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NM_007294.4(BRCA1):c.4358-2del AND not specified

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 6, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003321788.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4358-2del]

NM_007294.4(BRCA1):c.4358-2del

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.4358-2del
HGVS:
  • NC_000017.11:g.43076616del
  • NC_000017.11:g.43076618del
  • NG_005905.2:g.141368del
  • NM_001407571.1:c.4145-2del
  • NM_001407581.1:c.4424-2del
  • NM_001407582.1:c.4424-2del
  • NM_001407583.1:c.4424-5del
  • NM_001407585.1:c.4424-5del
  • NM_001407587.1:c.4421-2del
  • NM_001407590.1:c.4421-5del
  • NM_001407591.1:c.4421-5del
  • NM_001407593.1:c.4358-2del
  • NM_001407594.1:c.4358-2del
  • NM_001407596.1:c.4358-2del
  • NM_001407597.1:c.4358-2del
  • NM_001407598.1:c.4358-2del
  • NM_001407602.1:c.4358-2del
  • NM_001407603.1:c.4358-2del
  • NM_001407605.1:c.4358-2del
  • NM_001407610.1:c.4355-2del
  • NM_001407611.1:c.4355-2del
  • NM_001407612.1:c.4355-2del
  • NM_001407613.1:c.4355-2del
  • NM_001407614.1:c.4355-2del
  • NM_001407615.1:c.4355-2del
  • NM_001407616.1:c.4358-5del
  • NM_001407617.1:c.4358-5del
  • NM_001407618.1:c.4358-5del
  • NM_001407619.1:c.4358-5del
  • NM_001407620.1:c.4358-5del
  • NM_001407621.1:c.4358-5del
  • NM_001407622.1:c.4358-5del
  • NM_001407623.1:c.4358-5del
  • NM_001407624.1:c.4355-2del
  • NM_001407625.1:c.4355-2del
  • NM_001407626.1:c.4355-2del
  • NM_001407627.1:c.4352-2del
  • NM_001407628.1:c.4352-2del
  • NM_001407629.1:c.4352-2del
  • NM_001407630.1:c.4352-2del
  • NM_001407631.1:c.4352-2del
  • NM_001407632.1:c.4352-2del
  • NM_001407633.1:c.4355-5del
  • NM_001407634.1:c.4355-5del
  • NM_001407635.1:c.4355-5del
  • NM_001407636.1:c.4355-5del
  • NM_001407637.1:c.4355-5del
  • NM_001407638.1:c.4355-5del
  • NM_001407639.1:c.4355-5del
  • NM_001407640.1:c.4355-5del
  • NM_001407641.1:c.4355-5del
  • NM_001407642.1:c.4355-5del
  • NM_001407644.1:c.4352-5del
  • NM_001407645.1:c.4352-5del
  • NM_001407646.1:c.4346-2del
  • NM_001407647.1:c.4346-5del
  • NM_001407648.1:c.4301-2del
  • NM_001407649.1:c.4298-2del
  • NM_001407652.1:c.4358-2del
  • NM_001407653.1:c.4280-2del
  • NM_001407654.1:c.4280-2del
  • NM_001407655.1:c.4280-2del
  • NM_001407656.1:c.4277-2del
  • NM_001407657.1:c.4280-5del
  • NM_001407658.1:c.4280-5del
  • NM_001407659.1:c.4274-2del
  • NM_001407660.1:c.4274-2del
  • NM_001407661.1:c.4277-5del
  • NM_001407662.1:c.4277-5del
  • NM_001407663.1:c.4277-5del
  • NM_001407664.1:c.4235-2del
  • NM_001407665.1:c.4235-2del
  • NM_001407666.1:c.4235-2del
  • NM_001407667.1:c.4235-2del
  • NM_001407668.1:c.4235-2del
  • NM_001407669.1:c.4235-2del
  • NM_001407670.1:c.4232-2del
  • NM_001407671.1:c.4232-2del
  • NM_001407672.1:c.4232-2del
  • NM_001407673.1:c.4232-2del
  • NM_001407674.1:c.4232-2del
  • NM_001407675.1:c.4232-2del
  • NM_001407676.1:c.4232-2del
  • NM_001407677.1:c.4235-5del
  • NM_001407678.1:c.4235-5del
  • NM_001407679.1:c.4235-5del
  • NM_001407680.1:c.4235-5del
  • NM_001407681.1:c.4232-5del
  • NM_001407682.1:c.4232-5del
  • NM_001407683.1:c.4232-5del
  • NM_001407684.1:c.4358-2del
  • NM_001407685.1:c.4229-2del
  • NM_001407686.1:c.4229-2del
  • NM_001407687.1:c.4229-2del
  • NM_001407688.1:c.4232-5del
  • NM_001407689.1:c.4232-5del
  • NM_001407690.1:c.4229-5del
  • NM_001407691.1:c.4229-5del
  • NM_001407692.1:c.4217-2del
  • NM_001407694.1:c.4217-2del
  • NM_001407695.1:c.4217-2del
  • NM_001407696.1:c.4217-2del
  • NM_001407697.1:c.4217-2del
  • NM_001407698.1:c.4217-2del
  • NM_001407724.1:c.4217-2del
  • NM_001407725.1:c.4217-2del
  • NM_001407726.1:c.4217-2del
  • NM_001407727.1:c.4217-2del
  • NM_001407728.1:c.4217-2del
  • NM_001407729.1:c.4217-2del
  • NM_001407730.1:c.4217-2del
  • NM_001407731.1:c.4217-2del
  • NM_001407732.1:c.4217-5del
  • NM_001407733.1:c.4217-5del
  • NM_001407734.1:c.4217-5del
  • NM_001407735.1:c.4217-5del
  • NM_001407736.1:c.4217-5del
  • NM_001407737.1:c.4217-5del
  • NM_001407738.1:c.4217-5del
  • NM_001407739.1:c.4217-5del
  • NM_001407740.1:c.4214-2del
  • NM_001407741.1:c.4214-2del
  • NM_001407742.1:c.4214-2del
  • NM_001407743.1:c.4214-2del
  • NM_001407744.1:c.4214-2del
  • NM_001407745.1:c.4214-2del
  • NM_001407746.1:c.4214-2del
  • NM_001407747.1:c.4214-2del
  • NM_001407748.1:c.4214-2del
  • NM_001407749.1:c.4214-2del
  • NM_001407750.1:c.4214-2del
  • NM_001407751.1:c.4214-2del
  • NM_001407752.1:c.4214-2del
  • NM_001407838.1:c.4214-5del
  • NM_001407839.1:c.4214-5del
  • NM_001407841.1:c.4214-5del
  • NM_001407842.1:c.4214-5del
  • NM_001407843.1:c.4214-5del
  • NM_001407844.1:c.4214-5del
  • NM_001407845.1:c.4214-5del
  • NM_001407846.1:c.4214-5del
  • NM_001407847.1:c.4211-2del
  • NM_001407848.1:c.4211-2del
  • NM_001407849.1:c.4211-2del
  • NM_001407850.1:c.4214-5del
  • NM_001407851.1:c.4214-5del
  • NM_001407852.1:c.4214-5del
  • NM_001407853.1:c.4211-2del
  • NM_001407854.1:c.4358-2del
  • NM_001407858.1:c.4358-5del
  • NM_001407859.1:c.4358-5del
  • NM_001407860.1:c.4355-2del
  • NM_001407861.1:c.4355-5del
  • NM_001407862.1:c.4157-2del
  • NM_001407863.1:c.4235-5del
  • NM_001407874.1:c.4154-5del
  • NM_001407875.1:c.4154-5del
  • NM_001407879.1:c.4148-2del
  • NM_001407881.1:c.4148-2del
  • NM_001407882.1:c.4148-2del
  • NM_001407884.1:c.4148-2del
  • NM_001407885.1:c.4148-2del
  • NM_001407886.1:c.4148-2del
  • NM_001407887.1:c.4148-2del
  • NM_001407889.1:c.4148-2del
  • NM_001407894.1:c.4145-2del
  • NM_001407895.1:c.4145-2del
  • NM_001407896.1:c.4145-2del
  • NM_001407897.1:c.4145-2del
  • NM_001407898.1:c.4145-2del
  • NM_001407899.1:c.4145-2del
  • NM_001407900.1:c.4148-5del
  • NM_001407902.1:c.4148-5del
  • NM_001407904.1:c.4148-5del
  • NM_001407906.1:c.4148-5del
  • NM_001407907.1:c.4145-2del
  • NM_001407908.1:c.4145-2del
  • NM_001407909.1:c.4145-2del
  • NM_001407910.1:c.4145-2del
  • NM_001407915.1:c.4142-2del
  • NM_001407916.1:c.4145-5del
  • NM_001407917.1:c.4145-5del
  • NM_001407918.1:c.4145-5del
  • NM_001407919.1:c.4235-2del
  • NM_001407920.1:c.4094-2del
  • NM_001407921.1:c.4094-2del
  • NM_001407922.1:c.4094-2del
  • NM_001407923.1:c.4094-2del
  • NM_001407924.1:c.4094-2del
  • NM_001407925.1:c.4094-2del
  • NM_001407926.1:c.4094-2del
  • NM_001407927.1:c.4094-5del
  • NM_001407928.1:c.4094-5del
  • NM_001407929.1:c.4094-5del
  • NM_001407930.1:c.4091-2del
  • NM_001407931.1:c.4091-2del
  • NM_001407932.1:c.4091-2del
  • NM_001407933.1:c.4091-2del
  • NM_001407934.1:c.4088-2del
  • NM_001407935.1:c.4091-5del
  • NM_001407936.1:c.4091-5del
  • NM_001407937.1:c.4235-2del
  • NM_001407938.1:c.4235-2del
  • NM_001407939.1:c.4235-5del
  • NM_001407940.1:c.4232-2del
  • NM_001407941.1:c.4232-5del
  • NM_001407942.1:c.4217-2del
  • NM_001407943.1:c.4214-2del
  • NM_001407944.1:c.4217-5del
  • NM_001407945.1:c.4217-5del
  • NM_001407946.1:c.4025-2del
  • NM_001407947.1:c.4025-2del
  • NM_001407948.1:c.4025-2del
  • NM_001407949.1:c.4025-2del
  • NM_001407950.1:c.4025-5del
  • NM_001407951.1:c.4025-5del
  • NM_001407952.1:c.4022-2del
  • NM_001407953.1:c.4022-2del
  • NM_001407954.1:c.4022-2del
  • NM_001407955.1:c.4022-2del
  • NM_001407956.1:c.4019-2del
  • NM_001407957.1:c.4022-5del
  • NM_001407958.1:c.4022-5del
  • NM_001407959.1:c.3977-2del
  • NM_001407960.1:c.3977-5del
  • NM_001407962.1:c.3974-2del
  • NM_001407963.1:c.3974-5del
  • NM_001407964.1:c.4214-5378del
  • NM_001407965.1:c.3851-2del
  • NM_001407966.1:c.3470-2del
  • NM_001407967.1:c.3470-5del
  • NM_001407968.1:c.1754-2del
  • NM_001407969.1:c.1751-2del
  • NM_001407970.1:c.1115-2del
  • NM_001407971.1:c.1115-2del
  • NM_001407972.1:c.1112-2del
  • NM_001407973.1:c.1049-2del
  • NM_001407974.1:c.1049-2del
  • NM_001407975.1:c.1049-2del
  • NM_001407976.1:c.1049-2del
  • NM_001407977.1:c.1049-2del
  • NM_001407978.1:c.1049-2del
  • NM_001407979.1:c.1046-2del
  • NM_001407980.1:c.1046-2del
  • NM_001407981.1:c.1046-2del
  • NM_001407982.1:c.1046-2del
  • NM_001407983.1:c.1046-2del
  • NM_001407984.1:c.1046-2del
  • NM_001407985.1:c.1046-2del
  • NM_001407986.1:c.1046-2del
  • NM_001407990.1:c.1046-2del
  • NM_001407991.1:c.1046-2del
  • NM_001407992.1:c.1046-2del
  • NM_001407993.1:c.1049-5del
  • NM_001408392.1:c.1046-5del
  • NM_001408396.1:c.1046-5del
  • NM_001408397.1:c.1046-5del
  • NM_001408398.1:c.1046-5del
  • NM_001408399.1:c.1046-5del
  • NM_001408400.1:c.1043-2del
  • NM_001408401.1:c.1043-2del
  • NM_001408402.1:c.1043-2del
  • NM_001408403.1:c.1046-5del
  • NM_001408404.1:c.1046-5del
  • NM_001408406.1:c.1040-2del
  • NM_001408407.1:c.1043-5del
  • NM_001408408.1:c.1040-2del
  • NM_001408409.1:c.1037-2del
  • NM_001408410.1:c.974-2del
  • NM_001408411.1:c.971-2del
  • NM_001408412.1:c.971-5del
  • NM_001408413.1:c.968-2del
  • NM_001408414.1:c.971-5del
  • NM_001408415.1:c.971-5del
  • NM_001408416.1:c.968-2del
  • NM_001408418.1:c.932-2del
  • NM_001408419.1:c.932-2del
  • NM_001408420.1:c.932-2del
  • NM_001408421.1:c.929-2del
  • NM_001408422.1:c.932-5del
  • NM_001408423.1:c.932-5del
  • NM_001408424.1:c.929-2del
  • NM_001408425.1:c.926-2del
  • NM_001408426.1:c.926-2del
  • NM_001408427.1:c.926-2del
  • NM_001408428.1:c.926-2del
  • NM_001408429.1:c.926-2del
  • NM_001408430.1:c.926-2del
  • NM_001408431.1:c.929-5del
  • NM_001408432.1:c.923-2del
  • NM_001408433.1:c.923-2del
  • NM_001408434.1:c.923-2del
  • NM_001408435.1:c.923-2del
  • NM_001408436.1:c.926-5del
  • NM_001408437.1:c.926-5del
  • NM_001408438.1:c.926-5del
  • NM_001408439.1:c.926-5del
  • NM_001408440.1:c.926-5del
  • NM_001408441.1:c.923-2del
  • NM_001408442.1:c.923-2del
  • NM_001408443.1:c.923-2del
  • NM_001408444.1:c.923-2del
  • NM_001408445.1:c.923-5del
  • NM_001408446.1:c.923-5del
  • NM_001408447.1:c.923-5del
  • NM_001408448.1:c.923-5del
  • NM_001408450.1:c.923-5del
  • NM_001408451.1:c.914-2del
  • NM_001408452.1:c.908-2del
  • NM_001408453.1:c.908-2del
  • NM_001408454.1:c.908-2del
  • NM_001408455.1:c.908-2del
  • NM_001408456.1:c.908-2del
  • NM_001408457.1:c.908-2del
  • NM_001408458.1:c.908-5del
  • NM_001408459.1:c.908-5del
  • NM_001408460.1:c.908-5del
  • NM_001408461.1:c.908-5del
  • NM_001408462.1:c.905-2del
  • NM_001408463.1:c.905-2del
  • NM_001408464.1:c.905-2del
  • NM_001408465.1:c.905-2del
  • NM_001408466.1:c.905-2del
  • NM_001408467.1:c.905-2del
  • NM_001408468.1:c.905-5del
  • NM_001408469.1:c.905-5del
  • NM_001408470.1:c.902-2del
  • NM_001408472.1:c.1046-2del
  • NM_001408473.1:c.1046-5del
  • NM_001408474.1:c.848-2del
  • NM_001408475.1:c.845-2del
  • NM_001408476.1:c.848-5del
  • NM_001408478.1:c.839-2del
  • NM_001408479.1:c.839-2del
  • NM_001408480.1:c.839-2del
  • NM_001408481.1:c.839-5del
  • NM_001408482.1:c.839-5del
  • NM_001408483.1:c.839-5del
  • NM_001408484.1:c.839-5del
  • NM_001408485.1:c.839-5del
  • NM_001408489.1:c.836-2del
  • NM_001408490.1:c.836-2del
  • NM_001408491.1:c.836-2del
  • NM_001408492.1:c.836-5del
  • NM_001408493.1:c.836-5del
  • NM_001408494.1:c.809-2del
  • NM_001408495.1:c.806-5del
  • NM_001408496.1:c.785-2del
  • NM_001408497.1:c.785-2del
  • NM_001408498.1:c.785-2del
  • NM_001408499.1:c.785-2del
  • NM_001408500.1:c.785-2del
  • NM_001408501.1:c.785-2del
  • NM_001408502.1:c.782-2del
  • NM_001408503.1:c.782-2del
  • NM_001408504.1:c.782-2del
  • NM_001408505.1:c.782-5del
  • NM_001408506.1:c.722-2del
  • NM_001408507.1:c.719-2del
  • NM_001408508.1:c.710-2del
  • NM_001408509.1:c.710-5del
  • NM_001408510.1:c.668-2del
  • NM_001408511.1:c.665-2del
  • NM_001408512.1:c.545-2del
  • NM_001408513.1:c.836-5378del
  • NM_001408514.1:c.838+5788del
  • NM_007294.4:c.4358-2delMANE SELECT
  • NM_007297.4:c.4217-2del
  • NM_007298.4:c.1049-5del
  • NM_007299.4:c.1049-5del
  • NM_007300.4:c.4424-5del
  • LRG_292t1:c.4358-2del
  • LRG_292:g.141368del
  • NC_000017.10:g.41228633del
  • NC_000017.10:g.41228635del
  • NM_007294.3:c.4358-2del
  • NM_007294.3:c.4358-2delA
  • NM_007294.4:c.4358-2delAMANE SELECT
Links:
dbSNP: rs1353755235
NCBI 1000 Genomes Browser:
rs1353755235
Molecular consequence:
  • NM_001407583.1:c.4424-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4424-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4421-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4421-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4352-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4352-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4346-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4280-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4280-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4277-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4277-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4277-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4235-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4235-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4235-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4235-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4232-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4232-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4232-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4232-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4232-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4229-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4229-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4214-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4358-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4355-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4235-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.4154-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.4154-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.4148-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.4148-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.4148-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.4148-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.4145-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.4145-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.4145-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.4094-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.4094-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.4094-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.4091-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.4091-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4235-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4232-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4217-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4025-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4025-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4022-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4022-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.3977-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.3974-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4214-5378del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3470-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1049-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1043-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.971-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.971-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.971-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.932-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.932-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.929-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.926-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.926-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.926-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.926-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.926-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.923-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.923-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.923-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.923-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.923-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.908-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.908-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.908-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.908-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.905-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.905-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1046-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.848-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.839-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.839-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.839-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.839-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.839-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.836-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.836-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.806-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.782-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.710-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.836-5378del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.838+5788del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1049-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1049-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4424-5del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407581.1:c.4424-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.4424-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407587.1:c.4421-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407610.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407611.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407612.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407613.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407614.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407615.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407627.1:c.4352-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407628.1:c.4352-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407629.1:c.4352-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407630.1:c.4352-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407631.1:c.4352-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407632.1:c.4352-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.4346-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.4301-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407649.1:c.4298-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.4280-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.4280-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.4280-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.4277-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407659.1:c.4274-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407660.1:c.4274-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407670.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407671.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407672.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407673.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407685.1:c.4229-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407686.1:c.4229-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407687.1:c.4229-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407740.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407741.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407742.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407743.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407744.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407745.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407746.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407747.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407748.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407749.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407847.1:c.4211-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407848.1:c.4211-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407849.1:c.4211-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407853.1:c.4211-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407860.1:c.4355-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.4157-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.4148-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407894.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407895.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407896.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407897.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407898.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407899.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.4145-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407915.1:c.4142-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.4094-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407930.1:c.4091-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407931.1:c.4091-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407932.1:c.4091-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.4091-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407934.1:c.4088-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.4235-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407940.1:c.4232-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407943.1:c.4214-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.4025-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.4025-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.4025-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.4025-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.4022-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.4022-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407954.1:c.4022-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407955.1:c.4022-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407956.1:c.4019-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.3977-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407962.1:c.3974-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.3851-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407966.1:c.3470-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.1754-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.1751-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.1115-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.1115-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407972.1:c.1112-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.1049-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.1049-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.1049-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.1049-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.1049-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.1049-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407984.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407985.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407986.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407991.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407992.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408400.1:c.1043-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408401.1:c.1043-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408402.1:c.1043-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.1040-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.1040-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.1037-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.974-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.971-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408413.1:c.968-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408416.1:c.968-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.932-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.932-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.932-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408421.1:c.929-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408424.1:c.929-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.926-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.926-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.926-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.926-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.926-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.926-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408432.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408433.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408434.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408435.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.923-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408451.1:c.914-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.908-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.908-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.908-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.908-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.908-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.908-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408462.1:c.905-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408463.1:c.905-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408464.1:c.905-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408465.1:c.905-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.905-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.905-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408470.1:c.902-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.1046-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.848-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408475.1:c.845-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.839-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.839-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.839-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.836-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408490.1:c.836-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408491.1:c.836-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.809-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.785-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.785-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.785-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.785-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.785-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.785-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.782-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408503.1:c.782-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408504.1:c.782-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.722-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.719-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408508.1:c.710-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.668-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408511.1:c.665-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.545-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.4358-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4217-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004026764Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 6, 2024) 		germlineclinical testing

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

SCV004122404Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 30, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004026764.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122404.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: BRCA1 c.4358-2delA is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250800 control chromosomes. To our knowledge, no occurrence of c.4358-2delA in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Feb 28, 2024