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NM_007294.4(BRCA1):c.134+3_134+6del AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 5, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002381349.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+3_134+6del]

NM_007294.4(BRCA1):c.134+3_134+6del

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.134+3_134+6del
HGVS:
  • NC_000017.11:g.43115720ACTT[1]
  • NG_005905.2:g.102257AAGT[1]
  • NM_001407571.1:c.-55+3_-55+6del
  • NM_001407581.1:c.134+3_134+6del
  • NM_001407582.1:c.134+3_134+6del
  • NM_001407583.1:c.134+3_134+6del
  • NM_001407585.1:c.134+3_134+6del
  • NM_001407587.1:c.134+3_134+6del
  • NM_001407590.1:c.134+3_134+6del
  • NM_001407591.1:c.134+3_134+6del
  • NM_001407593.1:c.134+3_134+6del
  • NM_001407594.1:c.134+3_134+6del
  • NM_001407596.1:c.134+3_134+6del
  • NM_001407597.1:c.134+3_134+6del
  • NM_001407598.1:c.134+3_134+6del
  • NM_001407602.1:c.134+3_134+6del
  • NM_001407603.1:c.134+3_134+6del
  • NM_001407605.1:c.134+3_134+6del
  • NM_001407610.1:c.134+3_134+6del
  • NM_001407611.1:c.134+3_134+6del
  • NM_001407612.1:c.134+3_134+6del
  • NM_001407613.1:c.134+3_134+6del
  • NM_001407614.1:c.134+3_134+6del
  • NM_001407615.1:c.134+3_134+6del
  • NM_001407616.1:c.134+3_134+6del
  • NM_001407617.1:c.134+3_134+6del
  • NM_001407618.1:c.134+3_134+6del
  • NM_001407619.1:c.134+3_134+6del
  • NM_001407620.1:c.134+3_134+6del
  • NM_001407621.1:c.134+3_134+6del
  • NM_001407622.1:c.134+3_134+6del
  • NM_001407623.1:c.134+3_134+6del
  • NM_001407624.1:c.134+3_134+6del
  • NM_001407625.1:c.134+3_134+6del
  • NM_001407626.1:c.134+3_134+6del
  • NM_001407627.1:c.134+3_134+6del
  • NM_001407628.1:c.134+3_134+6del
  • NM_001407629.1:c.134+3_134+6del
  • NM_001407630.1:c.134+3_134+6del
  • NM_001407631.1:c.134+3_134+6del
  • NM_001407632.1:c.134+3_134+6del
  • NM_001407633.1:c.134+3_134+6del
  • NM_001407634.1:c.134+3_134+6del
  • NM_001407635.1:c.134+3_134+6del
  • NM_001407636.1:c.134+3_134+6del
  • NM_001407637.1:c.134+3_134+6del
  • NM_001407638.1:c.134+3_134+6del
  • NM_001407639.1:c.134+3_134+6del
  • NM_001407640.1:c.134+3_134+6del
  • NM_001407641.1:c.134+3_134+6del
  • NM_001407642.1:c.134+3_134+6del
  • NM_001407644.1:c.134+3_134+6del
  • NM_001407645.1:c.134+3_134+6del
  • NM_001407646.1:c.134+3_134+6del
  • NM_001407647.1:c.134+3_134+6del
  • NM_001407648.1:c.134+3_134+6del
  • NM_001407649.1:c.134+3_134+6del
  • NM_001407652.1:c.134+3_134+6del
  • NM_001407653.1:c.134+3_134+6del
  • NM_001407654.1:c.134+3_134+6del
  • NM_001407655.1:c.134+3_134+6del
  • NM_001407656.1:c.134+3_134+6del
  • NM_001407657.1:c.134+3_134+6del
  • NM_001407658.1:c.134+3_134+6del
  • NM_001407659.1:c.134+3_134+6del
  • NM_001407660.1:c.134+3_134+6del
  • NM_001407661.1:c.134+3_134+6del
  • NM_001407662.1:c.134+3_134+6del
  • NM_001407663.1:c.134+3_134+6del
  • NM_001407664.1:c.134+3_134+6del
  • NM_001407665.1:c.134+3_134+6del
  • NM_001407666.1:c.134+3_134+6del
  • NM_001407667.1:c.134+3_134+6del
  • NM_001407668.1:c.134+3_134+6del
  • NM_001407669.1:c.134+3_134+6del
  • NM_001407670.1:c.134+3_134+6del
  • NM_001407671.1:c.134+3_134+6del
  • NM_001407672.1:c.134+3_134+6del
  • NM_001407673.1:c.134+3_134+6del
  • NM_001407674.1:c.134+3_134+6del
  • NM_001407675.1:c.134+3_134+6del
  • NM_001407676.1:c.134+3_134+6del
  • NM_001407677.1:c.134+3_134+6del
  • NM_001407678.1:c.134+3_134+6del
  • NM_001407679.1:c.134+3_134+6del
  • NM_001407680.1:c.134+3_134+6del
  • NM_001407681.1:c.134+3_134+6del
  • NM_001407682.1:c.134+3_134+6del
  • NM_001407683.1:c.134+3_134+6del
  • NM_001407684.1:c.134+3_134+6del
  • NM_001407685.1:c.134+3_134+6del
  • NM_001407686.1:c.134+3_134+6del
  • NM_001407687.1:c.134+3_134+6del
  • NM_001407688.1:c.134+3_134+6del
  • NM_001407689.1:c.134+3_134+6del
  • NM_001407690.1:c.134+3_134+6del
  • NM_001407691.1:c.134+3_134+6del
  • NM_001407692.1:c.-7-9190_-7-9187del
  • NM_001407694.1:c.-124+3_-124+6del
  • NM_001407695.1:c.-128+3_-128+6del
  • NM_001407696.1:c.-124+3_-124+6del
  • NM_001407697.1:c.-8+3_-8+6del
  • NM_001407698.1:c.-8+8294_-8+8297del
  • NM_001407724.1:c.-124+3_-124+6del
  • NM_001407725.1:c.-8+3_-8+6del
  • NM_001407726.1:c.-8+5835_-8+5838del
  • NM_001407727.1:c.-124+3_-124+6del
  • NM_001407728.1:c.-8+3_-8+6del
  • NM_001407729.1:c.-8+3_-8+6del
  • NM_001407730.1:c.-8+3_-8+6del
  • NM_001407731.1:c.-124+3_-124+6del
  • NM_001407732.1:c.-8+8294_-8+8297del
  • NM_001407733.1:c.-124+3_-124+6del
  • NM_001407734.1:c.-8+3_-8+6del
  • NM_001407735.1:c.-8+3_-8+6del
  • NM_001407736.1:c.-8+8294_-8+8297del
  • NM_001407737.1:c.-8+3_-8+6del
  • NM_001407738.1:c.-8+8294_-8+8297del
  • NM_001407739.1:c.-8+3_-8+6del
  • NM_001407740.1:c.-8+3_-8+6del
  • NM_001407741.1:c.-8+3_-8+6del
  • NM_001407742.1:c.-8+8294_-8+8297del
  • NM_001407743.1:c.-8+3_-8+6del
  • NM_001407744.1:c.-8+8294_-8+8297del
  • NM_001407745.1:c.-8+3_-8+6del
  • NM_001407746.1:c.-124+3_-124+6del
  • NM_001407747.1:c.-7-9190_-7-9187del
  • NM_001407748.1:c.-8+3_-8+6del
  • NM_001407749.1:c.-124+3_-124+6del
  • NM_001407750.1:c.-8+8294_-8+8297del
  • NM_001407751.1:c.-8+5835_-8+5838del
  • NM_001407752.1:c.-8+3_-8+6del
  • NM_001407838.1:c.-8+3_-8+6del
  • NM_001407839.1:c.-8+3_-8+6del
  • NM_001407841.1:c.-8+7_-8+10del
  • NM_001407842.1:c.-124+3_-124+6del
  • NM_001407843.1:c.-124+3_-124+6del
  • NM_001407844.1:c.-8+3_-8+6del
  • NM_001407845.1:c.-8+8294_-8+8297del
  • NM_001407846.1:c.-8+3_-8+6del
  • NM_001407847.1:c.-8+3_-8+6del
  • NM_001407848.1:c.-8+3_-8+6del
  • NM_001407849.1:c.-8+8294_-8+8297del
  • NM_001407850.1:c.-8+3_-8+6del
  • NM_001407851.1:c.-8+3_-8+6del
  • NM_001407852.1:c.-8+8294_-8+8297del
  • NM_001407853.1:c.-55+3_-55+6del
  • NM_001407854.1:c.134+3_134+6del
  • NM_001407858.1:c.134+3_134+6del
  • NM_001407859.1:c.134+3_134+6del
  • NM_001407860.1:c.134+3_134+6del
  • NM_001407861.1:c.134+3_134+6del
  • NM_001407862.1:c.134+3_134+6del
  • NM_001407863.1:c.134+3_134+6del
  • NM_001407874.1:c.134+3_134+6del
  • NM_001407875.1:c.134+3_134+6del
  • NM_001407879.1:c.-55+3_-55+6del
  • NM_001407881.1:c.-55+8294_-55+8297del
  • NM_001407882.1:c.-55+3_-55+6del
  • NM_001407884.1:c.-55+3_-55+6del
  • NM_001407885.1:c.-55+3_-55+6del
  • NM_001407886.1:c.-55+3_-55+6del
  • NM_001407887.1:c.-55+3_-55+6del
  • NM_001407889.1:c.-171+3_-171+6del
  • NM_001407894.1:c.-55+3_-55+6del
  • NM_001407895.1:c.-55+3_-55+6del
  • NM_001407896.1:c.-55+3_-55+6del
  • NM_001407897.1:c.-55+3_-55+6del
  • NM_001407898.1:c.-55+8294_-55+8297del
  • NM_001407899.1:c.-55+3_-55+6del
  • NM_001407900.1:c.-171+3_-171+6del
  • NM_001407902.1:c.-55+8294_-55+8297del
  • NM_001407904.1:c.-55+3_-55+6del
  • NM_001407906.1:c.-55+3_-55+6del
  • NM_001407907.1:c.-55+3_-55+6del
  • NM_001407908.1:c.-55+3_-55+6del
  • NM_001407909.1:c.-55+3_-55+6del
  • NM_001407910.1:c.-55+3_-55+6del
  • NM_001407915.1:c.-55+3_-55+6del
  • NM_001407916.1:c.-55+3_-55+6del
  • NM_001407917.1:c.-55+3_-55+6del
  • NM_001407918.1:c.-55+3_-55+6del
  • NM_001407919.1:c.134+3_134+6del
  • NM_001407920.1:c.-8+3_-8+6del
  • NM_001407921.1:c.-8+3_-8+6del
  • NM_001407922.1:c.-8+3_-8+6del
  • NM_001407923.1:c.-8+3_-8+6del
  • NM_001407924.1:c.-8+8294_-8+8297del
  • NM_001407925.1:c.-8+8294_-8+8297del
  • NM_001407926.1:c.-8+3_-8+6del
  • NM_001407927.1:c.-8+3_-8+6del
  • NM_001407928.1:c.-8+8294_-8+8297del
  • NM_001407929.1:c.-8+8294_-8+8297del
  • NM_001407930.1:c.-124+3_-124+6del
  • NM_001407931.1:c.-7-9190_-7-9187del
  • NM_001407932.1:c.-8+8294_-8+8297del
  • NM_001407933.1:c.-8+3_-8+6del
  • NM_001407934.1:c.-8+3_-8+6del
  • NM_001407935.1:c.-8+3_-8+6del
  • NM_001407936.1:c.-8+8294_-8+8297del
  • NM_001407937.1:c.134+3_134+6del
  • NM_001407938.1:c.134+3_134+6del
  • NM_001407939.1:c.134+3_134+6del
  • NM_001407940.1:c.134+3_134+6del
  • NM_001407941.1:c.134+3_134+6del
  • NM_001407942.1:c.-124+3_-124+6del
  • NM_001407943.1:c.-8+3_-8+6del
  • NM_001407944.1:c.-8+3_-8+6del
  • NM_001407945.1:c.-8+8294_-8+8297del
  • NM_001407946.1:c.-55+3_-55+6del
  • NM_001407947.1:c.-55+3_-55+6del
  • NM_001407948.1:c.-55+3_-55+6del
  • NM_001407949.1:c.-55+3_-55+6del
  • NM_001407950.1:c.-55+3_-55+6del
  • NM_001407951.1:c.-55+3_-55+6del
  • NM_001407952.1:c.-55+3_-55+6del
  • NM_001407953.1:c.-55+3_-55+6del
  • NM_001407954.1:c.-55+3_-55+6del
  • NM_001407955.1:c.-55+3_-55+6del
  • NM_001407956.1:c.-55+3_-55+6del
  • NM_001407957.1:c.-55+3_-55+6del
  • NM_001407958.1:c.-55+3_-55+6del
  • NM_001407959.1:c.-170+9554_-170+9557del
  • NM_001407960.1:c.-170+3_-170+6del
  • NM_001407962.1:c.-170+3_-170+6del
  • NM_001407963.1:c.-170+9548_-170+9551del
  • NM_001407964.1:c.-8+3_-8+6del
  • NM_001407965.1:c.-286+3_-286+6del
  • NM_001407966.1:c.-219+9548_-219+9551del
  • NM_001407967.1:c.-219+9554_-219+9557del
  • NM_001407968.1:c.134+3_134+6del
  • NM_001407969.1:c.134+3_134+6del
  • NM_001407970.1:c.134+3_134+6del
  • NM_001407971.1:c.134+3_134+6del
  • NM_001407972.1:c.134+3_134+6del
  • NM_001407973.1:c.134+3_134+6del
  • NM_001407974.1:c.134+3_134+6del
  • NM_001407975.1:c.134+3_134+6del
  • NM_001407976.1:c.134+3_134+6del
  • NM_001407977.1:c.134+3_134+6del
  • NM_001407978.1:c.134+3_134+6del
  • NM_001407979.1:c.134+3_134+6del
  • NM_001407980.1:c.134+3_134+6del
  • NM_001407981.1:c.134+3_134+6del
  • NM_001407982.1:c.134+3_134+6del
  • NM_001407983.1:c.134+3_134+6del
  • NM_001407984.1:c.134+3_134+6del
  • NM_001407985.1:c.134+3_134+6del
  • NM_001407986.1:c.134+3_134+6del
  • NM_001407990.1:c.134+3_134+6del
  • NM_001407991.1:c.134+3_134+6del
  • NM_001407992.1:c.134+3_134+6del
  • NM_001407993.1:c.134+3_134+6del
  • NM_001408392.1:c.134+3_134+6del
  • NM_001408396.1:c.134+3_134+6del
  • NM_001408397.1:c.134+3_134+6del
  • NM_001408398.1:c.134+3_134+6del
  • NM_001408399.1:c.134+3_134+6del
  • NM_001408400.1:c.134+3_134+6del
  • NM_001408401.1:c.134+3_134+6del
  • NM_001408402.1:c.134+3_134+6del
  • NM_001408403.1:c.134+3_134+6del
  • NM_001408404.1:c.134+3_134+6del
  • NM_001408406.1:c.134+3_134+6del
  • NM_001408407.1:c.134+3_134+6del
  • NM_001408408.1:c.134+3_134+6del
  • NM_001408409.1:c.134+3_134+6del
  • NM_001408410.1:c.-8+3_-8+6del
  • NM_001408411.1:c.134+3_134+6del
  • NM_001408412.1:c.134+3_134+6del
  • NM_001408413.1:c.134+3_134+6del
  • NM_001408414.1:c.134+3_134+6del
  • NM_001408415.1:c.134+3_134+6del
  • NM_001408416.1:c.134+3_134+6del
  • NM_001408418.1:c.134+3_134+6del
  • NM_001408419.1:c.134+3_134+6del
  • NM_001408420.1:c.134+3_134+6del
  • NM_001408421.1:c.134+3_134+6del
  • NM_001408422.1:c.134+3_134+6del
  • NM_001408423.1:c.134+3_134+6del
  • NM_001408424.1:c.134+3_134+6del
  • NM_001408425.1:c.134+3_134+6del
  • NM_001408426.1:c.134+3_134+6del
  • NM_001408427.1:c.134+3_134+6del
  • NM_001408428.1:c.134+3_134+6del
  • NM_001408429.1:c.134+3_134+6del
  • NM_001408430.1:c.134+3_134+6del
  • NM_001408431.1:c.134+3_134+6del
  • NM_001408432.1:c.134+3_134+6del
  • NM_001408433.1:c.134+3_134+6del
  • NM_001408434.1:c.134+3_134+6del
  • NM_001408435.1:c.134+3_134+6del
  • NM_001408436.1:c.134+3_134+6del
  • NM_001408437.1:c.134+3_134+6del
  • NM_001408438.1:c.134+3_134+6del
  • NM_001408439.1:c.134+3_134+6del
  • NM_001408440.1:c.134+3_134+6del
  • NM_001408441.1:c.134+3_134+6del
  • NM_001408442.1:c.134+3_134+6del
  • NM_001408443.1:c.134+3_134+6del
  • NM_001408444.1:c.134+3_134+6del
  • NM_001408445.1:c.134+3_134+6del
  • NM_001408446.1:c.134+3_134+6del
  • NM_001408447.1:c.134+3_134+6del
  • NM_001408448.1:c.134+3_134+6del
  • NM_001408450.1:c.134+3_134+6del
  • NM_001408451.1:c.80+8294_80+8297del
  • NM_001408452.1:c.-8+3_-8+6del
  • NM_001408453.1:c.-8+3_-8+6del
  • NM_001408454.1:c.-8+8294_-8+8297del
  • NM_001408455.1:c.-124+3_-124+6del
  • NM_001408456.1:c.-124+3_-124+6del
  • NM_001408457.1:c.-7-9190_-7-9187del
  • NM_001408458.1:c.-8+3_-8+6del
  • NM_001408459.1:c.-8+8294_-8+8297del
  • NM_001408460.1:c.-8+8294_-8+8297del
  • NM_001408461.1:c.-8+8294_-8+8297del
  • NM_001408462.1:c.-8+3_-8+6del
  • NM_001408463.1:c.-8+3_-8+6del
  • NM_001408464.1:c.-8+8294_-8+8297del
  • NM_001408465.1:c.-128+3_-128+6del
  • NM_001408466.1:c.-8+3_-8+6del
  • NM_001408467.1:c.-8+8294_-8+8297del
  • NM_001408468.1:c.-124+3_-124+6del
  • NM_001408469.1:c.-8+3_-8+6del
  • NM_001408470.1:c.-8+3_-8+6del
  • NM_001408472.1:c.134+3_134+6del
  • NM_001408473.1:c.134+3_134+6del
  • NM_001408474.1:c.134+3_134+6del
  • NM_001408475.1:c.134+3_134+6del
  • NM_001408476.1:c.134+3_134+6del
  • NM_001408478.1:c.-55+3_-55+6del
  • NM_001408479.1:c.-55+3_-55+6del
  • NM_001408480.1:c.-55+3_-55+6del
  • NM_001408481.1:c.-55+3_-55+6del
  • NM_001408482.1:c.-55+3_-55+6del
  • NM_001408483.1:c.-55+3_-55+6del
  • NM_001408484.1:c.-55+3_-55+6del
  • NM_001408485.1:c.-55+3_-55+6del
  • NM_001408489.1:c.-55+3_-55+6del
  • NM_001408490.1:c.-55+3_-55+6del
  • NM_001408491.1:c.-55+3_-55+6del
  • NM_001408492.1:c.-171+3_-171+6del
  • NM_001408493.1:c.-55+3_-55+6del
  • NM_001408494.1:c.134+3_134+6del
  • NM_001408495.1:c.134+3_134+6del
  • NM_001408496.1:c.-8+8294_-8+8297del
  • NM_001408497.1:c.-8+3_-8+6del
  • NM_001408498.1:c.-8+8294_-8+8297del
  • NM_001408499.1:c.-8+3_-8+6del
  • NM_001408500.1:c.-8+3_-8+6del
  • NM_001408501.1:c.-124+3_-124+6del
  • NM_001408502.1:c.-55+3_-55+6del
  • NM_001408503.1:c.-8+3_-8+6del
  • NM_001408504.1:c.-8+3_-8+6del
  • NM_001408505.1:c.-8+3_-8+6del
  • NM_001408506.1:c.-55+3_-55+6del
  • NM_001408507.1:c.-55+3_-55+6del
  • NM_001408508.1:c.-55+3_-55+6del
  • NM_001408509.1:c.-55+3_-55+6del
  • NM_001408510.1:c.-170+3_-170+6del
  • NM_001408511.1:c.-7-9190_-7-9187del
  • NM_001408512.1:c.-170+3_-170+6del
  • NM_001408513.1:c.-55+3_-55+6del
  • NM_001408514.1:c.-55+3_-55+6del
  • NM_007294.4:c.134+3_134+6delMANE SELECT
  • NM_007297.4:c.-8+8294_-8+8297del
  • NM_007298.4:c.134+3_134+6del
  • NM_007299.4:c.134+3_134+6del
  • NM_007300.4:c.134+3_134+6del
  • LRG_292t1:c.134+3_134+6del
  • LRG_292:g.102257AAGT[1]
  • NC_000017.10:g.41267737ACTT[1]
  • NM_007294.3:c.134+3_134+6del
  • NM_007294.3:c.134+3_134+6delAAGT
Links:
dbSNP: rs397508858
NCBI 1000 Genomes Browser:
rs397508858
Molecular consequence:
  • NM_001407692.1:c.-7-9190_-7-9187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5835_-8+5838del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9190_-7-9187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5835_-8+5838del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+7_-8+10del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8294_-55+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8294_-55+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8294_-55+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9190_-7-9187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9554_-170+9557del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9548_-170+9551del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9548_-219+9551del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9554_-219+9557del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8294_80+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9190_-7-9187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9190_-7-9187del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8294_-8+8297del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.-128+3_-128+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.-171+3_-171+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.-171+3_-171+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.-170+3_-170+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.-170+3_-170+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.-286+3_-286+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.-128+3_-128+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.-171+3_-171+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.-124+3_-124+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.-8+3_-8+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.-170+3_-170+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.-170+3_-170+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.-55+3_-55+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.134+3_134+6del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002694548Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Nov 5, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti CB, Ficarazzi F, Barile M, Varesco L, Peissel B, Manoukian S, Radice P.

PLoS One. 2013;8(2):e57173. doi: 10.1371/journal.pone.0057173. Epub 2013 Feb 22.

PubMed [citation]
PMID:
23451180
PMCID:
PMC3579815

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S.

Eur J Intern Med. 2016 Jul;32:65-71. doi: 10.1016/j.ejim.2016.03.010. Epub 2016 Apr 6.

PubMed [citation]
PMID:
27062684
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002694548.2

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

Description

The c.134+3_134+6delAAGT intronic variant, located in intron 2 of the BRCA1 gene, results from a deletion of 4 nucleotides within intron 2 of the BRCA1 gene. These nucleotide positions are well conserved in available vertebrate species. This variant was identified in multiple Italian breast/ovarian cancer families (Azzollini J et al. Eur. J. Intern. Med. 2016 Jul;32:65-71). In addition, functional analyses demonstrated that this alteration results in abnormal splicing and skipping of exon 3 (coding exon 2) (Caligo MA et al. Oncogene. 1996 Oct;13(7):1483-8.; Colombo M et al. PLoS ONE, 2013 Feb;8:e57173). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Nov 3, 2024