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NM_007294.4(BRCA1):c.4485-1G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 13, 2021
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:
RCV000580034.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.4485-1G>A]

NM_007294.4(BRCA1):c.4485-1G>A

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.4485-1G>A
Other names:
IVS14-1G>A
HGVS:
  • NC_000017.11:g.43074522C>T
  • NG_005905.2:g.143462G>A
  • NM_001407571.1:c.4272-1G>A
  • NM_001407581.1:c.4551-1G>A
  • NM_001407582.1:c.4551-1G>A
  • NM_001407583.1:c.4548-1G>A
  • NM_001407585.1:c.4548-1G>A
  • NM_001407587.1:c.4548-1G>A
  • NM_001407590.1:c.4545-1G>A
  • NM_001407591.1:c.4545-1G>A
  • NM_001407593.1:c.4485-1G>A
  • NM_001407594.1:c.4485-1G>A
  • NM_001407596.1:c.4485-1G>A
  • NM_001407597.1:c.4485-1G>A
  • NM_001407598.1:c.4485-1G>A
  • NM_001407602.1:c.4485-1G>A
  • NM_001407603.1:c.4485-1G>A
  • NM_001407605.1:c.4485-1G>A
  • NM_001407610.1:c.4482-1G>A
  • NM_001407611.1:c.4482-1G>A
  • NM_001407612.1:c.4482-1G>A
  • NM_001407613.1:c.4482-1G>A
  • NM_001407614.1:c.4482-1G>A
  • NM_001407615.1:c.4482-1G>A
  • NM_001407616.1:c.4482-1G>A
  • NM_001407617.1:c.4482-1G>A
  • NM_001407618.1:c.4482-1G>A
  • NM_001407619.1:c.4482-1G>A
  • NM_001407620.1:c.4482-1G>A
  • NM_001407621.1:c.4482-1G>A
  • NM_001407622.1:c.4482-1G>A
  • NM_001407623.1:c.4482-1G>A
  • NM_001407624.1:c.4482-1G>A
  • NM_001407625.1:c.4482-1G>A
  • NM_001407626.1:c.4482-1G>A
  • NM_001407627.1:c.4479-1G>A
  • NM_001407628.1:c.4479-1G>A
  • NM_001407629.1:c.4479-1G>A
  • NM_001407630.1:c.4479-1G>A
  • NM_001407631.1:c.4479-1G>A
  • NM_001407632.1:c.4479-1G>A
  • NM_001407633.1:c.4479-1G>A
  • NM_001407634.1:c.4479-1G>A
  • NM_001407635.1:c.4479-1G>A
  • NM_001407636.1:c.4479-1G>A
  • NM_001407637.1:c.4479-1G>A
  • NM_001407638.1:c.4479-1G>A
  • NM_001407639.1:c.4479-1G>A
  • NM_001407640.1:c.4479-1G>A
  • NM_001407641.1:c.4479-1G>A
  • NM_001407642.1:c.4479-1G>A
  • NM_001407644.1:c.4476-1G>A
  • NM_001407645.1:c.4476-1G>A
  • NM_001407646.1:c.4473-1G>A
  • NM_001407647.1:c.4470-1G>A
  • NM_001407648.1:c.4428-1G>A
  • NM_001407649.1:c.4425-1G>A
  • NM_001407652.1:c.4485-1G>A
  • NM_001407653.1:c.4407-1G>A
  • NM_001407654.1:c.4407-1G>A
  • NM_001407655.1:c.4407-1G>A
  • NM_001407656.1:c.4404-1G>A
  • NM_001407657.1:c.4404-1G>A
  • NM_001407658.1:c.4404-1G>A
  • NM_001407659.1:c.4401-1G>A
  • NM_001407660.1:c.4401-1G>A
  • NM_001407661.1:c.4401-1G>A
  • NM_001407662.1:c.4401-1G>A
  • NM_001407663.1:c.4401-1G>A
  • NM_001407664.1:c.4362-1G>A
  • NM_001407665.1:c.4362-1G>A
  • NM_001407666.1:c.4362-1G>A
  • NM_001407667.1:c.4362-1G>A
  • NM_001407668.1:c.4362-1G>A
  • NM_001407669.1:c.4362-1G>A
  • NM_001407670.1:c.4359-1G>A
  • NM_001407671.1:c.4359-1G>A
  • NM_001407672.1:c.4359-1G>A
  • NM_001407673.1:c.4359-1G>A
  • NM_001407674.1:c.4359-1G>A
  • NM_001407675.1:c.4359-1G>A
  • NM_001407676.1:c.4359-1G>A
  • NM_001407677.1:c.4359-1G>A
  • NM_001407678.1:c.4359-1G>A
  • NM_001407679.1:c.4359-1G>A
  • NM_001407680.1:c.4359-1G>A
  • NM_001407681.1:c.4356-1G>A
  • NM_001407682.1:c.4356-1G>A
  • NM_001407683.1:c.4356-1G>A
  • NM_001407684.1:c.4485-1G>A
  • NM_001407685.1:c.4356-1G>A
  • NM_001407686.1:c.4356-1G>A
  • NM_001407687.1:c.4356-1G>A
  • NM_001407688.1:c.4356-1G>A
  • NM_001407689.1:c.4356-1G>A
  • NM_001407690.1:c.4353-1G>A
  • NM_001407691.1:c.4353-1G>A
  • NM_001407692.1:c.4344-1G>A
  • NM_001407694.1:c.4344-1G>A
  • NM_001407695.1:c.4344-1G>A
  • NM_001407696.1:c.4344-1G>A
  • NM_001407697.1:c.4344-1G>A
  • NM_001407698.1:c.4344-1G>A
  • NM_001407724.1:c.4344-1G>A
  • NM_001407725.1:c.4344-1G>A
  • NM_001407726.1:c.4344-1G>A
  • NM_001407727.1:c.4344-1G>A
  • NM_001407728.1:c.4344-1G>A
  • NM_001407729.1:c.4344-1G>A
  • NM_001407730.1:c.4344-1G>A
  • NM_001407731.1:c.4344-1G>A
  • NM_001407732.1:c.4341-1G>A
  • NM_001407733.1:c.4341-1G>A
  • NM_001407734.1:c.4341-1G>A
  • NM_001407735.1:c.4341-1G>A
  • NM_001407736.1:c.4341-1G>A
  • NM_001407737.1:c.4341-1G>A
  • NM_001407738.1:c.4341-1G>A
  • NM_001407739.1:c.4341-1G>A
  • NM_001407740.1:c.4341-1G>A
  • NM_001407741.1:c.4341-1G>A
  • NM_001407742.1:c.4341-1G>A
  • NM_001407743.1:c.4341-1G>A
  • NM_001407744.1:c.4341-1G>A
  • NM_001407745.1:c.4341-1G>A
  • NM_001407746.1:c.4341-1G>A
  • NM_001407747.1:c.4341-1G>A
  • NM_001407748.1:c.4341-1G>A
  • NM_001407749.1:c.4341-1G>A
  • NM_001407750.1:c.4341-1G>A
  • NM_001407751.1:c.4341-1G>A
  • NM_001407752.1:c.4341-1G>A
  • NM_001407838.1:c.4338-1G>A
  • NM_001407839.1:c.4338-1G>A
  • NM_001407841.1:c.4338-1G>A
  • NM_001407842.1:c.4338-1G>A
  • NM_001407843.1:c.4338-1G>A
  • NM_001407844.1:c.4338-1G>A
  • NM_001407845.1:c.4338-1G>A
  • NM_001407846.1:c.4338-1G>A
  • NM_001407847.1:c.4338-1G>A
  • NM_001407848.1:c.4338-1G>A
  • NM_001407849.1:c.4338-1G>A
  • NM_001407850.1:c.4338-1G>A
  • NM_001407851.1:c.4338-1G>A
  • NM_001407852.1:c.4338-1G>A
  • NM_001407853.1:c.4338-1G>A
  • NM_001407854.1:c.4485-1G>A
  • NM_001407858.1:c.4482-1G>A
  • NM_001407859.1:c.4482-1G>A
  • NM_001407860.1:c.4482-1G>A
  • NM_001407861.1:c.4479-1G>A
  • NM_001407862.1:c.4284-1G>A
  • NM_001407863.1:c.4359-1G>A
  • NM_001407874.1:c.4278-1G>A
  • NM_001407875.1:c.4278-1G>A
  • NM_001407879.1:c.4275-1G>A
  • NM_001407881.1:c.4275-1G>A
  • NM_001407882.1:c.4275-1G>A
  • NM_001407884.1:c.4275-1G>A
  • NM_001407885.1:c.4275-1G>A
  • NM_001407886.1:c.4275-1G>A
  • NM_001407887.1:c.4275-1G>A
  • NM_001407889.1:c.4275-1G>A
  • NM_001407894.1:c.4272-1G>A
  • NM_001407895.1:c.4272-1G>A
  • NM_001407896.1:c.4272-1G>A
  • NM_001407897.1:c.4272-1G>A
  • NM_001407898.1:c.4272-1G>A
  • NM_001407899.1:c.4272-1G>A
  • NM_001407900.1:c.4272-1G>A
  • NM_001407902.1:c.4272-1G>A
  • NM_001407904.1:c.4272-1G>A
  • NM_001407906.1:c.4272-1G>A
  • NM_001407907.1:c.4272-1G>A
  • NM_001407908.1:c.4272-1G>A
  • NM_001407909.1:c.4272-1G>A
  • NM_001407910.1:c.4272-1G>A
  • NM_001407915.1:c.4269-1G>A
  • NM_001407916.1:c.4269-1G>A
  • NM_001407917.1:c.4269-1G>A
  • NM_001407918.1:c.4269-1G>A
  • NM_001407919.1:c.4362-1G>A
  • NM_001407920.1:c.4221-1G>A
  • NM_001407921.1:c.4221-1G>A
  • NM_001407922.1:c.4221-1G>A
  • NM_001407923.1:c.4221-1G>A
  • NM_001407924.1:c.4221-1G>A
  • NM_001407925.1:c.4221-1G>A
  • NM_001407926.1:c.4221-1G>A
  • NM_001407927.1:c.4218-1G>A
  • NM_001407928.1:c.4218-1G>A
  • NM_001407929.1:c.4218-1G>A
  • NM_001407930.1:c.4218-1G>A
  • NM_001407931.1:c.4218-1G>A
  • NM_001407932.1:c.4218-1G>A
  • NM_001407933.1:c.4218-1G>A
  • NM_001407934.1:c.4215-1G>A
  • NM_001407935.1:c.4215-1G>A
  • NM_001407936.1:c.4215-1G>A
  • NM_001407937.1:c.4362-1G>A
  • NM_001407938.1:c.4362-1G>A
  • NM_001407939.1:c.4359-1G>A
  • NM_001407940.1:c.4359-1G>A
  • NM_001407941.1:c.4356-1G>A
  • NM_001407942.1:c.4344-1G>A
  • NM_001407943.1:c.4341-1G>A
  • NM_001407944.1:c.4341-1G>A
  • NM_001407945.1:c.4341-1G>A
  • NM_001407946.1:c.4152-1G>A
  • NM_001407947.1:c.4152-1G>A
  • NM_001407948.1:c.4152-1G>A
  • NM_001407949.1:c.4152-1G>A
  • NM_001407950.1:c.4149-1G>A
  • NM_001407951.1:c.4149-1G>A
  • NM_001407952.1:c.4149-1G>A
  • NM_001407953.1:c.4149-1G>A
  • NM_001407954.1:c.4149-1G>A
  • NM_001407955.1:c.4149-1G>A
  • NM_001407956.1:c.4146-1G>A
  • NM_001407957.1:c.4146-1G>A
  • NM_001407958.1:c.4146-1G>A
  • NM_001407959.1:c.4104-1G>A
  • NM_001407960.1:c.4101-1G>A
  • NM_001407962.1:c.4101-1G>A
  • NM_001407963.1:c.4098-1G>A
  • NM_001407964.1:c.4214-3284G>A
  • NM_001407965.1:c.3978-1G>A
  • NM_001407966.1:c.3597-1G>A
  • NM_001407967.1:c.3594-1G>A
  • NM_001407968.1:c.1881-1G>A
  • NM_001407969.1:c.1878-1G>A
  • NM_001407970.1:c.1242-1G>A
  • NM_001407971.1:c.1242-1G>A
  • NM_001407972.1:c.1239-1G>A
  • NM_001407973.1:c.1176-1G>A
  • NM_001407974.1:c.1176-1G>A
  • NM_001407975.1:c.1176-1G>A
  • NM_001407976.1:c.1176-1G>A
  • NM_001407977.1:c.1176-1G>A
  • NM_001407978.1:c.1176-1G>A
  • NM_001407979.1:c.1173-1G>A
  • NM_001407980.1:c.1173-1G>A
  • NM_001407981.1:c.1173-1G>A
  • NM_001407982.1:c.1173-1G>A
  • NM_001407983.1:c.1173-1G>A
  • NM_001407984.1:c.1173-1G>A
  • NM_001407985.1:c.1173-1G>A
  • NM_001407986.1:c.1173-1G>A
  • NM_001407990.1:c.1173-1G>A
  • NM_001407991.1:c.1173-1G>A
  • NM_001407992.1:c.1173-1G>A
  • NM_001407993.1:c.1173-1G>A
  • NM_001408392.1:c.1170-1G>A
  • NM_001408396.1:c.1170-1G>A
  • NM_001408397.1:c.1170-1G>A
  • NM_001408398.1:c.1170-1G>A
  • NM_001408399.1:c.1170-1G>A
  • NM_001408400.1:c.1170-1G>A
  • NM_001408401.1:c.1170-1G>A
  • NM_001408402.1:c.1170-1G>A
  • NM_001408403.1:c.1170-1G>A
  • NM_001408404.1:c.1170-1G>A
  • NM_001408406.1:c.1167-1G>A
  • NM_001408407.1:c.1167-1G>A
  • NM_001408408.1:c.1167-1G>A
  • NM_001408409.1:c.1164-1G>A
  • NM_001408410.1:c.1101-1G>A
  • NM_001408411.1:c.1098-1G>A
  • NM_001408412.1:c.1095-1G>A
  • NM_001408413.1:c.1095-1G>A
  • NM_001408414.1:c.1095-1G>A
  • NM_001408415.1:c.1095-1G>A
  • NM_001408416.1:c.1095-1G>A
  • NM_001408418.1:c.1059-1G>A
  • NM_001408419.1:c.1059-1G>A
  • NM_001408420.1:c.1059-1G>A
  • NM_001408421.1:c.1056-1G>A
  • NM_001408422.1:c.1056-1G>A
  • NM_001408423.1:c.1056-1G>A
  • NM_001408424.1:c.1056-1G>A
  • NM_001408425.1:c.1053-1G>A
  • NM_001408426.1:c.1053-1G>A
  • NM_001408427.1:c.1053-1G>A
  • NM_001408428.1:c.1053-1G>A
  • NM_001408429.1:c.1053-1G>A
  • NM_001408430.1:c.1053-1G>A
  • NM_001408431.1:c.1053-1G>A
  • NM_001408432.1:c.1050-1G>A
  • NM_001408433.1:c.1050-1G>A
  • NM_001408434.1:c.1050-1G>A
  • NM_001408435.1:c.1050-1G>A
  • NM_001408436.1:c.1050-1G>A
  • NM_001408437.1:c.1050-1G>A
  • NM_001408438.1:c.1050-1G>A
  • NM_001408439.1:c.1050-1G>A
  • NM_001408440.1:c.1050-1G>A
  • NM_001408441.1:c.1050-1G>A
  • NM_001408442.1:c.1050-1G>A
  • NM_001408443.1:c.1050-1G>A
  • NM_001408444.1:c.1050-1G>A
  • NM_001408445.1:c.1047-1G>A
  • NM_001408446.1:c.1047-1G>A
  • NM_001408447.1:c.1047-1G>A
  • NM_001408448.1:c.1047-1G>A
  • NM_001408450.1:c.1047-1G>A
  • NM_001408451.1:c.1041-1G>A
  • NM_001408452.1:c.1035-1G>A
  • NM_001408453.1:c.1035-1G>A
  • NM_001408454.1:c.1035-1G>A
  • NM_001408455.1:c.1035-1G>A
  • NM_001408456.1:c.1035-1G>A
  • NM_001408457.1:c.1035-1G>A
  • NM_001408458.1:c.1032-1G>A
  • NM_001408459.1:c.1032-1G>A
  • NM_001408460.1:c.1032-1G>A
  • NM_001408461.1:c.1032-1G>A
  • NM_001408462.1:c.1032-1G>A
  • NM_001408463.1:c.1032-1G>A
  • NM_001408464.1:c.1032-1G>A
  • NM_001408465.1:c.1032-1G>A
  • NM_001408466.1:c.1032-1G>A
  • NM_001408467.1:c.1032-1G>A
  • NM_001408468.1:c.1029-1G>A
  • NM_001408469.1:c.1029-1G>A
  • NM_001408470.1:c.1029-1G>A
  • NM_001408472.1:c.1173-1G>A
  • NM_001408473.1:c.1170-1G>A
  • NM_001408474.1:c.975-1G>A
  • NM_001408475.1:c.972-1G>A
  • NM_001408476.1:c.972-1G>A
  • NM_001408478.1:c.966-1G>A
  • NM_001408479.1:c.966-1G>A
  • NM_001408480.1:c.966-1G>A
  • NM_001408481.1:c.963-1G>A
  • NM_001408482.1:c.963-1G>A
  • NM_001408483.1:c.963-1G>A
  • NM_001408484.1:c.963-1G>A
  • NM_001408485.1:c.963-1G>A
  • NM_001408489.1:c.963-1G>A
  • NM_001408490.1:c.963-1G>A
  • NM_001408491.1:c.963-1G>A
  • NM_001408492.1:c.960-1G>A
  • NM_001408493.1:c.960-1G>A
  • NM_001408494.1:c.936-1G>A
  • NM_001408495.1:c.930-1G>A
  • NM_001408496.1:c.912-1G>A
  • NM_001408497.1:c.912-1G>A
  • NM_001408498.1:c.912-1G>A
  • NM_001408499.1:c.912-1G>A
  • NM_001408500.1:c.912-1G>A
  • NM_001408501.1:c.912-1G>A
  • NM_001408502.1:c.909-1G>A
  • NM_001408503.1:c.909-1G>A
  • NM_001408504.1:c.909-1G>A
  • NM_001408505.1:c.906-1G>A
  • NM_001408506.1:c.849-1G>A
  • NM_001408507.1:c.846-1G>A
  • NM_001408508.1:c.837-1G>A
  • NM_001408509.1:c.834-1G>A
  • NM_001408510.1:c.795-1G>A
  • NM_001408511.1:c.792-1G>A
  • NM_001408512.1:c.672-1G>A
  • NM_001408513.1:c.836-3284G>A
  • NM_001408514.1:c.838+7882G>A
  • NM_007294.4:c.4485-1G>AMANE SELECT
  • NM_007297.4:c.4344-1G>A
  • NM_007298.4:c.1173-1G>A
  • NM_007299.4:c.1173-1G>A
  • NM_007300.4:c.4548-1G>A
  • LRG_292t1:c.4485-1G>A
  • LRG_292:g.143462G>A
  • NC_000017.10:g.41226539C>T
  • NM_007294.3:c.4485-1G>A
  • U14680.1:n.4604-1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 4604-1&base_change=G to A; dbSNP: rs80358189
NCBI 1000 Genomes Browser:
rs80358189
Molecular consequence:
  • NM_001407964.1:c.4214-3284G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.836-3284G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.838+7882G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407581.1:c.4551-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407582.1:c.4551-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407583.1:c.4548-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407585.1:c.4548-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407587.1:c.4548-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407590.1:c.4545-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407591.1:c.4545-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407593.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407594.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407596.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407597.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407598.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407602.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407603.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407605.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407610.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407611.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407612.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407613.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407614.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407615.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407616.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407617.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407618.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407619.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407620.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407621.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407622.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407623.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407624.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407625.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407626.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407627.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407628.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407629.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407630.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407631.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407632.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407633.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407634.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407635.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407636.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407637.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407638.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407639.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407640.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407641.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407642.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407644.1:c.4476-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407645.1:c.4476-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407646.1:c.4473-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407647.1:c.4470-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407648.1:c.4428-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407649.1:c.4425-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407652.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407653.1:c.4407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407654.1:c.4407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407655.1:c.4407-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407656.1:c.4404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407657.1:c.4404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407658.1:c.4404-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407659.1:c.4401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407660.1:c.4401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407661.1:c.4401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407662.1:c.4401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407663.1:c.4401-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407664.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407665.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407666.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407667.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407668.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407669.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407670.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407671.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407672.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407673.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407674.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407675.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407676.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407677.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407678.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407679.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407680.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407681.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407682.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407683.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407684.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407685.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407686.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407687.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407688.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407689.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407690.1:c.4353-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407691.1:c.4353-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407692.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407694.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407695.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407696.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407697.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407698.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407724.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407725.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407726.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407727.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407728.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407729.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407730.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407731.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407732.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407733.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407734.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407735.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407736.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407737.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407738.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407739.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407740.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407741.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407742.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407743.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407744.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407745.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407746.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407747.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407748.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407749.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407750.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407751.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407752.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407838.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407839.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407841.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407842.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407843.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407844.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407845.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407846.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407847.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407848.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407849.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407850.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407851.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407852.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407853.1:c.4338-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407854.1:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407858.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407859.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407860.1:c.4482-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407861.1:c.4479-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407862.1:c.4284-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407863.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407874.1:c.4278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407875.1:c.4278-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407879.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407881.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407882.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407884.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407885.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407886.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407887.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407889.1:c.4275-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407894.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407895.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407896.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407897.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407898.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407899.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407900.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407902.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407904.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407906.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407907.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407908.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407909.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407910.1:c.4272-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407915.1:c.4269-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407916.1:c.4269-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407917.1:c.4269-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407918.1:c.4269-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407919.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407920.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407921.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407922.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407923.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407924.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407925.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407926.1:c.4221-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407927.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407928.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407929.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407930.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407931.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407932.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407933.1:c.4218-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407934.1:c.4215-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407935.1:c.4215-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407936.1:c.4215-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407937.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407938.1:c.4362-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407939.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407940.1:c.4359-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407941.1:c.4356-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407942.1:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407943.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407944.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407945.1:c.4341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407946.1:c.4152-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407947.1:c.4152-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407948.1:c.4152-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407949.1:c.4152-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407950.1:c.4149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407951.1:c.4149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407952.1:c.4149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407953.1:c.4149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407954.1:c.4149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407955.1:c.4149-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407956.1:c.4146-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407957.1:c.4146-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407958.1:c.4146-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407959.1:c.4104-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407960.1:c.4101-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407962.1:c.4101-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407963.1:c.4098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407965.1:c.3978-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407966.1:c.3597-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407967.1:c.3594-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407968.1:c.1881-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407969.1:c.1878-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407970.1:c.1242-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407971.1:c.1242-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407972.1:c.1239-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407973.1:c.1176-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407974.1:c.1176-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407975.1:c.1176-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407976.1:c.1176-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407977.1:c.1176-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407978.1:c.1176-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407979.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407980.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407981.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407982.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407983.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407984.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407985.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407986.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407990.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407991.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407992.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407993.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408392.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408396.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408397.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408398.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408399.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408400.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408401.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408402.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408403.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408404.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408406.1:c.1167-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408407.1:c.1167-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408408.1:c.1167-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408409.1:c.1164-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408410.1:c.1101-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408411.1:c.1098-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408412.1:c.1095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408413.1:c.1095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408414.1:c.1095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408415.1:c.1095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408416.1:c.1095-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408418.1:c.1059-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408419.1:c.1059-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408420.1:c.1059-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408421.1:c.1056-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408422.1:c.1056-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408423.1:c.1056-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408424.1:c.1056-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408425.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408426.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408427.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408428.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408429.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408430.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408431.1:c.1053-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408432.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408433.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408434.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408435.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408436.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408437.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408438.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408439.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408440.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408441.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408442.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408443.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408444.1:c.1050-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408445.1:c.1047-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408446.1:c.1047-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408447.1:c.1047-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408448.1:c.1047-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408450.1:c.1047-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408451.1:c.1041-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408452.1:c.1035-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408453.1:c.1035-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408454.1:c.1035-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408455.1:c.1035-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408456.1:c.1035-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408457.1:c.1035-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408458.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408459.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408460.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408461.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408462.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408463.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408464.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408465.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408466.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408467.1:c.1032-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408468.1:c.1029-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408469.1:c.1029-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408470.1:c.1029-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408472.1:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408473.1:c.1170-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408474.1:c.975-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408475.1:c.972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408476.1:c.972-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408478.1:c.966-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408479.1:c.966-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408480.1:c.966-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408481.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408482.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408483.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408484.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408485.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408489.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408490.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408491.1:c.963-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408492.1:c.960-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408493.1:c.960-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408494.1:c.936-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408495.1:c.930-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408496.1:c.912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408497.1:c.912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408498.1:c.912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408499.1:c.912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408500.1:c.912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408501.1:c.912-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408502.1:c.909-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408503.1:c.909-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408504.1:c.909-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408505.1:c.906-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408506.1:c.849-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408507.1:c.846-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408508.1:c.837-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408509.1:c.834-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408510.1:c.795-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408511.1:c.792-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001408512.1:c.672-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007294.4:c.4485-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007297.4:c.4344-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007298.4:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007299.4:c.1173-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_007300.4:c.4548-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000683190Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 13, 2021) 		germlineclinical testing

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

SCV001184311Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 31, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA.

Am J Hum Genet. 2002 Sep;71(3):595-606. Epub 2002 Aug 13.

PubMed [citation]
PMID:
12181777
PMCID:
PMC379195
See all PubMed Citations (5)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000683190.4

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

Description

This variant causes a G to A nucleotide substitution at the -1 position of intron 13 splice acceptor site of the BRCA1 gene. A functional RNA study has shown that this variant results in the production of two different mutant transcripts: one due to the use of a cryptic acceptor site at c.4513 in exon 15, causing a deletion of 29 basepairs and premature protein truncation at codon 1496; and the other due to out-of-frame skipping of exon 14 (exon 15 according to BIC exon nomenclature), causing premature protein truncation at codon (PMID: 31843900). These transcripts are expected to result in a loss of BRCA1 function. This variant has been reported in multiple individuals affected with hereditary breast and/or ovarian cancer and is a recurrent mutation in the Pakistani individuals (PMID: 12181777, 27553291, 31843900). This variant has been identified in 3/251076 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

From Ambry Genetics, SCV001184311.4

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

Description

The c.4485-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 13 of the BRCA1 gene. This alteration has been reported in Pakistani families with breast and/or ovarian cancer (Liede A et al. Am. J. Hum. Genet., 2002 Sep;71:595-606; Rashid MU et al. BMC Cancer, 2016 08;16:673). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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

Last Updated: Nov 24, 2024