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NM_007294.4(BRCA1):c.5074+2T>C AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000465250.24

Allele description [Variation Report for NM_007294.4(BRCA1):c.5074+2T>C]

NM_007294.4(BRCA1):c.5074+2T>C

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+2T>C
HGVS:
  • NC_000017.11:g.43067606A>G
  • NG_005905.2:g.150378T>C
  • NM_001407571.1:c.4861+2T>C
  • NM_001407581.1:c.5140+2T>C
  • NM_001407582.1:c.5140+2T>C
  • NM_001407583.1:c.5137+2T>C
  • NM_001407585.1:c.5137+2T>C
  • NM_001407587.1:c.5137+2T>C
  • NM_001407590.1:c.5134+2T>C
  • NM_001407591.1:c.5134+2T>C
  • NM_001407593.1:c.5074+2T>C
  • NM_001407594.1:c.5074+2T>C
  • NM_001407596.1:c.5074+2T>C
  • NM_001407597.1:c.5074+2T>C
  • NM_001407598.1:c.5074+2T>C
  • NM_001407602.1:c.5074+2T>C
  • NM_001407603.1:c.5074+2T>C
  • NM_001407605.1:c.5074+2T>C
  • NM_001407610.1:c.5071+2T>C
  • NM_001407611.1:c.5071+2T>C
  • NM_001407612.1:c.5071+2T>C
  • NM_001407613.1:c.5071+2T>C
  • NM_001407614.1:c.5071+2T>C
  • NM_001407615.1:c.5071+2T>C
  • NM_001407616.1:c.5071+2T>C
  • NM_001407617.1:c.5071+2T>C
  • NM_001407618.1:c.5071+2T>C
  • NM_001407619.1:c.5071+2T>C
  • NM_001407620.1:c.5071+2T>C
  • NM_001407621.1:c.5071+2T>C
  • NM_001407622.1:c.5071+2T>C
  • NM_001407623.1:c.5071+2T>C
  • NM_001407624.1:c.5071+2T>C
  • NM_001407625.1:c.5071+2T>C
  • NM_001407626.1:c.5071+2T>C
  • NM_001407627.1:c.5068+2T>C
  • NM_001407628.1:c.5068+2T>C
  • NM_001407629.1:c.5068+2T>C
  • NM_001407630.1:c.5068+2T>C
  • NM_001407631.1:c.5068+2T>C
  • NM_001407632.1:c.5068+2T>C
  • NM_001407633.1:c.5068+2T>C
  • NM_001407634.1:c.5068+2T>C
  • NM_001407635.1:c.5068+2T>C
  • NM_001407636.1:c.5068+2T>C
  • NM_001407637.1:c.5068+2T>C
  • NM_001407638.1:c.5068+2T>C
  • NM_001407639.1:c.5068+2T>C
  • NM_001407640.1:c.5068+2T>C
  • NM_001407641.1:c.5068+2T>C
  • NM_001407642.1:c.5068+2T>C
  • NM_001407644.1:c.5065+2T>C
  • NM_001407645.1:c.5065+2T>C
  • NM_001407646.1:c.5062+2T>C
  • NM_001407647.1:c.5059+2T>C
  • NM_001407648.1:c.5017+2T>C
  • NM_001407649.1:c.5014+2T>C
  • NM_001407652.1:c.5074+2T>C
  • NM_001407653.1:c.4996+2T>C
  • NM_001407654.1:c.4996+2T>C
  • NM_001407655.1:c.4996+2T>C
  • NM_001407656.1:c.4993+2T>C
  • NM_001407657.1:c.4993+2T>C
  • NM_001407658.1:c.4993+2T>C
  • NM_001407659.1:c.4990+2T>C
  • NM_001407660.1:c.4990+2T>C
  • NM_001407661.1:c.4990+2T>C
  • NM_001407662.1:c.4990+2T>C
  • NM_001407663.1:c.4990+2T>C
  • NM_001407664.1:c.4951+2T>C
  • NM_001407665.1:c.4951+2T>C
  • NM_001407666.1:c.4951+2T>C
  • NM_001407667.1:c.4951+2T>C
  • NM_001407668.1:c.4951+2T>C
  • NM_001407669.1:c.4951+2T>C
  • NM_001407670.1:c.4948+2T>C
  • NM_001407671.1:c.4948+2T>C
  • NM_001407672.1:c.4948+2T>C
  • NM_001407673.1:c.4948+2T>C
  • NM_001407674.1:c.4948+2T>C
  • NM_001407675.1:c.4948+2T>C
  • NM_001407676.1:c.4948+2T>C
  • NM_001407677.1:c.4948+2T>C
  • NM_001407678.1:c.4948+2T>C
  • NM_001407679.1:c.4948+2T>C
  • NM_001407680.1:c.4948+2T>C
  • NM_001407681.1:c.4945+2T>C
  • NM_001407682.1:c.4945+2T>C
  • NM_001407683.1:c.4945+2T>C
  • NM_001407684.1:c.5074+2T>C
  • NM_001407685.1:c.4945+2T>C
  • NM_001407686.1:c.4945+2T>C
  • NM_001407687.1:c.4945+2T>C
  • NM_001407688.1:c.4945+2T>C
  • NM_001407689.1:c.4945+2T>C
  • NM_001407690.1:c.4942+2T>C
  • NM_001407691.1:c.4942+2T>C
  • NM_001407692.1:c.4933+2T>C
  • NM_001407694.1:c.4933+2T>C
  • NM_001407695.1:c.4933+2T>C
  • NM_001407696.1:c.4933+2T>C
  • NM_001407697.1:c.4933+2T>C
  • NM_001407698.1:c.4933+2T>C
  • NM_001407724.1:c.4933+2T>C
  • NM_001407725.1:c.4933+2T>C
  • NM_001407726.1:c.4933+2T>C
  • NM_001407727.1:c.4933+2T>C
  • NM_001407728.1:c.4933+2T>C
  • NM_001407729.1:c.4933+2T>C
  • NM_001407730.1:c.4933+2T>C
  • NM_001407731.1:c.4933+2T>C
  • NM_001407732.1:c.4930+2T>C
  • NM_001407733.1:c.4930+2T>C
  • NM_001407734.1:c.4930+2T>C
  • NM_001407735.1:c.4930+2T>C
  • NM_001407736.1:c.4930+2T>C
  • NM_001407737.1:c.4930+2T>C
  • NM_001407738.1:c.4930+2T>C
  • NM_001407739.1:c.4930+2T>C
  • NM_001407740.1:c.4930+2T>C
  • NM_001407741.1:c.4930+2T>C
  • NM_001407742.1:c.4930+2T>C
  • NM_001407743.1:c.4930+2T>C
  • NM_001407744.1:c.4930+2T>C
  • NM_001407745.1:c.4930+2T>C
  • NM_001407746.1:c.4930+2T>C
  • NM_001407747.1:c.4930+2T>C
  • NM_001407748.1:c.4930+2T>C
  • NM_001407749.1:c.4930+2T>C
  • NM_001407750.1:c.4930+2T>C
  • NM_001407751.1:c.4930+2T>C
  • NM_001407752.1:c.4930+2T>C
  • NM_001407838.1:c.4927+2T>C
  • NM_001407839.1:c.4927+2T>C
  • NM_001407841.1:c.4927+2T>C
  • NM_001407842.1:c.4927+2T>C
  • NM_001407843.1:c.4927+2T>C
  • NM_001407844.1:c.4927+2T>C
  • NM_001407845.1:c.4927+2T>C
  • NM_001407846.1:c.4927+2T>C
  • NM_001407847.1:c.4927+2T>C
  • NM_001407848.1:c.4927+2T>C
  • NM_001407849.1:c.4927+2T>C
  • NM_001407850.1:c.4927+2T>C
  • NM_001407851.1:c.4927+2T>C
  • NM_001407852.1:c.4927+2T>C
  • NM_001407853.1:c.4927+2T>C
  • NM_001407854.1:c.5074+2T>C
  • NM_001407858.1:c.5071+2T>C
  • NM_001407859.1:c.5071+2T>C
  • NM_001407860.1:c.5071+2T>C
  • NM_001407861.1:c.5068+2T>C
  • NM_001407862.1:c.4873+2T>C
  • NM_001407863.1:c.4948+2T>C
  • NM_001407874.1:c.4867+2T>C
  • NM_001407875.1:c.4867+2T>C
  • NM_001407879.1:c.4864+2T>C
  • NM_001407881.1:c.4864+2T>C
  • NM_001407882.1:c.4864+2T>C
  • NM_001407884.1:c.4864+2T>C
  • NM_001407885.1:c.4864+2T>C
  • NM_001407886.1:c.4864+2T>C
  • NM_001407887.1:c.4864+2T>C
  • NM_001407889.1:c.4864+2T>C
  • NM_001407894.1:c.4861+2T>C
  • NM_001407895.1:c.4861+2T>C
  • NM_001407896.1:c.4861+2T>C
  • NM_001407897.1:c.4861+2T>C
  • NM_001407898.1:c.4861+2T>C
  • NM_001407899.1:c.4861+2T>C
  • NM_001407900.1:c.4861+2T>C
  • NM_001407902.1:c.4861+2T>C
  • NM_001407904.1:c.4861+2T>C
  • NM_001407906.1:c.4861+2T>C
  • NM_001407907.1:c.4861+2T>C
  • NM_001407908.1:c.4861+2T>C
  • NM_001407909.1:c.4861+2T>C
  • NM_001407910.1:c.4861+2T>C
  • NM_001407915.1:c.4858+2T>C
  • NM_001407916.1:c.4858+2T>C
  • NM_001407917.1:c.4858+2T>C
  • NM_001407918.1:c.4858+2T>C
  • NM_001407919.1:c.4951+2T>C
  • NM_001407920.1:c.4810+2T>C
  • NM_001407921.1:c.4810+2T>C
  • NM_001407922.1:c.4810+2T>C
  • NM_001407923.1:c.4810+2T>C
  • NM_001407924.1:c.4810+2T>C
  • NM_001407925.1:c.4810+2T>C
  • NM_001407926.1:c.4810+2T>C
  • NM_001407927.1:c.4807+2T>C
  • NM_001407928.1:c.4807+2T>C
  • NM_001407929.1:c.4807+2T>C
  • NM_001407930.1:c.4807+2T>C
  • NM_001407931.1:c.4807+2T>C
  • NM_001407932.1:c.4807+2T>C
  • NM_001407933.1:c.4807+2T>C
  • NM_001407934.1:c.4804+2T>C
  • NM_001407935.1:c.4804+2T>C
  • NM_001407936.1:c.4804+2T>C
  • NM_001407937.1:c.4951+2T>C
  • NM_001407938.1:c.4951+2T>C
  • NM_001407939.1:c.4948+2T>C
  • NM_001407940.1:c.4948+2T>C
  • NM_001407941.1:c.4945+2T>C
  • NM_001407942.1:c.4933+2T>C
  • NM_001407943.1:c.4930+2T>C
  • NM_001407944.1:c.4930+2T>C
  • NM_001407945.1:c.4930+2T>C
  • NM_001407946.1:c.4741+2T>C
  • NM_001407947.1:c.4741+2T>C
  • NM_001407948.1:c.4741+2T>C
  • NM_001407949.1:c.4741+2T>C
  • NM_001407950.1:c.4738+2T>C
  • NM_001407951.1:c.4738+2T>C
  • NM_001407952.1:c.4738+2T>C
  • NM_001407953.1:c.4738+2T>C
  • NM_001407954.1:c.4738+2T>C
  • NM_001407955.1:c.4738+2T>C
  • NM_001407956.1:c.4735+2T>C
  • NM_001407957.1:c.4735+2T>C
  • NM_001407958.1:c.4735+2T>C
  • NM_001407959.1:c.4693+2T>C
  • NM_001407960.1:c.4690+2T>C
  • NM_001407962.1:c.4690+2T>C
  • NM_001407963.1:c.4687+2T>C
  • NM_001407964.1:c.4612+2T>C
  • NM_001407965.1:c.4567+2T>C
  • NM_001407966.1:c.4186+2T>C
  • NM_001407967.1:c.4183+2T>C
  • NM_001407968.1:c.2470+2T>C
  • NM_001407969.1:c.2467+2T>C
  • NM_001407970.1:c.1831+2T>C
  • NM_001407971.1:c.1831+2T>C
  • NM_001407972.1:c.1828+2T>C
  • NM_001407973.1:c.1765+2T>C
  • NM_001407974.1:c.1765+2T>C
  • NM_001407975.1:c.1765+2T>C
  • NM_001407976.1:c.1765+2T>C
  • NM_001407977.1:c.1765+2T>C
  • NM_001407978.1:c.1765+2T>C
  • NM_001407979.1:c.1762+2T>C
  • NM_001407980.1:c.1762+2T>C
  • NM_001407981.1:c.1762+2T>C
  • NM_001407982.1:c.1762+2T>C
  • NM_001407983.1:c.1762+2T>C
  • NM_001407984.1:c.1762+2T>C
  • NM_001407985.1:c.1762+2T>C
  • NM_001407986.1:c.1762+2T>C
  • NM_001407990.1:c.1762+2T>C
  • NM_001407991.1:c.1762+2T>C
  • NM_001407992.1:c.1762+2T>C
  • NM_001407993.1:c.1762+2T>C
  • NM_001408392.1:c.1759+2T>C
  • NM_001408396.1:c.1759+2T>C
  • NM_001408397.1:c.1759+2T>C
  • NM_001408398.1:c.1759+2T>C
  • NM_001408399.1:c.1759+2T>C
  • NM_001408400.1:c.1759+2T>C
  • NM_001408401.1:c.1759+2T>C
  • NM_001408402.1:c.1759+2T>C
  • NM_001408403.1:c.1759+2T>C
  • NM_001408404.1:c.1759+2T>C
  • NM_001408406.1:c.1756+2T>C
  • NM_001408407.1:c.1756+2T>C
  • NM_001408408.1:c.1756+2T>C
  • NM_001408409.1:c.1753+2T>C
  • NM_001408410.1:c.1690+2T>C
  • NM_001408411.1:c.1687+2T>C
  • NM_001408412.1:c.1684+2T>C
  • NM_001408413.1:c.1684+2T>C
  • NM_001408414.1:c.1684+2T>C
  • NM_001408415.1:c.1684+2T>C
  • NM_001408416.1:c.1684+2T>C
  • NM_001408418.1:c.1648+2T>C
  • NM_001408419.1:c.1648+2T>C
  • NM_001408420.1:c.1648+2T>C
  • NM_001408421.1:c.1645+2T>C
  • NM_001408422.1:c.1645+2T>C
  • NM_001408423.1:c.1645+2T>C
  • NM_001408424.1:c.1645+2T>C
  • NM_001408425.1:c.1642+2T>C
  • NM_001408426.1:c.1642+2T>C
  • NM_001408427.1:c.1642+2T>C
  • NM_001408428.1:c.1642+2T>C
  • NM_001408429.1:c.1642+2T>C
  • NM_001408430.1:c.1642+2T>C
  • NM_001408431.1:c.1642+2T>C
  • NM_001408432.1:c.1639+2T>C
  • NM_001408433.1:c.1639+2T>C
  • NM_001408434.1:c.1639+2T>C
  • NM_001408435.1:c.1639+2T>C
  • NM_001408436.1:c.1639+2T>C
  • NM_001408437.1:c.1639+2T>C
  • NM_001408438.1:c.1639+2T>C
  • NM_001408439.1:c.1639+2T>C
  • NM_001408440.1:c.1639+2T>C
  • NM_001408441.1:c.1639+2T>C
  • NM_001408442.1:c.1639+2T>C
  • NM_001408443.1:c.1639+2T>C
  • NM_001408444.1:c.1639+2T>C
  • NM_001408445.1:c.1636+2T>C
  • NM_001408446.1:c.1636+2T>C
  • NM_001408447.1:c.1636+2T>C
  • NM_001408448.1:c.1636+2T>C
  • NM_001408450.1:c.1636+2T>C
  • NM_001408451.1:c.1630+2T>C
  • NM_001408452.1:c.1624+2T>C
  • NM_001408453.1:c.1624+2T>C
  • NM_001408454.1:c.1624+2T>C
  • NM_001408455.1:c.1624+2T>C
  • NM_001408456.1:c.1624+2T>C
  • NM_001408457.1:c.1624+2T>C
  • NM_001408458.1:c.1621+2T>C
  • NM_001408459.1:c.1621+2T>C
  • NM_001408460.1:c.1621+2T>C
  • NM_001408461.1:c.1621+2T>C
  • NM_001408462.1:c.1621+2T>C
  • NM_001408463.1:c.1621+2T>C
  • NM_001408464.1:c.1621+2T>C
  • NM_001408465.1:c.1621+2T>C
  • NM_001408466.1:c.1621+2T>C
  • NM_001408467.1:c.1621+2T>C
  • NM_001408468.1:c.1618+2T>C
  • NM_001408469.1:c.1618+2T>C
  • NM_001408470.1:c.1618+2T>C
  • NM_001408472.1:c.1762+2T>C
  • NM_001408473.1:c.1759+2T>C
  • NM_001408474.1:c.1564+2T>C
  • NM_001408475.1:c.1561+2T>C
  • NM_001408476.1:c.1561+2T>C
  • NM_001408478.1:c.1555+2T>C
  • NM_001408479.1:c.1555+2T>C
  • NM_001408480.1:c.1555+2T>C
  • NM_001408481.1:c.1552+2T>C
  • NM_001408482.1:c.1552+2T>C
  • NM_001408483.1:c.1552+2T>C
  • NM_001408484.1:c.1552+2T>C
  • NM_001408485.1:c.1552+2T>C
  • NM_001408489.1:c.1552+2T>C
  • NM_001408490.1:c.1552+2T>C
  • NM_001408491.1:c.1552+2T>C
  • NM_001408492.1:c.1549+2T>C
  • NM_001408493.1:c.1549+2T>C
  • NM_001408494.1:c.1525+2T>C
  • NM_001408495.1:c.1519+2T>C
  • NM_001408496.1:c.1501+2T>C
  • NM_001408497.1:c.1501+2T>C
  • NM_001408498.1:c.1501+2T>C
  • NM_001408499.1:c.1501+2T>C
  • NM_001408500.1:c.1501+2T>C
  • NM_001408501.1:c.1501+2T>C
  • NM_001408502.1:c.1498+2T>C
  • NM_001408503.1:c.1498+2T>C
  • NM_001408504.1:c.1498+2T>C
  • NM_001408505.1:c.1495+2T>C
  • NM_001408506.1:c.1438+2T>C
  • NM_001408507.1:c.1435+2T>C
  • NM_001408508.1:c.1426+2T>C
  • NM_001408509.1:c.1423+2T>C
  • NM_001408510.1:c.1384+2T>C
  • NM_001408511.1:c.1381+2T>C
  • NM_001408512.1:c.1261+2T>C
  • NM_001408513.1:c.1234+2T>C
  • NM_001408514.1:c.839-3655T>C
  • NM_007294.4:c.5074+2T>CMANE SELECT
  • NM_007297.4:c.4933+2T>C
  • NM_007298.4:c.1762+2T>C
  • NM_007299.4:c.1762+2T>C
  • NM_007300.4:c.5137+2T>C
  • LRG_292t1:c.5074+2T>C
  • LRG_292:g.150378T>C
  • NC_000017.10:g.41219623A>G
  • NM_007294.3:c.5074+2T>C
  • U14680.1:n.5193+2T>C
Nucleotide change:
IVS17+2T>C
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5193+2&base_change=T to C; dbSNP: rs80358089
NCBI 1000 Genomes Browser:
rs80358089
Molecular consequence:
  • NM_001408514.1:c.839-3655T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407581.1:c.5140+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407582.1:c.5140+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407583.1:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407585.1:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407587.1:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407590.1:c.5134+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407591.1:c.5134+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407593.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407594.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407596.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407597.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407598.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407602.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407603.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407605.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407610.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407611.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407612.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407613.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407614.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407615.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407616.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407617.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407618.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407619.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407620.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407621.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407622.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407623.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407624.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407625.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407626.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407627.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407628.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407629.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407630.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407631.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407632.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407633.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407634.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407635.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407636.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407637.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407638.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407639.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407640.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407641.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407642.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407644.1:c.5065+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407645.1:c.5065+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407646.1:c.5062+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407647.1:c.5059+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407648.1:c.5017+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407649.1:c.5014+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407652.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407653.1:c.4996+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407654.1:c.4996+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407655.1:c.4996+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407656.1:c.4993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407657.1:c.4993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407658.1:c.4993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407659.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407660.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407661.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407662.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407663.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407664.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407665.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407666.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407667.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407668.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407669.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407670.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407671.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407672.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407673.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407674.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407675.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407676.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407677.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407678.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407679.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407680.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407681.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407682.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407683.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407684.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407685.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407686.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407687.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407688.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407689.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407690.1:c.4942+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407691.1:c.4942+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407692.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407694.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407695.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407696.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407697.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407698.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407724.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407725.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407726.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407727.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407728.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407729.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407730.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407731.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407732.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407733.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407734.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407735.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407736.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407737.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407738.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407739.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407740.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407741.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407742.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407743.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407744.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407745.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407746.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407747.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407748.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407749.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407750.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407751.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407752.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407838.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407839.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407841.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407842.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407843.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407844.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407845.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407846.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407847.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407848.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407849.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407850.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407851.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407852.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407853.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407854.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407858.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407859.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407860.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407861.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407862.1:c.4873+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407863.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407874.1:c.4867+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407875.1:c.4867+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407879.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407881.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407882.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407884.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407885.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407886.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407887.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407889.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407894.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407895.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407896.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407897.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407898.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407899.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407900.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407902.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407904.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407906.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407907.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407908.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407909.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407910.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407915.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407916.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407917.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407918.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407919.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407920.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407921.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407922.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407923.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407924.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407925.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407926.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407927.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407928.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407929.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407930.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407931.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407932.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407933.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407934.1:c.4804+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407935.1:c.4804+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407936.1:c.4804+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407937.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407938.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407939.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407940.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407941.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407942.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407943.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407944.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407945.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407946.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407947.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407948.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407949.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407950.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407951.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407952.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407953.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407954.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407955.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407956.1:c.4735+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407957.1:c.4735+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407958.1:c.4735+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407959.1:c.4693+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407960.1:c.4690+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407962.1:c.4690+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407963.1:c.4687+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407964.1:c.4612+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407965.1:c.4567+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407966.1:c.4186+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407967.1:c.4183+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407968.1:c.2470+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407969.1:c.2467+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407970.1:c.1831+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407971.1:c.1831+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407972.1:c.1828+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407973.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407974.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407975.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407976.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407977.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407978.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407979.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407980.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407981.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407982.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407983.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407984.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407985.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407986.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407990.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407991.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407992.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407993.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408392.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408396.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408397.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408398.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408399.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408400.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408401.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408402.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408403.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408404.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408406.1:c.1756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408407.1:c.1756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408408.1:c.1756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408409.1:c.1753+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408410.1:c.1690+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408411.1:c.1687+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408412.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408413.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408414.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408415.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408416.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408418.1:c.1648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408419.1:c.1648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408420.1:c.1648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408421.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408422.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408423.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408424.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408425.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408426.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408427.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408428.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408429.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408430.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408431.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408432.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408433.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408434.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408435.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408436.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408437.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408438.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408439.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408440.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408441.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408442.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408443.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408444.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408445.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408446.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408447.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408448.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408450.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408451.1:c.1630+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408452.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408453.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408454.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408455.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408456.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408457.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408458.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408459.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408460.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408461.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408462.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408463.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408464.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408465.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408466.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408467.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408468.1:c.1618+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408469.1:c.1618+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408470.1:c.1618+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408472.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408473.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408474.1:c.1564+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408475.1:c.1561+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408476.1:c.1561+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408478.1:c.1555+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408479.1:c.1555+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408480.1:c.1555+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408481.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408482.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408483.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408484.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408485.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408489.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408490.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408491.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408492.1:c.1549+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408493.1:c.1549+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408494.1:c.1525+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408495.1:c.1519+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408496.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408497.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408498.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408499.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408500.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408501.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408502.1:c.1498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408503.1:c.1498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408504.1:c.1498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408505.1:c.1495+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408506.1:c.1438+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408507.1:c.1435+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408508.1:c.1426+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408509.1:c.1423+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408510.1:c.1384+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408511.1:c.1381+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408512.1:c.1261+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001408513.1:c.1234+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.4:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000549302Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 24, 2023) 		germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

SCV000587453Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
31131967
PMCID:
PMC6772163

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777
See all PubMed Citations (10)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000549302.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 31131967). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 30209399). ClinVar contains an entry for this variant (Variation ID: 37631). This variant is also known as IVS17+2T>C. Disruption of this splice site has been observed in individual(s) with breast and/or ovarian cancer (PMID: 25556971, 27914478, 28717669, 29339979, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024