NM_007294.4(BRCA1):c.4358-2del AND not specified
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 31, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003321788.5
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
This HGVS expression did not pass validation- 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
-
Homo sapiens chromosome 5 open reading frame 54, mRNA (cDNA clone MGC:44989 IMAG...
Homo sapiens chromosome 5 open reading frame 54, mRNA (cDNA clone MGC:44989 IMAGE:5535434), complete cdsgi|22749662|gb|BC032603.1|Nucleotide
-
ITLN1 [Saimiri boliviensis]
ITLN1 [Saimiri boliviensis]Gene ID:101042938Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004026764 | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jul 31, 2024) | germline | clinical testing | |
SCV004122404 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Uncertain significance (Oct 30, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV004026764.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122404.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Aug 4, 2024