NM_007294.4(BRCA1):c.5074+6C>G AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (9 submissions)
Last evaluated:: Jun 18, 2019
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000077153.25

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

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)

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108950	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Benign (Feb 4, 2009)	germline	clinical testing
SCV000145292	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000267717	Michigan Medical Genetics Laboratories, University of Michigan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 21, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000487958	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Dec 10, 2015)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24667779, 22505045, 16267036, 24916970, 17011978 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001140491	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001161602	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Benign (Jun 18, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001243471	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004243953	BRCAlab, Lund University	no assertion criteria provided	Benign (Mar 2, 2020)	germline	clinical testing
SCV004815201	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Dec 13, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	13	not provided	not provided	108544	not provided	clinical testing, curation
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

Steffensen AY, Dandanell M, Jønson L, Ejlertsen B, Gerdes AM, Nielsen FC, Hansen Tv.

Eur J Hum Genet. 2014 Dec;22(12):1362-8. doi: 10.1038/ejhg.2014.40. Epub 2014 Mar 26.

PubMed [citation]

PMID:: 24667779
PMCID:: PMC4231409

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, et al.

Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.

PubMed [citation]

PMID:: 22505045

See all PubMed Citations (8)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108950.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145292.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	2	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		2	not provided	not provided	not provided

From Michigan Medical Genetics Laboratories, University of Michigan, SCV000267717.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	Blood	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000487958.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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 Mendelics, SCV001140491.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161602.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 5.98E-08

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001243471.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From BRCAlab, Lund University, SCV004243953.1

#	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 All of Us Research Program, National Institutes of Health, SCV004815201.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	13	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	108544	not provided	not provided		13	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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