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 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5074+2T>C, a CANONICAL SPLICE variant, produced a function score of -1.89, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
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
-
Dguok deoxyguanosine kinase [Rattus norvegicus]
Dguok deoxyguanosine kinase [Rattus norvegicus]Gene ID:297389Gene
-
Predicted gene, EG13909 [Mus musculus]
Predicted gene, EG13909 [Mus musculus]gi|17512361|gb|AAH19147.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000549302 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Apr 24, 2023) | germline | clinical testing | |
SCV000587453 | Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR) | no assertion criteria provided | Pathogenic (Jan 31, 2014) | germline | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | research |
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- 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.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Details of each submission
From Labcorp Genetics (formerly Invitae), Labcorp, SCV000549302.8
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical 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).
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587453.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024