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NM_007294.4(BRCA1):c.4358-3A>G AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Oct 12, 2023
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:
RCV003117504.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.4358-3A>G]

NM_007294.4(BRCA1):c.4358-3A>G

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4358-3A>G
HGVS:
  • NC_000017.11:g.43076617T>C
  • NG_005905.2:g.141367A>G
  • NM_001407571.1:c.4145-3A>G
  • NM_001407581.1:c.4424-3A>G
  • NM_001407582.1:c.4424-3A>G
  • NM_001407583.1:c.4424-6A>G
  • NM_001407585.1:c.4424-6A>G
  • NM_001407587.1:c.4421-3A>G
  • NM_001407590.1:c.4421-6A>G
  • NM_001407591.1:c.4421-6A>G
  • NM_001407593.1:c.4358-3A>G
  • NM_001407594.1:c.4358-3A>G
  • NM_001407596.1:c.4358-3A>G
  • NM_001407597.1:c.4358-3A>G
  • NM_001407598.1:c.4358-3A>G
  • NM_001407602.1:c.4358-3A>G
  • NM_001407603.1:c.4358-3A>G
  • NM_001407605.1:c.4358-3A>G
  • NM_001407610.1:c.4355-3A>G
  • NM_001407611.1:c.4355-3A>G
  • NM_001407612.1:c.4355-3A>G
  • NM_001407613.1:c.4355-3A>G
  • NM_001407614.1:c.4355-3A>G
  • NM_001407615.1:c.4355-3A>G
  • NM_001407616.1:c.4358-6A>G
  • NM_001407617.1:c.4358-6A>G
  • NM_001407618.1:c.4358-6A>G
  • NM_001407619.1:c.4358-6A>G
  • NM_001407620.1:c.4358-6A>G
  • NM_001407621.1:c.4358-6A>G
  • NM_001407622.1:c.4358-6A>G
  • NM_001407623.1:c.4358-6A>G
  • NM_001407624.1:c.4355-3A>G
  • NM_001407625.1:c.4355-3A>G
  • NM_001407626.1:c.4355-3A>G
  • NM_001407627.1:c.4352-3A>G
  • NM_001407628.1:c.4352-3A>G
  • NM_001407629.1:c.4352-3A>G
  • NM_001407630.1:c.4352-3A>G
  • NM_001407631.1:c.4352-3A>G
  • NM_001407632.1:c.4352-3A>G
  • NM_001407633.1:c.4355-6A>G
  • NM_001407634.1:c.4355-6A>G
  • NM_001407635.1:c.4355-6A>G
  • NM_001407636.1:c.4355-6A>G
  • NM_001407637.1:c.4355-6A>G
  • NM_001407638.1:c.4355-6A>G
  • NM_001407639.1:c.4355-6A>G
  • NM_001407640.1:c.4355-6A>G
  • NM_001407641.1:c.4355-6A>G
  • NM_001407642.1:c.4355-6A>G
  • NM_001407644.1:c.4352-6A>G
  • NM_001407645.1:c.4352-6A>G
  • NM_001407646.1:c.4346-3A>G
  • NM_001407647.1:c.4346-6A>G
  • NM_001407648.1:c.4301-3A>G
  • NM_001407649.1:c.4298-3A>G
  • NM_001407652.1:c.4358-3A>G
  • NM_001407653.1:c.4280-3A>G
  • NM_001407654.1:c.4280-3A>G
  • NM_001407655.1:c.4280-3A>G
  • NM_001407656.1:c.4277-3A>G
  • NM_001407657.1:c.4280-6A>G
  • NM_001407658.1:c.4280-6A>G
  • NM_001407659.1:c.4274-3A>G
  • NM_001407660.1:c.4274-3A>G
  • NM_001407661.1:c.4277-6A>G
  • NM_001407662.1:c.4277-6A>G
  • NM_001407663.1:c.4277-6A>G
  • NM_001407664.1:c.4235-3A>G
  • NM_001407665.1:c.4235-3A>G
  • NM_001407666.1:c.4235-3A>G
  • NM_001407667.1:c.4235-3A>G
  • NM_001407668.1:c.4235-3A>G
  • NM_001407669.1:c.4235-3A>G
  • NM_001407670.1:c.4232-3A>G
  • NM_001407671.1:c.4232-3A>G
  • NM_001407672.1:c.4232-3A>G
  • NM_001407673.1:c.4232-3A>G
  • NM_001407674.1:c.4232-3A>G
  • NM_001407675.1:c.4232-3A>G
  • NM_001407676.1:c.4232-3A>G
  • NM_001407677.1:c.4235-6A>G
  • NM_001407678.1:c.4235-6A>G
  • NM_001407679.1:c.4235-6A>G
  • NM_001407680.1:c.4235-6A>G
  • NM_001407681.1:c.4232-6A>G
  • NM_001407682.1:c.4232-6A>G
  • NM_001407683.1:c.4232-6A>G
  • NM_001407684.1:c.4358-3A>G
  • NM_001407685.1:c.4229-3A>G
  • NM_001407686.1:c.4229-3A>G
  • NM_001407687.1:c.4229-3A>G
  • NM_001407688.1:c.4232-6A>G
  • NM_001407689.1:c.4232-6A>G
  • NM_001407690.1:c.4229-6A>G
  • NM_001407691.1:c.4229-6A>G
  • NM_001407692.1:c.4217-3A>G
  • NM_001407694.1:c.4217-3A>G
  • NM_001407695.1:c.4217-3A>G
  • NM_001407696.1:c.4217-3A>G
  • NM_001407697.1:c.4217-3A>G
  • NM_001407698.1:c.4217-3A>G
  • NM_001407724.1:c.4217-3A>G
  • NM_001407725.1:c.4217-3A>G
  • NM_001407726.1:c.4217-3A>G
  • NM_001407727.1:c.4217-3A>G
  • NM_001407728.1:c.4217-3A>G
  • NM_001407729.1:c.4217-3A>G
  • NM_001407730.1:c.4217-3A>G
  • NM_001407731.1:c.4217-3A>G
  • NM_001407732.1:c.4217-6A>G
  • NM_001407733.1:c.4217-6A>G
  • NM_001407734.1:c.4217-6A>G
  • NM_001407735.1:c.4217-6A>G
  • NM_001407736.1:c.4217-6A>G
  • NM_001407737.1:c.4217-6A>G
  • NM_001407738.1:c.4217-6A>G
  • NM_001407739.1:c.4217-6A>G
  • NM_001407740.1:c.4214-3A>G
  • NM_001407741.1:c.4214-3A>G
  • NM_001407742.1:c.4214-3A>G
  • NM_001407743.1:c.4214-3A>G
  • NM_001407744.1:c.4214-3A>G
  • NM_001407745.1:c.4214-3A>G
  • NM_001407746.1:c.4214-3A>G
  • NM_001407747.1:c.4214-3A>G
  • NM_001407748.1:c.4214-3A>G
  • NM_001407749.1:c.4214-3A>G
  • NM_001407750.1:c.4214-3A>G
  • NM_001407751.1:c.4214-3A>G
  • NM_001407752.1:c.4214-3A>G
  • NM_001407838.1:c.4214-6A>G
  • NM_001407839.1:c.4214-6A>G
  • NM_001407841.1:c.4214-6A>G
  • NM_001407842.1:c.4214-6A>G
  • NM_001407843.1:c.4214-6A>G
  • NM_001407844.1:c.4214-6A>G
  • NM_001407845.1:c.4214-6A>G
  • NM_001407846.1:c.4214-6A>G
  • NM_001407847.1:c.4211-3A>G
  • NM_001407848.1:c.4211-3A>G
  • NM_001407849.1:c.4211-3A>G
  • NM_001407850.1:c.4214-6A>G
  • NM_001407851.1:c.4214-6A>G
  • NM_001407852.1:c.4214-6A>G
  • NM_001407853.1:c.4211-3A>G
  • NM_001407854.1:c.4358-3A>G
  • NM_001407858.1:c.4358-6A>G
  • NM_001407859.1:c.4358-6A>G
  • NM_001407860.1:c.4355-3A>G
  • NM_001407861.1:c.4355-6A>G
  • NM_001407862.1:c.4157-3A>G
  • NM_001407863.1:c.4235-6A>G
  • NM_001407874.1:c.4154-6A>G
  • NM_001407875.1:c.4154-6A>G
  • NM_001407879.1:c.4148-3A>G
  • NM_001407881.1:c.4148-3A>G
  • NM_001407882.1:c.4148-3A>G
  • NM_001407884.1:c.4148-3A>G
  • NM_001407885.1:c.4148-3A>G
  • NM_001407886.1:c.4148-3A>G
  • NM_001407887.1:c.4148-3A>G
  • NM_001407889.1:c.4148-3A>G
  • NM_001407894.1:c.4145-3A>G
  • NM_001407895.1:c.4145-3A>G
  • NM_001407896.1:c.4145-3A>G
  • NM_001407897.1:c.4145-3A>G
  • NM_001407898.1:c.4145-3A>G
  • NM_001407899.1:c.4145-3A>G
  • NM_001407900.1:c.4148-6A>G
  • NM_001407902.1:c.4148-6A>G
  • NM_001407904.1:c.4148-6A>G
  • NM_001407906.1:c.4148-6A>G
  • NM_001407907.1:c.4145-3A>G
  • NM_001407908.1:c.4145-3A>G
  • NM_001407909.1:c.4145-3A>G
  • NM_001407910.1:c.4145-3A>G
  • NM_001407915.1:c.4142-3A>G
  • NM_001407916.1:c.4145-6A>G
  • NM_001407917.1:c.4145-6A>G
  • NM_001407918.1:c.4145-6A>G
  • NM_001407919.1:c.4235-3A>G
  • NM_001407920.1:c.4094-3A>G
  • NM_001407921.1:c.4094-3A>G
  • NM_001407922.1:c.4094-3A>G
  • NM_001407923.1:c.4094-3A>G
  • NM_001407924.1:c.4094-3A>G
  • NM_001407925.1:c.4094-3A>G
  • NM_001407926.1:c.4094-3A>G
  • NM_001407927.1:c.4094-6A>G
  • NM_001407928.1:c.4094-6A>G
  • NM_001407929.1:c.4094-6A>G
  • NM_001407930.1:c.4091-3A>G
  • NM_001407931.1:c.4091-3A>G
  • NM_001407932.1:c.4091-3A>G
  • NM_001407933.1:c.4091-3A>G
  • NM_001407934.1:c.4088-3A>G
  • NM_001407935.1:c.4091-6A>G
  • NM_001407936.1:c.4091-6A>G
  • NM_001407937.1:c.4235-3A>G
  • NM_001407938.1:c.4235-3A>G
  • NM_001407939.1:c.4235-6A>G
  • NM_001407940.1:c.4232-3A>G
  • NM_001407941.1:c.4232-6A>G
  • NM_001407942.1:c.4217-3A>G
  • NM_001407943.1:c.4214-3A>G
  • NM_001407944.1:c.4217-6A>G
  • NM_001407945.1:c.4217-6A>G
  • NM_001407946.1:c.4025-3A>G
  • NM_001407947.1:c.4025-3A>G
  • NM_001407948.1:c.4025-3A>G
  • NM_001407949.1:c.4025-3A>G
  • NM_001407950.1:c.4025-6A>G
  • NM_001407951.1:c.4025-6A>G
  • NM_001407952.1:c.4022-3A>G
  • NM_001407953.1:c.4022-3A>G
  • NM_001407954.1:c.4022-3A>G
  • NM_001407955.1:c.4022-3A>G
  • NM_001407956.1:c.4019-3A>G
  • NM_001407957.1:c.4022-6A>G
  • NM_001407958.1:c.4022-6A>G
  • NM_001407959.1:c.3977-3A>G
  • NM_001407960.1:c.3977-6A>G
  • NM_001407962.1:c.3974-3A>G
  • NM_001407963.1:c.3974-6A>G
  • NM_001407964.1:c.4214-5379A>G
  • NM_001407965.1:c.3851-3A>G
  • NM_001407966.1:c.3470-3A>G
  • NM_001407967.1:c.3470-6A>G
  • NM_001407968.1:c.1754-3A>G
  • NM_001407969.1:c.1751-3A>G
  • NM_001407970.1:c.1115-3A>G
  • NM_001407971.1:c.1115-3A>G
  • NM_001407972.1:c.1112-3A>G
  • NM_001407973.1:c.1049-3A>G
  • NM_001407974.1:c.1049-3A>G
  • NM_001407975.1:c.1049-3A>G
  • NM_001407976.1:c.1049-3A>G
  • NM_001407977.1:c.1049-3A>G
  • NM_001407978.1:c.1049-3A>G
  • NM_001407979.1:c.1046-3A>G
  • NM_001407980.1:c.1046-3A>G
  • NM_001407981.1:c.1046-3A>G
  • NM_001407982.1:c.1046-3A>G
  • NM_001407983.1:c.1046-3A>G
  • NM_001407984.1:c.1046-3A>G
  • NM_001407985.1:c.1046-3A>G
  • NM_001407986.1:c.1046-3A>G
  • NM_001407990.1:c.1046-3A>G
  • NM_001407991.1:c.1046-3A>G
  • NM_001407992.1:c.1046-3A>G
  • NM_001407993.1:c.1049-6A>G
  • NM_001408392.1:c.1046-6A>G
  • NM_001408396.1:c.1046-6A>G
  • NM_001408397.1:c.1046-6A>G
  • NM_001408398.1:c.1046-6A>G
  • NM_001408399.1:c.1046-6A>G
  • NM_001408400.1:c.1043-3A>G
  • NM_001408401.1:c.1043-3A>G
  • NM_001408402.1:c.1043-3A>G
  • NM_001408403.1:c.1046-6A>G
  • NM_001408404.1:c.1046-6A>G
  • NM_001408406.1:c.1040-3A>G
  • NM_001408407.1:c.1043-6A>G
  • NM_001408408.1:c.1040-3A>G
  • NM_001408409.1:c.1037-3A>G
  • NM_001408410.1:c.974-3A>G
  • NM_001408411.1:c.971-3A>G
  • NM_001408412.1:c.971-6A>G
  • NM_001408413.1:c.968-3A>G
  • NM_001408414.1:c.971-6A>G
  • NM_001408415.1:c.971-6A>G
  • NM_001408416.1:c.968-3A>G
  • NM_001408418.1:c.932-3A>G
  • NM_001408419.1:c.932-3A>G
  • NM_001408420.1:c.932-3A>G
  • NM_001408421.1:c.929-3A>G
  • NM_001408422.1:c.932-6A>G
  • NM_001408423.1:c.932-6A>G
  • NM_001408424.1:c.929-3A>G
  • NM_001408425.1:c.926-3A>G
  • NM_001408426.1:c.926-3A>G
  • NM_001408427.1:c.926-3A>G
  • NM_001408428.1:c.926-3A>G
  • NM_001408429.1:c.926-3A>G
  • NM_001408430.1:c.926-3A>G
  • NM_001408431.1:c.929-6A>G
  • NM_001408432.1:c.923-3A>G
  • NM_001408433.1:c.923-3A>G
  • NM_001408434.1:c.923-3A>G
  • NM_001408435.1:c.923-3A>G
  • NM_001408436.1:c.926-6A>G
  • NM_001408437.1:c.926-6A>G
  • NM_001408438.1:c.926-6A>G
  • NM_001408439.1:c.926-6A>G
  • NM_001408440.1:c.926-6A>G
  • NM_001408441.1:c.923-3A>G
  • NM_001408442.1:c.923-3A>G
  • NM_001408443.1:c.923-3A>G
  • NM_001408444.1:c.923-3A>G
  • NM_001408445.1:c.923-6A>G
  • NM_001408446.1:c.923-6A>G
  • NM_001408447.1:c.923-6A>G
  • NM_001408448.1:c.923-6A>G
  • NM_001408450.1:c.923-6A>G
  • NM_001408451.1:c.914-3A>G
  • NM_001408452.1:c.908-3A>G
  • NM_001408453.1:c.908-3A>G
  • NM_001408454.1:c.908-3A>G
  • NM_001408455.1:c.908-3A>G
  • NM_001408456.1:c.908-3A>G
  • NM_001408457.1:c.908-3A>G
  • NM_001408458.1:c.908-6A>G
  • NM_001408459.1:c.908-6A>G
  • NM_001408460.1:c.908-6A>G
  • NM_001408461.1:c.908-6A>G
  • NM_001408462.1:c.905-3A>G
  • NM_001408463.1:c.905-3A>G
  • NM_001408464.1:c.905-3A>G
  • NM_001408465.1:c.905-3A>G
  • NM_001408466.1:c.905-3A>G
  • NM_001408467.1:c.905-3A>G
  • NM_001408468.1:c.905-6A>G
  • NM_001408469.1:c.905-6A>G
  • NM_001408470.1:c.902-3A>G
  • NM_001408472.1:c.1046-3A>G
  • NM_001408473.1:c.1046-6A>G
  • NM_001408474.1:c.848-3A>G
  • NM_001408475.1:c.845-3A>G
  • NM_001408476.1:c.848-6A>G
  • NM_001408478.1:c.839-3A>G
  • NM_001408479.1:c.839-3A>G
  • NM_001408480.1:c.839-3A>G
  • NM_001408481.1:c.839-6A>G
  • NM_001408482.1:c.839-6A>G
  • NM_001408483.1:c.839-6A>G
  • NM_001408484.1:c.839-6A>G
  • NM_001408485.1:c.839-6A>G
  • NM_001408489.1:c.836-3A>G
  • NM_001408490.1:c.836-3A>G
  • NM_001408491.1:c.836-3A>G
  • NM_001408492.1:c.836-6A>G
  • NM_001408493.1:c.836-6A>G
  • NM_001408494.1:c.809-3A>G
  • NM_001408495.1:c.806-6A>G
  • NM_001408496.1:c.785-3A>G
  • NM_001408497.1:c.785-3A>G
  • NM_001408498.1:c.785-3A>G
  • NM_001408499.1:c.785-3A>G
  • NM_001408500.1:c.785-3A>G
  • NM_001408501.1:c.785-3A>G
  • NM_001408502.1:c.782-3A>G
  • NM_001408503.1:c.782-3A>G
  • NM_001408504.1:c.782-3A>G
  • NM_001408505.1:c.782-6A>G
  • NM_001408506.1:c.722-3A>G
  • NM_001408507.1:c.719-3A>G
  • NM_001408508.1:c.710-3A>G
  • NM_001408509.1:c.710-6A>G
  • NM_001408510.1:c.668-3A>G
  • NM_001408511.1:c.665-3A>G
  • NM_001408512.1:c.545-3A>G
  • NM_001408513.1:c.836-5379A>G
  • NM_001408514.1:c.838+5787A>G
  • NM_007294.4:c.4358-3A>GMANE SELECT
  • NM_007297.4:c.4217-3A>G
  • NM_007298.4:c.1049-6A>G
  • NM_007299.4:c.1049-6A>G
  • NM_007300.4:c.4424-6A>G
  • LRG_292t1:c.4358-3A>G
  • LRG_292:g.141367A>G
  • NC_000017.10:g.41228634T>C
  • NM_007294.3:c.4358-3A>G
Links:
dbSNP: rs1567779966
NCBI 1000 Genomes Browser:
rs1567779966
Molecular consequence:
  • NM_001407571.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.4424-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.4424-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.4424-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4424-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.4421-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4421-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4421-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4352-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4352-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4352-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4352-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4352-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4352-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4352-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4352-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4346-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4346-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4301-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4298-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4280-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4280-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4280-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4277-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4280-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4280-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4274-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4274-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4277-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4277-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4277-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4235-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4235-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4235-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4235-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4232-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4232-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4232-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4229-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4229-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4229-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4232-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4232-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4229-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4229-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4211-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4211-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4211-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4214-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.4211-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4358-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4355-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4355-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.4157-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4235-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.4154-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.4154-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.4148-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.4148-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.4148-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.4148-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.4148-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.4145-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.4142-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.4145-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.4145-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.4145-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.4094-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.4094-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.4094-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.4094-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.4091-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.4091-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.4091-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.4091-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.4088-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.4091-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.4091-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4235-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4235-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4232-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4232-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4214-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4217-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.4025-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.4025-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.4025-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.4025-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4025-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4025-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.4022-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.4022-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.4022-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.4022-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.4019-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4022-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4022-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.3977-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.3977-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.3974-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.3974-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4214-5379A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.3851-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.3470-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3470-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.1754-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.1751-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.1115-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.1115-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.1112-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.1049-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.1049-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.1049-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.1049-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.1049-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.1049-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1049-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.1043-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.1043-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.1043-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.1040-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1043-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.1040-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.1037-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.974-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.971-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.971-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.968-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.971-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.971-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.968-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.932-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.932-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.932-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.929-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.932-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.932-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.929-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.926-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.926-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.926-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.926-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.926-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.926-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.929-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.926-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.926-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.926-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.926-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.926-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.923-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.923-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.923-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.923-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.923-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.923-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.914-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.908-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.908-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.908-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.908-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.908-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.908-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.908-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.908-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.908-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.908-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.905-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.905-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.905-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.905-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.905-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.905-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.905-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.905-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.902-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.1046-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1046-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.848-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.845-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.848-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.839-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.839-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.839-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.839-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.839-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.839-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.839-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.839-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.836-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.836-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.836-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.836-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.836-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.809-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.806-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.785-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.785-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.785-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.785-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.785-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.785-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.782-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.782-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.782-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.782-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.722-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.719-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.710-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.710-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.668-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.665-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.545-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.836-5379A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.838+5787A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4358-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4217-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1049-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1049-6A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4424-6A>G - intron variant - [Sequence Ontology: SO:0001627]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003787107Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 13, 2022) 		germlineclinical testing

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

SCV004228257German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 12, 2023) 		germlinecuration

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

Help

Summary from all submissions

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

Citations

PubMed

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]
PMID:
17576681
PMCID:
PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]
PMID:
9536098
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003787107.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 584507). This variant has been observed in individual(s) with personal and/or family history of breast and ovarian cancer (PMID: 31159747). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein. It affects a nucleotide within the consensus splice site.

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

From German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne, SCV004228257.1

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

Description

PM2_sup, PP3_sup, RNA-Analysis required. According to the ACMG standard criteria we chose these criteria: PM2 (supporting pathogenic): Not in gnomAD, PP3 (supporting pathogenic): spliceAI score DG 0.97

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

Last Updated: Oct 8, 2024