NM_007294.4(BRCA1):c.5074+2T>C AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (9 submissions)
- Last evaluated:
- Jun 18, 2019
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- 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:
- RCV000031212.22
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.
- Observations:
- 1
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000053812 | Sharing Clinical Reports Project (SCRP) | no assertion criteria provided | Pathogenic (Mar 6, 2009) | germline | clinical testing | |
SCV000145290 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Pathogenic (May 29, 2002) | germline | clinical testing | |
SCV000326134 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV000564328 | Department of Medical Genetics, Oslo University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic (Jul 1, 2015) | germline | clinical testing | |
SCV001140493 | Mendelics | criteria provided, single submitter (Mendelics Assertion Criteria 2017) | Pathogenic (May 28, 2019) | unknown | clinical testing | |
SCV001161641 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29)) | Pathogenic (Jun 18, 2019) | germline | curation | |
SCV001237537 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV002512515 | Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jun 7, 2021) | germline | clinical testing | |
SCV004215175 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Mar 31, 2023) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | germline | not provided | 1 | not provided | not provided | 1 | not provided | clinical testing |
not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | 1 | not provided | not provided | not provided | clinical testing, curation |
Western European | germline | yes | 1 | 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 Sharing Clinical Reports Project (SCRP), SCV000053812.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | not provided | 1 | not provided | not provided | not provided | not provided | not provided | not provided |
From Breast Cancer Information Core (BIC) (BRCA1), SCV000145290.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Western European | 1 | not provided | not provided | clinical testing | 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 | 1 | not provided | not provided | not provided |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326134.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | 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 | 1 | not provided |
From Department of Medical Genetics, Oslo University Hospital, SCV000564328.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | 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 | 1 | not provided | not provided | not provided |
From Mendelics, SCV001140493.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161641.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.999563
# | 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 Brotman Baty Institute, University of Washington, SCV001237537.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512515.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate
# | 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 |
From Baylor Genetics, SCV004215175.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024