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NM_007294.4(BRCA1):c.143del (p.Met48fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 23, 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:
RCV000129404.19

Allele description [Variation Report for NM_007294.4(BRCA1):c.143del (p.Met48fs)]

NM_007294.4(BRCA1):c.143del (p.Met48fs)

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.143del (p.Met48fs)
HGVS:
  • NC_000017.11:g.43106525del
  • NG_005905.2:g.111459del
  • NM_001407571.1:c.-46delT
  • NM_001407581.1:c.143delT
  • NM_001407582.1:c.143delT
  • NM_001407583.1:c.143delT
  • NM_001407585.1:c.143delT
  • NM_001407587.1:c.143delT
  • NM_001407590.1:c.143delT
  • NM_001407591.1:c.143delT
  • NM_001407593.1:c.143delT
  • NM_001407594.1:c.143delT
  • NM_001407596.1:c.143delT
  • NM_001407597.1:c.143delT
  • NM_001407598.1:c.143delT
  • NM_001407602.1:c.143delT
  • NM_001407603.1:c.143delT
  • NM_001407605.1:c.143delT
  • NM_001407610.1:c.143delT
  • NM_001407611.1:c.143delT
  • NM_001407612.1:c.143delT
  • NM_001407613.1:c.143delT
  • NM_001407614.1:c.143delT
  • NM_001407615.1:c.143delT
  • NM_001407616.1:c.143delT
  • NM_001407617.1:c.143delT
  • NM_001407618.1:c.143delT
  • NM_001407619.1:c.143delT
  • NM_001407620.1:c.143delT
  • NM_001407621.1:c.143delT
  • NM_001407622.1:c.143delT
  • NM_001407623.1:c.143delT
  • NM_001407624.1:c.143delT
  • NM_001407625.1:c.143delT
  • NM_001407626.1:c.143delT
  • NM_001407627.1:c.143delT
  • NM_001407628.1:c.143delT
  • NM_001407629.1:c.143delT
  • NM_001407630.1:c.143delT
  • NM_001407631.1:c.143delT
  • NM_001407632.1:c.143delT
  • NM_001407633.1:c.143delT
  • NM_001407634.1:c.143delT
  • NM_001407635.1:c.143delT
  • NM_001407636.1:c.143delT
  • NM_001407637.1:c.143delT
  • NM_001407638.1:c.143delT
  • NM_001407639.1:c.143delT
  • NM_001407640.1:c.143delT
  • NM_001407641.1:c.143delT
  • NM_001407642.1:c.143delT
  • NM_001407644.1:c.143delT
  • NM_001407645.1:c.143delT
  • NM_001407646.1:c.143delT
  • NM_001407647.1:c.143delT
  • NM_001407648.1:c.143delT
  • NM_001407649.1:c.143delT
  • NM_001407652.1:c.143delT
  • NM_001407664.1:c.143delT
  • NM_001407665.1:c.143delT
  • NM_001407666.1:c.143delT
  • NM_001407667.1:c.143delT
  • NM_001407668.1:c.143delT
  • NM_001407669.1:c.143delT
  • NM_001407670.1:c.143delT
  • NM_001407671.1:c.143delT
  • NM_001407672.1:c.143delT
  • NM_001407673.1:c.143delT
  • NM_001407674.1:c.143delT
  • NM_001407675.1:c.143delT
  • NM_001407676.1:c.143delT
  • NM_001407677.1:c.143delT
  • NM_001407678.1:c.143delT
  • NM_001407679.1:c.143delT
  • NM_001407680.1:c.143delT
  • NM_001407681.1:c.143delT
  • NM_001407682.1:c.143delT
  • NM_001407683.1:c.143delT
  • NM_001407684.1:c.143delT
  • NM_001407685.1:c.143delT
  • NM_001407686.1:c.143delT
  • NM_001407687.1:c.143delT
  • NM_001407688.1:c.143delT
  • NM_001407689.1:c.143delT
  • NM_001407690.1:c.143delT
  • NM_001407691.1:c.143delT
  • NM_001407692.1:c.2delT
  • NM_001407694.1:c.2delT
  • NM_001407695.1:c.2delT
  • NM_001407696.1:c.2delT
  • NM_001407697.1:c.2delT
  • NM_001407698.1:c.2delT
  • NM_001407724.1:c.2delT
  • NM_001407725.1:c.2delT
  • NM_001407726.1:c.2delT
  • NM_001407727.1:c.2delT
  • NM_001407728.1:c.2delT
  • NM_001407729.1:c.2delT
  • NM_001407730.1:c.2delT
  • NM_001407731.1:c.2delT
  • NM_001407732.1:c.2delT
  • NM_001407733.1:c.2delT
  • NM_001407734.1:c.2delT
  • NM_001407735.1:c.2delT
  • NM_001407736.1:c.2delT
  • NM_001407737.1:c.2delT
  • NM_001407738.1:c.2delT
  • NM_001407739.1:c.2delT
  • NM_001407740.1:c.2delT
  • NM_001407741.1:c.2delT
  • NM_001407742.1:c.2delT
  • NM_001407743.1:c.2delT
  • NM_001407744.1:c.2delT
  • NM_001407745.1:c.2delT
  • NM_001407746.1:c.2delT
  • NM_001407747.1:c.2delT
  • NM_001407748.1:c.2delT
  • NM_001407749.1:c.2delT
  • NM_001407750.1:c.2delT
  • NM_001407751.1:c.2delT
  • NM_001407752.1:c.2delT
  • NM_001407838.1:c.2delT
  • NM_001407839.1:c.2delT
  • NM_001407841.1:c.2delT
  • NM_001407842.1:c.2delT
  • NM_001407843.1:c.2delT
  • NM_001407844.1:c.2delT
  • NM_001407845.1:c.2delT
  • NM_001407846.1:c.2delT
  • NM_001407847.1:c.2delT
  • NM_001407848.1:c.2delT
  • NM_001407849.1:c.2delT
  • NM_001407850.1:c.2delT
  • NM_001407851.1:c.2delT
  • NM_001407852.1:c.2delT
  • NM_001407853.1:c.-46delT
  • NM_001407854.1:c.143delT
  • NM_001407858.1:c.143delT
  • NM_001407859.1:c.143delT
  • NM_001407860.1:c.143delT
  • NM_001407861.1:c.143delT
  • NM_001407863.1:c.143delT
  • NM_001407879.1:c.-46delT
  • NM_001407881.1:c.-46delT
  • NM_001407882.1:c.-46delT
  • NM_001407884.1:c.-46delT
  • NM_001407885.1:c.-46delT
  • NM_001407886.1:c.-46delT
  • NM_001407887.1:c.-46delT
  • NM_001407889.1:c.-46delT
  • NM_001407894.1:c.-46delT
  • NM_001407895.1:c.-46delT
  • NM_001407896.1:c.-46delT
  • NM_001407897.1:c.-46delT
  • NM_001407898.1:c.-46delT
  • NM_001407899.1:c.-46delT
  • NM_001407900.1:c.-46delT
  • NM_001407902.1:c.-46delT
  • NM_001407904.1:c.-46delT
  • NM_001407906.1:c.-46delT
  • NM_001407907.1:c.-46delT
  • NM_001407908.1:c.-46delT
  • NM_001407909.1:c.-46delT
  • NM_001407910.1:c.-46delT
  • NM_001407915.1:c.-46delT
  • NM_001407916.1:c.-46delT
  • NM_001407917.1:c.-46delT
  • NM_001407918.1:c.-46delT
  • NM_001407919.1:c.143delT
  • NM_001407920.1:c.2delT
  • NM_001407921.1:c.2delT
  • NM_001407922.1:c.2delT
  • NM_001407923.1:c.2delT
  • NM_001407924.1:c.2delT
  • NM_001407925.1:c.2delT
  • NM_001407926.1:c.2delT
  • NM_001407927.1:c.2delT
  • NM_001407928.1:c.2delT
  • NM_001407929.1:c.2delT
  • NM_001407930.1:c.2delT
  • NM_001407931.1:c.2delT
  • NM_001407932.1:c.2delT
  • NM_001407933.1:c.2delT
  • NM_001407934.1:c.2delT
  • NM_001407935.1:c.2delT
  • NM_001407936.1:c.2delT
  • NM_001407937.1:c.143delT
  • NM_001407938.1:c.143delT
  • NM_001407939.1:c.143delT
  • NM_001407940.1:c.143delT
  • NM_001407941.1:c.143delT
  • NM_001407942.1:c.2delT
  • NM_001407943.1:c.2delT
  • NM_001407944.1:c.2delT
  • NM_001407945.1:c.2delT
  • NM_001407946.1:c.-46delT
  • NM_001407947.1:c.-46delT
  • NM_001407948.1:c.-46delT
  • NM_001407949.1:c.-46delT
  • NM_001407950.1:c.-46delT
  • NM_001407951.1:c.-46delT
  • NM_001407952.1:c.-46delT
  • NM_001407953.1:c.-46delT
  • NM_001407954.1:c.-46delT
  • NM_001407955.1:c.-46delT
  • NM_001407956.1:c.-46delT
  • NM_001407957.1:c.-46delT
  • NM_001407958.1:c.-46delT
  • NM_001407964.1:c.2delT
  • NM_001407968.1:c.143delT
  • NM_001407969.1:c.143delT
  • NM_001407970.1:c.143delT
  • NM_001407971.1:c.143delT
  • NM_001407972.1:c.143delT
  • NM_001407973.1:c.143delT
  • NM_001407974.1:c.143delT
  • NM_001407975.1:c.143delT
  • NM_001407976.1:c.143delT
  • NM_001407977.1:c.143delT
  • NM_001407978.1:c.143delT
  • NM_001407979.1:c.143delT
  • NM_001407980.1:c.143delT
  • NM_001407981.1:c.143delT
  • NM_001407982.1:c.143delT
  • NM_001407983.1:c.143delT
  • NM_001407984.1:c.143delT
  • NM_001407985.1:c.143delT
  • NM_001407986.1:c.143delT
  • NM_001407990.1:c.143delT
  • NM_001407991.1:c.143delT
  • NM_001407992.1:c.143delT
  • NM_001407993.1:c.143delT
  • NM_001408392.1:c.143delT
  • NM_001408396.1:c.143delT
  • NM_001408397.1:c.143delT
  • NM_001408398.1:c.143delT
  • NM_001408399.1:c.143delT
  • NM_001408400.1:c.143delT
  • NM_001408401.1:c.143delT
  • NM_001408402.1:c.143delT
  • NM_001408403.1:c.143delT
  • NM_001408404.1:c.143delT
  • NM_001408406.1:c.143delT
  • NM_001408407.1:c.143delT
  • NM_001408408.1:c.143delT
  • NM_001408410.1:c.2delT
  • NM_001408418.1:c.143delT
  • NM_001408419.1:c.143delT
  • NM_001408420.1:c.143delT
  • NM_001408421.1:c.143delT
  • NM_001408422.1:c.143delT
  • NM_001408423.1:c.143delT
  • NM_001408424.1:c.143delT
  • NM_001408425.1:c.143delT
  • NM_001408426.1:c.143delT
  • NM_001408427.1:c.143delT
  • NM_001408428.1:c.143delT
  • NM_001408429.1:c.143delT
  • NM_001408430.1:c.143delT
  • NM_001408431.1:c.143delT
  • NM_001408432.1:c.143delT
  • NM_001408433.1:c.143delT
  • NM_001408434.1:c.143delT
  • NM_001408435.1:c.143delT
  • NM_001408436.1:c.143delT
  • NM_001408437.1:c.143delT
  • NM_001408438.1:c.143delT
  • NM_001408439.1:c.143delT
  • NM_001408440.1:c.143delT
  • NM_001408441.1:c.143delT
  • NM_001408442.1:c.143delT
  • NM_001408443.1:c.143delT
  • NM_001408444.1:c.143delT
  • NM_001408445.1:c.143delT
  • NM_001408446.1:c.143delT
  • NM_001408447.1:c.143delT
  • NM_001408448.1:c.143delT
  • NM_001408450.1:c.143delT
  • NM_001408452.1:c.2delT
  • NM_001408453.1:c.2delT
  • NM_001408454.1:c.2delT
  • NM_001408455.1:c.2delT
  • NM_001408456.1:c.2delT
  • NM_001408457.1:c.2delT
  • NM_001408458.1:c.2delT
  • NM_001408459.1:c.2delT
  • NM_001408460.1:c.2delT
  • NM_001408461.1:c.2delT
  • NM_001408462.1:c.2delT
  • NM_001408463.1:c.2delT
  • NM_001408464.1:c.2delT
  • NM_001408465.1:c.2delT
  • NM_001408466.1:c.2delT
  • NM_001408467.1:c.2delT
  • NM_001408468.1:c.2delT
  • NM_001408469.1:c.2delT
  • NM_001408470.1:c.2delT
  • NM_001408472.1:c.143delT
  • NM_001408473.1:c.143delT
  • NM_001408478.1:c.-46delT
  • NM_001408479.1:c.-46delT
  • NM_001408480.1:c.-46delT
  • NM_001408481.1:c.-46delT
  • NM_001408482.1:c.-46delT
  • NM_001408483.1:c.-46delT
  • NM_001408484.1:c.-46delT
  • NM_001408485.1:c.-46delT
  • NM_001408489.1:c.-46delT
  • NM_001408490.1:c.-46delT
  • NM_001408491.1:c.-46delT
  • NM_001408492.1:c.-46delT
  • NM_001408493.1:c.-46delT
  • NM_001408494.1:c.143delT
  • NM_001408495.1:c.143delT
  • NM_001408496.1:c.2delT
  • NM_001408497.1:c.2delT
  • NM_001408498.1:c.2delT
  • NM_001408499.1:c.2delT
  • NM_001408500.1:c.2delT
  • NM_001408501.1:c.2delT
  • NM_001408502.1:c.-46delT
  • NM_001408503.1:c.2delT
  • NM_001408504.1:c.2delT
  • NM_001408505.1:c.2delT
  • NM_001408506.1:c.-46delT
  • NM_001408507.1:c.-46delT
  • NM_001408508.1:c.-46delT
  • NM_001408509.1:c.-46delT
  • NM_001408511.1:c.2delT
  • NM_001408513.1:c.-46delT
  • NM_001408514.1:c.-46delT
  • NM_007294.4:c.143delMANE SELECT
  • NM_007297.4:c.2del
  • NM_007298.4:c.143delT
  • NM_007299.4:c.143del
  • NM_007300.4:c.143del
  • NM_007304.2:c.143delT
  • NP_001394510.1:p.Met48Serfs
  • NP_001394511.1:p.Met48Serfs
  • NP_001394512.1:p.Met48Serfs
  • NP_001394514.1:p.Met48Serfs
  • NP_001394516.1:p.Met48Serfs
  • NP_001394519.1:p.Met48Serfs
  • NP_001394520.1:p.Met48Serfs
  • NP_001394522.1:p.Met48Serfs
  • NP_001394523.1:p.Met48Serfs
  • NP_001394525.1:p.Met48Serfs
  • NP_001394526.1:p.Met48Serfs
  • NP_001394527.1:p.Met48Serfs
  • NP_001394531.1:p.Met48Serfs
  • NP_001394532.1:p.Met48Serfs
  • NP_001394534.1:p.Met48Serfs
  • NP_001394539.1:p.Met48Serfs
  • NP_001394540.1:p.Met48Serfs
  • NP_001394541.1:p.Met48Serfs
  • NP_001394542.1:p.Met48Serfs
  • NP_001394543.1:p.Met48Serfs
  • NP_001394544.1:p.Met48Serfs
  • NP_001394545.1:p.Met48Serfs
  • NP_001394546.1:p.Met48Serfs
  • NP_001394547.1:p.Met48Serfs
  • NP_001394548.1:p.Met48Serfs
  • NP_001394549.1:p.Met48Serfs
  • NP_001394550.1:p.Met48Serfs
  • NP_001394551.1:p.Met48Serfs
  • NP_001394552.1:p.Met48Serfs
  • NP_001394553.1:p.Met48Serfs
  • NP_001394554.1:p.Met48Serfs
  • NP_001394555.1:p.Met48Serfs
  • NP_001394556.1:p.Met48Serfs
  • NP_001394557.1:p.Met48Serfs
  • NP_001394558.1:p.Met48Serfs
  • NP_001394559.1:p.Met48Serfs
  • NP_001394560.1:p.Met48Serfs
  • NP_001394561.1:p.Met48Serfs
  • NP_001394562.1:p.Met48Serfs
  • NP_001394563.1:p.Met48Serfs
  • NP_001394564.1:p.Met48Serfs
  • NP_001394565.1:p.Met48Serfs
  • NP_001394566.1:p.Met48Serfs
  • NP_001394567.1:p.Met48Serfs
  • NP_001394568.1:p.Met48Serfs
  • NP_001394569.1:p.Met48Serfs
  • NP_001394570.1:p.Met48Serfs
  • NP_001394571.1:p.Met48Serfs
  • NP_001394573.1:p.Met48Serfs
  • NP_001394574.1:p.Met48Serfs
  • NP_001394575.1:p.Met48Serfs
  • NP_001394576.1:p.Met48Serfs
  • NP_001394577.1:p.Met48Serfs
  • NP_001394578.1:p.Met48Serfs
  • NP_001394581.1:p.Met48Serfs
  • NP_001394593.1:p.Met48Serfs
  • NP_001394594.1:p.Met48Serfs
  • NP_001394595.1:p.Met48Serfs
  • NP_001394596.1:p.Met48Serfs
  • NP_001394597.1:p.Met48Serfs
  • NP_001394598.1:p.Met48Serfs
  • NP_001394599.1:p.Met48Serfs
  • NP_001394600.1:p.Met48Serfs
  • NP_001394601.1:p.Met48Serfs
  • NP_001394602.1:p.Met48Serfs
  • NP_001394603.1:p.Met48Serfs
  • NP_001394604.1:p.Met48Serfs
  • NP_001394605.1:p.Met48Serfs
  • NP_001394606.1:p.Met48Serfs
  • NP_001394607.1:p.Met48Serfs
  • NP_001394608.1:p.Met48Serfs
  • NP_001394609.1:p.Met48Serfs
  • NP_001394610.1:p.Met48Serfs
  • NP_001394611.1:p.Met48Serfs
  • NP_001394612.1:p.Met48Serfs
  • NP_001394613.1:p.Met48Serfs
  • NP_001394614.1:p.Met48Serfs
  • NP_001394615.1:p.Met48Serfs
  • NP_001394616.1:p.Met48Serfs
  • NP_001394617.1:p.Met48Serfs
  • NP_001394618.1:p.Met48Serfs
  • NP_001394619.1:p.Met48Serfs
  • NP_001394620.1:p.Met48Serfs
  • NP_001394621.1:p.Met1Serfs
  • NP_001394623.1:p.Met1Serfs
  • NP_001394624.1:p.Met1Serfs
  • NP_001394625.1:p.Met1Serfs
  • NP_001394626.1:p.Met1Serfs
  • NP_001394627.1:p.Met1Serfs
  • NP_001394653.1:p.Met1Serfs
  • NP_001394654.1:p.Met1Serfs
  • NP_001394655.1:p.Met1Serfs
  • NP_001394656.1:p.Met1Serfs
  • NP_001394657.1:p.Met1Serfs
  • NP_001394658.1:p.Met1Serfs
  • NP_001394659.1:p.Met1Serfs
  • NP_001394660.1:p.Met1Serfs
  • NP_001394661.1:p.Met1Serfs
  • NP_001394662.1:p.Met1Serfs
  • NP_001394663.1:p.Met1Serfs
  • NP_001394664.1:p.Met1Serfs
  • NP_001394665.1:p.Met1Serfs
  • NP_001394666.1:p.Met1Serfs
  • NP_001394667.1:p.Met1Serfs
  • NP_001394668.1:p.Met1Serfs
  • NP_001394669.1:p.Met1Serfs
  • NP_001394670.1:p.Met1Serfs
  • NP_001394671.1:p.Met1Serfs
  • NP_001394672.1:p.Met1Serfs
  • NP_001394673.1:p.Met1Serfs
  • NP_001394674.1:p.Met1Serfs
  • NP_001394675.1:p.Met1Serfs
  • NP_001394676.1:p.Met1Serfs
  • NP_001394677.1:p.Met1Serfs
  • NP_001394678.1:p.Met1Serfs
  • NP_001394679.1:p.Met1Serfs
  • NP_001394680.1:p.Met1Serfs
  • NP_001394681.1:p.Met1Serfs
  • NP_001394767.1:p.Met1Serfs
  • NP_001394768.1:p.Met1Serfs
  • NP_001394770.1:p.Met1Serfs
  • NP_001394771.1:p.Met1Serfs
  • NP_001394772.1:p.Met1Serfs
  • NP_001394773.1:p.Met1Serfs
  • NP_001394774.1:p.Met1Serfs
  • NP_001394775.1:p.Met1Serfs
  • NP_001394776.1:p.Met1Serfs
  • NP_001394777.1:p.Met1Serfs
  • NP_001394778.1:p.Met1Serfs
  • NP_001394779.1:p.Met1Serfs
  • NP_001394780.1:p.Met1Serfs
  • NP_001394781.1:p.Met1Serfs
  • NP_001394783.1:p.Met48Serfs
  • NP_001394787.1:p.Met48Serfs
  • NP_001394788.1:p.Met48Serfs
  • NP_001394789.1:p.Met48Serfs
  • NP_001394790.1:p.Met48Serfs
  • NP_001394792.1:p.Met48Serfs
  • NP_001394848.1:p.Met48Serfs
  • NP_001394849.1:p.Met1Serfs
  • NP_001394850.1:p.Met1Serfs
  • NP_001394851.1:p.Met1Serfs
  • NP_001394852.1:p.Met1Serfs
  • NP_001394853.1:p.Met1Serfs
  • NP_001394854.1:p.Met1Serfs
  • NP_001394855.1:p.Met1Serfs
  • NP_001394856.1:p.Met1Serfs
  • NP_001394857.1:p.Met1Serfs
  • NP_001394858.1:p.Met1Serfs
  • NP_001394859.1:p.Met1Serfs
  • NP_001394860.1:p.Met1Serfs
  • NP_001394861.1:p.Met1Serfs
  • NP_001394862.1:p.Met1Serfs
  • NP_001394863.1:p.Met1Serfs
  • NP_001394864.1:p.Met1Serfs
  • NP_001394865.1:p.Met1Serfs
  • NP_001394866.1:p.Met48Serfs
  • NP_001394867.1:p.Met48Serfs
  • NP_001394868.1:p.Met48Serfs
  • NP_001394869.1:p.Met48Serfs
  • NP_001394870.1:p.Met48Serfs
  • NP_001394871.1:p.Met1Serfs
  • NP_001394872.1:p.Met1Serfs
  • NP_001394873.1:p.Met1Serfs
  • NP_001394874.1:p.Met1Serfs
  • NP_001394893.1:p.Met1Serfs
  • NP_001394897.1:p.Met48Serfs
  • NP_001394898.1:p.Met48Serfs
  • NP_001394899.1:p.Met48Serfs
  • NP_001394900.1:p.Met48Serfs
  • NP_001394901.1:p.Met48Serfs
  • NP_001394902.1:p.Met48Serfs
  • NP_001394903.1:p.Met48Serfs
  • NP_001394904.1:p.Met48Serfs
  • NP_001394905.1:p.Met48Serfs
  • NP_001394906.1:p.Met48Serfs
  • NP_001394907.1:p.Met48Serfs
  • NP_001394908.1:p.Met48Serfs
  • NP_001394909.1:p.Met48Serfs
  • NP_001394910.1:p.Met48Serfs
  • NP_001394911.1:p.Met48Serfs
  • NP_001394912.1:p.Met48Serfs
  • NP_001394913.1:p.Met48Serfs
  • NP_001394914.1:p.Met48Serfs
  • NP_001394915.1:p.Met48Serfs
  • NP_001394919.1:p.Met48Serfs
  • NP_001394920.1:p.Met48Serfs
  • NP_001394921.1:p.Met48Serfs
  • NP_001394922.1:p.Met48Serfs
  • NP_001395321.1:p.Met48Serfs
  • NP_001395325.1:p.Met48Serfs
  • NP_001395326.1:p.Met48Serfs
  • NP_001395327.1:p.Met48Serfs
  • NP_001395328.1:p.Met48Serfs
  • NP_001395329.1:p.Met48Serfs
  • NP_001395330.1:p.Met48Serfs
  • NP_001395331.1:p.Met48Serfs
  • NP_001395332.1:p.Met48Serfs
  • NP_001395333.1:p.Met48Serfs
  • NP_001395335.1:p.Met48Serfs
  • NP_001395336.1:p.Met48Serfs
  • NP_001395337.1:p.Met48Serfs
  • NP_001395339.1:p.Met1Serfs
  • NP_001395347.1:p.Met48Serfs
  • NP_001395348.1:p.Met48Serfs
  • NP_001395349.1:p.Met48Serfs
  • NP_001395350.1:p.Met48Serfs
  • NP_001395351.1:p.Met48Serfs
  • NP_001395352.1:p.Met48Serfs
  • NP_001395353.1:p.Met48Serfs
  • NP_001395354.1:p.Met48Serfs
  • NP_001395355.1:p.Met48Serfs
  • NP_001395356.1:p.Met48Serfs
  • NP_001395357.1:p.Met48Serfs
  • NP_001395358.1:p.Met48Serfs
  • NP_001395359.1:p.Met48Serfs
  • NP_001395360.1:p.Met48Serfs
  • NP_001395361.1:p.Met48Serfs
  • NP_001395362.1:p.Met48Serfs
  • NP_001395363.1:p.Met48Serfs
  • NP_001395364.1:p.Met48Serfs
  • NP_001395365.1:p.Met48Serfs
  • NP_001395366.1:p.Met48Serfs
  • NP_001395367.1:p.Met48Serfs
  • NP_001395368.1:p.Met48Serfs
  • NP_001395369.1:p.Met48Serfs
  • NP_001395370.1:p.Met48Serfs
  • NP_001395371.1:p.Met48Serfs
  • NP_001395372.1:p.Met48Serfs
  • NP_001395373.1:p.Met48Serfs
  • NP_001395374.1:p.Met48Serfs
  • NP_001395375.1:p.Met48Serfs
  • NP_001395376.1:p.Met48Serfs
  • NP_001395377.1:p.Met48Serfs
  • NP_001395379.1:p.Met48Serfs
  • NP_001395381.1:p.Met1Serfs
  • NP_001395382.1:p.Met1Serfs
  • NP_001395383.1:p.Met1Serfs
  • NP_001395384.1:p.Met1Serfs
  • NP_001395385.1:p.Met1Serfs
  • NP_001395386.1:p.Met1Serfs
  • NP_001395387.1:p.Met1Serfs
  • NP_001395388.1:p.Met1Serfs
  • NP_001395389.1:p.Met1Serfs
  • NP_001395390.1:p.Met1Serfs
  • NP_001395391.1:p.Met1Serfs
  • NP_001395392.1:p.Met1Serfs
  • NP_001395393.1:p.Met1Serfs
  • NP_001395394.1:p.Met1Serfs
  • NP_001395395.1:p.Met1Serfs
  • NP_001395396.1:p.Met1Serfs
  • NP_001395397.1:p.Met1Serfs
  • NP_001395398.1:p.Met1Serfs
  • NP_001395399.1:p.Met1Serfs
  • NP_001395401.1:p.Met48Serfs
  • NP_001395402.1:p.Met48Serfs
  • NP_001395423.1:p.Met48Serfs
  • NP_001395424.1:p.Met48Serfs
  • NP_001395425.1:p.Met1Serfs
  • NP_001395426.1:p.Met1Serfs
  • NP_001395427.1:p.Met1Serfs
  • NP_001395428.1:p.Met1Serfs
  • NP_001395429.1:p.Met1Serfs
  • NP_001395430.1:p.Met1Serfs
  • NP_001395432.1:p.Met1Serfs
  • NP_001395433.1:p.Met1Serfs
  • NP_001395434.1:p.Met1Serfs
  • NP_001395440.1:p.Met1Serfs
  • NP_009225.1:p.Met48Serfs
  • NP_009225.1:p.Met48fs
  • NP_009228.2:p.Met1fs
  • NP_009229.2:p.Met48Serfs
  • NP_009229.2:p.Met48fs
  • NP_009230.2:p.Met48fs
  • NP_009231.2:p.Met48fs
  • NP_009235.2:p.Met48Serfs
  • LRG_292t1:c.143del
  • LRG_292:g.111459del
  • LRG_292p1:p.Met48Serfs
  • NC_000017.10:g.41258542del
  • NC_000017.10:g.41258542delA
  • NM_007294.3:c.143delT
  • NM_007294.3:c.143delT
  • NM_007294.4:c.143del
  • NM_007298.3:c.143del
  • NR_027676.2:n.345del
  • U14680.1:n.262delT
  • p.M48SFS*2
  • p.Met48SerfsX2
Nucleotide change:
262delT
Protein change:
M1fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 262&base_change=del T; dbSNP: rs80357637
NCBI 1000 Genomes Browser:
rs80357637
Molecular consequence:
  • NM_001407581.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.2delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.143delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2del - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NR_027676.2:n.345del - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000184173Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Mar 23, 2023)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000911646Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Nov 22, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE.

J Clin Oncol. 2008 Nov 20;26(33):5393-400. doi: 10.1200/JCO.2008.17.8228. Epub 2008 Sep 29. Erratum in: J Clin Oncol. 2009 May 10;27(14):2415.

PubMed [citation]
PMID:
18824701
PMCID:
PMC2651073

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers.

Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR, Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE, Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators, Isaacs C, Peshkin BN, Caldes T, et al.

Eur J Hum Genet. 2017 Apr;25(4):432-438. doi: 10.1038/ejhg.2016.203. Epub 2017 Feb 1. Erratum in: Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1..

PubMed [citation]
PMID:
28145423
PMCID:
PMC5386423
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000184173.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The c.143delT pathogenic mutation, located in coding exon 3 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 143, causing a translational frameshift with a predicted alternate stop codon (p.M48Sfs*2). This mutation has been reported in several patients with ovarian cancer (Spearman AD et al. J. Clin. Oncol., 2008 Nov;26:5393-400; Foley SB et al. EBioMedicine, 2015 Jan;2:74-81; Carter NJ et al. Gynecol. Oncol., 2018 12;151:481-488). This alteration was also reported in 2/50726 patients from an unselected population cohort from a single health system who underwent exome sequencing (Manickam K et al. JAMA Netw Open, 2018 09;1:e182140). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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, SCV000911646.5

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

Description

This variant deletes 1 nucleotide in exon 4 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with ovarian cancer (PMID: 1882470, 26023681, 30322717). 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 24, 2024