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

Germline classification:: Pathogenic (10 submissions)
Last evaluated:: Aug 10, 2015
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:: RCV000031210.23

Allele description [Variation Report for NM_007294.4(BRCA1):c.5074+1G>A]

NM_007294.4(BRCA1):c.5074+1G>A

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+1G>A

HGVS:

NC_000017.11:g.43067607C>T
NG_005905.2:g.150377G>A
NM_001407571.1:c.4861+1G>A
NM_001407581.1:c.5140+1G>A
NM_001407582.1:c.5140+1G>A
NM_001407583.1:c.5137+1G>A
NM_001407585.1:c.5137+1G>A
NM_001407587.1:c.5137+1G>A
NM_001407590.1:c.5134+1G>A
NM_001407591.1:c.5134+1G>A
NM_001407593.1:c.5074+1G>A
NM_001407594.1:c.5074+1G>A
NM_001407596.1:c.5074+1G>A
NM_001407597.1:c.5074+1G>A
NM_001407598.1:c.5074+1G>A
NM_001407602.1:c.5074+1G>A
NM_001407603.1:c.5074+1G>A
NM_001407605.1:c.5074+1G>A
NM_001407610.1:c.5071+1G>A
NM_001407611.1:c.5071+1G>A
NM_001407612.1:c.5071+1G>A
NM_001407613.1:c.5071+1G>A
NM_001407614.1:c.5071+1G>A
NM_001407615.1:c.5071+1G>A
NM_001407616.1:c.5071+1G>A
NM_001407617.1:c.5071+1G>A
NM_001407618.1:c.5071+1G>A
NM_001407619.1:c.5071+1G>A
NM_001407620.1:c.5071+1G>A
NM_001407621.1:c.5071+1G>A
NM_001407622.1:c.5071+1G>A
NM_001407623.1:c.5071+1G>A
NM_001407624.1:c.5071+1G>A
NM_001407625.1:c.5071+1G>A
NM_001407626.1:c.5071+1G>A
NM_001407627.1:c.5068+1G>A
NM_001407628.1:c.5068+1G>A
NM_001407629.1:c.5068+1G>A
NM_001407630.1:c.5068+1G>A
NM_001407631.1:c.5068+1G>A
NM_001407632.1:c.5068+1G>A
NM_001407633.1:c.5068+1G>A
NM_001407634.1:c.5068+1G>A
NM_001407635.1:c.5068+1G>A
NM_001407636.1:c.5068+1G>A
NM_001407637.1:c.5068+1G>A
NM_001407638.1:c.5068+1G>A
NM_001407639.1:c.5068+1G>A
NM_001407640.1:c.5068+1G>A
NM_001407641.1:c.5068+1G>A
NM_001407642.1:c.5068+1G>A
NM_001407644.1:c.5065+1G>A
NM_001407645.1:c.5065+1G>A
NM_001407646.1:c.5062+1G>A
NM_001407647.1:c.5059+1G>A
NM_001407648.1:c.5017+1G>A
NM_001407649.1:c.5014+1G>A
NM_001407652.1:c.5074+1G>A
NM_001407653.1:c.4996+1G>A
NM_001407654.1:c.4996+1G>A
NM_001407655.1:c.4996+1G>A
NM_001407656.1:c.4993+1G>A
NM_001407657.1:c.4993+1G>A
NM_001407658.1:c.4993+1G>A
NM_001407659.1:c.4990+1G>A
NM_001407660.1:c.4990+1G>A
NM_001407661.1:c.4990+1G>A
NM_001407662.1:c.4990+1G>A
NM_001407663.1:c.4990+1G>A
NM_001407664.1:c.4951+1G>A
NM_001407665.1:c.4951+1G>A
NM_001407666.1:c.4951+1G>A
NM_001407667.1:c.4951+1G>A
NM_001407668.1:c.4951+1G>A
NM_001407669.1:c.4951+1G>A
NM_001407670.1:c.4948+1G>A
NM_001407671.1:c.4948+1G>A
NM_001407672.1:c.4948+1G>A
NM_001407673.1:c.4948+1G>A
NM_001407674.1:c.4948+1G>A
NM_001407675.1:c.4948+1G>A
NM_001407676.1:c.4948+1G>A
NM_001407677.1:c.4948+1G>A
NM_001407678.1:c.4948+1G>A
NM_001407679.1:c.4948+1G>A
NM_001407680.1:c.4948+1G>A
NM_001407681.1:c.4945+1G>A
NM_001407682.1:c.4945+1G>A
NM_001407683.1:c.4945+1G>A
NM_001407684.1:c.5074+1G>A
NM_001407685.1:c.4945+1G>A
NM_001407686.1:c.4945+1G>A
NM_001407687.1:c.4945+1G>A
NM_001407688.1:c.4945+1G>A
NM_001407689.1:c.4945+1G>A
NM_001407690.1:c.4942+1G>A
NM_001407691.1:c.4942+1G>A
NM_001407692.1:c.4933+1G>A
NM_001407694.1:c.4933+1G>A
NM_001407695.1:c.4933+1G>A
NM_001407696.1:c.4933+1G>A
NM_001407697.1:c.4933+1G>A
NM_001407698.1:c.4933+1G>A
NM_001407724.1:c.4933+1G>A
NM_001407725.1:c.4933+1G>A
NM_001407726.1:c.4933+1G>A
NM_001407727.1:c.4933+1G>A
NM_001407728.1:c.4933+1G>A
NM_001407729.1:c.4933+1G>A
NM_001407730.1:c.4933+1G>A
NM_001407731.1:c.4933+1G>A
NM_001407732.1:c.4930+1G>A
NM_001407733.1:c.4930+1G>A
NM_001407734.1:c.4930+1G>A
NM_001407735.1:c.4930+1G>A
NM_001407736.1:c.4930+1G>A
NM_001407737.1:c.4930+1G>A
NM_001407738.1:c.4930+1G>A
NM_001407739.1:c.4930+1G>A
NM_001407740.1:c.4930+1G>A
NM_001407741.1:c.4930+1G>A
NM_001407742.1:c.4930+1G>A
NM_001407743.1:c.4930+1G>A
NM_001407744.1:c.4930+1G>A
NM_001407745.1:c.4930+1G>A
NM_001407746.1:c.4930+1G>A
NM_001407747.1:c.4930+1G>A
NM_001407748.1:c.4930+1G>A
NM_001407749.1:c.4930+1G>A
NM_001407750.1:c.4930+1G>A
NM_001407751.1:c.4930+1G>A
NM_001407752.1:c.4930+1G>A
NM_001407838.1:c.4927+1G>A
NM_001407839.1:c.4927+1G>A
NM_001407841.1:c.4927+1G>A
NM_001407842.1:c.4927+1G>A
NM_001407843.1:c.4927+1G>A
NM_001407844.1:c.4927+1G>A
NM_001407845.1:c.4927+1G>A
NM_001407846.1:c.4927+1G>A
NM_001407847.1:c.4927+1G>A
NM_001407848.1:c.4927+1G>A
NM_001407849.1:c.4927+1G>A
NM_001407850.1:c.4927+1G>A
NM_001407851.1:c.4927+1G>A
NM_001407852.1:c.4927+1G>A
NM_001407853.1:c.4927+1G>A
NM_001407854.1:c.5074+1G>A
NM_001407858.1:c.5071+1G>A
NM_001407859.1:c.5071+1G>A
NM_001407860.1:c.5071+1G>A
NM_001407861.1:c.5068+1G>A
NM_001407862.1:c.4873+1G>A
NM_001407863.1:c.4948+1G>A
NM_001407874.1:c.4867+1G>A
NM_001407875.1:c.4867+1G>A
NM_001407879.1:c.4864+1G>A
NM_001407881.1:c.4864+1G>A
NM_001407882.1:c.4864+1G>A
NM_001407884.1:c.4864+1G>A
NM_001407885.1:c.4864+1G>A
NM_001407886.1:c.4864+1G>A
NM_001407887.1:c.4864+1G>A
NM_001407889.1:c.4864+1G>A
NM_001407894.1:c.4861+1G>A
NM_001407895.1:c.4861+1G>A
NM_001407896.1:c.4861+1G>A
NM_001407897.1:c.4861+1G>A
NM_001407898.1:c.4861+1G>A
NM_001407899.1:c.4861+1G>A
NM_001407900.1:c.4861+1G>A
NM_001407902.1:c.4861+1G>A
NM_001407904.1:c.4861+1G>A
NM_001407906.1:c.4861+1G>A
NM_001407907.1:c.4861+1G>A
NM_001407908.1:c.4861+1G>A
NM_001407909.1:c.4861+1G>A
NM_001407910.1:c.4861+1G>A
NM_001407915.1:c.4858+1G>A
NM_001407916.1:c.4858+1G>A
NM_001407917.1:c.4858+1G>A
NM_001407918.1:c.4858+1G>A
NM_001407919.1:c.4951+1G>A
NM_001407920.1:c.4810+1G>A
NM_001407921.1:c.4810+1G>A
NM_001407922.1:c.4810+1G>A
NM_001407923.1:c.4810+1G>A
NM_001407924.1:c.4810+1G>A
NM_001407925.1:c.4810+1G>A
NM_001407926.1:c.4810+1G>A
NM_001407927.1:c.4807+1G>A
NM_001407928.1:c.4807+1G>A
NM_001407929.1:c.4807+1G>A
NM_001407930.1:c.4807+1G>A
NM_001407931.1:c.4807+1G>A
NM_001407932.1:c.4807+1G>A
NM_001407933.1:c.4807+1G>A
NM_001407934.1:c.4804+1G>A
NM_001407935.1:c.4804+1G>A
NM_001407936.1:c.4804+1G>A
NM_001407937.1:c.4951+1G>A
NM_001407938.1:c.4951+1G>A
NM_001407939.1:c.4948+1G>A
NM_001407940.1:c.4948+1G>A
NM_001407941.1:c.4945+1G>A
NM_001407942.1:c.4933+1G>A
NM_001407943.1:c.4930+1G>A
NM_001407944.1:c.4930+1G>A
NM_001407945.1:c.4930+1G>A
NM_001407946.1:c.4741+1G>A
NM_001407947.1:c.4741+1G>A
NM_001407948.1:c.4741+1G>A
NM_001407949.1:c.4741+1G>A
NM_001407950.1:c.4738+1G>A
NM_001407951.1:c.4738+1G>A
NM_001407952.1:c.4738+1G>A
NM_001407953.1:c.4738+1G>A
NM_001407954.1:c.4738+1G>A
NM_001407955.1:c.4738+1G>A
NM_001407956.1:c.4735+1G>A
NM_001407957.1:c.4735+1G>A
NM_001407958.1:c.4735+1G>A
NM_001407959.1:c.4693+1G>A
NM_001407960.1:c.4690+1G>A
NM_001407962.1:c.4690+1G>A
NM_001407963.1:c.4687+1G>A
NM_001407964.1:c.4612+1G>A
NM_001407965.1:c.4567+1G>A
NM_001407966.1:c.4186+1G>A
NM_001407967.1:c.4183+1G>A
NM_001407968.1:c.2470+1G>A
NM_001407969.1:c.2467+1G>A
NM_001407970.1:c.1831+1G>A
NM_001407971.1:c.1831+1G>A
NM_001407972.1:c.1828+1G>A
NM_001407973.1:c.1765+1G>A
NM_001407974.1:c.1765+1G>A
NM_001407975.1:c.1765+1G>A
NM_001407976.1:c.1765+1G>A
NM_001407977.1:c.1765+1G>A
NM_001407978.1:c.1765+1G>A
NM_001407979.1:c.1762+1G>A
NM_001407980.1:c.1762+1G>A
NM_001407981.1:c.1762+1G>A
NM_001407982.1:c.1762+1G>A
NM_001407983.1:c.1762+1G>A
NM_001407984.1:c.1762+1G>A
NM_001407985.1:c.1762+1G>A
NM_001407986.1:c.1762+1G>A
NM_001407990.1:c.1762+1G>A
NM_001407991.1:c.1762+1G>A
NM_001407992.1:c.1762+1G>A
NM_001407993.1:c.1762+1G>A
NM_001408392.1:c.1759+1G>A
NM_001408396.1:c.1759+1G>A
NM_001408397.1:c.1759+1G>A
NM_001408398.1:c.1759+1G>A
NM_001408399.1:c.1759+1G>A
NM_001408400.1:c.1759+1G>A
NM_001408401.1:c.1759+1G>A
NM_001408402.1:c.1759+1G>A
NM_001408403.1:c.1759+1G>A
NM_001408404.1:c.1759+1G>A
NM_001408406.1:c.1756+1G>A
NM_001408407.1:c.1756+1G>A
NM_001408408.1:c.1756+1G>A
NM_001408409.1:c.1753+1G>A
NM_001408410.1:c.1690+1G>A
NM_001408411.1:c.1687+1G>A
NM_001408412.1:c.1684+1G>A
NM_001408413.1:c.1684+1G>A
NM_001408414.1:c.1684+1G>A
NM_001408415.1:c.1684+1G>A
NM_001408416.1:c.1684+1G>A
NM_001408418.1:c.1648+1G>A
NM_001408419.1:c.1648+1G>A
NM_001408420.1:c.1648+1G>A
NM_001408421.1:c.1645+1G>A
NM_001408422.1:c.1645+1G>A
NM_001408423.1:c.1645+1G>A
NM_001408424.1:c.1645+1G>A
NM_001408425.1:c.1642+1G>A
NM_001408426.1:c.1642+1G>A
NM_001408427.1:c.1642+1G>A
NM_001408428.1:c.1642+1G>A
NM_001408429.1:c.1642+1G>A
NM_001408430.1:c.1642+1G>A
NM_001408431.1:c.1642+1G>A
NM_001408432.1:c.1639+1G>A
NM_001408433.1:c.1639+1G>A
NM_001408434.1:c.1639+1G>A
NM_001408435.1:c.1639+1G>A
NM_001408436.1:c.1639+1G>A
NM_001408437.1:c.1639+1G>A
NM_001408438.1:c.1639+1G>A
NM_001408439.1:c.1639+1G>A
NM_001408440.1:c.1639+1G>A
NM_001408441.1:c.1639+1G>A
NM_001408442.1:c.1639+1G>A
NM_001408443.1:c.1639+1G>A
NM_001408444.1:c.1639+1G>A
NM_001408445.1:c.1636+1G>A
NM_001408446.1:c.1636+1G>A
NM_001408447.1:c.1636+1G>A
NM_001408448.1:c.1636+1G>A
NM_001408450.1:c.1636+1G>A
NM_001408451.1:c.1630+1G>A
NM_001408452.1:c.1624+1G>A
NM_001408453.1:c.1624+1G>A
NM_001408454.1:c.1624+1G>A
NM_001408455.1:c.1624+1G>A
NM_001408456.1:c.1624+1G>A
NM_001408457.1:c.1624+1G>A
NM_001408458.1:c.1621+1G>A
NM_001408459.1:c.1621+1G>A
NM_001408460.1:c.1621+1G>A
NM_001408461.1:c.1621+1G>A
NM_001408462.1:c.1621+1G>A
NM_001408463.1:c.1621+1G>A
NM_001408464.1:c.1621+1G>A
NM_001408465.1:c.1621+1G>A
NM_001408466.1:c.1621+1G>A
NM_001408467.1:c.1621+1G>A
NM_001408468.1:c.1618+1G>A
NM_001408469.1:c.1618+1G>A
NM_001408470.1:c.1618+1G>A
NM_001408472.1:c.1762+1G>A
NM_001408473.1:c.1759+1G>A
NM_001408474.1:c.1564+1G>A
NM_001408475.1:c.1561+1G>A
NM_001408476.1:c.1561+1G>A
NM_001408478.1:c.1555+1G>A
NM_001408479.1:c.1555+1G>A
NM_001408480.1:c.1555+1G>A
NM_001408481.1:c.1552+1G>A
NM_001408482.1:c.1552+1G>A
NM_001408483.1:c.1552+1G>A
NM_001408484.1:c.1552+1G>A
NM_001408485.1:c.1552+1G>A
NM_001408489.1:c.1552+1G>A
NM_001408490.1:c.1552+1G>A
NM_001408491.1:c.1552+1G>A
NM_001408492.1:c.1549+1G>A
NM_001408493.1:c.1549+1G>A
NM_001408494.1:c.1525+1G>A
NM_001408495.1:c.1519+1G>A
NM_001408496.1:c.1501+1G>A
NM_001408497.1:c.1501+1G>A
NM_001408498.1:c.1501+1G>A
NM_001408499.1:c.1501+1G>A
NM_001408500.1:c.1501+1G>A
NM_001408501.1:c.1501+1G>A
NM_001408502.1:c.1498+1G>A
NM_001408503.1:c.1498+1G>A
NM_001408504.1:c.1498+1G>A
NM_001408505.1:c.1495+1G>A
NM_001408506.1:c.1438+1G>A
NM_001408507.1:c.1435+1G>A
NM_001408508.1:c.1426+1G>A
NM_001408509.1:c.1423+1G>A
NM_001408510.1:c.1384+1G>A
NM_001408511.1:c.1381+1G>A
NM_001408512.1:c.1261+1G>A
NM_001408513.1:c.1234+1G>A
NM_001408514.1:c.839-3656G>A
NM_007294.4:c.5074+1G>AMANE SELECT
NM_007297.4:c.4933+1G>A
NM_007298.4:c.1762+1G>A
NM_007299.4:c.1762+1G>A
NM_007300.4:c.5137+1G>A
LRG_292t1:c.5074+1G>A
LRG_292:g.150377G>A
NC_000017.10:g.41219624C>T
NM_007294.3:c.5074+1G>A
U14680.1:n.5193+1G>A

Nucleotide change:

IVS17+1G>A

Links:

BRCA1-HCI: BRCA1_00122; Breast Cancer Information Core (BIC) (BRCA1): 5193+1&base_change=G to A; dbSNP: rs80358053

NCBI 1000 Genomes Browser:

rs80358053

Molecular consequence:

NM_001408514.1:c.839-3656G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.5140+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.5140+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.5134+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.5134+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.5065+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.5065+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.5062+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.5059+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.5017+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.5014+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.4996+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.4993+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.4993+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.4993+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.4990+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.4942+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.4942+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407692.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407698.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407726.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407732.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407736.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407738.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407742.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407744.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407747.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407750.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407751.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407845.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407849.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407852.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.4927+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.5071+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.5068+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.4873+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.4867+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.4867+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407881.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.4864+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407898.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407902.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.4861+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.4858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407924.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407925.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.4810+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407928.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407929.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407931.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407932.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.4807+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.4804+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.4804+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407936.1:c.4804+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.4951+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.4948+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.4945+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407945.1:c.4930+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.4741+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.4738+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.4735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.4735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.4735+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407959.1:c.4693+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.4690+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.4690+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407963.1:c.4687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.4612+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.4567+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407966.1:c.4186+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407967.1:c.4183+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.2470+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.2467+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.1831+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.1831+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.1828+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.1765+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.1756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.1756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.1756+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.1753+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.1690+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.1687+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.1684+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.1648+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.1648+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.1648+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.1645+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.1642+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.1639+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.1636+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408451.1:c.1630+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408454.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408457.1:c.1624+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408459.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408460.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408461.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408464.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408467.1:c.1621+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.1618+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.1618+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.1618+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.1759+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.1564+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.1561+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.1561+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.1555+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.1555+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.1555+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.1552+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.1549+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.1549+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.1525+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.1519+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408496.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408498.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.1501+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.1498+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.1498+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.1498+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.1495+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.1438+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.1435+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.1426+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.1423+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.1384+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408511.1:c.1381+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.1261+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.1234+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.5074+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.4933+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.1762+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.5137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; 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
SCV000053810	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Mar 5, 2012)	germline	clinical testing
SCV000145288	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000244381	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000296376	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 21, 2015)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17924331, 21990134, 26467025, 26295337
SCV000326131	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV001237533	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,
SCV004047090	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004216950	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 9, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004243954	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Mar 2, 2020)	germline	clinical testing
SCV004930336	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 19, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	germline	unknown	not provided	11	not provided	not provided	not provided	clinical testing, curation
Asian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]

PMID:: 17924331
PMCID:: PMC2265654

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]

PMID:: 21990134
PMCID:: PMC3242438

See all PubMed Citations (6)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053810.6

#	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	3	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA2:5323G>A (D1699N)	1

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145288.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	Asian	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244381.1

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296376.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326131.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	11	not provided

From Brotman Baty Institute, University of Washington, SCV001237533.1

#	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 Neuberg Centre For Genomic Medicine, NCGM, SCV004047090.1

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

Description

The invariant splice site c.5074+1G>A variant has been reported previously in heterozygous state in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Singh J et al). The variant is novel (not in any individuals) in gnomAD and in 1000 Genomes. This sequence change affects a donor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Multifactorial likelihood analyses based on genetic evidence such as family history, co-segregation with disease, and co-occurrence with pathogenic variants predict that this variant is likely deleterious (Easton DF et al). Donor and acceptor splice site variants typically lead to a loss of protein function and loss-of-function variants in BRCA1 are known to be pathogenic (Baralle D et al). For these reasons, this variant has been classified as Pathogenic.

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

From Baylor Genetics, SCV004216950.1

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

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

From BRCAlab, Lund University, SCV004243954.1

#	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 Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV004930336.1

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

Description

A heterozygous 5' splice site variation in intron 16 of the BRCA1 gene that affects the invariant GT donor splice site of exon 16 (c.5074+1G>A). The observed variation (also known as IVS17+1G>A) has been previously reported in multiple breast and ovarian cancer patients [PMID: 29470806, 31528241, 17924331]. The variant has not been reported in the 1000 genomes, gnomAD V3.0 and gnomAD V2.1 databases. The in-silico prediction of the variant is damaging by Mutation Taster 2 tool. The reference base is conserved across mammals. In summary, the variant meets our criteria to be classified as pathogenic.

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

Last Updated: Jun 2, 2024

Relating variation to medicine