NM_007294.4(BRCA1):c.4484+1del AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Jan 1, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000585723.17

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]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000693535	GeneKor MSA	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001574480	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Nov 26, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16199547, 20104584, 10952777, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000693535

GeneKor MSA

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2020)

germline

clinical testing

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

SCV001574480

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Nov 26, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]

PMID:: 16199547
PMCID:: PMC1735933

See all PubMed Citations (5)

Details of each submission

From GeneKor MSA, SCV000693535.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is a single base pair deletion in the first base of intron 13 of the BRCA1 gene. This position is conserved in the human and other genomes and might be involved in mRNA processing. Therefore, this variant is expected to disrupt RNA splicing and results in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This variant has been reported in the literature in Turkish breast/ovarian families (PMID: 10952777). The mutation database ClinVar contains entries for this variant (Variation ID: 55211).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001574480.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual with a personal and family history of breast and/or ovarian cancer (PMID: 10952777). This variant is also known as IVS-14+1delG in the literature. ClinVar contains an entry for this variant (Variation ID: 55211). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 13 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

#	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: Oct 26, 2024

ClinVar

Relating variation to medicine