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NM_007294.4(BRCA1):c.5074+1G>A AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353952.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.5074+1G>A]

NM_007294.4(BRCA1):c.5074+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.5074+1G>A
HGVS:
  • NC_000017.11:g.43067607C>T
  • NG_005905.2:g.150377G>A
  • NM_001407571.1:c.4861+1G>A
  • NM_001407581.1:c.5140+1G>A
  • NM_001407582.1:c.5140+1G>A
  • NM_001407583.1:c.5137+1G>A
  • NM_001407585.1:c.5137+1G>A
  • NM_001407587.1:c.5137+1G>A
  • NM_001407590.1:c.5134+1G>A
  • NM_001407591.1:c.5134+1G>A
  • NM_001407593.1:c.5074+1G>A
  • NM_001407594.1:c.5074+1G>A
  • NM_001407596.1:c.5074+1G>A
  • NM_001407597.1:c.5074+1G>A
  • NM_001407598.1:c.5074+1G>A
  • NM_001407602.1:c.5074+1G>A
  • NM_001407603.1:c.5074+1G>A
  • NM_001407605.1:c.5074+1G>A
  • NM_001407610.1:c.5071+1G>A
  • NM_001407611.1:c.5071+1G>A
  • NM_001407612.1:c.5071+1G>A
  • NM_001407613.1:c.5071+1G>A
  • NM_001407614.1:c.5071+1G>A
  • NM_001407615.1:c.5071+1G>A
  • NM_001407616.1:c.5071+1G>A
  • NM_001407617.1:c.5071+1G>A
  • NM_001407618.1:c.5071+1G>A
  • NM_001407619.1:c.5071+1G>A
  • NM_001407620.1:c.5071+1G>A
  • NM_001407621.1:c.5071+1G>A
  • NM_001407622.1:c.5071+1G>A
  • NM_001407623.1:c.5071+1G>A
  • NM_001407624.1:c.5071+1G>A
  • NM_001407625.1:c.5071+1G>A
  • NM_001407626.1:c.5071+1G>A
  • NM_001407627.1:c.5068+1G>A
  • NM_001407628.1:c.5068+1G>A
  • NM_001407629.1:c.5068+1G>A
  • NM_001407630.1:c.5068+1G>A
  • NM_001407631.1:c.5068+1G>A
  • NM_001407632.1:c.5068+1G>A
  • NM_001407633.1:c.5068+1G>A
  • NM_001407634.1:c.5068+1G>A
  • NM_001407635.1:c.5068+1G>A
  • NM_001407636.1:c.5068+1G>A
  • NM_001407637.1:c.5068+1G>A
  • NM_001407638.1:c.5068+1G>A
  • NM_001407639.1:c.5068+1G>A
  • NM_001407640.1:c.5068+1G>A
  • NM_001407641.1:c.5068+1G>A
  • NM_001407642.1:c.5068+1G>A
  • NM_001407644.1:c.5065+1G>A
  • NM_001407645.1:c.5065+1G>A
  • NM_001407646.1:c.5062+1G>A
  • NM_001407647.1:c.5059+1G>A
  • NM_001407648.1:c.5017+1G>A
  • NM_001407649.1:c.5014+1G>A
  • NM_001407652.1:c.5074+1G>A
  • NM_001407653.1:c.4996+1G>A
  • NM_001407654.1:c.4996+1G>A
  • NM_001407655.1:c.4996+1G>A
  • NM_001407656.1:c.4993+1G>A
  • NM_001407657.1:c.4993+1G>A
  • NM_001407658.1:c.4993+1G>A
  • NM_001407659.1:c.4990+1G>A
  • NM_001407660.1:c.4990+1G>A
  • NM_001407661.1:c.4990+1G>A
  • NM_001407662.1:c.4990+1G>A
  • NM_001407663.1:c.4990+1G>A
  • NM_001407664.1:c.4951+1G>A
  • NM_001407665.1:c.4951+1G>A
  • NM_001407666.1:c.4951+1G>A
  • NM_001407667.1:c.4951+1G>A
  • NM_001407668.1:c.4951+1G>A
  • NM_001407669.1:c.4951+1G>A
  • NM_001407670.1:c.4948+1G>A
  • NM_001407671.1:c.4948+1G>A
  • NM_001407672.1:c.4948+1G>A
  • NM_001407673.1:c.4948+1G>A
  • NM_001407674.1:c.4948+1G>A
  • NM_001407675.1:c.4948+1G>A
  • NM_001407676.1:c.4948+1G>A
  • NM_001407677.1:c.4948+1G>A
  • NM_001407678.1:c.4948+1G>A
  • NM_001407679.1:c.4948+1G>A
  • NM_001407680.1:c.4948+1G>A
  • NM_001407681.1:c.4945+1G>A
  • NM_001407682.1:c.4945+1G>A
  • NM_001407683.1:c.4945+1G>A
  • NM_001407684.1:c.5074+1G>A
  • NM_001407685.1:c.4945+1G>A
  • NM_001407686.1:c.4945+1G>A
  • NM_001407687.1:c.4945+1G>A
  • NM_001407688.1:c.4945+1G>A
  • NM_001407689.1:c.4945+1G>A
  • NM_001407690.1:c.4942+1G>A
  • NM_001407691.1:c.4942+1G>A
  • NM_001407692.1:c.4933+1G>A
  • NM_001407694.1:c.4933+1G>A
  • NM_001407695.1:c.4933+1G>A
  • NM_001407696.1:c.4933+1G>A
  • NM_001407697.1:c.4933+1G>A
  • NM_001407698.1:c.4933+1G>A
  • NM_001407724.1:c.4933+1G>A
  • NM_001407725.1:c.4933+1G>A
  • NM_001407726.1:c.4933+1G>A
  • NM_001407727.1:c.4933+1G>A
  • NM_001407728.1:c.4933+1G>A
  • NM_001407729.1:c.4933+1G>A
  • NM_001407730.1:c.4933+1G>A
  • NM_001407731.1:c.4933+1G>A
  • NM_001407732.1:c.4930+1G>A
  • NM_001407733.1:c.4930+1G>A
  • NM_001407734.1:c.4930+1G>A
  • NM_001407735.1:c.4930+1G>A
  • NM_001407736.1:c.4930+1G>A
  • NM_001407737.1:c.4930+1G>A
  • NM_001407738.1:c.4930+1G>A
  • NM_001407739.1:c.4930+1G>A
  • NM_001407740.1:c.4930+1G>A
  • NM_001407741.1:c.4930+1G>A
  • NM_001407742.1:c.4930+1G>A
  • NM_001407743.1:c.4930+1G>A
  • NM_001407744.1:c.4930+1G>A
  • NM_001407745.1:c.4930+1G>A
  • NM_001407746.1:c.4930+1G>A
  • NM_001407747.1:c.4930+1G>A
  • NM_001407748.1:c.4930+1G>A
  • NM_001407749.1:c.4930+1G>A
  • NM_001407750.1:c.4930+1G>A
  • NM_001407751.1:c.4930+1G>A
  • NM_001407752.1:c.4930+1G>A
  • NM_001407838.1:c.4927+1G>A
  • NM_001407839.1:c.4927+1G>A
  • NM_001407841.1:c.4927+1G>A
  • NM_001407842.1:c.4927+1G>A
  • NM_001407843.1:c.4927+1G>A
  • NM_001407844.1:c.4927+1G>A
  • NM_001407845.1:c.4927+1G>A
  • NM_001407846.1:c.4927+1G>A
  • NM_001407847.1:c.4927+1G>A
  • NM_001407848.1:c.4927+1G>A
  • NM_001407849.1:c.4927+1G>A
  • NM_001407850.1:c.4927+1G>A
  • NM_001407851.1:c.4927+1G>A
  • NM_001407852.1:c.4927+1G>A
  • NM_001407853.1:c.4927+1G>A
  • NM_001407854.1:c.5074+1G>A
  • NM_001407858.1:c.5071+1G>A
  • NM_001407859.1:c.5071+1G>A
  • NM_001407860.1:c.5071+1G>A
  • NM_001407861.1:c.5068+1G>A
  • NM_001407862.1:c.4873+1G>A
  • NM_001407863.1:c.4948+1G>A
  • NM_001407874.1:c.4867+1G>A
  • NM_001407875.1:c.4867+1G>A
  • NM_001407879.1:c.4864+1G>A
  • NM_001407881.1:c.4864+1G>A
  • NM_001407882.1:c.4864+1G>A
  • NM_001407884.1:c.4864+1G>A
  • NM_001407885.1:c.4864+1G>A
  • NM_001407886.1:c.4864+1G>A
  • NM_001407887.1:c.4864+1G>A
  • NM_001407889.1:c.4864+1G>A
  • NM_001407894.1:c.4861+1G>A
  • NM_001407895.1:c.4861+1G>A
  • NM_001407896.1:c.4861+1G>A
  • NM_001407897.1:c.4861+1G>A
  • NM_001407898.1:c.4861+1G>A
  • NM_001407899.1:c.4861+1G>A
  • NM_001407900.1:c.4861+1G>A
  • NM_001407902.1:c.4861+1G>A
  • NM_001407904.1:c.4861+1G>A
  • NM_001407906.1:c.4861+1G>A
  • NM_001407907.1:c.4861+1G>A
  • NM_001407908.1:c.4861+1G>A
  • NM_001407909.1:c.4861+1G>A
  • NM_001407910.1:c.4861+1G>A
  • NM_001407915.1:c.4858+1G>A
  • NM_001407916.1:c.4858+1G>A
  • NM_001407917.1:c.4858+1G>A
  • NM_001407918.1:c.4858+1G>A
  • NM_001407919.1:c.4951+1G>A
  • NM_001407920.1:c.4810+1G>A
  • NM_001407921.1:c.4810+1G>A
  • NM_001407922.1:c.4810+1G>A
  • NM_001407923.1:c.4810+1G>A
  • NM_001407924.1:c.4810+1G>A
  • NM_001407925.1:c.4810+1G>A
  • NM_001407926.1:c.4810+1G>A
  • NM_001407927.1:c.4807+1G>A
  • NM_001407928.1:c.4807+1G>A
  • NM_001407929.1:c.4807+1G>A
  • NM_001407930.1:c.4807+1G>A
  • NM_001407931.1:c.4807+1G>A
  • NM_001407932.1:c.4807+1G>A
  • NM_001407933.1:c.4807+1G>A
  • NM_001407934.1:c.4804+1G>A
  • NM_001407935.1:c.4804+1G>A
  • NM_001407936.1:c.4804+1G>A
  • NM_001407937.1:c.4951+1G>A
  • NM_001407938.1:c.4951+1G>A
  • NM_001407939.1:c.4948+1G>A
  • NM_001407940.1:c.4948+1G>A
  • NM_001407941.1:c.4945+1G>A
  • NM_001407942.1:c.4933+1G>A
  • NM_001407943.1:c.4930+1G>A
  • NM_001407944.1:c.4930+1G>A
  • NM_001407945.1:c.4930+1G>A
  • NM_001407946.1:c.4741+1G>A
  • NM_001407947.1:c.4741+1G>A
  • NM_001407948.1:c.4741+1G>A
  • NM_001407949.1:c.4741+1G>A
  • NM_001407950.1:c.4738+1G>A
  • NM_001407951.1:c.4738+1G>A
  • NM_001407952.1:c.4738+1G>A
  • NM_001407953.1:c.4738+1G>A
  • NM_001407954.1:c.4738+1G>A
  • NM_001407955.1:c.4738+1G>A
  • NM_001407956.1:c.4735+1G>A
  • NM_001407957.1:c.4735+1G>A
  • NM_001407958.1:c.4735+1G>A
  • NM_001407959.1:c.4693+1G>A
  • NM_001407960.1:c.4690+1G>A
  • NM_001407962.1:c.4690+1G>A
  • NM_001407963.1:c.4687+1G>A
  • NM_001407964.1:c.4612+1G>A
  • NM_001407965.1:c.4567+1G>A
  • NM_001407966.1:c.4186+1G>A
  • NM_001407967.1:c.4183+1G>A
  • NM_001407968.1:c.2470+1G>A
  • NM_001407969.1:c.2467+1G>A
  • NM_001407970.1:c.1831+1G>A
  • NM_001407971.1:c.1831+1G>A
  • NM_001407972.1:c.1828+1G>A
  • NM_001407973.1:c.1765+1G>A
  • NM_001407974.1:c.1765+1G>A
  • NM_001407975.1:c.1765+1G>A
  • NM_001407976.1:c.1765+1G>A
  • NM_001407977.1:c.1765+1G>A
  • NM_001407978.1:c.1765+1G>A
  • NM_001407979.1:c.1762+1G>A
  • NM_001407980.1:c.1762+1G>A
  • NM_001407981.1:c.1762+1G>A
  • NM_001407982.1:c.1762+1G>A
  • NM_001407983.1:c.1762+1G>A
  • NM_001407984.1:c.1762+1G>A
  • NM_001407985.1:c.1762+1G>A
  • NM_001407986.1:c.1762+1G>A
  • NM_001407990.1:c.1762+1G>A
  • NM_001407991.1:c.1762+1G>A
  • NM_001407992.1:c.1762+1G>A
  • NM_001407993.1:c.1762+1G>A
  • NM_001408392.1:c.1759+1G>A
  • NM_001408396.1:c.1759+1G>A
  • NM_001408397.1:c.1759+1G>A
  • NM_001408398.1:c.1759+1G>A
  • NM_001408399.1:c.1759+1G>A
  • NM_001408400.1:c.1759+1G>A
  • NM_001408401.1:c.1759+1G>A
  • NM_001408402.1:c.1759+1G>A
  • NM_001408403.1:c.1759+1G>A
  • NM_001408404.1:c.1759+1G>A
  • NM_001408406.1:c.1756+1G>A
  • NM_001408407.1:c.1756+1G>A
  • NM_001408408.1:c.1756+1G>A
  • NM_001408409.1:c.1753+1G>A
  • NM_001408410.1:c.1690+1G>A
  • NM_001408411.1:c.1687+1G>A
  • NM_001408412.1:c.1684+1G>A
  • NM_001408413.1:c.1684+1G>A
  • NM_001408414.1:c.1684+1G>A
  • NM_001408415.1:c.1684+1G>A
  • NM_001408416.1:c.1684+1G>A
  • NM_001408418.1:c.1648+1G>A
  • NM_001408419.1:c.1648+1G>A
  • NM_001408420.1:c.1648+1G>A
  • NM_001408421.1:c.1645+1G>A
  • NM_001408422.1:c.1645+1G>A
  • NM_001408423.1:c.1645+1G>A
  • NM_001408424.1:c.1645+1G>A
  • NM_001408425.1:c.1642+1G>A
  • NM_001408426.1:c.1642+1G>A
  • NM_001408427.1:c.1642+1G>A
  • NM_001408428.1:c.1642+1G>A
  • NM_001408429.1:c.1642+1G>A
  • NM_001408430.1:c.1642+1G>A
  • NM_001408431.1:c.1642+1G>A
  • NM_001408432.1:c.1639+1G>A
  • NM_001408433.1:c.1639+1G>A
  • NM_001408434.1:c.1639+1G>A
  • NM_001408435.1:c.1639+1G>A
  • NM_001408436.1:c.1639+1G>A
  • NM_001408437.1:c.1639+1G>A
  • NM_001408438.1:c.1639+1G>A
  • NM_001408439.1:c.1639+1G>A
  • NM_001408440.1:c.1639+1G>A
  • NM_001408441.1:c.1639+1G>A
  • NM_001408442.1:c.1639+1G>A
  • NM_001408443.1:c.1639+1G>A
  • NM_001408444.1:c.1639+1G>A
  • NM_001408445.1:c.1636+1G>A
  • NM_001408446.1:c.1636+1G>A
  • NM_001408447.1:c.1636+1G>A
  • NM_001408448.1:c.1636+1G>A
  • NM_001408450.1:c.1636+1G>A
  • NM_001408451.1:c.1630+1G>A
  • NM_001408452.1:c.1624+1G>A
  • NM_001408453.1:c.1624+1G>A
  • NM_001408454.1:c.1624+1G>A
  • NM_001408455.1:c.1624+1G>A
  • NM_001408456.1:c.1624+1G>A
  • NM_001408457.1:c.1624+1G>A
  • NM_001408458.1:c.1621+1G>A
  • NM_001408459.1:c.1621+1G>A
  • NM_001408460.1:c.1621+1G>A
  • NM_001408461.1:c.1621+1G>A
  • NM_001408462.1:c.1621+1G>A
  • NM_001408463.1:c.1621+1G>A
  • NM_001408464.1:c.1621+1G>A
  • NM_001408465.1:c.1621+1G>A
  • NM_001408466.1:c.1621+1G>A
  • NM_001408467.1:c.1621+1G>A
  • NM_001408468.1:c.1618+1G>A
  • NM_001408469.1:c.1618+1G>A
  • NM_001408470.1:c.1618+1G>A
  • NM_001408472.1:c.1762+1G>A
  • NM_001408473.1:c.1759+1G>A
  • NM_001408474.1:c.1564+1G>A
  • NM_001408475.1:c.1561+1G>A
  • NM_001408476.1:c.1561+1G>A
  • NM_001408478.1:c.1555+1G>A
  • NM_001408479.1:c.1555+1G>A
  • NM_001408480.1:c.1555+1G>A
  • NM_001408481.1:c.1552+1G>A
  • NM_001408482.1:c.1552+1G>A
  • NM_001408483.1:c.1552+1G>A
  • NM_001408484.1:c.1552+1G>A
  • NM_001408485.1:c.1552+1G>A
  • NM_001408489.1:c.1552+1G>A
  • NM_001408490.1:c.1552+1G>A
  • NM_001408491.1:c.1552+1G>A
  • NM_001408492.1:c.1549+1G>A
  • NM_001408493.1:c.1549+1G>A
  • NM_001408494.1:c.1525+1G>A
  • NM_001408495.1:c.1519+1G>A
  • NM_001408496.1:c.1501+1G>A
  • NM_001408497.1:c.1501+1G>A
  • NM_001408498.1:c.1501+1G>A
  • NM_001408499.1:c.1501+1G>A
  • NM_001408500.1:c.1501+1G>A
  • NM_001408501.1:c.1501+1G>A
  • NM_001408502.1:c.1498+1G>A
  • NM_001408503.1:c.1498+1G>A
  • NM_001408504.1:c.1498+1G>A
  • NM_001408505.1:c.1495+1G>A
  • NM_001408506.1:c.1438+1G>A
  • NM_001408507.1:c.1435+1G>A
  • NM_001408508.1:c.1426+1G>A
  • NM_001408509.1:c.1423+1G>A
  • NM_001408510.1:c.1384+1G>A
  • NM_001408511.1:c.1381+1G>A
  • NM_001408512.1:c.1261+1G>A
  • NM_001408513.1:c.1234+1G>A
  • NM_001408514.1:c.839-3656G>A
  • NM_007294.4:c.5074+1G>AMANE SELECT
  • NM_007297.4:c.4933+1G>A
  • NM_007298.4:c.1762+1G>A
  • NM_007299.4:c.1762+1G>A
  • NM_007300.4:c.5137+1G>A
  • LRG_292t1:c.5074+1G>A
  • LRG_292:g.150377G>A
  • NC_000017.10:g.41219624C>T
  • NM_007294.3:c.5074+1G>A
  • NM_007300.3:c.5137+1G>A
  • U14680.1:n.5193+1G>A
Nucleotide change:
IVS17+1G>A
Links:
BRCA1-HCI: BRCA1_00122; Breast Cancer Information Core (BIC) (BRCA1): 5193+1&base_change=G to A; dbSNP: rs80358053
NCBI 1000 Genomes Browser:
rs80358053
Molecular consequence:
  • NM_001408514.1:c.839-3656G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.5140+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.5140+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.5134+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.5134+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.5065+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.5065+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.5062+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.5059+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.5017+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.5014+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.4993+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.4993+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.4993+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.4942+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.4942+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.4873+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.4867+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.4867+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.4804+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.4804+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.4804+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.4735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.4735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.4735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.4693+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.4690+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.4690+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.4687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.4612+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.4567+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.4186+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.4183+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.2470+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.2467+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.1831+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.1831+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.1828+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.1756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.1756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.1756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.1753+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.1690+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.1687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.1648+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.1648+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.1648+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408451.1:c.1630+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408454.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408457.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408459.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408460.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408461.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408464.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408467.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.1618+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.1618+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.1618+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.1564+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.1561+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.1561+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.1555+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.1555+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.1555+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.1549+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.1549+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.1525+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.1519+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408496.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408498.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.1498+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.1498+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.1498+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.1495+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.1438+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.1435+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.1426+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.1423+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.1384+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408511.1:c.1381+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.1261+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.1234+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591570Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

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Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591570.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 c.5074+1G>A variant was identified in 23 of 2120 proband chromosomes (frequency: 0.0108) from individuals or families with hereditary breast and ovarian cancer (Juwle 2012, Singh 2017). The variant was also identified in dbSNP (ID: rs80358053) as “With Pathogenic allele”, ClinVar (10x as pathogenic reviewed by expert panel), Clinvitae (4x as pathogenic), LOVD 3.0 (2x as pathogenic), BIC Database (3x), and ARUP Laboratories (as definitely pathogenic). The variant was not identified in Cosmic, MutDB, UMD-LSDB, or Zhejiang University Database. The variant was also identified by our laboratory in 1 individual with breast cancer. The variant was identified in control databases in 1 of 246152 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). It was observed in the South Asian population in 1 of 30782 chromosomes (freq: 0.000032), but not observed in the African, Other, Latino, European (Non-Finnish), Ashkenazi Jewish, East Asian, or Finnish populations. Several papers which studied variants based on multifactorial probability based models classified the variant as pathogenic (Easton 2007, Lindor 2012). The c.5074+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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

Last Updated: Nov 3, 2024