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NM_007294.4(BRCA1):c.685del (p.Ser229fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 4, 2020
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:
RCV001178319.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.685del (p.Ser229fs)]

NM_007294.4(BRCA1):c.685del (p.Ser229fs)

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.685del (p.Ser229fs)
Other names:
804delT
HGVS:
  • NC_000017.11:g.43094849del
  • NG_005905.2:g.123138del
  • NM_001407571.1:c.469delT
  • NM_001407581.1:c.682delT
  • NM_001407582.1:c.682delT
  • NM_001407583.1:c.682delT
  • NM_001407585.1:c.682delT
  • NM_001407587.1:c.679delT
  • NM_001407590.1:c.679delT
  • NM_001407591.1:c.679delT
  • NM_001407593.1:c.682delT
  • NM_001407594.1:c.682delT
  • NM_001407596.1:c.682delT
  • NM_001407597.1:c.682delT
  • NM_001407598.1:c.682delT
  • NM_001407602.1:c.682delT
  • NM_001407603.1:c.682delT
  • NM_001407605.1:c.682delT
  • NM_001407610.1:c.679delT
  • NM_001407611.1:c.679delT
  • NM_001407612.1:c.679delT
  • NM_001407613.1:c.679delT
  • NM_001407614.1:c.679delT
  • NM_001407615.1:c.679delT
  • NM_001407616.1:c.682delT
  • NM_001407617.1:c.682delT
  • NM_001407618.1:c.682delT
  • NM_001407619.1:c.682delT
  • NM_001407620.1:c.682delT
  • NM_001407621.1:c.682delT
  • NM_001407622.1:c.682delT
  • NM_001407623.1:c.682delT
  • NM_001407624.1:c.682delT
  • NM_001407625.1:c.682delT
  • NM_001407626.1:c.682delT
  • NM_001407627.1:c.679delT
  • NM_001407628.1:c.679delT
  • NM_001407629.1:c.679delT
  • NM_001407630.1:c.679delT
  • NM_001407631.1:c.679delT
  • NM_001407632.1:c.679delT
  • NM_001407633.1:c.679delT
  • NM_001407634.1:c.679delT
  • NM_001407635.1:c.679delT
  • NM_001407636.1:c.679delT
  • NM_001407637.1:c.679delT
  • NM_001407638.1:c.679delT
  • NM_001407639.1:c.682delT
  • NM_001407640.1:c.682delT
  • NM_001407641.1:c.682delT
  • NM_001407642.1:c.682delT
  • NM_001407644.1:c.679delT
  • NM_001407645.1:c.679delT
  • NM_001407646.1:c.673delT
  • NM_001407647.1:c.673delT
  • NM_001407648.1:c.559delT
  • NM_001407649.1:c.556delT
  • NM_001407652.1:c.682delT
  • NM_001407653.1:c.604delT
  • NM_001407654.1:c.604delT
  • NM_001407655.1:c.604delT
  • NM_001407656.1:c.604delT
  • NM_001407657.1:c.604delT
  • NM_001407658.1:c.604delT
  • NM_001407659.1:c.601delT
  • NM_001407660.1:c.601delT
  • NM_001407661.1:c.601delT
  • NM_001407662.1:c.601delT
  • NM_001407663.1:c.604delT
  • NM_001407664.1:c.559delT
  • NM_001407665.1:c.559delT
  • NM_001407666.1:c.559delT
  • NM_001407667.1:c.559delT
  • NM_001407668.1:c.559delT
  • NM_001407669.1:c.559delT
  • NM_001407670.1:c.556delT
  • NM_001407671.1:c.556delT
  • NM_001407672.1:c.556delT
  • NM_001407673.1:c.556delT
  • NM_001407674.1:c.559delT
  • NM_001407675.1:c.559delT
  • NM_001407676.1:c.559delT
  • NM_001407677.1:c.559delT
  • NM_001407678.1:c.559delT
  • NM_001407679.1:c.559delT
  • NM_001407680.1:c.559delT
  • NM_001407681.1:c.559delT
  • NM_001407682.1:c.559delT
  • NM_001407683.1:c.559delT
  • NM_001407684.1:c.682delT
  • NM_001407685.1:c.556delT
  • NM_001407686.1:c.556delT
  • NM_001407687.1:c.556delT
  • NM_001407688.1:c.556delT
  • NM_001407689.1:c.556delT
  • NM_001407690.1:c.556delT
  • NM_001407691.1:c.556delT
  • NM_001407692.1:c.541delT
  • NM_001407694.1:c.541delT
  • NM_001407695.1:c.541delT
  • NM_001407696.1:c.541delT
  • NM_001407697.1:c.541delT
  • NM_001407698.1:c.541delT
  • NM_001407724.1:c.541delT
  • NM_001407725.1:c.541delT
  • NM_001407726.1:c.541delT
  • NM_001407727.1:c.541delT
  • NM_001407728.1:c.541delT
  • NM_001407729.1:c.541delT
  • NM_001407730.1:c.541delT
  • NM_001407731.1:c.541delT
  • NM_001407732.1:c.541delT
  • NM_001407733.1:c.541delT
  • NM_001407734.1:c.541delT
  • NM_001407735.1:c.541delT
  • NM_001407736.1:c.541delT
  • NM_001407737.1:c.541delT
  • NM_001407738.1:c.541delT
  • NM_001407739.1:c.541delT
  • NM_001407740.1:c.538delT
  • NM_001407741.1:c.538delT
  • NM_001407742.1:c.538delT
  • NM_001407743.1:c.538delT
  • NM_001407744.1:c.538delT
  • NM_001407745.1:c.538delT
  • NM_001407746.1:c.538delT
  • NM_001407747.1:c.538delT
  • NM_001407748.1:c.538delT
  • NM_001407749.1:c.538delT
  • NM_001407750.1:c.541delT
  • NM_001407751.1:c.541delT
  • NM_001407752.1:c.541delT
  • NM_001407838.1:c.538delT
  • NM_001407839.1:c.538delT
  • NM_001407841.1:c.538delT
  • NM_001407842.1:c.538delT
  • NM_001407843.1:c.538delT
  • NM_001407844.1:c.538delT
  • NM_001407845.1:c.538delT
  • NM_001407846.1:c.538delT
  • NM_001407847.1:c.538delT
  • NM_001407848.1:c.538delT
  • NM_001407849.1:c.538delT
  • NM_001407850.1:c.541delT
  • NM_001407851.1:c.541delT
  • NM_001407852.1:c.541delT
  • NM_001407853.1:c.469delT
  • NM_001407854.1:c.682delT
  • NM_001407858.1:c.682delT
  • NM_001407859.1:c.682delT
  • NM_001407860.1:c.679delT
  • NM_001407861.1:c.679delT
  • NM_001407862.1:c.481delT
  • NM_001407863.1:c.559delT
  • NM_001407874.1:c.478delT
  • NM_001407875.1:c.478delT
  • NM_001407879.1:c.472delT
  • NM_001407881.1:c.472delT
  • NM_001407882.1:c.472delT
  • NM_001407884.1:c.472delT
  • NM_001407885.1:c.472delT
  • NM_001407886.1:c.472delT
  • NM_001407887.1:c.472delT
  • NM_001407889.1:c.472delT
  • NM_001407894.1:c.469delT
  • NM_001407895.1:c.469delT
  • NM_001407896.1:c.469delT
  • NM_001407897.1:c.469delT
  • NM_001407898.1:c.469delT
  • NM_001407899.1:c.469delT
  • NM_001407900.1:c.472delT
  • NM_001407902.1:c.472delT
  • NM_001407904.1:c.472delT
  • NM_001407906.1:c.472delT
  • NM_001407907.1:c.472delT
  • NM_001407908.1:c.472delT
  • NM_001407909.1:c.472delT
  • NM_001407910.1:c.472delT
  • NM_001407915.1:c.469delT
  • NM_001407916.1:c.469delT
  • NM_001407917.1:c.469delT
  • NM_001407918.1:c.469delT
  • NM_001407919.1:c.559delT
  • NM_001407920.1:c.418delT
  • NM_001407921.1:c.418delT
  • NM_001407922.1:c.418delT
  • NM_001407923.1:c.418delT
  • NM_001407924.1:c.418delT
  • NM_001407925.1:c.418delT
  • NM_001407926.1:c.418delT
  • NM_001407927.1:c.418delT
  • NM_001407928.1:c.418delT
  • NM_001407929.1:c.418delT
  • NM_001407930.1:c.415delT
  • NM_001407931.1:c.415delT
  • NM_001407932.1:c.415delT
  • NM_001407933.1:c.418delT
  • NM_001407934.1:c.415delT
  • NM_001407935.1:c.418delT
  • NM_001407936.1:c.415delT
  • NM_001407937.1:c.559delT
  • NM_001407938.1:c.559delT
  • NM_001407939.1:c.559delT
  • NM_001407940.1:c.556delT
  • NM_001407941.1:c.556delT
  • NM_001407942.1:c.541delT
  • NM_001407943.1:c.538delT
  • NM_001407944.1:c.541delT
  • NM_001407945.1:c.541delT
  • NM_001407946.1:c.349delT
  • NM_001407947.1:c.349delT
  • NM_001407948.1:c.349delT
  • NM_001407949.1:c.349delT
  • NM_001407950.1:c.349delT
  • NM_001407951.1:c.349delT
  • NM_001407952.1:c.349delT
  • NM_001407953.1:c.349delT
  • NM_001407954.1:c.346delT
  • NM_001407955.1:c.346delT
  • NM_001407956.1:c.346delT
  • NM_001407957.1:c.349delT
  • NM_001407958.1:c.346delT
  • NM_001407959.1:c.301delT
  • NM_001407960.1:c.301delT
  • NM_001407962.1:c.298delT
  • NM_001407963.1:c.301delT
  • NM_001407964.1:c.538delT
  • NM_001407965.1:c.178delT
  • NM_001407966.1:c.-207delT
  • NM_001407967.1:c.-207delT
  • NM_001407968.1:c.682delT
  • NM_001407969.1:c.682delT
  • NM_001407970.1:c.682delT
  • NM_001407971.1:c.682delT
  • NM_001407972.1:c.679delT
  • NM_001407973.1:c.682delT
  • NM_001407974.1:c.682delT
  • NM_001407975.1:c.682delT
  • NM_001407976.1:c.682delT
  • NM_001407977.1:c.682delT
  • NM_001407978.1:c.682delT
  • NM_001407979.1:c.682delT
  • NM_001407980.1:c.682delT
  • NM_001407981.1:c.682delT
  • NM_001407982.1:c.682delT
  • NM_001407983.1:c.682delT
  • NM_001407984.1:c.679delT
  • NM_001407985.1:c.679delT
  • NM_001407986.1:c.679delT
  • NM_001407990.1:c.682delT
  • NM_001407991.1:c.679delT
  • NM_001407992.1:c.679delT
  • NM_001407993.1:c.682delT
  • NM_001408392.1:c.679delT
  • NM_001408396.1:c.679delT
  • NM_001408397.1:c.679delT
  • NM_001408398.1:c.679delT
  • NM_001408399.1:c.679delT
  • NM_001408400.1:c.679delT
  • NM_001408401.1:c.679delT
  • NM_001408402.1:c.679delT
  • NM_001408403.1:c.682delT
  • NM_001408404.1:c.682delT
  • NM_001408406.1:c.682delT
  • NM_001408407.1:c.679delT
  • NM_001408408.1:c.673delT
  • NM_001408409.1:c.604delT
  • NM_001408410.1:c.541delT
  • NM_001408411.1:c.604delT
  • NM_001408412.1:c.604delT
  • NM_001408413.1:c.601delT
  • NM_001408414.1:c.604delT
  • NM_001408415.1:c.604delT
  • NM_001408416.1:c.601delT
  • NM_001408425.1:c.559delT
  • NM_001408426.1:c.559delT
  • NM_001408427.1:c.559delT
  • NM_001408428.1:c.559delT
  • NM_001408429.1:c.559delT
  • NM_001408430.1:c.559delT
  • NM_001408432.1:c.556delT
  • NM_001408433.1:c.556delT
  • NM_001408434.1:c.556delT
  • NM_001408435.1:c.556delT
  • NM_001408436.1:c.559delT
  • NM_001408437.1:c.559delT
  • NM_001408438.1:c.559delT
  • NM_001408439.1:c.559delT
  • NM_001408440.1:c.559delT
  • NM_001408441.1:c.559delT
  • NM_001408442.1:c.559delT
  • NM_001408443.1:c.559delT
  • NM_001408444.1:c.559delT
  • NM_001408445.1:c.556delT
  • NM_001408446.1:c.556delT
  • NM_001408447.1:c.556delT
  • NM_001408448.1:c.556delT
  • NM_001408450.1:c.556delT
  • NM_001408451.1:c.547delT
  • NM_001408452.1:c.541delT
  • NM_001408453.1:c.541delT
  • NM_001408454.1:c.541delT
  • NM_001408455.1:c.541delT
  • NM_001408456.1:c.541delT
  • NM_001408457.1:c.541delT
  • NM_001408458.1:c.541delT
  • NM_001408459.1:c.541delT
  • NM_001408460.1:c.541delT
  • NM_001408461.1:c.541delT
  • NM_001408462.1:c.538delT
  • NM_001408463.1:c.538delT
  • NM_001408464.1:c.538delT
  • NM_001408465.1:c.538delT
  • NM_001408466.1:c.541delT
  • NM_001408467.1:c.541delT
  • NM_001408468.1:c.538delT
  • NM_001408469.1:c.541delT
  • NM_001408470.1:c.538delT
  • NM_001408472.1:c.682delT
  • NM_001408473.1:c.679delT
  • NM_001408474.1:c.481delT
  • NM_001408475.1:c.478delT
  • NM_001408476.1:c.481delT
  • NM_001408478.1:c.472delT
  • NM_001408479.1:c.472delT
  • NM_001408480.1:c.472delT
  • NM_001408481.1:c.472delT
  • NM_001408482.1:c.472delT
  • NM_001408483.1:c.472delT
  • NM_001408484.1:c.472delT
  • NM_001408485.1:c.472delT
  • NM_001408489.1:c.472delT
  • NM_001408490.1:c.469delT
  • NM_001408491.1:c.469delT
  • NM_001408492.1:c.472delT
  • NM_001408493.1:c.469delT
  • NM_001408496.1:c.418delT
  • NM_001408497.1:c.418delT
  • NM_001408498.1:c.418delT
  • NM_001408499.1:c.418delT
  • NM_001408500.1:c.418delT
  • NM_001408501.1:c.418delT
  • NM_001408502.1:c.349delT
  • NM_001408503.1:c.415delT
  • NM_001408504.1:c.415delT
  • NM_001408505.1:c.415delT
  • NM_001408508.1:c.346delT
  • NM_001408509.1:c.346delT
  • NM_001408510.1:c.301delT
  • NM_001408512.1:c.178delT
  • NM_001408513.1:c.472delT
  • NM_001408514.1:c.472delT
  • NM_007294.4:c.685delMANE SELECT
  • NM_007297.4:c.544del
  • NM_007298.4:c.682delT
  • NM_007299.4:c.685del
  • NM_007300.4:c.685del
  • NM_007304.2:c.682delT
  • NP_001394500.1:p.Ser158Leufs
  • NP_001394510.1:p.Ser229Leufs
  • NP_001394511.1:p.Ser229Leufs
  • NP_001394512.1:p.Ser229Leufs
  • NP_001394514.1:p.Ser229Leufs
  • NP_001394516.1:p.Ser228Leufs
  • NP_001394519.1:p.Ser228Leufs
  • NP_001394520.1:p.Ser228Leufs
  • NP_001394522.1:p.Ser229Leufs
  • NP_001394523.1:p.Ser229Leufs
  • NP_001394525.1:p.Ser229Leufs
  • NP_001394526.1:p.Ser229Leufs
  • NP_001394527.1:p.Ser229Leufs
  • NP_001394531.1:p.Ser229Leufs
  • NP_001394532.1:p.Ser229Leufs
  • NP_001394534.1:p.Ser229Leufs
  • NP_001394539.1:p.Ser228Leufs
  • NP_001394540.1:p.Ser228Leufs
  • NP_001394541.1:p.Ser228Leufs
  • NP_001394542.1:p.Ser228Leufs
  • NP_001394543.1:p.Ser228Leufs
  • NP_001394544.1:p.Ser228Leufs
  • NP_001394545.1:p.Ser229Leufs
  • NP_001394546.1:p.Ser229Leufs
  • NP_001394547.1:p.Ser229Leufs
  • NP_001394548.1:p.Ser229Leufs
  • NP_001394549.1:p.Ser229Leufs
  • NP_001394550.1:p.Ser229Leufs
  • NP_001394551.1:p.Ser229Leufs
  • NP_001394552.1:p.Ser229Leufs
  • NP_001394553.1:p.Ser229Leufs
  • NP_001394554.1:p.Ser229Leufs
  • NP_001394555.1:p.Ser229Leufs
  • NP_001394556.1:p.Ser228Leufs
  • NP_001394557.1:p.Ser228Leufs
  • NP_001394558.1:p.Ser228Leufs
  • NP_001394559.1:p.Ser228Leufs
  • NP_001394560.1:p.Ser228Leufs
  • NP_001394561.1:p.Ser228Leufs
  • NP_001394562.1:p.Ser228Leufs
  • NP_001394563.1:p.Ser228Leufs
  • NP_001394564.1:p.Ser228Leufs
  • NP_001394565.1:p.Ser228Leufs
  • NP_001394566.1:p.Ser228Leufs
  • NP_001394567.1:p.Ser228Leufs
  • NP_001394568.1:p.Ser229Leufs
  • NP_001394569.1:p.Ser229Leufs
  • NP_001394570.1:p.Ser229Leufs
  • NP_001394571.1:p.Ser229Leufs
  • NP_001394573.1:p.Ser228Leufs
  • NP_001394574.1:p.Ser228Leufs
  • NP_001394575.1:p.Ser226Leufs
  • NP_001394576.1:p.Ser226Leufs
  • NP_001394577.1:p.Ser188Leufs
  • NP_001394578.1:p.Ser187Leufs
  • NP_001394581.1:p.Ser229Leufs
  • NP_001394582.1:p.Ser203Leufs
  • NP_001394583.1:p.Ser203Leufs
  • NP_001394584.1:p.Ser203Leufs
  • NP_001394585.1:p.Ser203Leufs
  • NP_001394586.1:p.Ser203Leufs
  • NP_001394587.1:p.Ser203Leufs
  • NP_001394588.1:p.Ser202Leufs
  • NP_001394589.1:p.Ser202Leufs
  • NP_001394590.1:p.Ser202Leufs
  • NP_001394591.1:p.Ser202Leufs
  • NP_001394592.1:p.Ser203Leufs
  • NP_001394593.1:p.Ser188Leufs
  • NP_001394594.1:p.Ser188Leufs
  • NP_001394595.1:p.Ser188Leufs
  • NP_001394596.1:p.Ser188Leufs
  • NP_001394597.1:p.Ser188Leufs
  • NP_001394598.1:p.Ser188Leufs
  • NP_001394599.1:p.Ser187Leufs
  • NP_001394600.1:p.Ser187Leufs
  • NP_001394601.1:p.Ser187Leufs
  • NP_001394602.1:p.Ser187Leufs
  • NP_001394603.1:p.Ser188Leufs
  • NP_001394604.1:p.Ser188Leufs
  • NP_001394605.1:p.Ser188Leufs
  • NP_001394606.1:p.Ser188Leufs
  • NP_001394607.1:p.Ser188Leufs
  • NP_001394608.1:p.Ser188Leufs
  • NP_001394609.1:p.Ser188Leufs
  • NP_001394610.1:p.Ser188Leufs
  • NP_001394611.1:p.Ser188Leufs
  • NP_001394612.1:p.Ser188Leufs
  • NP_001394613.1:p.Ser229Leufs
  • NP_001394614.1:p.Ser187Leufs
  • NP_001394615.1:p.Ser187Leufs
  • NP_001394616.1:p.Ser187Leufs
  • NP_001394617.1:p.Ser187Leufs
  • NP_001394618.1:p.Ser187Leufs
  • NP_001394619.1:p.Ser187Leufs
  • NP_001394620.1:p.Ser187Leufs
  • NP_001394621.1:p.Ser182Leufs
  • NP_001394623.1:p.Ser182Leufs
  • NP_001394624.1:p.Ser182Leufs
  • NP_001394625.1:p.Ser182Leufs
  • NP_001394626.1:p.Ser182Leufs
  • NP_001394627.1:p.Ser182Leufs
  • NP_001394653.1:p.Ser182Leufs
  • NP_001394654.1:p.Ser182Leufs
  • NP_001394655.1:p.Ser182Leufs
  • NP_001394656.1:p.Ser182Leufs
  • NP_001394657.1:p.Ser182Leufs
  • NP_001394658.1:p.Ser182Leufs
  • NP_001394659.1:p.Ser182Leufs
  • NP_001394660.1:p.Ser182Leufs
  • NP_001394661.1:p.Ser182Leufs
  • NP_001394662.1:p.Ser182Leufs
  • NP_001394663.1:p.Ser182Leufs
  • NP_001394664.1:p.Ser182Leufs
  • NP_001394665.1:p.Ser182Leufs
  • NP_001394666.1:p.Ser182Leufs
  • NP_001394667.1:p.Ser182Leufs
  • NP_001394668.1:p.Ser182Leufs
  • NP_001394669.1:p.Ser181Leufs
  • NP_001394670.1:p.Ser181Leufs
  • NP_001394671.1:p.Ser181Leufs
  • NP_001394672.1:p.Ser181Leufs
  • NP_001394673.1:p.Ser181Leufs
  • NP_001394674.1:p.Ser181Leufs
  • NP_001394675.1:p.Ser181Leufs
  • NP_001394676.1:p.Ser181Leufs
  • NP_001394677.1:p.Ser181Leufs
  • NP_001394678.1:p.Ser181Leufs
  • NP_001394679.1:p.Ser182Leufs
  • NP_001394680.1:p.Ser182Leufs
  • NP_001394681.1:p.Ser182Leufs
  • NP_001394767.1:p.Ser181Leufs
  • NP_001394768.1:p.Ser181Leufs
  • NP_001394770.1:p.Ser181Leufs
  • NP_001394771.1:p.Ser181Leufs
  • NP_001394772.1:p.Ser181Leufs
  • NP_001394773.1:p.Ser181Leufs
  • NP_001394774.1:p.Ser181Leufs
  • NP_001394775.1:p.Ser181Leufs
  • NP_001394776.1:p.Ser181Leufs
  • NP_001394777.1:p.Ser181Leufs
  • NP_001394778.1:p.Ser181Leufs
  • NP_001394779.1:p.Ser182Leufs
  • NP_001394780.1:p.Ser182Leufs
  • NP_001394781.1:p.Ser182Leufs
  • NP_001394782.1:p.Ser158Leufs
  • NP_001394783.1:p.Ser229Leufs
  • NP_001394787.1:p.Ser229Leufs
  • NP_001394788.1:p.Ser229Leufs
  • NP_001394789.1:p.Ser228Leufs
  • NP_001394790.1:p.Ser228Leufs
  • NP_001394791.1:p.Ser162Leufs
  • NP_001394792.1:p.Ser188Leufs
  • NP_001394803.1:p.Ser161Leufs
  • NP_001394804.1:p.Ser161Leufs
  • NP_001394808.1:p.Ser159Leufs
  • NP_001394810.1:p.Ser159Leufs
  • NP_001394811.1:p.Ser159Leufs
  • NP_001394813.1:p.Ser159Leufs
  • NP_001394814.1:p.Ser159Leufs
  • NP_001394815.1:p.Ser159Leufs
  • NP_001394816.1:p.Ser159Leufs
  • NP_001394818.1:p.Ser159Leufs
  • NP_001394823.1:p.Ser158Leufs
  • NP_001394824.1:p.Ser158Leufs
  • NP_001394825.1:p.Ser158Leufs
  • NP_001394826.1:p.Ser158Leufs
  • NP_001394827.1:p.Ser158Leufs
  • NP_001394828.1:p.Ser158Leufs
  • NP_001394829.1:p.Ser159Leufs
  • NP_001394831.1:p.Ser159Leufs
  • NP_001394833.1:p.Ser159Leufs
  • NP_001394835.1:p.Ser159Leufs
  • NP_001394836.1:p.Ser159Leufs
  • NP_001394837.1:p.Ser159Leufs
  • NP_001394838.1:p.Ser159Leufs
  • NP_001394839.1:p.Ser159Leufs
  • NP_001394844.1:p.Ser158Leufs
  • NP_001394845.1:p.Ser158Leufs
  • NP_001394846.1:p.Ser158Leufs
  • NP_001394847.1:p.Ser158Leufs
  • NP_001394848.1:p.Ser188Leufs
  • NP_001394849.1:p.Ser141Leufs
  • NP_001394850.1:p.Ser141Leufs
  • NP_001394851.1:p.Ser141Leufs
  • NP_001394852.1:p.Ser141Leufs
  • NP_001394853.1:p.Ser141Leufs
  • NP_001394854.1:p.Ser141Leufs
  • NP_001394855.1:p.Ser141Leufs
  • NP_001394856.1:p.Ser141Leufs
  • NP_001394857.1:p.Ser141Leufs
  • NP_001394858.1:p.Ser141Leufs
  • NP_001394859.1:p.Ser140Leufs
  • NP_001394860.1:p.Ser140Leufs
  • NP_001394861.1:p.Ser140Leufs
  • NP_001394862.1:p.Ser141Leufs
  • NP_001394863.1:p.Ser140Leufs
  • NP_001394864.1:p.Ser141Leufs
  • NP_001394865.1:p.Ser140Leufs
  • NP_001394866.1:p.Ser188Leufs
  • NP_001394867.1:p.Ser188Leufs
  • NP_001394868.1:p.Ser188Leufs
  • NP_001394869.1:p.Ser187Leufs
  • NP_001394870.1:p.Ser187Leufs
  • NP_001394871.1:p.Ser182Leufs
  • NP_001394872.1:p.Ser181Leufs
  • NP_001394873.1:p.Ser182Leufs
  • NP_001394874.1:p.Ser182Leufs
  • NP_001394875.1:p.Ser118Leufs
  • NP_001394876.1:p.Ser118Leufs
  • NP_001394877.1:p.Ser118Leufs
  • NP_001394878.1:p.Ser118Leufs
  • NP_001394879.1:p.Ser118Leufs
  • NP_001394880.1:p.Ser118Leufs
  • NP_001394881.1:p.Ser118Leufs
  • NP_001394882.1:p.Ser118Leufs
  • NP_001394883.1:p.Ser117Leufs
  • NP_001394884.1:p.Ser117Leufs
  • NP_001394885.1:p.Ser117Leufs
  • NP_001394886.1:p.Ser118Leufs
  • NP_001394887.1:p.Ser117Leufs
  • NP_001394888.1:p.Ser102Leufs
  • NP_001394889.1:p.Ser102Leufs
  • NP_001394891.1:p.Ser101Leufs
  • NP_001394892.1:p.Ser102Leufs
  • NP_001394893.1:p.Ser181Leufs
  • NP_001394894.1:p.Ser61Leufs
  • NP_001394897.1:p.Ser229Leufs
  • NP_001394898.1:p.Ser229Leufs
  • NP_001394899.1:p.Ser229Leufs
  • NP_001394900.1:p.Ser229Leufs
  • NP_001394901.1:p.Ser228Leufs
  • NP_001394902.1:p.Ser229Leufs
  • NP_001394903.1:p.Ser229Leufs
  • NP_001394904.1:p.Ser229Leufs
  • NP_001394905.1:p.Ser229Leufs
  • NP_001394906.1:p.Ser229Leufs
  • NP_001394907.1:p.Ser229Leufs
  • NP_001394908.1:p.Ser229Leufs
  • NP_001394909.1:p.Ser229Leufs
  • NP_001394910.1:p.Ser229Leufs
  • NP_001394911.1:p.Ser229Leufs
  • NP_001394912.1:p.Ser229Leufs
  • NP_001394913.1:p.Ser228Leufs
  • NP_001394914.1:p.Ser228Leufs
  • NP_001394915.1:p.Ser228Leufs
  • NP_001394919.1:p.Ser229Leufs
  • NP_001394920.1:p.Ser228Leufs
  • NP_001394921.1:p.Ser228Leufs
  • NP_001394922.1:p.Ser229Leufs
  • NP_001395321.1:p.Ser228Leufs
  • NP_001395325.1:p.Ser228Leufs
  • NP_001395326.1:p.Ser228Leufs
  • NP_001395327.1:p.Ser228Leufs
  • NP_001395328.1:p.Ser228Leufs
  • NP_001395329.1:p.Ser228Leufs
  • NP_001395330.1:p.Ser228Leufs
  • NP_001395331.1:p.Ser228Leufs
  • NP_001395332.1:p.Ser229Leufs
  • NP_001395333.1:p.Ser229Leufs
  • NP_001395335.1:p.Ser229Leufs
  • NP_001395336.1:p.Ser228Leufs
  • NP_001395337.1:p.Ser226Leufs
  • NP_001395338.1:p.Ser203Leufs
  • NP_001395339.1:p.Ser182Leufs
  • NP_001395340.1:p.Ser203Leufs
  • NP_001395341.1:p.Ser203Leufs
  • NP_001395342.1:p.Ser202Leufs
  • NP_001395343.1:p.Ser203Leufs
  • NP_001395344.1:p.Ser203Leufs
  • NP_001395345.1:p.Ser202Leufs
  • NP_001395354.1:p.Ser188Leufs
  • NP_001395355.1:p.Ser188Leufs
  • NP_001395356.1:p.Ser188Leufs
  • NP_001395357.1:p.Ser188Leufs
  • NP_001395358.1:p.Ser188Leufs
  • NP_001395359.1:p.Ser188Leufs
  • NP_001395361.1:p.Ser187Leufs
  • NP_001395362.1:p.Ser187Leufs
  • NP_001395363.1:p.Ser187Leufs
  • NP_001395364.1:p.Ser187Leufs
  • NP_001395365.1:p.Ser188Leufs
  • NP_001395366.1:p.Ser188Leufs
  • NP_001395367.1:p.Ser188Leufs
  • NP_001395368.1:p.Ser188Leufs
  • NP_001395369.1:p.Ser188Leufs
  • NP_001395370.1:p.Ser188Leufs
  • NP_001395371.1:p.Ser188Leufs
  • NP_001395372.1:p.Ser188Leufs
  • NP_001395373.1:p.Ser188Leufs
  • NP_001395374.1:p.Ser187Leufs
  • NP_001395375.1:p.Ser187Leufs
  • NP_001395376.1:p.Ser187Leufs
  • NP_001395377.1:p.Ser187Leufs
  • NP_001395379.1:p.Ser187Leufs
  • NP_001395380.1:p.Ser184Leufs
  • NP_001395381.1:p.Ser182Leufs
  • NP_001395382.1:p.Ser182Leufs
  • NP_001395383.1:p.Ser182Leufs
  • NP_001395384.1:p.Ser182Leufs
  • NP_001395385.1:p.Ser182Leufs
  • NP_001395386.1:p.Ser182Leufs
  • NP_001395387.1:p.Ser182Leufs
  • NP_001395388.1:p.Ser182Leufs
  • NP_001395389.1:p.Ser182Leufs
  • NP_001395390.1:p.Ser182Leufs
  • NP_001395391.1:p.Ser181Leufs
  • NP_001395392.1:p.Ser181Leufs
  • NP_001395393.1:p.Ser181Leufs
  • NP_001395394.1:p.Ser181Leufs
  • NP_001395395.1:p.Ser182Leufs
  • NP_001395396.1:p.Ser182Leufs
  • NP_001395397.1:p.Ser181Leufs
  • NP_001395398.1:p.Ser182Leufs
  • NP_001395399.1:p.Ser181Leufs
  • NP_001395401.1:p.Ser229Leufs
  • NP_001395402.1:p.Ser228Leufs
  • NP_001395403.1:p.Ser162Leufs
  • NP_001395404.1:p.Ser161Leufs
  • NP_001395405.1:p.Ser162Leufs
  • NP_001395407.1:p.Ser159Leufs
  • NP_001395408.1:p.Ser159Leufs
  • NP_001395409.1:p.Ser159Leufs
  • NP_001395410.1:p.Ser159Leufs
  • NP_001395411.1:p.Ser159Leufs
  • NP_001395412.1:p.Ser159Leufs
  • NP_001395413.1:p.Ser159Leufs
  • NP_001395414.1:p.Ser159Leufs
  • NP_001395418.1:p.Ser159Leufs
  • NP_001395419.1:p.Ser158Leufs
  • NP_001395420.1:p.Ser158Leufs
  • NP_001395421.1:p.Ser159Leufs
  • NP_001395422.1:p.Ser158Leufs
  • NP_001395425.1:p.Ser141Leufs
  • NP_001395426.1:p.Ser141Leufs
  • NP_001395427.1:p.Ser141Leufs
  • NP_001395428.1:p.Ser141Leufs
  • NP_001395429.1:p.Ser141Leufs
  • NP_001395430.1:p.Ser141Leufs
  • NP_001395431.1:p.Ser118Leufs
  • NP_001395432.1:p.Ser140Leufs
  • NP_001395433.1:p.Ser140Leufs
  • NP_001395434.1:p.Ser140Leufs
  • NP_001395437.1:p.Ser117Leufs
  • NP_001395438.1:p.Ser117Leufs
  • NP_001395439.1:p.Ser102Leufs
  • NP_001395441.1:p.Ser61Leufs
  • NP_001395442.1:p.Ser159Leufs
  • NP_001395443.1:p.Ser159Leufs
  • NP_009225.1:p.Ser229Leufs
  • NP_009225.1:p.Ser229fs
  • NP_009228.2:p.Ser182fs
  • NP_009229.2:p.Ser229Leufs
  • NP_009229.2:p.Ser229fs
  • NP_009230.2:p.Ser229fs
  • NP_009231.2:p.Ser229fs
  • NP_009235.2:p.Ser229Leufs
  • LRG_292t1:c.682del
  • LRG_292:g.123138del
  • LRG_292p1:p.Ser229Leufs
  • NC_000017.10:g.41246863del
  • NC_000017.10:g.41246866del
  • NM_007294.3:c.682delT
  • NM_007294.3:c.685delT
  • NM_007294.4:c.685del
  • NM_007298.3:c.685del
  • NR_027676.2:n.862del
  • U14680.1:n.804delT
Protein change:
S182fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 804&base_change=del T; dbSNP: rs80357824
NCBI 1000 Genomes Browser:
rs80357824
Molecular consequence:
  • NM_001407571.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.673delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.673delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.601delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.601delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.601delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.601delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.481delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.478delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.478delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.346delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.346delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.346delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.346delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.301delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.301delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.298delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.301delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.178delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.673delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.601delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.604delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.601delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.559delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.556delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.547delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.541delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.538delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.679delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.481delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.478delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.481delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.469delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.418delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.349delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.415delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.346delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.346delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.301delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.178delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.472delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.544del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.682delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.862del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001342720Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 15, 2020) 		germlineclinical testing

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

SCV002666051Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Jun 4, 2020) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

Kang PC, Phuah SY, Sivanandan K, Kang IN, Thirthagiri E, Liu JJ, Hassan N, Yoon SY, Thong MK, Hui M, Hartman M, Yip CH, Mohd Taib NA, Teo SH.

Breast Cancer Res Treat. 2014 Apr;144(3):635-42. doi: 10.1007/s10549-014-2894-x. Epub 2014 Mar 1. Erratum in: Breast Cancer Res Treat. 2015 Apr;150(3):699-700.

PubMed [citation]
PMID:
24578176
See all PubMed Citations (7)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001342720.2

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

Description

This variant deletes 1 nucleotide in exon 10 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. 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

From Ambry Genetics, SCV002666051.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

The c.685delT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 685, causing a translational frameshift with a predicted alternate stop codon (p.S229Lfs*5). This alteration was identified in multiple individuals diagnosed with breast and/or ovarian cancer (Rashid MU et al. BMC Cancer, 2016 08;16:673; Singh J et al. Breast Cancer Res. Treat., 2018 Jul;170:189-196). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024