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NM_007294.4(BRCA1):c.4484+1del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jun 18, 2019
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000258317.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.4484+1del]

NM_007294.4(BRCA1):c.4484+1del

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.4484+1del
HGVS:
  • NC_000017.11:g.43076488del
  • NG_005905.2:g.141497del
  • NM_001407571.1:c.4271+1del
  • NM_001407581.1:c.4550+1del
  • NM_001407582.1:c.4550+1del
  • NM_001407583.1:c.4547+1del
  • NM_001407585.1:c.4547+1del
  • NM_001407587.1:c.4547+1del
  • NM_001407590.1:c.4544+1del
  • NM_001407591.1:c.4544+1del
  • NM_001407593.1:c.4484+1del
  • NM_001407594.1:c.4484+1del
  • NM_001407596.1:c.4484+1del
  • NM_001407597.1:c.4484+1del
  • NM_001407598.1:c.4484+1del
  • NM_001407602.1:c.4484+1del
  • NM_001407603.1:c.4484+1del
  • NM_001407605.1:c.4484+1del
  • NM_001407610.1:c.4481+1del
  • NM_001407611.1:c.4481+1del
  • NM_001407612.1:c.4481+1del
  • NM_001407613.1:c.4481+1del
  • NM_001407614.1:c.4481+1del
  • NM_001407615.1:c.4481+1del
  • NM_001407616.1:c.4481+1del
  • NM_001407617.1:c.4481+1del
  • NM_001407618.1:c.4481+1del
  • NM_001407619.1:c.4481+1del
  • NM_001407620.1:c.4481+1del
  • NM_001407621.1:c.4481+1del
  • NM_001407622.1:c.4481+1del
  • NM_001407623.1:c.4481+1del
  • NM_001407624.1:c.4481+1del
  • NM_001407625.1:c.4481+1del
  • NM_001407626.1:c.4481+1del
  • NM_001407627.1:c.4478+1del
  • NM_001407628.1:c.4478+1del
  • NM_001407629.1:c.4478+1del
  • NM_001407630.1:c.4478+1del
  • NM_001407631.1:c.4478+1del
  • NM_001407632.1:c.4478+1del
  • NM_001407633.1:c.4478+1del
  • NM_001407634.1:c.4478+1del
  • NM_001407635.1:c.4478+1del
  • NM_001407636.1:c.4478+1del
  • NM_001407637.1:c.4478+1del
  • NM_001407638.1:c.4478+1del
  • NM_001407639.1:c.4478+1del
  • NM_001407640.1:c.4478+1del
  • NM_001407641.1:c.4478+1del
  • NM_001407642.1:c.4478+1del
  • NM_001407644.1:c.4475+1del
  • NM_001407645.1:c.4475+1del
  • NM_001407646.1:c.4472+1del
  • NM_001407647.1:c.4469+1del
  • NM_001407648.1:c.4427+1del
  • NM_001407649.1:c.4424+1del
  • NM_001407652.1:c.4484+1del
  • NM_001407653.1:c.4406+1del
  • NM_001407654.1:c.4406+1del
  • NM_001407655.1:c.4406+1del
  • NM_001407656.1:c.4403+1del
  • NM_001407657.1:c.4403+1del
  • NM_001407658.1:c.4403+1del
  • NM_001407659.1:c.4400+1del
  • NM_001407660.1:c.4400+1del
  • NM_001407661.1:c.4400+1del
  • NM_001407662.1:c.4400+1del
  • NM_001407663.1:c.4400+1del
  • NM_001407664.1:c.4361+1del
  • NM_001407665.1:c.4361+1del
  • NM_001407666.1:c.4361+1del
  • NM_001407667.1:c.4361+1del
  • NM_001407668.1:c.4361+1del
  • NM_001407669.1:c.4361+1del
  • NM_001407670.1:c.4358+1del
  • NM_001407671.1:c.4358+1del
  • NM_001407672.1:c.4358+1del
  • NM_001407673.1:c.4358+1del
  • NM_001407674.1:c.4358+1del
  • NM_001407675.1:c.4358+1del
  • NM_001407676.1:c.4358+1del
  • NM_001407677.1:c.4358+1del
  • NM_001407678.1:c.4358+1del
  • NM_001407679.1:c.4358+1del
  • NM_001407680.1:c.4358+1del
  • NM_001407681.1:c.4355+1del
  • NM_001407682.1:c.4355+1del
  • NM_001407683.1:c.4355+1del
  • NM_001407684.1:c.4484+1del
  • NM_001407685.1:c.4355+1del
  • NM_001407686.1:c.4355+1del
  • NM_001407687.1:c.4355+1del
  • NM_001407688.1:c.4355+1del
  • NM_001407689.1:c.4355+1del
  • NM_001407690.1:c.4352+1del
  • NM_001407691.1:c.4352+1del
  • NM_001407692.1:c.4343+1del
  • NM_001407694.1:c.4343+1del
  • NM_001407695.1:c.4343+1del
  • NM_001407696.1:c.4343+1del
  • NM_001407697.1:c.4343+1del
  • NM_001407698.1:c.4343+1del
  • NM_001407724.1:c.4343+1del
  • NM_001407725.1:c.4343+1del
  • NM_001407726.1:c.4343+1del
  • NM_001407727.1:c.4343+1del
  • NM_001407728.1:c.4343+1del
  • NM_001407729.1:c.4343+1del
  • NM_001407730.1:c.4343+1del
  • NM_001407731.1:c.4343+1del
  • NM_001407732.1:c.4340+1del
  • NM_001407733.1:c.4340+1del
  • NM_001407734.1:c.4340+1del
  • NM_001407735.1:c.4340+1del
  • NM_001407736.1:c.4340+1del
  • NM_001407737.1:c.4340+1del
  • NM_001407738.1:c.4340+1del
  • NM_001407739.1:c.4340+1del
  • NM_001407740.1:c.4340+1del
  • NM_001407741.1:c.4340+1del
  • NM_001407742.1:c.4340+1del
  • NM_001407743.1:c.4340+1del
  • NM_001407744.1:c.4340+1del
  • NM_001407745.1:c.4340+1del
  • NM_001407746.1:c.4340+1del
  • NM_001407747.1:c.4340+1del
  • NM_001407748.1:c.4340+1del
  • NM_001407749.1:c.4340+1del
  • NM_001407750.1:c.4340+1del
  • NM_001407751.1:c.4340+1del
  • NM_001407752.1:c.4340+1del
  • NM_001407838.1:c.4337+1del
  • NM_001407839.1:c.4337+1del
  • NM_001407841.1:c.4337+1del
  • NM_001407842.1:c.4337+1del
  • NM_001407843.1:c.4337+1del
  • NM_001407844.1:c.4337+1del
  • NM_001407845.1:c.4337+1del
  • NM_001407846.1:c.4337+1del
  • NM_001407847.1:c.4337+1del
  • NM_001407848.1:c.4337+1del
  • NM_001407849.1:c.4337+1del
  • NM_001407850.1:c.4337+1del
  • NM_001407851.1:c.4337+1del
  • NM_001407852.1:c.4337+1del
  • NM_001407853.1:c.4337+1del
  • NM_001407854.1:c.4484+1del
  • NM_001407858.1:c.4481+1del
  • NM_001407859.1:c.4481+1del
  • NM_001407860.1:c.4481+1del
  • NM_001407861.1:c.4478+1del
  • NM_001407862.1:c.4283+1del
  • NM_001407863.1:c.4358+1del
  • NM_001407874.1:c.4277+1del
  • NM_001407875.1:c.4277+1del
  • NM_001407879.1:c.4274+1del
  • NM_001407881.1:c.4274+1del
  • NM_001407882.1:c.4274+1del
  • NM_001407884.1:c.4274+1del
  • NM_001407885.1:c.4274+1del
  • NM_001407886.1:c.4274+1del
  • NM_001407887.1:c.4274+1del
  • NM_001407889.1:c.4274+1del
  • NM_001407894.1:c.4271+1del
  • NM_001407895.1:c.4271+1del
  • NM_001407896.1:c.4271+1del
  • NM_001407897.1:c.4271+1del
  • NM_001407898.1:c.4271+1del
  • NM_001407899.1:c.4271+1del
  • NM_001407900.1:c.4271+1del
  • NM_001407902.1:c.4271+1del
  • NM_001407904.1:c.4271+1del
  • NM_001407906.1:c.4271+1del
  • NM_001407907.1:c.4271+1del
  • NM_001407908.1:c.4271+1del
  • NM_001407909.1:c.4271+1del
  • NM_001407910.1:c.4271+1del
  • NM_001407915.1:c.4268+1del
  • NM_001407916.1:c.4268+1del
  • NM_001407917.1:c.4268+1del
  • NM_001407918.1:c.4268+1del
  • NM_001407919.1:c.4361+1del
  • NM_001407920.1:c.4220+1del
  • NM_001407921.1:c.4220+1del
  • NM_001407922.1:c.4220+1del
  • NM_001407923.1:c.4220+1del
  • NM_001407924.1:c.4220+1del
  • NM_001407925.1:c.4220+1del
  • NM_001407926.1:c.4220+1del
  • NM_001407927.1:c.4217+1del
  • NM_001407928.1:c.4217+1del
  • NM_001407929.1:c.4217+1del
  • NM_001407930.1:c.4217+1del
  • NM_001407931.1:c.4217+1del
  • NM_001407932.1:c.4217+1del
  • NM_001407933.1:c.4217+1del
  • NM_001407934.1:c.4214+1del
  • NM_001407935.1:c.4214+1del
  • NM_001407936.1:c.4214+1del
  • NM_001407937.1:c.4361+1del
  • NM_001407938.1:c.4361+1del
  • NM_001407939.1:c.4358+1del
  • NM_001407940.1:c.4358+1del
  • NM_001407941.1:c.4355+1del
  • NM_001407942.1:c.4343+1del
  • NM_001407943.1:c.4340+1del
  • NM_001407944.1:c.4340+1del
  • NM_001407945.1:c.4340+1del
  • NM_001407946.1:c.4151+1del
  • NM_001407947.1:c.4151+1del
  • NM_001407948.1:c.4151+1del
  • NM_001407949.1:c.4151+1del
  • NM_001407950.1:c.4148+1del
  • NM_001407951.1:c.4148+1del
  • NM_001407952.1:c.4148+1del
  • NM_001407953.1:c.4148+1del
  • NM_001407954.1:c.4148+1del
  • NM_001407955.1:c.4148+1del
  • NM_001407956.1:c.4145+1del
  • NM_001407957.1:c.4145+1del
  • NM_001407958.1:c.4145+1del
  • NM_001407959.1:c.4103+1del
  • NM_001407960.1:c.4100+1del
  • NM_001407962.1:c.4100+1del
  • NM_001407963.1:c.4097+1del
  • NM_001407964.1:c.4214-5249del
  • NM_001407965.1:c.3977+1del
  • NM_001407966.1:c.3596+1del
  • NM_001407967.1:c.3593+1del
  • NM_001407968.1:c.1880+1del
  • NM_001407969.1:c.1877+1del
  • NM_001407970.1:c.1241+1del
  • NM_001407971.1:c.1241+1del
  • NM_001407972.1:c.1238+1del
  • NM_001407973.1:c.1175+1del
  • NM_001407974.1:c.1175+1del
  • NM_001407975.1:c.1175+1del
  • NM_001407976.1:c.1175+1del
  • NM_001407977.1:c.1175+1del
  • NM_001407978.1:c.1175+1del
  • NM_001407979.1:c.1172+1del
  • NM_001407980.1:c.1172+1del
  • NM_001407981.1:c.1172+1del
  • NM_001407982.1:c.1172+1del
  • NM_001407983.1:c.1172+1del
  • NM_001407984.1:c.1172+1del
  • NM_001407985.1:c.1172+1del
  • NM_001407986.1:c.1172+1del
  • NM_001407990.1:c.1172+1del
  • NM_001407991.1:c.1172+1del
  • NM_001407992.1:c.1172+1del
  • NM_001407993.1:c.1172+1del
  • NM_001408392.1:c.1169+1del
  • NM_001408396.1:c.1169+1del
  • NM_001408397.1:c.1169+1del
  • NM_001408398.1:c.1169+1del
  • NM_001408399.1:c.1169+1del
  • NM_001408400.1:c.1169+1del
  • NM_001408401.1:c.1169+1del
  • NM_001408402.1:c.1169+1del
  • NM_001408403.1:c.1169+1del
  • NM_001408404.1:c.1169+1del
  • NM_001408406.1:c.1166+1del
  • NM_001408407.1:c.1166+1del
  • NM_001408408.1:c.1166+1del
  • NM_001408409.1:c.1163+1del
  • NM_001408410.1:c.1100+1del
  • NM_001408411.1:c.1097+1del
  • NM_001408412.1:c.1094+1del
  • NM_001408413.1:c.1094+1del
  • NM_001408414.1:c.1094+1del
  • NM_001408415.1:c.1094+1del
  • NM_001408416.1:c.1094+1del
  • NM_001408418.1:c.1058+1del
  • NM_001408419.1:c.1058+1del
  • NM_001408420.1:c.1058+1del
  • NM_001408421.1:c.1055+1del
  • NM_001408422.1:c.1055+1del
  • NM_001408423.1:c.1055+1del
  • NM_001408424.1:c.1055+1del
  • NM_001408425.1:c.1052+1del
  • NM_001408426.1:c.1052+1del
  • NM_001408427.1:c.1052+1del
  • NM_001408428.1:c.1052+1del
  • NM_001408429.1:c.1052+1del
  • NM_001408430.1:c.1052+1del
  • NM_001408431.1:c.1052+1del
  • NM_001408432.1:c.1049+1del
  • NM_001408433.1:c.1049+1del
  • NM_001408434.1:c.1049+1del
  • NM_001408435.1:c.1049+1del
  • NM_001408436.1:c.1049+1del
  • NM_001408437.1:c.1049+1del
  • NM_001408438.1:c.1049+1del
  • NM_001408439.1:c.1049+1del
  • NM_001408440.1:c.1049+1del
  • NM_001408441.1:c.1049+1del
  • NM_001408442.1:c.1049+1del
  • NM_001408443.1:c.1049+1del
  • NM_001408444.1:c.1049+1del
  • NM_001408445.1:c.1046+1del
  • NM_001408446.1:c.1046+1del
  • NM_001408447.1:c.1046+1del
  • NM_001408448.1:c.1046+1del
  • NM_001408450.1:c.1046+1del
  • NM_001408451.1:c.1040+1del
  • NM_001408452.1:c.1034+1del
  • NM_001408453.1:c.1034+1del
  • NM_001408454.1:c.1034+1del
  • NM_001408455.1:c.1034+1del
  • NM_001408456.1:c.1034+1del
  • NM_001408457.1:c.1034+1del
  • NM_001408458.1:c.1031+1del
  • NM_001408459.1:c.1031+1del
  • NM_001408460.1:c.1031+1del
  • NM_001408461.1:c.1031+1del
  • NM_001408462.1:c.1031+1del
  • NM_001408463.1:c.1031+1del
  • NM_001408464.1:c.1031+1del
  • NM_001408465.1:c.1031+1del
  • NM_001408466.1:c.1031+1del
  • NM_001408467.1:c.1031+1del
  • NM_001408468.1:c.1028+1del
  • NM_001408469.1:c.1028+1del
  • NM_001408470.1:c.1028+1del
  • NM_001408472.1:c.1172+1del
  • NM_001408473.1:c.1169+1del
  • NM_001408474.1:c.974+1del
  • NM_001408475.1:c.971+1del
  • NM_001408476.1:c.971+1del
  • NM_001408478.1:c.965+1del
  • NM_001408479.1:c.965+1del
  • NM_001408480.1:c.965+1del
  • NM_001408481.1:c.962+1del
  • NM_001408482.1:c.962+1del
  • NM_001408483.1:c.962+1del
  • NM_001408484.1:c.962+1del
  • NM_001408485.1:c.962+1del
  • NM_001408489.1:c.962+1del
  • NM_001408490.1:c.962+1del
  • NM_001408491.1:c.962+1del
  • NM_001408492.1:c.959+1del
  • NM_001408493.1:c.959+1del
  • NM_001408494.1:c.935+1del
  • NM_001408495.1:c.929+1del
  • NM_001408496.1:c.911+1del
  • NM_001408497.1:c.911+1del
  • NM_001408498.1:c.911+1del
  • NM_001408499.1:c.911+1del
  • NM_001408500.1:c.911+1del
  • NM_001408501.1:c.911+1del
  • NM_001408502.1:c.908+1del
  • NM_001408503.1:c.908+1del
  • NM_001408504.1:c.908+1del
  • NM_001408505.1:c.905+1del
  • NM_001408506.1:c.848+1del
  • NM_001408507.1:c.845+1del
  • NM_001408508.1:c.836+1del
  • NM_001408509.1:c.833+1del
  • NM_001408510.1:c.794+1del
  • NM_001408511.1:c.791+1del
  • NM_001408512.1:c.671+1del
  • NM_001408513.1:c.836-5249del
  • NM_001408514.1:c.838+5917del
  • NM_007294.4:c.4484+1delMANE SELECT
  • NM_007297.4:c.4343+1del
  • NM_007298.4:c.1172+1del
  • NM_007299.4:c.1172+1del
  • NM_007300.4:c.4547+1del
  • LRG_292t1:c.4484+1del
  • LRG_292:g.141497del
  • NC_000017.10:g.41228504del
  • NC_000017.10:g.41228505del
  • NM_007294.3:c.4484+1del
  • NM_007294.3:c.4484+1delG
Links:
dbSNP: rs397509181
NCBI 1000 Genomes Browser:
rs397509181
Molecular consequence:
  • NM_001407964.1:c.4214-5249del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.836-5249del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.838+5917del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.4550+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.4550+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.4547+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.4547+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.4547+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.4544+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.4544+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.4475+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.4475+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.4472+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.4469+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.4427+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.4424+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.4406+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.4406+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.4406+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.4403+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.4403+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.4403+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.4400+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.4400+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.4400+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.4400+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.4400+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.4352+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.4352+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.4337+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.4481+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.4478+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.4283+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.4277+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.4277+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.4274+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.4271+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.4268+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.4268+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.4268+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.4268+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.4220+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.4217+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.4214+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.4214+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.4214+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.4361+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.4358+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.4355+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.4340+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.4151+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.4151+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.4151+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.4151+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.4148+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.4148+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.4148+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.4148+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.4148+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.4148+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.4145+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.4145+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.4145+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.4103+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.4100+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.4100+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.4097+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.3977+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.3596+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.3593+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.1880+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.1877+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.1241+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.1241+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.1238+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.1175+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.1175+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.1175+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.1175+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.1175+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.1175+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.1166+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.1166+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.1166+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.1163+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.1100+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.1097+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.1094+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.1094+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.1094+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.1094+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.1094+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.1058+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.1058+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.1058+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.1055+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.1055+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.1055+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.1055+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.1052+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.1049+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.1046+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.1046+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.1046+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.1046+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.1046+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408451.1:c.1040+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.1034+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.1034+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408454.1:c.1034+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.1034+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.1034+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408457.1:c.1034+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408459.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408460.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408461.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408464.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408467.1:c.1031+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.1028+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.1028+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.1028+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.1169+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.974+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.971+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.971+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.965+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.965+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.965+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.962+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.959+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.959+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.935+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.929+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408496.1:c.911+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.911+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408498.1:c.911+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.911+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.911+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.911+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.908+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.908+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.908+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.905+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.848+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.845+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.836+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.833+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.794+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408511.1:c.791+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.671+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.4484+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.4343+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1172+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.4547+1del - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000325973Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
criteria provided, single submitter

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

CIMBA_Mutation_Classification_guidelines_May16.pdf,

Citation Link,

SCV001161637Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Pathogenic
(Jun 18, 2019) 		germlinecuration

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

Citation Link,

SCV002761620Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 31, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing, curation

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325973.4

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161637.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.996657

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

From Genetics and Molecular Pathology, SA Pathology, SCV002761620.1

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

Description

The BRCA1 c.4484+1delG variant is classified as Pathogenic (PVS1, PM2, PP5) The BRCA1 c.4484+1delG variant is located in a splice donor region. Computational predictions support a deleterious effect on splicing and a likely disruption of the protein reading frame and non-sense mediated decay of the resulting protein product (PVS1).This variant is absent from population databases (PM2). not in population databases ENIGMA/Parsons 2019 co-segregation in ICON data from 1 family The variant has been reported in dbSNP (rs397509181) and in the HGMD database: CD004791. It has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 55211). Multifactorial analysis by ENIGMA consortium confirms this variant as pathogenic

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

Last Updated: Oct 26, 2024