NM_007294.4(BRCA1):c.5074+6C>G AND not specified
- Germline classification:
- Benign (5 submissions)
- Last evaluated:
- Aug 15, 2023
- 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:
- RCV000501126.22
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.
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens PHD finger protein 5A (PHF5A), mRNA
Homo sapiens PHD finger protein 5A (PHF5A), mRNAgi|55925655|ref|NM_032758.3|Nucleotide
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See more...Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000918720 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Benign (Nov 13, 2017) | germline | clinical testing | |
| SCV001470006 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Benign (Jan 18, 2021) | unknown | clinical testing | |
| SCV001956818 | Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus
| no assertion criteria provided | Benign | germline | clinical testing | |
| SCV001969002 | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
| no assertion criteria provided | Benign | germline | clinical testing | |
| SCV002550957 | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Aug 15, 2023) | germline | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
| not provided | germline | unknown | 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 |
Citations
PubMed
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.
Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.
PubMed [citation]
- PMID:
- 30209399
- PMCID:
- PMC6181777
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
PubMed [citation]
- PMID:
- 31131967
- PMCID:
- PMC6772163
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918720.1
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (7) |
Description
Variant summary: The BRCA1 c.5074+6C>G variant involves the alteration of a non-conserved intronic nucleotide. MutationTaster predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. Functional studies confirmed that this variant has no effect on splicing (Bonatti_2006, Houdayer_2011, Steffensen_2014). This variant was found in 16/276994 control chromosomes (gnomAD) at a frequency of 0.0000578, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). This variant has been reported in multiple HBOC patients in literature without cosegregation and co-occurrence evidence. In a clinical database (UMD), this variant is reported to co-occur with two deleterious variants in BRCA1 (c.4327C>T (p.Arg1443X) and c.1088delA (p.Asn363IlefsX11)), strongly supporting a benign outcome. In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
| # | 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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470006.3
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (11) |
| # | 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 Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956818.1
| # | 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 Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001969002.1
| # | 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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002550957.4
| # | 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 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided | |
Last Updated: Oct 26, 2024