyrfs
  • NP_001394912.1:p.Ile42Tyrfs
  • NP_001394913.1:p.Ile42Tyrfs
  • NP_001394914.1:p.Ile42Tyrfs
  • NP_001394915.1:p.Ile42Tyrfs
  • NP_001394919.1:p.Ile42Tyrfs
  • NP_001394920.1:p.Ile42Tyrfs
  • NP_001394921.1:p.Ile42Tyrfs
  • NP_001394922.1:p.Ile42Tyrfs
  • NP_001395321.1:p.Ile42Tyrfs
  • NP_001395325.1:p.Ile42Tyrfs
  • NP_001395326.1:p.Ile42Tyrfs
  • NP_001395327.1:p.Ile42Tyrfs
  • NP_001395328.1:p.Ile42Tyrfs
  • NP_001395329.1:p.Ile42Tyrfs
  • NP_001395330.1:p.Ile42Tyrfs
  • NP_001395331.1:p.Ile42Tyrfs
  • NP_001395332.1:p.Ile42Tyrfs
  • NP_001395333.1:p.Ile42Tyrfs
  • NP_001395335.1:p.Ile42Tyrfs
  • NP_001395336.1:p.Ile42Tyrfs
  • NP_001395337.1:p.Ile42Tyrfs
  • NP_001395338.1:p.Ile42Tyrfs
  • NP_001395340.1:p.Ile42Tyrfs
  • NP_001395341.1:p.Ile42Tyrfs
  • NP_001395342.1:p.Ile42Tyrfs
  • NP_001395343.1:p.Ile42Tyrfs
  • NP_001395344.1:p.Ile42Tyrfs
  • NP_001395345.1:p.Ile42Tyrfs
  • NP_001395347.1:p.Ile42Tyrfs
  • NP_001395348.1:p.Ile42Tyrfs
  • NP_001395349.1:p.Ile42Tyrfs
  • NP_001395350.1:p.Ile42Tyrfs
  • NP_001395351.1:p.Ile42Tyrfs
  • NP_001395352.1:p.Ile42Tyrfs
  • NP_001395353.1:p.Ile42Tyrfs
  • NP_001395354.1:p.Ile42Tyrfs
  • NP_001395355.1:p.Ile42Tyrfs
  • NP_001395356.1:p.Ile42Tyrfs
  • NP_001395357.1:p.Ile42Tyrfs
  • NP_001395358.1:p.Ile42Tyrfs
  • NP_001395359.1:p.Ile42Tyrfs
  • NP_001395360.1:p.Ile42Tyrfs
  • NP_001395361.1:p.Ile42Tyrfs
  • NP_001395362.1:p.Ile42Tyrfs
  • NP_001395363.1:p.Ile42Tyrfs
  • NP_001395364.1:p.Ile42Tyrfs
  • NP_001395365.1:p.Ile42Tyrfs
  • NP_001395366.1:p.Ile42Tyrfs
  • NP_001395367.1:p.Ile42Tyrfs
  • NP_001395368.1:p.Ile42Tyrfs
  • NP_001395369.1:p.Ile42Tyrfs
  • NP_001395370.1:p.Ile42Tyrfs
  • NP_001395371.1:p.Ile42Tyrfs
  • NP_001395372.1:p.Ile42Tyrfs
  • NP_001395373.1:p.Ile42Tyrfs
  • NP_001395374.1:p.Ile42Tyrfs
  • NP_001395375.1:p.Ile42Tyrfs
  • NP_001395376.1:p.Ile42Tyrfs
  • NP_001395377.1:p.Ile42Tyrfs
  • NP_001395379.1:p.Ile42Tyrfs
  • NP_001395401.1:p.Ile42Tyrfs
  • NP_001395402.1:p.Ile42Tyrfs
  • NP_001395403.1:p.Ile42Tyrfs
  • NP_001395404.1:p.Ile42Tyrfs
  • NP_001395405.1:p.Ile42Tyrfs
  • NP_001395423.1:p.Ile42Tyrfs
  • NP_001395424.1:p.Ile42Tyrfs
  • NP_009225.1:p.Ile42Tyrfs
  • NP_009225.1:p.Ile42fs
  • NP_009229.2:p.Ile42Tyrfs
  • NP_009229.2:p.Ile42fs
  • NP_009230.2:p.Ile42fs
  • NP_009231.2:p.Ile42fs
  • NP_009235.2:p.Ile42Tyrfs
  • LRG_292t1:c.124del
  • LRG_292:g.102248del
  • LRG_292p1:p.Ile42Tyrfs
  • NC_000017.10:g.41267753del
  • NC_000017.10:g.41267753delT
  • NM_007294.3:c.124delA
  • NM_007294.3:c.124delA
  • NM_007298.3:c.124del
  • NR_027676.2:n.326del
  • U14680.1:n.243delA
Protein change:
I42fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 243&base_change=del A; dbSNP: rs80357943
NCBI 1000 Genomes Browser:
rs80357943
Molecular consequence:
  • NM_001407581.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.-8+8281del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.326del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002669332Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Oct 15, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV004361134Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 28, 2023) 		germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G.

Am J Hum Genet. 1997 May;60(5):1021-30.

PubMed [citation]
PMID:
9150149
PMCID:
PMC1712430

Novel indications for BRCA1 screening using individual clinical and morphological features.

Eisinger F, Noguès C, Guinebretière JM, Peyrat JP, Bardou VJ, Noguchi T, Vennin P, Sauvan R, Lidereau R, Birnbaum D, Jacquemier J, Sobol H.

Int J Cancer. 1999 Jun 21;84(3):263-7.

PubMed [citation]
PMID:
10371344
See all PubMed Citations (13)

Details of each submission

From Ambry Genetics, SCV002669332.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The c.124delA pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 124, causing a translational frameshift with a predicted alternate stop codon (p.I42Yfs*8). This variant has been detected in several families with early onset breast and/or ovarian cancer (Abulkhair O et al. J Glob Oncol, 2018 08;4:1-9; de Sanjosé S et al. Int J Cancer, 2003 Sep;106:588-93; Stoppa-Lyonnet D et al. Am J Hum Genet, 1997 May;60:1021-30; Díez O et al. Hum Mutat, 2003 Oct;22:301-12). In addition, this mutation is also designated as 243delA in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV004361134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)

Description

This variant deletes 1 nucleotide in exon 3 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 243delA and c.124delA in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in several individuals affected with breast cancer (PMID: 10371344, 12845657, 22362584, 26317927, 28145423, 30199306) and in several suspected hereditary breast and ovarian cancer families (PMID: 9150149, 12124814, 12955716, 29446198, 32614418, 32720237). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Nov 10, 2024