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

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 7, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000563483.17

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000660953Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 26, 2018) 		germlineclinical testing

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

Citation Link,

SCV000683248Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 7, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.

J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.

PubMed [citation]
PMID:
25556971

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV000660953.5

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

Description

The c.5074+2T>C intronic pathogenic mutation results from a T to C substitution two nucleotides after coding exon 15 in the BRCA1 gene. This alteration has been previously reported in multiple patients undergoing genetic testing based on personal and/or family history concerning for hereditary breast and ovarian cancer (HBOC) syndrome (Trujillano D et al. J Mol Diagn. 2015 Mar;17:162-70; Lourenco J et al. Genet Mol Biol. Sao Paulo. 2004;27(4):500-504). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV000683248.4

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

Description

This variant causes a T to C nucleotide substitution at the +2 position of intron 16 of the BRCA1 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. A study using peripheral blood-derived RNA from a carrier has shown that this variant impacts normal RNA splicing (PMID: 30159786). A viability assay using human haploid cell line has shown that this variant disrupts normal BRCA1 function (PMID: 30209399). This variant has been reported in individuals affected with breast and/or ovarian cancer (PMID: 25556971, 27914478, 29339979, 30159786, Color internal data). In addition, a multifactorial likelihood model using health history and tumor pathology data have suggested this variant have a high probability of being pathogenic (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 26, 2024