NM_007294.4(BRCA1):c.5074+6C>G AND not provided
- Germline classification:
- Benign/Likely benign (6 submissions)
- Last evaluated:
- Mar 1, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000656627.28
Allele description [Variation Report for NM_007294.4(BRCA1):c.5074+6C>G]
NM_007294.4(BRCA1):c.5074+6C>G
- 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+6C>G
- HGVS:
- NC_000017.11:g.43067602G>C
- NG_005905.2:g.150382C>G
- NM_001407571.1:c.4861+6C>G
- NM_001407581.1:c.5140+6C>G
- NM_001407582.1:c.5140+6C>G
- NM_001407583.1:c.5137+6C>G
- NM_001407585.1:c.5137+6C>G
- NM_001407587.1:c.5137+6C>G
- NM_001407590.1:c.5134+6C>G
- NM_001407591.1:c.5134+6C>G
- NM_001407593.1:c.5074+6C>G
- NM_001407594.1:c.5074+6C>G
- NM_001407596.1:c.5074+6C>G
- NM_001407597.1:c.5074+6C>G
- NM_001407598.1:c.5074+6C>G
- NM_001407602.1:c.5074+6C>G
- NM_001407603.1:c.5074+6C>G
- NM_001407605.1:c.5074+6C>G
- NM_001407610.1:c.5071+6C>G
- NM_001407611.1:c.5071+6C>G
- NM_001407612.1:c.5071+6C>G
- NM_001407613.1:c.5071+6C>G
- NM_001407614.1:c.5071+6C>G
- NM_001407615.1:c.5071+6C>G
- NM_001407616.1:c.5071+6C>G
- NM_001407617.1:c.5071+6C>G
- NM_001407618.1:c.5071+6C>G
- NM_001407619.1:c.5071+6C>G
- NM_001407620.1:c.5071+6C>G
- NM_001407621.1:c.5071+6C>G
- NM_001407622.1:c.5071+6C>G
- NM_001407623.1:c.5071+6C>G
- NM_001407624.1:c.5071+6C>G
- NM_001407625.1:c.5071+6C>G
- NM_001407626.1:c.5071+6C>G
- NM_001407627.1:c.5068+6C>G
- NM_001407628.1:c.5068+6C>G
- NM_001407629.1:c.5068+6C>G
- NM_001407630.1:c.5068+6C>G
- NM_001407631.1:c.5068+6C>G
- NM_001407632.1:c.5068+6C>G
- NM_001407633.1:c.5068+6C>G
- NM_001407634.1:c.5068+6C>G
- NM_001407635.1:c.5068+6C>G
- NM_001407636.1:c.5068+6C>G
- NM_001407637.1:c.5068+6C>G
- NM_001407638.1:c.5068+6C>G
- NM_001407639.1:c.5068+6C>G
- NM_001407640.1:c.5068+6C>G
- NM_001407641.1:c.5068+6C>G
- NM_001407642.1:c.5068+6C>G
- NM_001407644.1:c.5065+6C>G
- NM_001407645.1:c.5065+6C>G
- NM_001407646.1:c.5062+6C>G
- NM_001407647.1:c.5059+6C>G
- NM_001407648.1:c.5017+6C>G
- NM_001407649.1:c.5014+6C>G
- NM_001407652.1:c.5074+6C>G
- NM_001407653.1:c.4996+6C>G
- NM_001407654.1:c.4996+6C>G
- NM_001407655.1:c.4996+6C>G
- NM_001407656.1:c.4993+6C>G
- NM_001407657.1:c.4993+6C>G
- NM_001407658.1:c.4993+6C>G
- NM_001407659.1:c.4990+6C>G
- NM_001407660.1:c.4990+6C>G
- NM_001407661.1:c.4990+6C>G
- NM_001407662.1:c.4990+6C>G
- NM_001407663.1:c.4990+6C>G
- NM_001407664.1:c.4951+6C>G
- NM_001407665.1:c.4951+6C>G
- NM_001407666.1:c.4951+6C>G
- NM_001407667.1:c.4951+6C>G
- NM_001407668.1:c.4951+6C>G
- NM_001407669.1:c.4951+6C>G
- NM_001407670.1:c.4948+6C>G
- NM_001407671.1:c.4948+6C>G
- NM_001407672.1:c.4948+6C>G
- NM_001407673.1:c.4948+6C>G
- NM_001407674.1:c.4948+6C>G
- NM_001407675.1:c.4948+6C>G
- NM_001407676.1:c.4948+6C>G
- NM_001407677.1:c.4948+6C>G
- NM_001407678.1:c.4948+6C>G
- NM_001407679.1:c.4948+6C>G
- NM_001407680.1:c.4948+6C>G
- NM_001407681.1:c.4945+6C>G
- NM_001407682.1:c.4945+6C>G
- NM_001407683.1:c.4945+6C>G
- NM_001407684.1:c.5074+6C>G
- NM_001407685.1:c.4945+6C>G
- NM_001407686.1:c.4945+6C>G
- NM_001407687.1:c.4945+6C>G
- NM_001407688.1:c.4945+6C>G
- NM_001407689.1:c.4945+6C>G
- NM_001407690.1:c.4942+6C>G
- NM_001407691.1:c.4942+6C>G
- NM_001407692.1:c.4933+6C>G
- NM_001407694.1:c.4933+6C>G
- NM_001407695.1:c.4933+6C>G
- NM_001407696.1:c.4933+6C>G
- NM_001407697.1:c.4933+6C>G
- NM_001407698.1:c.4933+6C>G
- NM_001407724.1:c.4933+6C>G
- NM_001407725.1:c.4933+6C>G
- NM_001407726.1:c.4933+6C>G
- NM_001407727.1:c.4933+6C>G
- NM_001407728.1:c.4933+6C>G
- NM_001407729.1:c.4933+6C>G
- NM_001407730.1:c.4933+6C>G
- NM_001407731.1:c.4933+6C>G
- NM_001407732.1:c.4930+6C>G
- NM_001407733.1:c.4930+6C>G
- NM_001407734.1:c.4930+6C>G
- NM_001407735.1:c.4930+6C>G
- NM_001407736.1:c.4930+6C>G
- NM_001407737.1:c.4930+6C>G
- NM_001407738.1:c.4930+6C>G
- NM_001407739.1:c.4930+6C>G
- NM_001407740.1:c.4930+6C>G
- NM_001407741.1:c.4930+6C>G
- NM_001407742.1:c.4930+6C>G
- NM_001407743.1:c.4930+6C>G
- NM_001407744.1:c.4930+6C>G
- NM_001407745.1:c.4930+6C>G
- NM_001407746.1:c.4930+6C>G
- NM_001407747.1:c.4930+6C>G
- NM_001407748.1:c.4930+6C>G
- NM_001407749.1:c.4930+6C>G
- NM_001407750.1:c.4930+6C>G
- NM_001407751.1:c.4930+6C>G
- NM_001407752.1:c.4930+6C>G
- NM_001407838.1:c.4927+6C>G
- NM_001407839.1:c.4927+6C>G
- NM_001407841.1:c.4927+6C>G
- NM_001407842.1:c.4927+6C>G
- NM_001407843.1:c.4927+6C>G
- NM_001407844.1:c.4927+6C>G
- NM_001407845.1:c.4927+6C>G
- NM_001407846.1:c.4927+6C>G
- NM_001407847.1:c.4927+6C>G
- NM_001407848.1:c.4927+6C>G
- NM_001407849.1:c.4927+6C>G
- NM_001407850.1:c.4927+6C>G
- NM_001407851.1:c.4927+6C>G
- NM_001407852.1:c.4927+6C>G
- NM_001407853.1:c.4927+6C>G
- NM_001407854.1:c.5074+6C>G
- NM_001407858.1:c.5071+6C>G
- NM_001407859.1:c.5071+6C>G
- NM_001407860.1:c.5071+6C>G
- NM_001407861.1:c.5068+6C>G
- NM_001407862.1:c.4873+6C>G
- NM_001407863.1:c.4948+6C>G
- NM_001407874.1:c.4867+6C>G
- NM_001407875.1:c.4867+6C>G
- NM_001407879.1:c.4864+6C>G
- NM_001407881.1:c.4864+6C>G
- NM_001407882.1:c.4864+6C>G
- NM_001407884.1:c.4864+6C>G
- NM_001407885.1:c.4864+6C>G
- NM_001407886.1:c.4864+6C>G
- NM_001407887.1:c.4864+6C>G
- NM_001407889.1:c.4864+6C>G
- NM_001407894.1:c.4861+6C>G
- NM_001407895.1:c.4861+6C>G
- NM_001407896.1:c.4861+6C>G
- NM_001407897.1:c.4861+6C>G
- NM_001407898.1:c.4861+6C>G
- NM_001407899.1:c.4861+6C>G
- NM_001407900.1:c.4861+6C>G
- NM_001407902.1:c.4861+6C>G
- NM_001407904.1:c.4861+6C>G
- NM_001407906.1:c.4861+6C>G
- NM_001407907.1:c.4861+6C>G
- NM_001407908.1:c.4861+6C>G
- NM_001407909.1:c.4861+6C>G
- NM_001407910.1:c.4861+6C>G
- NM_001407915.1:c.4858+6C>G
- NM_001407916.1:c.4858+6C>G
- NM_001407917.1:c.4858+6C>G
- NM_001407918.1:c.4858+6C>G
- NM_001407919.1:c.4951+6C>G
- NM_001407920.1:c.4810+6C>G
- NM_001407921.1:c.4810+6C>G
- NM_001407922.1:c.4810+6C>G
- NM_001407923.1:c.4810+6C>G
- NM_001407924.1:c.4810+6C>G
- NM_001407925.1:c.4810+6C>G
- NM_001407926.1:c.4810+6C>G
- NM_001407927.1:c.4807+6C>G
- NM_001407928.1:c.4807+6C>G
- NM_001407929.1:c.4807+6C>G
- NM_001407930.1:c.4807+6C>G
- NM_001407931.1:c.4807+6C>G
- NM_001407932.1:c.4807+6C>G
- NM_001407933.1:c.4807+6C>G
- NM_001407934.1:c.4804+6C>G
- NM_001407935.1:c.4804+6C>G
- NM_001407936.1:c.4804+6C>G
- NM_001407937.1:c.4951+6C>G
- NM_001407938.1:c.4951+6C>G
- NM_001407939.1:c.4948+6C>G
- NM_001407940.1:c.4948+6C>G
- NM_001407941.1:c.4945+6C>G
- NM_001407942.1:c.4933+6C>G
- NM_001407943.1:c.4930+6C>G
- NM_001407944.1:c.4930+6C>G
- NM_001407945.1:c.4930+6C>G
- NM_001407946.1:c.4741+6C>G
- NM_001407947.1:c.4741+6C>G
- NM_001407948.1:c.4741+6C>G
- NM_001407949.1:c.4741+6C>G
- NM_001407950.1:c.4738+6C>G
- NM_001407951.1:c.4738+6C>G
- NM_001407952.1:c.4738+6C>G
- NM_001407953.1:c.4738+6C>G
- NM_001407954.1:c.4738+6C>G
- NM_001407955.1:c.4738+6C>G
- NM_001407956.1:c.4735+6C>G
- NM_001407957.1:c.4735+6C>G
- NM_001407958.1:c.4735+6C>G
- NM_001407959.1:c.4693+6C>G
- NM_001407960.1:c.4690+6C>G
- NM_001407962.1:c.4690+6C>G
- NM_001407963.1:c.4687+6C>G
- NM_001407964.1:c.4612+6C>G
- NM_001407965.1:c.4567+6C>G
- NM_001407966.1:c.4186+6C>G
- NM_001407967.1:c.4183+6C>G
- NM_001407968.1:c.2470+6C>G
- NM_001407969.1:c.2467+6C>G
- NM_001407970.1:c.1831+6C>G
- NM_001407971.1:c.1831+6C>G
- NM_001407972.1:c.1828+6C>G
- NM_001407973.1:c.1765+6C>G
- NM_001407974.1:c.1765+6C>G
- NM_001407975.1:c.1765+6C>G
- NM_001407976.1:c.1765+6C>G
- NM_001407977.1:c.1765+6C>G
- NM_001407978.1:c.1765+6C>G
- NM_001407979.1:c.1762+6C>G
- NM_001407980.1:c.1762+6C>G
- NM_001407981.1:c.1762+6C>G
- NM_001407982.1:c.1762+6C>G
- NM_001407983.1:c.1762+6C>G
- NM_001407984.1:c.1762+6C>G
- NM_001407985.1:c.1762+6C>G
- NM_001407986.1:c.1762+6C>G
- NM_001407990.1:c.1762+6C>G
- NM_001407991.1:c.1762+6C>G
- NM_001407992.1:c.1762+6C>G
- NM_001407993.1:c.1762+6C>G
- NM_001408392.1:c.1759+6C>G
- NM_001408396.1:c.1759+6C>G
- NM_001408397.1:c.1759+6C>G
- NM_001408398.1:c.1759+6C>G
- NM_001408399.1:c.1759+6C>G
- NM_001408400.1:c.1759+6C>G
- NM_001408401.1:c.1759+6C>G
- NM_001408402.1:c.1759+6C>G
- NM_001408403.1:c.1759+6C>G
- NM_001408404.1:c.1759+6C>G
- NM_001408406.1:c.1756+6C>G
- NM_001408407.1:c.1756+6C>G
- NM_001408408.1:c.1756+6C>G
- NM_001408409.1:c.1753+6C>G
- NM_001408410.1:c.1690+6C>G
- NM_001408411.1:c.1687+6C>G
- NM_001408412.1:c.1684+6C>G
- NM_001408413.1:c.1684+6C>G
- NM_001408414.1:c.1684+6C>G
- NM_001408415.1:c.1684+6C>G
- NM_001408416.1:c.1684+6C>G
- NM_001408418.1:c.1648+6C>G
- NM_001408419.1:c.1648+6C>G
- NM_001408420.1:c.1648+6C>G
- NM_001408421.1:c.1645+6C>G
- NM_001408422.1:c.1645+6C>G
- NM_001408423.1:c.1645+6C>G
- NM_001408424.1:c.1645+6C>G
- NM_001408425.1:c.1642+6C>G
- NM_001408426.1:c.1642+6C>G
- NM_001408427.1:c.1642+6C>G
- NM_001408428.1:c.1642+6C>G
- NM_001408429.1:c.1642+6C>G
- NM_001408430.1:c.1642+6C>G
- NM_001408431.1:c.1642+6C>G
- NM_001408432.1:c.1639+6C>G
- NM_001408433.1:c.1639+6C>G
- NM_001408434.1:c.1639+6C>G
- NM_001408435.1:c.1639+6C>G
- NM_001408436.1:c.1639+6C>G
- NM_001408437.1:c.1639+6C>G
- NM_001408438.1:c.1639+6C>G
- NM_001408439.1:c.1639+6C>G
- NM_001408440.1:c.1639+6C>G
- NM_001408441.1:c.1639+6C>G
- NM_001408442.1:c.1639+6C>G
- NM_001408443.1:c.1639+6C>G
- NM_001408444.1:c.1639+6C>G
- NM_001408445.1:c.1636+6C>G
- NM_001408446.1:c.1636+6C>G
- NM_001408447.1:c.1636+6C>G
- NM_001408448.1:c.1636+6C>G
- NM_001408450.1:c.1636+6C>G
- NM_001408451.1:c.1630+6C>G
- NM_001408452.1:c.1624+6C>G
- NM_001408453.1:c.1624+6C>G
- NM_001408454.1:c.1624+6C>G
- NM_001408455.1:c.1624+6C>G
- NM_001408456.1:c.1624+6C>G
- NM_001408457.1:c.1624+6C>G
- NM_001408458.1:c.1621+6C>G
- NM_001408459.1:c.1621+6C>G
- NM_001408460.1:c.1621+6C>G
- NM_001408461.1:c.1621+6C>G
- NM_001408462.1:c.1621+6C>G
- NM_001408463.1:c.1621+6C>G
- NM_001408464.1:c.1621+6C>G
- NM_001408465.1:c.1621+6C>G
- NM_001408466.1:c.1621+6C>G
- NM_001408467.1:c.1621+6C>G
- NM_001408468.1:c.1618+6C>G
- NM_001408469.1:c.1618+6C>G
- NM_001408470.1:c.1618+6C>G
- NM_001408472.1:c.1762+6C>G
- NM_001408473.1:c.1759+6C>G
- NM_001408474.1:c.1564+6C>G
- NM_001408475.1:c.1561+6C>G
- NM_001408476.1:c.1561+6C>G
- NM_001408478.1:c.1555+6C>G
- NM_001408479.1:c.1555+6C>G
- NM_001408480.1:c.1555+6C>G
- NM_001408481.1:c.1552+6C>G
- NM_001408482.1:c.1552+6C>G
- NM_001408483.1:c.1552+6C>G
- NM_001408484.1:c.1552+6C>G
- NM_001408485.1:c.1552+6C>G
- NM_001408489.1:c.1552+6C>G
- NM_001408490.1:c.1552+6C>G
- NM_001408491.1:c.1552+6C>G
- NM_001408492.1:c.1549+6C>G
- NM_001408493.1:c.1549+6C>G
- NM_001408494.1:c.1525+6C>G
- NM_001408495.1:c.1519+6C>G
- NM_001408496.1:c.1501+6C>G
- NM_001408497.1:c.1501+6C>G
- NM_001408498.1:c.1501+6C>G
- NM_001408499.1:c.1501+6C>G
- NM_001408500.1:c.1501+6C>G
- NM_001408501.1:c.1501+6C>G
- NM_001408502.1:c.1498+6C>G
- NM_001408503.1:c.1498+6C>G
- NM_001408504.1:c.1498+6C>G
- NM_001408505.1:c.1495+6C>G
- NM_001408506.1:c.1438+6C>G
- NM_001408507.1:c.1435+6C>G
- NM_001408508.1:c.1426+6C>G
- NM_001408509.1:c.1423+6C>G
- NM_001408510.1:c.1384+6C>G
- NM_001408511.1:c.1381+6C>G
- NM_001408512.1:c.1261+6C>G
- NM_001408513.1:c.1234+6C>G
- NM_001408514.1:c.839-3651C>G
- NM_007294.4:c.5074+6C>GMANE SELECT
- NM_007297.4:c.4933+6C>G
- NM_007298.4:c.1762+6C>G
- NM_007299.4:c.1762+6C>G
- NM_007300.4:c.5137+6C>G
- LRG_292t1:c.5074+6C>G
- LRG_292:g.150382C>G
- NC_000017.10:g.41219619G>C
- NM_007294.3:c.5074+6C>G
- U14680.1:n.5193+6C>G
This HGVS expression did not pass validation- Nucleotide change:
- IVS17+6C>G
- Links:
- Breast Cancer Information Core (BIC) (BRCA1): 5193+6&base_change=C to G; dbSNP: rs80358032
- NCBI 1000 Genomes Browser:
- rs80358032
- Molecular consequence:
- NM_001407571.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.5140+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.5140+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.5137+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.5137+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.5137+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.5134+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.5134+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.5065+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.5065+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.5062+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.5059+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.5017+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.5014+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.4996+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.4996+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.4996+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.4993+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.4993+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.4993+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.4990+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.4990+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.4990+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.4990+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.4990+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.4942+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.4942+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.4927+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.5071+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.5068+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.4873+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.4867+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.4867+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.4864+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.4861+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.4858+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.4858+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.4858+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.4858+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.4810+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.4807+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.4804+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.4804+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.4804+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.4951+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.4948+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.4945+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.4930+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.4741+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.4741+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.4741+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.4741+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.4738+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.4738+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.4738+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.4738+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.4738+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.4738+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.4735+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.4735+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.4735+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.4693+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.4690+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.4690+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.4687+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.4612+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.4567+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.4186+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.4183+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.2470+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.2467+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.1831+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.1831+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.1828+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.1765+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.1765+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.1765+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.1765+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.1765+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.1765+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.1756+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.1756+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.1756+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.1753+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.1690+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.1687+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.1684+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.1684+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.1684+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.1684+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.1684+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.1648+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.1648+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.1648+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.1645+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.1645+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.1645+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.1645+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.1642+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.1639+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.1636+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.1636+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.1636+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.1636+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.1636+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.1630+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.1624+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.1624+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.1624+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.1624+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.1624+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.1624+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.1621+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.1618+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.1618+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.1618+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.1759+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.1564+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.1561+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.1561+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.1555+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.1555+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.1555+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.1552+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.1549+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.1549+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.1525+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.1519+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.1501+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.1501+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.1501+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.1501+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.1501+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.1501+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.1498+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.1498+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.1498+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.1495+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.1438+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.1435+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.1426+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.1423+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.1384+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.1381+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.1261+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.1234+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.839-3651C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.5074+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.4933+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.1762+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.5137+6C>G - intron variant - [Sequence Ontology: SO:0001627]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5074+6C>G, a SPLICE REGION variant, produced a function score of -0.36, corresponding to a functional classification of FUNCTIONAL. 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)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000591569 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Likely benign | unknown | clinical testing | |
| SCV000778734 | Mayo Clinic Laboratories, Mayo Clinic | no assertion criteria provided | Likely benign (Dec 28, 2016) | unknown | clinical testing | |
| SCV001891516 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification Process June 2021) | Benign (Mar 3, 2015) | germline | clinical testing | |
| SCV001906317 | Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus
| no assertion criteria provided | Likely benign | germline | clinical testing | |
| SCV001930809 | Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus
| no assertion criteria provided | Likely benign | germline | clinical testing | |
| SCV004811492 | CeGaT Center for Human Genetics Tuebingen | criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) | Likely benign (Mar 1, 2024) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
| not provided | unknown | yes | not provided | 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 |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591569.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The BRCA1, c.5074+6C>G variant was identified in 1 of 552 proband chromosomes (frequency: 0.002) from individuals or families with breast cancer (Bonatti 2006). The variant was also identified in dbSNP (ID: rs80358032), NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) database, LOVD, the ClinVar database (classified as a benign variant by the Sharing Clinical Reports Project, derived from Myriad reports; classified as an uncertain significance by BIC), GeneInsight VariantWire database (2X, classified as IARC 3 and Benign by clinical laboratories), the BIC database (2X with unknown clinical importance) and UMD (6X as a likely neutral variant). In UMD the variant was identified with a co-occurring pathogenic BRCA1 variant (c.4327C>T (p.Arg1443X)), increasing the likelihood that the c.5074+6C>G variant does not have clinical significance. This variant was identified in the Exome Variant Server project in 1 of 8600 European American alleles, the Exome Aggregation Consortium (ExAC) database (released Oct 20th, 2014) in 7 of 66484 chromosomes (frequency: 0.00001) from a population of European (Non-Finnish) individuals, although this low number of observations and low frequency is not substantive enough to determine the prevalence of the variant in the general population and its relationship to disease. The c.5074+6C>G variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. However, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. An RNA-based study by Bonatti (2006) found that the variant showed the same pattern in RT-PCR product as normal controls, suggesting that this variant expresses a normal mRNA transcript which would likely be translated into a wild-type protein. However, functional study by Steffensen (2014) identified minor increase in skipping of exon 17; minor increase in the transcripts lacking exon 17 compared with the wild type and classifies this variant as a VUS. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Mayo Clinic Laboratories, Mayo Clinic, SCV000778734.1
| # | 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 GeneDx, SCV001891516.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is associated with the following publications: (PMID: 30209399)
| # | 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 Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906317.1
| # | 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 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001930809.1
| # | 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 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
From CeGaT Center for Human Genetics Tuebingen, SCV004811492.7
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
Description
BRCA1: BP4
| # | 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 | |
Last Updated: Oct 26, 2024