NM_007294.4(BRCA1):c.5074+2T>A AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 15, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000798936.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.5074+2T>A]

NM_007294.4(BRCA1):c.5074+2T>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+2T>A

HGVS:

NC_000017.11:g.43067606A>T
NG_005905.2:g.150378T>A
NM_001407571.1:c.4861+2T>A
NM_001407581.1:c.5140+2T>A
NM_001407582.1:c.5140+2T>A
NM_001407583.1:c.5137+2T>A
NM_001407585.1:c.5137+2T>A
NM_001407587.1:c.5137+2T>A
NM_001407590.1:c.5134+2T>A
NM_001407591.1:c.5134+2T>A
NM_001407593.1:c.5074+2T>A
NM_001407594.1:c.5074+2T>A
NM_001407596.1:c.5074+2T>A
NM_001407597.1:c.5074+2T>A
NM_001407598.1:c.5074+2T>A
NM_001407602.1:c.5074+2T>A
NM_001407603.1:c.5074+2T>A
NM_001407605.1:c.5074+2T>A
NM_001407610.1:c.5071+2T>A
NM_001407611.1:c.5071+2T>A
NM_001407612.1:c.5071+2T>A
NM_001407613.1:c.5071+2T>A
NM_001407614.1:c.5071+2T>A
NM_001407615.1:c.5071+2T>A
NM_001407616.1:c.5071+2T>A
NM_001407617.1:c.5071+2T>A
NM_001407618.1:c.5071+2T>A
NM_001407619.1:c.5071+2T>A
NM_001407620.1:c.5071+2T>A
NM_001407621.1:c.5071+2T>A
NM_001407622.1:c.5071+2T>A
NM_001407623.1:c.5071+2T>A
NM_001407624.1:c.5071+2T>A
NM_001407625.1:c.5071+2T>A
NM_001407626.1:c.5071+2T>A
NM_001407627.1:c.5068+2T>A
NM_001407628.1:c.5068+2T>A
NM_001407629.1:c.5068+2T>A
NM_001407630.1:c.5068+2T>A
NM_001407631.1:c.5068+2T>A
NM_001407632.1:c.5068+2T>A
NM_001407633.1:c.5068+2T>A
NM_001407634.1:c.5068+2T>A
NM_001407635.1:c.5068+2T>A
NM_001407636.1:c.5068+2T>A
NM_001407637.1:c.5068+2T>A
NM_001407638.1:c.5068+2T>A
NM_001407639.1:c.5068+2T>A
NM_001407640.1:c.5068+2T>A
NM_001407641.1:c.5068+2T>A
NM_001407642.1:c.5068+2T>A
NM_001407644.1:c.5065+2T>A
NM_001407645.1:c.5065+2T>A
NM_001407646.1:c.5062+2T>A
NM_001407647.1:c.5059+2T>A
NM_001407648.1:c.5017+2T>A
NM_001407649.1:c.5014+2T>A
NM_001407652.1:c.5074+2T>A
NM_001407653.1:c.4996+2T>A
NM_001407654.1:c.4996+2T>A
NM_001407655.1:c.4996+2T>A
NM_001407656.1:c.4993+2T>A
NM_001407657.1:c.4993+2T>A
NM_001407658.1:c.4993+2T>A
NM_001407659.1:c.4990+2T>A
NM_001407660.1:c.4990+2T>A
NM_001407661.1:c.4990+2T>A
NM_001407662.1:c.4990+2T>A
NM_001407663.1:c.4990+2T>A
NM_001407664.1:c.4951+2T>A
NM_001407665.1:c.4951+2T>A
NM_001407666.1:c.4951+2T>A
NM_001407667.1:c.4951+2T>A
NM_001407668.1:c.4951+2T>A
NM_001407669.1:c.4951+2T>A
NM_001407670.1:c.4948+2T>A
NM_001407671.1:c.4948+2T>A
NM_001407672.1:c.4948+2T>A
NM_001407673.1:c.4948+2T>A
NM_001407674.1:c.4948+2T>A
NM_001407675.1:c.4948+2T>A
NM_001407676.1:c.4948+2T>A
NM_001407677.1:c.4948+2T>A
NM_001407678.1:c.4948+2T>A
NM_001407679.1:c.4948+2T>A
NM_001407680.1:c.4948+2T>A
NM_001407681.1:c.4945+2T>A
NM_001407682.1:c.4945+2T>A
NM_001407683.1:c.4945+2T>A
NM_001407684.1:c.5074+2T>A
NM_001407685.1:c.4945+2T>A
NM_001407686.1:c.4945+2T>A
NM_001407687.1:c.4945+2T>A
NM_001407688.1:c.4945+2T>A
NM_001407689.1:c.4945+2T>A
NM_001407690.1:c.4942+2T>A
NM_001407691.1:c.4942+2T>A
NM_001407692.1:c.4933+2T>A
NM_001407694.1:c.4933+2T>A
NM_001407695.1:c.4933+2T>A
NM_001407696.1:c.4933+2T>A
NM_001407697.1:c.4933+2T>A
NM_001407698.1:c.4933+2T>A
NM_001407724.1:c.4933+2T>A
NM_001407725.1:c.4933+2T>A
NM_001407726.1:c.4933+2T>A
NM_001407727.1:c.4933+2T>A
NM_001407728.1:c.4933+2T>A
NM_001407729.1:c.4933+2T>A
NM_001407730.1:c.4933+2T>A
NM_001407731.1:c.4933+2T>A
NM_001407732.1:c.4930+2T>A
NM_001407733.1:c.4930+2T>A
NM_001407734.1:c.4930+2T>A
NM_001407735.1:c.4930+2T>A
NM_001407736.1:c.4930+2T>A
NM_001407737.1:c.4930+2T>A
NM_001407738.1:c.4930+2T>A
NM_001407739.1:c.4930+2T>A
NM_001407740.1:c.4930+2T>A
NM_001407741.1:c.4930+2T>A
NM_001407742.1:c.4930+2T>A
NM_001407743.1:c.4930+2T>A
NM_001407744.1:c.4930+2T>A
NM_001407745.1:c.4930+2T>A
NM_001407746.1:c.4930+2T>A
NM_001407747.1:c.4930+2T>A
NM_001407748.1:c.4930+2T>A
NM_001407749.1:c.4930+2T>A
NM_001407750.1:c.4930+2T>A
NM_001407751.1:c.4930+2T>A
NM_001407752.1:c.4930+2T>A
NM_001407838.1:c.4927+2T>A
NM_001407839.1:c.4927+2T>A
NM_001407841.1:c.4927+2T>A
NM_001407842.1:c.4927+2T>A
NM_001407843.1:c.4927+2T>A
NM_001407844.1:c.4927+2T>A
NM_001407845.1:c.4927+2T>A
NM_001407846.1:c.4927+2T>A
NM_001407847.1:c.4927+2T>A
NM_001407848.1:c.4927+2T>A
NM_001407849.1:c.4927+2T>A
NM_001407850.1:c.4927+2T>A
NM_001407851.1:c.4927+2T>A
NM_001407852.1:c.4927+2T>A
NM_001407853.1:c.4927+2T>A
NM_001407854.1:c.5074+2T>A
NM_001407858.1:c.5071+2T>A
NM_001407859.1:c.5071+2T>A
NM_001407860.1:c.5071+2T>A
NM_001407861.1:c.5068+2T>A
NM_001407862.1:c.4873+2T>A
NM_001407863.1:c.4948+2T>A
NM_001407874.1:c.4867+2T>A
NM_001407875.1:c.4867+2T>A
NM_001407879.1:c.4864+2T>A
NM_001407881.1:c.4864+2T>A
NM_001407882.1:c.4864+2T>A
NM_001407884.1:c.4864+2T>A
NM_001407885.1:c.4864+2T>A
NM_001407886.1:c.4864+2T>A
NM_001407887.1:c.4864+2T>A
NM_001407889.1:c.4864+2T>A
NM_001407894.1:c.4861+2T>A
NM_001407895.1:c.4861+2T>A
NM_001407896.1:c.4861+2T>A
NM_001407897.1:c.4861+2T>A
NM_001407898.1:c.4861+2T>A
NM_001407899.1:c.4861+2T>A
NM_001407900.1:c.4861+2T>A
NM_001407902.1:c.4861+2T>A
NM_001407904.1:c.4861+2T>A
NM_001407906.1:c.4861+2T>A
NM_001407907.1:c.4861+2T>A
NM_001407908.1:c.4861+2T>A
NM_001407909.1:c.4861+2T>A
NM_001407910.1:c.4861+2T>A
NM_001407915.1:c.4858+2T>A
NM_001407916.1:c.4858+2T>A
NM_001407917.1:c.4858+2T>A
NM_001407918.1:c.4858+2T>A
NM_001407919.1:c.4951+2T>A
NM_001407920.1:c.4810+2T>A
NM_001407921.1:c.4810+2T>A
NM_001407922.1:c.4810+2T>A
NM_001407923.1:c.4810+2T>A
NM_001407924.1:c.4810+2T>A
NM_001407925.1:c.4810+2T>A
NM_001407926.1:c.4810+2T>A
NM_001407927.1:c.4807+2T>A
NM_001407928.1:c.4807+2T>A
NM_001407929.1:c.4807+2T>A
NM_001407930.1:c.4807+2T>A
NM_001407931.1:c.4807+2T>A
NM_001407932.1:c.4807+2T>A
NM_001407933.1:c.4807+2T>A
NM_001407934.1:c.4804+2T>A
NM_001407935.1:c.4804+2T>A
NM_001407936.1:c.4804+2T>A
NM_001407937.1:c.4951+2T>A
NM_001407938.1:c.4951+2T>A
NM_001407939.1:c.4948+2T>A
NM_001407940.1:c.4948+2T>A
NM_001407941.1:c.4945+2T>A
NM_001407942.1:c.4933+2T>A
NM_001407943.1:c.4930+2T>A
NM_001407944.1:c.4930+2T>A
NM_001407945.1:c.4930+2T>A
NM_001407946.1:c.4741+2T>A
NM_001407947.1:c.4741+2T>A
NM_001407948.1:c.4741+2T>A
NM_001407949.1:c.4741+2T>A
NM_001407950.1:c.4738+2T>A
NM_001407951.1:c.4738+2T>A
NM_001407952.1:c.4738+2T>A
NM_001407953.1:c.4738+2T>A
NM_001407954.1:c.4738+2T>A
NM_001407955.1:c.4738+2T>A
NM_001407956.1:c.4735+2T>A
NM_001407957.1:c.4735+2T>A
NM_001407958.1:c.4735+2T>A
NM_001407959.1:c.4693+2T>A
NM_001407960.1:c.4690+2T>A
NM_001407962.1:c.4690+2T>A
NM_001407963.1:c.4687+2T>A
NM_001407964.1:c.4612+2T>A
NM_001407965.1:c.4567+2T>A
NM_001407966.1:c.4186+2T>A
NM_001407967.1:c.4183+2T>A
NM_001407968.1:c.2470+2T>A
NM_001407969.1:c.2467+2T>A
NM_001407970.1:c.1831+2T>A
NM_001407971.1:c.1831+2T>A
NM_001407972.1:c.1828+2T>A
NM_001407973.1:c.1765+2T>A
NM_001407974.1:c.1765+2T>A
NM_001407975.1:c.1765+2T>A
NM_001407976.1:c.1765+2T>A
NM_001407977.1:c.1765+2T>A
NM_001407978.1:c.1765+2T>A
NM_001407979.1:c.1762+2T>A
NM_001407980.1:c.1762+2T>A
NM_001407981.1:c.1762+2T>A
NM_001407982.1:c.1762+2T>A
NM_001407983.1:c.1762+2T>A
NM_001407984.1:c.1762+2T>A
NM_001407985.1:c.1762+2T>A
NM_001407986.1:c.1762+2T>A
NM_001407990.1:c.1762+2T>A
NM_001407991.1:c.1762+2T>A
NM_001407992.1:c.1762+2T>A
NM_001407993.1:c.1762+2T>A
NM_001408392.1:c.1759+2T>A
NM_001408396.1:c.1759+2T>A
NM_001408397.1:c.1759+2T>A
NM_001408398.1:c.1759+2T>A
NM_001408399.1:c.1759+2T>A
NM_001408400.1:c.1759+2T>A
NM_001408401.1:c.1759+2T>A
NM_001408402.1:c.1759+2T>A
NM_001408403.1:c.1759+2T>A
NM_001408404.1:c.1759+2T>A
NM_001408406.1:c.1756+2T>A
NM_001408407.1:c.1756+2T>A
NM_001408408.1:c.1756+2T>A
NM_001408409.1:c.1753+2T>A
NM_001408410.1:c.1690+2T>A
NM_001408411.1:c.1687+2T>A
NM_001408412.1:c.1684+2T>A
NM_001408413.1:c.1684+2T>A
NM_001408414.1:c.1684+2T>A
NM_001408415.1:c.1684+2T>A
NM_001408416.1:c.1684+2T>A
NM_001408418.1:c.1648+2T>A
NM_001408419.1:c.1648+2T>A
NM_001408420.1:c.1648+2T>A
NM_001408421.1:c.1645+2T>A
NM_001408422.1:c.1645+2T>A
NM_001408423.1:c.1645+2T>A
NM_001408424.1:c.1645+2T>A
NM_001408425.1:c.1642+2T>A
NM_001408426.1:c.1642+2T>A
NM_001408427.1:c.1642+2T>A
NM_001408428.1:c.1642+2T>A
NM_001408429.1:c.1642+2T>A
NM_001408430.1:c.1642+2T>A
NM_001408431.1:c.1642+2T>A
NM_001408432.1:c.1639+2T>A
NM_001408433.1:c.1639+2T>A
NM_001408434.1:c.1639+2T>A
NM_001408435.1:c.1639+2T>A
NM_001408436.1:c.1639+2T>A
NM_001408437.1:c.1639+2T>A
NM_001408438.1:c.1639+2T>A
NM_001408439.1:c.1639+2T>A
NM_001408440.1:c.1639+2T>A
NM_001408441.1:c.1639+2T>A
NM_001408442.1:c.1639+2T>A
NM_001408443.1:c.1639+2T>A
NM_001408444.1:c.1639+2T>A
NM_001408445.1:c.1636+2T>A
NM_001408446.1:c.1636+2T>A
NM_001408447.1:c.1636+2T>A
NM_001408448.1:c.1636+2T>A
NM_001408450.1:c.1636+2T>A
NM_001408451.1:c.1630+2T>A
NM_001408452.1:c.1624+2T>A
NM_001408453.1:c.1624+2T>A
NM_001408454.1:c.1624+2T>A
NM_001408455.1:c.1624+2T>A
NM_001408456.1:c.1624+2T>A
NM_001408457.1:c.1624+2T>A
NM_001408458.1:c.1621+2T>A
NM_001408459.1:c.1621+2T>A
NM_001408460.1:c.1621+2T>A
NM_001408461.1:c.1621+2T>A
NM_001408462.1:c.1621+2T>A
NM_001408463.1:c.1621+2T>A
NM_001408464.1:c.1621+2T>A
NM_001408465.1:c.1621+2T>A
NM_001408466.1:c.1621+2T>A
NM_001408467.1:c.1621+2T>A
NM_001408468.1:c.1618+2T>A
NM_001408469.1:c.1618+2T>A
NM_001408470.1:c.1618+2T>A
NM_001408472.1:c.1762+2T>A
NM_001408473.1:c.1759+2T>A
NM_001408474.1:c.1564+2T>A
NM_001408475.1:c.1561+2T>A
NM_001408476.1:c.1561+2T>A
NM_001408478.1:c.1555+2T>A
NM_001408479.1:c.1555+2T>A
NM_001408480.1:c.1555+2T>A
NM_001408481.1:c.1552+2T>A
NM_001408482.1:c.1552+2T>A
NM_001408483.1:c.1552+2T>A
NM_001408484.1:c.1552+2T>A
NM_001408485.1:c.1552+2T>A
NM_001408489.1:c.1552+2T>A
NM_001408490.1:c.1552+2T>A
NM_001408491.1:c.1552+2T>A
NM_001408492.1:c.1549+2T>A
NM_001408493.1:c.1549+2T>A
NM_001408494.1:c.1525+2T>A
NM_001408495.1:c.1519+2T>A
NM_001408496.1:c.1501+2T>A
NM_001408497.1:c.1501+2T>A
NM_001408498.1:c.1501+2T>A
NM_001408499.1:c.1501+2T>A
NM_001408500.1:c.1501+2T>A
NM_001408501.1:c.1501+2T>A
NM_001408502.1:c.1498+2T>A
NM_001408503.1:c.1498+2T>A
NM_001408504.1:c.1498+2T>A
NM_001408505.1:c.1495+2T>A
NM_001408506.1:c.1438+2T>A
NM_001408507.1:c.1435+2T>A
NM_001408508.1:c.1426+2T>A
NM_001408509.1:c.1423+2T>A
NM_001408510.1:c.1384+2T>A
NM_001408511.1:c.1381+2T>A
NM_001408512.1:c.1261+2T>A
NM_001408513.1:c.1234+2T>A
NM_001408514.1:c.839-3655T>A
NM_007294.4:c.5074+2T>AMANE SELECT
NM_007297.4:c.4933+2T>A
NM_007298.4:c.1762+2T>A
NM_007299.4:c.1762+2T>A
NM_007300.4:c.5137+2T>A
LRG_292t1:c.5074+2T>A
LRG_292:g.150378T>A
NC_000017.10:g.41219623A>T
NM_007294.3:c.5074+2T>A

Links:

dbSNP: rs80358089

NCBI 1000 Genomes Browser:

rs80358089

Molecular consequence:

NM_001408514.1:c.839-3655T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.5140+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.5140+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.5137+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.5137+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.5137+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.5134+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.5134+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.5065+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.5065+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.5062+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.5059+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.5017+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.5014+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.4996+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.4996+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.4996+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.4993+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.4993+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.4993+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.4990+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.4990+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.4990+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.4990+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.4990+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.4942+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.4942+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407692.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407698.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407726.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407732.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407736.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407738.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407742.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407744.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407747.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407750.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407751.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407845.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407849.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407852.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.4927+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.5071+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.5068+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.4873+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.4867+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.4867+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407881.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.4864+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407898.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407902.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.4861+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.4858+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.4858+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.4858+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.4858+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407924.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407925.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.4810+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407928.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407929.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407931.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407932.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.4807+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.4804+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.4804+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407936.1:c.4804+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.4951+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.4948+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.4945+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407945.1:c.4930+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.4741+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.4741+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.4741+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.4741+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.4738+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.4738+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.4738+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.4738+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.4738+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.4738+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.4735+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.4735+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.4735+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407959.1:c.4693+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.4690+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.4690+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407963.1:c.4687+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.4612+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.4567+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407966.1:c.4186+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407967.1:c.4183+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.2470+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.2467+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.1831+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.1831+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.1828+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.1765+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.1765+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.1765+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.1765+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.1765+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.1765+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.1756+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.1756+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.1756+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.1753+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.1690+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.1687+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.1684+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.1684+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.1684+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.1684+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.1684+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.1648+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.1648+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.1648+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.1645+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.1645+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.1645+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.1645+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.1642+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.1639+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.1636+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.1636+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.1636+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.1636+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.1636+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408451.1:c.1630+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.1624+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.1624+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408454.1:c.1624+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.1624+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.1624+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408457.1:c.1624+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408459.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408460.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408461.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408464.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408467.1:c.1621+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.1618+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.1618+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.1618+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.1759+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.1564+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.1561+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.1561+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.1555+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.1555+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.1555+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.1552+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.1549+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.1549+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.1525+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.1519+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408496.1:c.1501+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.1501+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408498.1:c.1501+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.1501+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.1501+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.1501+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.1498+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.1498+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.1498+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.1495+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.1438+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.1435+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.1426+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.1423+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.1384+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408511.1:c.1381+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.1261+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.1234+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.5074+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.4933+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.1762+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.5137+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000938580	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 15, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 17924331, 21990134, 31131967, 28975465, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000938580

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 15, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	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 (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000938580.4

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

Description

For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in abnormal splicing and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 17924331, 21990134, 31131967). ClinVar contains an entry for this variant (Variation ID: 644935). This variant is also known as c.5074+2A>T. Disruption of this splice site has been observed in individual(s) with breast cancer (PMID: 28975465). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 16 of the BRCA1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine