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NM_007294.4(BRCA1):c.134+2del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 2, 2015
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:
RCV000111850.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.134+2del]

NM_007294.4(BRCA1):c.134+2del

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.134+2del
Other names:
IVS3+2delT
HGVS:
  • NC_000017.11:g.43115724del
  • NG_005905.2:g.102260del
  • NM_001407571.1:c.-55+2del
  • NM_001407581.1:c.134+2del
  • NM_001407582.1:c.134+2del
  • NM_001407583.1:c.134+2del
  • NM_001407585.1:c.134+2del
  • NM_001407587.1:c.134+2del
  • NM_001407590.1:c.134+2del
  • NM_001407591.1:c.134+2del
  • NM_001407593.1:c.134+2del
  • NM_001407594.1:c.134+2del
  • NM_001407596.1:c.134+2del
  • NM_001407597.1:c.134+2del
  • NM_001407598.1:c.134+2del
  • NM_001407602.1:c.134+2del
  • NM_001407603.1:c.134+2del
  • NM_001407605.1:c.134+2del
  • NM_001407610.1:c.134+2del
  • NM_001407611.1:c.134+2del
  • NM_001407612.1:c.134+2del
  • NM_001407613.1:c.134+2del
  • NM_001407614.1:c.134+2del
  • NM_001407615.1:c.134+2del
  • NM_001407616.1:c.134+2del
  • NM_001407617.1:c.134+2del
  • NM_001407618.1:c.134+2del
  • NM_001407619.1:c.134+2del
  • NM_001407620.1:c.134+2del
  • NM_001407621.1:c.134+2del
  • NM_001407622.1:c.134+2del
  • NM_001407623.1:c.134+2del
  • NM_001407624.1:c.134+2del
  • NM_001407625.1:c.134+2del
  • NM_001407626.1:c.134+2del
  • NM_001407627.1:c.134+2del
  • NM_001407628.1:c.134+2del
  • NM_001407629.1:c.134+2del
  • NM_001407630.1:c.134+2del
  • NM_001407631.1:c.134+2del
  • NM_001407632.1:c.134+2del
  • NM_001407633.1:c.134+2del
  • NM_001407634.1:c.134+2del
  • NM_001407635.1:c.134+2del
  • NM_001407636.1:c.134+2del
  • NM_001407637.1:c.134+2del
  • NM_001407638.1:c.134+2del
  • NM_001407639.1:c.134+2del
  • NM_001407640.1:c.134+2del
  • NM_001407641.1:c.134+2del
  • NM_001407642.1:c.134+2del
  • NM_001407644.1:c.134+2del
  • NM_001407645.1:c.134+2del
  • NM_001407646.1:c.134+2del
  • NM_001407647.1:c.134+2del
  • NM_001407648.1:c.134+2del
  • NM_001407649.1:c.134+2del
  • NM_001407652.1:c.134+2del
  • NM_001407653.1:c.134+2del
  • NM_001407654.1:c.134+2del
  • NM_001407655.1:c.134+2del
  • NM_001407656.1:c.134+2del
  • NM_001407657.1:c.134+2del
  • NM_001407658.1:c.134+2del
  • NM_001407659.1:c.134+2del
  • NM_001407660.1:c.134+2del
  • NM_001407661.1:c.134+2del
  • NM_001407662.1:c.134+2del
  • NM_001407663.1:c.134+2del
  • NM_001407664.1:c.134+2del
  • NM_001407665.1:c.134+2del
  • NM_001407666.1:c.134+2del
  • NM_001407667.1:c.134+2del
  • NM_001407668.1:c.134+2del
  • NM_001407669.1:c.134+2del
  • NM_001407670.1:c.134+2del
  • NM_001407671.1:c.134+2del
  • NM_001407672.1:c.134+2del
  • NM_001407673.1:c.134+2del
  • NM_001407674.1:c.134+2del
  • NM_001407675.1:c.134+2del
  • NM_001407676.1:c.134+2del
  • NM_001407677.1:c.134+2del
  • NM_001407678.1:c.134+2del
  • NM_001407679.1:c.134+2del
  • NM_001407680.1:c.134+2del
  • NM_001407681.1:c.134+2del
  • NM_001407682.1:c.134+2del
  • NM_001407683.1:c.134+2del
  • NM_001407684.1:c.134+2del
  • NM_001407685.1:c.134+2del
  • NM_001407686.1:c.134+2del
  • NM_001407687.1:c.134+2del
  • NM_001407688.1:c.134+2del
  • NM_001407689.1:c.134+2del
  • NM_001407690.1:c.134+2del
  • NM_001407691.1:c.134+2del
  • NM_001407692.1:c.-7-9191del
  • NM_001407694.1:c.-124+2del
  • NM_001407695.1:c.-128+2del
  • NM_001407696.1:c.-124+2del
  • NM_001407697.1:c.-8+2del
  • NM_001407698.1:c.-8+8293del
  • NM_001407724.1:c.-124+2del
  • NM_001407725.1:c.-8+2del
  • NM_001407726.1:c.-8+5834del
  • NM_001407727.1:c.-124+2del
  • NM_001407728.1:c.-8+2del
  • NM_001407729.1:c.-8+2del
  • NM_001407730.1:c.-8+2del
  • NM_001407731.1:c.-124+2del
  • NM_001407732.1:c.-8+8293del
  • NM_001407733.1:c.-124+2del
  • NM_001407734.1:c.-8+2del
  • NM_001407735.1:c.-8+2del
  • NM_001407736.1:c.-8+8293del
  • NM_001407737.1:c.-8+2del
  • NM_001407738.1:c.-8+8293del
  • NM_001407739.1:c.-8+2del
  • NM_001407740.1:c.-8+2del
  • NM_001407741.1:c.-8+2del
  • NM_001407742.1:c.-8+8293del
  • NM_001407743.1:c.-8+2del
  • NM_001407744.1:c.-8+8293del
  • NM_001407745.1:c.-8+2del
  • NM_001407746.1:c.-124+2del
  • NM_001407747.1:c.-7-9191del
  • NM_001407748.1:c.-8+2del
  • NM_001407749.1:c.-124+2del
  • NM_001407750.1:c.-8+8293del
  • NM_001407751.1:c.-8+5834del
  • NM_001407752.1:c.-8+2del
  • NM_001407838.1:c.-8+2del
  • NM_001407839.1:c.-8+2del
  • NM_001407841.1:c.-8+6del
  • NM_001407842.1:c.-124+2del
  • NM_001407843.1:c.-124+2del
  • NM_001407844.1:c.-8+2del
  • NM_001407845.1:c.-8+8293del
  • NM_001407846.1:c.-8+2del
  • NM_001407847.1:c.-8+2del
  • NM_001407848.1:c.-8+2del
  • NM_001407849.1:c.-8+8293del
  • NM_001407850.1:c.-8+2del
  • NM_001407851.1:c.-8+2del
  • NM_001407852.1:c.-8+8293del
  • NM_001407853.1:c.-55+2del
  • NM_001407854.1:c.134+2del
  • NM_001407858.1:c.134+2del
  • NM_001407859.1:c.134+2del
  • NM_001407860.1:c.134+2del
  • NM_001407861.1:c.134+2del
  • NM_001407862.1:c.134+2del
  • NM_001407863.1:c.134+2del
  • NM_001407874.1:c.134+2del
  • NM_001407875.1:c.134+2del
  • NM_001407879.1:c.-55+2del
  • NM_001407881.1:c.-55+8293del
  • NM_001407882.1:c.-55+2del
  • NM_001407884.1:c.-55+2del
  • NM_001407885.1:c.-55+2del
  • NM_001407886.1:c.-55+2del
  • NM_001407887.1:c.-55+2del
  • NM_001407889.1:c.-171+2del
  • NM_001407894.1:c.-55+2del
  • NM_001407895.1:c.-55+2del
  • NM_001407896.1:c.-55+2del
  • NM_001407897.1:c.-55+2del
  • NM_001407898.1:c.-55+8293del
  • NM_001407899.1:c.-55+2del
  • NM_001407900.1:c.-171+2del
  • NM_001407902.1:c.-55+8293del
  • NM_001407904.1:c.-55+2del
  • NM_001407906.1:c.-55+2del
  • NM_001407907.1:c.-55+2del
  • NM_001407908.1:c.-55+2del
  • NM_001407909.1:c.-55+2del
  • NM_001407910.1:c.-55+2del
  • NM_001407915.1:c.-55+2del
  • NM_001407916.1:c.-55+2del
  • NM_001407917.1:c.-55+2del
  • NM_001407918.1:c.-55+2del
  • NM_001407919.1:c.134+2del
  • NM_001407920.1:c.-8+2del
  • NM_001407921.1:c.-8+2del
  • NM_001407922.1:c.-8+2del
  • NM_001407923.1:c.-8+2del
  • NM_001407924.1:c.-8+8293del
  • NM_001407925.1:c.-8+8293del
  • NM_001407926.1:c.-8+2del
  • NM_001407927.1:c.-8+2del
  • NM_001407928.1:c.-8+8293del
  • NM_001407929.1:c.-8+8293del
  • NM_001407930.1:c.-124+2del
  • NM_001407931.1:c.-7-9191del
  • NM_001407932.1:c.-8+8293del
  • NM_001407933.1:c.-8+2del
  • NM_001407934.1:c.-8+2del
  • NM_001407935.1:c.-8+2del
  • NM_001407936.1:c.-8+8293del
  • NM_001407937.1:c.134+2del
  • NM_001407938.1:c.134+2del
  • NM_001407939.1:c.134+2del
  • NM_001407940.1:c.134+2del
  • NM_001407941.1:c.134+2del
  • NM_001407942.1:c.-124+2del
  • NM_001407943.1:c.-8+2del
  • NM_001407944.1:c.-8+2del
  • NM_001407945.1:c.-8+8293del
  • NM_001407946.1:c.-55+2del
  • NM_001407947.1:c.-55+2del
  • NM_001407948.1:c.-55+2del
  • NM_001407949.1:c.-55+2del
  • NM_001407950.1:c.-55+2del
  • NM_001407951.1:c.-55+2del
  • NM_001407952.1:c.-55+2del
  • NM_001407953.1:c.-55+2del
  • NM_001407954.1:c.-55+2del
  • NM_001407955.1:c.-55+2del
  • NM_001407956.1:c.-55+2del
  • NM_001407957.1:c.-55+2del
  • NM_001407958.1:c.-55+2del
  • NM_001407959.1:c.-170+9553del
  • NM_001407960.1:c.-170+2del
  • NM_001407962.1:c.-170+2del
  • NM_001407963.1:c.-170+9547del
  • NM_001407964.1:c.-8+2del
  • NM_001407965.1:c.-286+2del
  • NM_001407966.1:c.-219+9547del
  • NM_001407967.1:c.-219+9553del
  • NM_001407968.1:c.134+2del
  • NM_001407969.1:c.134+2del
  • NM_001407970.1:c.134+2del
  • NM_001407971.1:c.134+2del
  • NM_001407972.1:c.134+2del
  • NM_001407973.1:c.134+2del
  • NM_001407974.1:c.134+2del
  • NM_001407975.1:c.134+2del
  • NM_001407976.1:c.134+2del
  • NM_001407977.1:c.134+2del
  • NM_001407978.1:c.134+2del
  • NM_001407979.1:c.134+2del
  • NM_001407980.1:c.134+2del
  • NM_001407981.1:c.134+2del
  • NM_001407982.1:c.134+2del
  • NM_001407983.1:c.134+2del
  • NM_001407984.1:c.134+2del
  • NM_001407985.1:c.134+2del
  • NM_001407986.1:c.134+2del
  • NM_001407990.1:c.134+2del
  • NM_001407991.1:c.134+2del
  • NM_001407992.1:c.134+2del
  • NM_001407993.1:c.134+2del
  • NM_001408392.1:c.134+2del
  • NM_001408396.1:c.134+2del
  • NM_001408397.1:c.134+2del
  • NM_001408398.1:c.134+2del
  • NM_001408399.1:c.134+2del
  • NM_001408400.1:c.134+2del
  • NM_001408401.1:c.134+2del
  • NM_001408402.1:c.134+2del
  • NM_001408403.1:c.134+2del
  • NM_001408404.1:c.134+2del
  • NM_001408406.1:c.134+2del
  • NM_001408407.1:c.134+2del
  • NM_001408408.1:c.134+2del
  • NM_001408409.1:c.134+2del
  • NM_001408410.1:c.-8+2del
  • NM_001408411.1:c.134+2del
  • NM_001408412.1:c.134+2del
  • NM_001408413.1:c.134+2del
  • NM_001408414.1:c.134+2del
  • NM_001408415.1:c.134+2del
  • NM_001408416.1:c.134+2del
  • NM_001408418.1:c.134+2del
  • NM_001408419.1:c.134+2del
  • NM_001408420.1:c.134+2del
  • NM_001408421.1:c.134+2del
  • NM_001408422.1:c.134+2del
  • NM_001408423.1:c.134+2del
  • NM_001408424.1:c.134+2del
  • NM_001408425.1:c.134+2del
  • NM_001408426.1:c.134+2del
  • NM_001408427.1:c.134+2del
  • NM_001408428.1:c.134+2del
  • NM_001408429.1:c.134+2del
  • NM_001408430.1:c.134+2del
  • NM_001408431.1:c.134+2del
  • NM_001408432.1:c.134+2del
  • NM_001408433.1:c.134+2del
  • NM_001408434.1:c.134+2del
  • NM_001408435.1:c.134+2del
  • NM_001408436.1:c.134+2del
  • NM_001408437.1:c.134+2del
  • NM_001408438.1:c.134+2del
  • NM_001408439.1:c.134+2del
  • NM_001408440.1:c.134+2del
  • NM_001408441.1:c.134+2del
  • NM_001408442.1:c.134+2del
  • NM_001408443.1:c.134+2del
  • NM_001408444.1:c.134+2del
  • NM_001408445.1:c.134+2del
  • NM_001408446.1:c.134+2del
  • NM_001408447.1:c.134+2del
  • NM_001408448.1:c.134+2del
  • NM_001408450.1:c.134+2del
  • NM_001408451.1:c.80+8293del
  • NM_001408452.1:c.-8+2del
  • NM_001408453.1:c.-8+2del
  • NM_001408454.1:c.-8+8293del
  • NM_001408455.1:c.-124+2del
  • NM_001408456.1:c.-124+2del
  • NM_001408457.1:c.-7-9191del
  • NM_001408458.1:c.-8+2del
  • NM_001408459.1:c.-8+8293del
  • NM_001408460.1:c.-8+8293del
  • NM_001408461.1:c.-8+8293del
  • NM_001408462.1:c.-8+2del
  • NM_001408463.1:c.-8+2del
  • NM_001408464.1:c.-8+8293del
  • NM_001408465.1:c.-128+2del
  • NM_001408466.1:c.-8+2del
  • NM_001408467.1:c.-8+8293del
  • NM_001408468.1:c.-124+2del
  • NM_001408469.1:c.-8+2del
  • NM_001408470.1:c.-8+2del
  • NM_001408472.1:c.134+2del
  • NM_001408473.1:c.134+2del
  • NM_001408474.1:c.134+2del
  • NM_001408475.1:c.134+2del
  • NM_001408476.1:c.134+2del
  • NM_001408478.1:c.-55+2del
  • NM_001408479.1:c.-55+2del
  • NM_001408480.1:c.-55+2del
  • NM_001408481.1:c.-55+2del
  • NM_001408482.1:c.-55+2del
  • NM_001408483.1:c.-55+2del
  • NM_001408484.1:c.-55+2del
  • NM_001408485.1:c.-55+2del
  • NM_001408489.1:c.-55+2del
  • NM_001408490.1:c.-55+2del
  • NM_001408491.1:c.-55+2del
  • NM_001408492.1:c.-171+2del
  • NM_001408493.1:c.-55+2del
  • NM_001408494.1:c.134+2del
  • NM_001408495.1:c.134+2del
  • NM_001408496.1:c.-8+8293del
  • NM_001408497.1:c.-8+2del
  • NM_001408498.1:c.-8+8293del
  • NM_001408499.1:c.-8+2del
  • NM_001408500.1:c.-8+2del
  • NM_001408501.1:c.-124+2del
  • NM_001408502.1:c.-55+2del
  • NM_001408503.1:c.-8+2del
  • NM_001408504.1:c.-8+2del
  • NM_001408505.1:c.-8+2del
  • NM_001408506.1:c.-55+2del
  • NM_001408507.1:c.-55+2del
  • NM_001408508.1:c.-55+2del
  • NM_001408509.1:c.-55+2del
  • NM_001408510.1:c.-170+2del
  • NM_001408511.1:c.-7-9191del
  • NM_001408512.1:c.-170+2del
  • NM_001408513.1:c.-55+2del
  • NM_001408514.1:c.-55+2del
  • NM_007294.4:c.134+2delMANE SELECT
  • NM_007297.4:c.-8+8293del
  • NM_007298.4:c.134+2del
  • NM_007299.4:c.134+2del
  • NM_007300.4:c.134+2del
  • LRG_292t1:c.134+2del
  • LRG_292:g.102260del
  • NC_000017.10:g.41267741del
  • NM_007294.3:c.134+2del
  • NM_007294.3:c.134+2delT
  • U14680.1:n.253+2delT
Links:
Breast Cancer Information Core (BIC) (BRCA1): 253+2&base_change=del T; dbSNP: rs273897657
NCBI 1000 Genomes Browser:
rs273897657
Molecular consequence:
  • NM_001407692.1:c.-7-9191del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5834del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9191del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5834del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-8+6del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9191del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9553del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9547del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9547del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9553del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9191del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9191del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8293del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.-128+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.-171+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.-171+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.-170+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.-170+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.-286+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.-128+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.-171+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.-124+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.-8+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.-170+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.-170+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408514.1:c.-55+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.134+2del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144417Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Sep 18, 2010) 		germlineclinical testing

SCV000325025Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

(CIMBA Mutation Classification guidelines May 2016)		Pathogenic
(Oct 2, 2015) 		germlineclinical testing

CIMBA_Mutation_Classification_guidelines_May16.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing
Chinesegermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325025.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot provided1not provided

Last Updated: Jun 23, 2024