NM_007294.4(BRCA1):c.5074+2T>C AND Breast-ovarian cancer, familial, susceptibility to, 1

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

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

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

Record status:: current
Accession:: RCV000031212.21

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

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

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>C

HGVS:

NC_000017.11:g.43067606A>G
NG_005905.2:g.150378T>C
NM_001407571.1:c.4861+2T>C
NM_001407581.1:c.5140+2T>C
NM_001407582.1:c.5140+2T>C
NM_001407583.1:c.5137+2T>C
NM_001407585.1:c.5137+2T>C
NM_001407587.1:c.5137+2T>C
NM_001407590.1:c.5134+2T>C
NM_001407591.1:c.5134+2T>C
NM_001407593.1:c.5074+2T>C
NM_001407594.1:c.5074+2T>C
NM_001407596.1:c.5074+2T>C
NM_001407597.1:c.5074+2T>C
NM_001407598.1:c.5074+2T>C
NM_001407602.1:c.5074+2T>C
NM_001407603.1:c.5074+2T>C
NM_001407605.1:c.5074+2T>C
NM_001407610.1:c.5071+2T>C
NM_001407611.1:c.5071+2T>C
NM_001407612.1:c.5071+2T>C
NM_001407613.1:c.5071+2T>C
NM_001407614.1:c.5071+2T>C
NM_001407615.1:c.5071+2T>C
NM_001407616.1:c.5071+2T>C
NM_001407617.1:c.5071+2T>C
NM_001407618.1:c.5071+2T>C
NM_001407619.1:c.5071+2T>C
NM_001407620.1:c.5071+2T>C
NM_001407621.1:c.5071+2T>C
NM_001407622.1:c.5071+2T>C
NM_001407623.1:c.5071+2T>C
NM_001407624.1:c.5071+2T>C
NM_001407625.1:c.5071+2T>C
NM_001407626.1:c.5071+2T>C
NM_001407627.1:c.5068+2T>C
NM_001407628.1:c.5068+2T>C
NM_001407629.1:c.5068+2T>C
NM_001407630.1:c.5068+2T>C
NM_001407631.1:c.5068+2T>C
NM_001407632.1:c.5068+2T>C
NM_001407633.1:c.5068+2T>C
NM_001407634.1:c.5068+2T>C
NM_001407635.1:c.5068+2T>C
NM_001407636.1:c.5068+2T>C
NM_001407637.1:c.5068+2T>C
NM_001407638.1:c.5068+2T>C
NM_001407639.1:c.5068+2T>C
NM_001407640.1:c.5068+2T>C
NM_001407641.1:c.5068+2T>C
NM_001407642.1:c.5068+2T>C
NM_001407644.1:c.5065+2T>C
NM_001407645.1:c.5065+2T>C
NM_001407646.1:c.5062+2T>C
NM_001407647.1:c.5059+2T>C
NM_001407648.1:c.5017+2T>C
NM_001407649.1:c.5014+2T>C
NM_001407652.1:c.5074+2T>C
NM_001407653.1:c.4996+2T>C
NM_001407654.1:c.4996+2T>C
NM_001407655.1:c.4996+2T>C
NM_001407656.1:c.4993+2T>C
NM_001407657.1:c.4993+2T>C
NM_001407658.1:c.4993+2T>C
NM_001407659.1:c.4990+2T>C
NM_001407660.1:c.4990+2T>C
NM_001407661.1:c.4990+2T>C
NM_001407662.1:c.4990+2T>C
NM_001407663.1:c.4990+2T>C
NM_001407664.1:c.4951+2T>C
NM_001407665.1:c.4951+2T>C
NM_001407666.1:c.4951+2T>C
NM_001407667.1:c.4951+2T>C
NM_001407668.1:c.4951+2T>C
NM_001407669.1:c.4951+2T>C
NM_001407670.1:c.4948+2T>C
NM_001407671.1:c.4948+2T>C
NM_001407672.1:c.4948+2T>C
NM_001407673.1:c.4948+2T>C
NM_001407674.1:c.4948+2T>C
NM_001407675.1:c.4948+2T>C
NM_001407676.1:c.4948+2T>C
NM_001407677.1:c.4948+2T>C
NM_001407678.1:c.4948+2T>C
NM_001407679.1:c.4948+2T>C
NM_001407680.1:c.4948+2T>C
NM_001407681.1:c.4945+2T>C
NM_001407682.1:c.4945+2T>C
NM_001407683.1:c.4945+2T>C
NM_001407684.1:c.5074+2T>C
NM_001407685.1:c.4945+2T>C
NM_001407686.1:c.4945+2T>C
NM_001407687.1:c.4945+2T>C
NM_001407688.1:c.4945+2T>C
NM_001407689.1:c.4945+2T>C
NM_001407690.1:c.4942+2T>C
NM_001407691.1:c.4942+2T>C
NM_001407692.1:c.4933+2T>C
NM_001407694.1:c.4933+2T>C
NM_001407695.1:c.4933+2T>C
NM_001407696.1:c.4933+2T>C
NM_001407697.1:c.4933+2T>C
NM_001407698.1:c.4933+2T>C
NM_001407724.1:c.4933+2T>C
NM_001407725.1:c.4933+2T>C
NM_001407726.1:c.4933+2T>C
NM_001407727.1:c.4933+2T>C
NM_001407728.1:c.4933+2T>C
NM_001407729.1:c.4933+2T>C
NM_001407730.1:c.4933+2T>C
NM_001407731.1:c.4933+2T>C
NM_001407732.1:c.4930+2T>C
NM_001407733.1:c.4930+2T>C
NM_001407734.1:c.4930+2T>C
NM_001407735.1:c.4930+2T>C
NM_001407736.1:c.4930+2T>C
NM_001407737.1:c.4930+2T>C
NM_001407738.1:c.4930+2T>C
NM_001407739.1:c.4930+2T>C
NM_001407740.1:c.4930+2T>C
NM_001407741.1:c.4930+2T>C
NM_001407742.1:c.4930+2T>C
NM_001407743.1:c.4930+2T>C
NM_001407744.1:c.4930+2T>C
NM_001407745.1:c.4930+2T>C
NM_001407746.1:c.4930+2T>C
NM_001407747.1:c.4930+2T>C
NM_001407748.1:c.4930+2T>C
NM_001407749.1:c.4930+2T>C
NM_001407750.1:c.4930+2T>C
NM_001407751.1:c.4930+2T>C
NM_001407752.1:c.4930+2T>C
NM_001407838.1:c.4927+2T>C
NM_001407839.1:c.4927+2T>C
NM_001407841.1:c.4927+2T>C
NM_001407842.1:c.4927+2T>C
NM_001407843.1:c.4927+2T>C
NM_001407844.1:c.4927+2T>C
NM_001407845.1:c.4927+2T>C
NM_001407846.1:c.4927+2T>C
NM_001407847.1:c.4927+2T>C
NM_001407848.1:c.4927+2T>C
NM_001407849.1:c.4927+2T>C
NM_001407850.1:c.4927+2T>C
NM_001407851.1:c.4927+2T>C
NM_001407852.1:c.4927+2T>C
NM_001407853.1:c.4927+2T>C
NM_001407854.1:c.5074+2T>C
NM_001407858.1:c.5071+2T>C
NM_001407859.1:c.5071+2T>C
NM_001407860.1:c.5071+2T>C
NM_001407861.1:c.5068+2T>C
NM_001407862.1:c.4873+2T>C
NM_001407863.1:c.4948+2T>C
NM_001407874.1:c.4867+2T>C
NM_001407875.1:c.4867+2T>C
NM_001407879.1:c.4864+2T>C
NM_001407881.1:c.4864+2T>C
NM_001407882.1:c.4864+2T>C
NM_001407884.1:c.4864+2T>C
NM_001407885.1:c.4864+2T>C
NM_001407886.1:c.4864+2T>C
NM_001407887.1:c.4864+2T>C
NM_001407889.1:c.4864+2T>C
NM_001407894.1:c.4861+2T>C
NM_001407895.1:c.4861+2T>C
NM_001407896.1:c.4861+2T>C
NM_001407897.1:c.4861+2T>C
NM_001407898.1:c.4861+2T>C
NM_001407899.1:c.4861+2T>C
NM_001407900.1:c.4861+2T>C
NM_001407902.1:c.4861+2T>C
NM_001407904.1:c.4861+2T>C
NM_001407906.1:c.4861+2T>C
NM_001407907.1:c.4861+2T>C
NM_001407908.1:c.4861+2T>C
NM_001407909.1:c.4861+2T>C
NM_001407910.1:c.4861+2T>C
NM_001407915.1:c.4858+2T>C
NM_001407916.1:c.4858+2T>C
NM_001407917.1:c.4858+2T>C
NM_001407918.1:c.4858+2T>C
NM_001407919.1:c.4951+2T>C
NM_001407920.1:c.4810+2T>C
NM_001407921.1:c.4810+2T>C
NM_001407922.1:c.4810+2T>C
NM_001407923.1:c.4810+2T>C
NM_001407924.1:c.4810+2T>C
NM_001407925.1:c.4810+2T>C
NM_001407926.1:c.4810+2T>C
NM_001407927.1:c.4807+2T>C
NM_001407928.1:c.4807+2T>C
NM_001407929.1:c.4807+2T>C
NM_001407930.1:c.4807+2T>C
NM_001407931.1:c.4807+2T>C
NM_001407932.1:c.4807+2T>C
NM_001407933.1:c.4807+2T>C
NM_001407934.1:c.4804+2T>C
NM_001407935.1:c.4804+2T>C
NM_001407936.1:c.4804+2T>C
NM_001407937.1:c.4951+2T>C
NM_001407938.1:c.4951+2T>C
NM_001407939.1:c.4948+2T>C
NM_001407940.1:c.4948+2T>C
NM_001407941.1:c.4945+2T>C
NM_001407942.1:c.4933+2T>C
NM_001407943.1:c.4930+2T>C
NM_001407944.1:c.4930+2T>C
NM_001407945.1:c.4930+2T>C
NM_001407946.1:c.4741+2T>C
NM_001407947.1:c.4741+2T>C
NM_001407948.1:c.4741+2T>C
NM_001407949.1:c.4741+2T>C
NM_001407950.1:c.4738+2T>C
NM_001407951.1:c.4738+2T>C
NM_001407952.1:c.4738+2T>C
NM_001407953.1:c.4738+2T>C
NM_001407954.1:c.4738+2T>C
NM_001407955.1:c.4738+2T>C
NM_001407956.1:c.4735+2T>C
NM_001407957.1:c.4735+2T>C
NM_001407958.1:c.4735+2T>C
NM_001407959.1:c.4693+2T>C
NM_001407960.1:c.4690+2T>C
NM_001407962.1:c.4690+2T>C
NM_001407963.1:c.4687+2T>C
NM_001407964.1:c.4612+2T>C
NM_001407965.1:c.4567+2T>C
NM_001407966.1:c.4186+2T>C
NM_001407967.1:c.4183+2T>C
NM_001407968.1:c.2470+2T>C
NM_001407969.1:c.2467+2T>C
NM_001407970.1:c.1831+2T>C
NM_001407971.1:c.1831+2T>C
NM_001407972.1:c.1828+2T>C
NM_001407973.1:c.1765+2T>C
NM_001407974.1:c.1765+2T>C
NM_001407975.1:c.1765+2T>C
NM_001407976.1:c.1765+2T>C
NM_001407977.1:c.1765+2T>C
NM_001407978.1:c.1765+2T>C
NM_001407979.1:c.1762+2T>C
NM_001407980.1:c.1762+2T>C
NM_001407981.1:c.1762+2T>C
NM_001407982.1:c.1762+2T>C
NM_001407983.1:c.1762+2T>C
NM_001407984.1:c.1762+2T>C
NM_001407985.1:c.1762+2T>C
NM_001407986.1:c.1762+2T>C
NM_001407990.1:c.1762+2T>C
NM_001407991.1:c.1762+2T>C
NM_001407992.1:c.1762+2T>C
NM_001407993.1:c.1762+2T>C
NM_001408392.1:c.1759+2T>C
NM_001408396.1:c.1759+2T>C
NM_001408397.1:c.1759+2T>C
NM_001408398.1:c.1759+2T>C
NM_001408399.1:c.1759+2T>C
NM_001408400.1:c.1759+2T>C
NM_001408401.1:c.1759+2T>C
NM_001408402.1:c.1759+2T>C
NM_001408403.1:c.1759+2T>C
NM_001408404.1:c.1759+2T>C
NM_001408406.1:c.1756+2T>C
NM_001408407.1:c.1756+2T>C
NM_001408408.1:c.1756+2T>C
NM_001408409.1:c.1753+2T>C
NM_001408410.1:c.1690+2T>C
NM_001408411.1:c.1687+2T>C
NM_001408412.1:c.1684+2T>C
NM_001408413.1:c.1684+2T>C
NM_001408414.1:c.1684+2T>C
NM_001408415.1:c.1684+2T>C
NM_001408416.1:c.1684+2T>C
NM_001408418.1:c.1648+2T>C
NM_001408419.1:c.1648+2T>C
NM_001408420.1:c.1648+2T>C
NM_001408421.1:c.1645+2T>C
NM_001408422.1:c.1645+2T>C
NM_001408423.1:c.1645+2T>C
NM_001408424.1:c.1645+2T>C
NM_001408425.1:c.1642+2T>C
NM_001408426.1:c.1642+2T>C
NM_001408427.1:c.1642+2T>C
NM_001408428.1:c.1642+2T>C
NM_001408429.1:c.1642+2T>C
NM_001408430.1:c.1642+2T>C
NM_001408431.1:c.1642+2T>C
NM_001408432.1:c.1639+2T>C
NM_001408433.1:c.1639+2T>C
NM_001408434.1:c.1639+2T>C
NM_001408435.1:c.1639+2T>C
NM_001408436.1:c.1639+2T>C
NM_001408437.1:c.1639+2T>C
NM_001408438.1:c.1639+2T>C
NM_001408439.1:c.1639+2T>C
NM_001408440.1:c.1639+2T>C
NM_001408441.1:c.1639+2T>C
NM_001408442.1:c.1639+2T>C
NM_001408443.1:c.1639+2T>C
NM_001408444.1:c.1639+2T>C
NM_001408445.1:c.1636+2T>C
NM_001408446.1:c.1636+2T>C
NM_001408447.1:c.1636+2T>C
NM_001408448.1:c.1636+2T>C
NM_001408450.1:c.1636+2T>C
NM_001408451.1:c.1630+2T>C
NM_001408452.1:c.1624+2T>C
NM_001408453.1:c.1624+2T>C
NM_001408454.1:c.1624+2T>C
NM_001408455.1:c.1624+2T>C
NM_001408456.1:c.1624+2T>C
NM_001408457.1:c.1624+2T>C
NM_001408458.1:c.1621+2T>C
NM_001408459.1:c.1621+2T>C
NM_001408460.1:c.1621+2T>C
NM_001408461.1:c.1621+2T>C
NM_001408462.1:c.1621+2T>C
NM_001408463.1:c.1621+2T>C
NM_001408464.1:c.1621+2T>C
NM_001408465.1:c.1621+2T>C
NM_001408466.1:c.1621+2T>C
NM_001408467.1:c.1621+2T>C
NM_001408468.1:c.1618+2T>C
NM_001408469.1:c.1618+2T>C
NM_001408470.1:c.1618+2T>C
NM_001408472.1:c.1762+2T>C
NM_001408473.1:c.1759+2T>C
NM_001408474.1:c.1564+2T>C
NM_001408475.1:c.1561+2T>C
NM_001408476.1:c.1561+2T>C
NM_001408478.1:c.1555+2T>C
NM_001408479.1:c.1555+2T>C
NM_001408480.1:c.1555+2T>C
NM_001408481.1:c.1552+2T>C
NM_001408482.1:c.1552+2T>C
NM_001408483.1:c.1552+2T>C
NM_001408484.1:c.1552+2T>C
NM_001408485.1:c.1552+2T>C
NM_001408489.1:c.1552+2T>C
NM_001408490.1:c.1552+2T>C
NM_001408491.1:c.1552+2T>C
NM_001408492.1:c.1549+2T>C
NM_001408493.1:c.1549+2T>C
NM_001408494.1:c.1525+2T>C
NM_001408495.1:c.1519+2T>C
NM_001408496.1:c.1501+2T>C
NM_001408497.1:c.1501+2T>C
NM_001408498.1:c.1501+2T>C
NM_001408499.1:c.1501+2T>C
NM_001408500.1:c.1501+2T>C
NM_001408501.1:c.1501+2T>C
NM_001408502.1:c.1498+2T>C
NM_001408503.1:c.1498+2T>C
NM_001408504.1:c.1498+2T>C
NM_001408505.1:c.1495+2T>C
NM_001408506.1:c.1438+2T>C
NM_001408507.1:c.1435+2T>C
NM_001408508.1:c.1426+2T>C
NM_001408509.1:c.1423+2T>C
NM_001408510.1:c.1384+2T>C
NM_001408511.1:c.1381+2T>C
NM_001408512.1:c.1261+2T>C
NM_001408513.1:c.1234+2T>C
NM_001408514.1:c.839-3655T>C
NM_007294.4:c.5074+2T>CMANE SELECT
NM_007297.4:c.4933+2T>C
NM_007298.4:c.1762+2T>C
NM_007299.4:c.1762+2T>C
NM_007300.4:c.5137+2T>C
LRG_292t1:c.5074+2T>C
LRG_292:g.150378T>C
NC_000017.10:g.41219623A>G
NM_007294.3:c.5074+2T>C
U14680.1:n.5193+2T>C

Nucleotide change:

IVS17+2T>C

Links:

Breast Cancer Information Core (BIC) (BRCA1): 5193+2&base_change=T to C; dbSNP: rs80358089

NCBI 1000 Genomes Browser:

rs80358089

Molecular consequence:

NM_001408514.1:c.839-3655T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407581.1:c.5140+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407582.1:c.5140+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407583.1:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407585.1:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407587.1:c.5137+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407590.1:c.5134+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407591.1:c.5134+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407593.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407594.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407596.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407597.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407598.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407602.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407603.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407605.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407610.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407611.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407612.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407613.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407614.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407615.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407616.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407617.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407618.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407619.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407620.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407621.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407622.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407623.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407624.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407625.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407626.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407627.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407628.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407629.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407630.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407631.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407632.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407633.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407634.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407635.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407636.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407637.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407638.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407639.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407640.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407641.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407642.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407644.1:c.5065+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407645.1:c.5065+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407646.1:c.5062+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407647.1:c.5059+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407648.1:c.5017+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407649.1:c.5014+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407652.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407653.1:c.4996+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407654.1:c.4996+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407655.1:c.4996+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407656.1:c.4993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407657.1:c.4993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407658.1:c.4993+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407659.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407660.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407661.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407662.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407663.1:c.4990+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407664.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407665.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407666.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407667.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407668.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407669.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407670.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407671.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407672.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407673.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407674.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407675.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407676.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407677.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407678.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407679.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407680.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407681.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407682.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407683.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407684.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407685.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407686.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407687.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407688.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407689.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407690.1:c.4942+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407691.1:c.4942+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407692.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407694.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407695.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407696.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407697.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407698.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407724.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407725.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407726.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407727.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407728.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407729.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407730.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407731.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407732.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407733.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407734.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407735.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407736.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407737.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407738.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407739.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407740.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407741.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407742.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407743.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407744.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407745.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407746.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407747.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407748.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407749.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407750.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407751.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407752.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407838.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407839.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407841.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407842.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407843.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407844.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407845.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407846.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407847.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407848.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407849.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407850.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407851.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407852.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407853.1:c.4927+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407854.1:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407858.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407859.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407860.1:c.5071+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407861.1:c.5068+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407862.1:c.4873+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407863.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407874.1:c.4867+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407875.1:c.4867+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407879.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407881.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407882.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407884.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407885.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407886.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407887.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407889.1:c.4864+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407894.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407895.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407896.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407897.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407898.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407899.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407900.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407902.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407904.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407906.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407907.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407908.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407909.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407910.1:c.4861+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407915.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407916.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407917.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407918.1:c.4858+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407919.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407920.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407921.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407922.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407923.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407924.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407925.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407926.1:c.4810+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407927.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407928.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407929.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407930.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407931.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407932.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407933.1:c.4807+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407934.1:c.4804+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407935.1:c.4804+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407936.1:c.4804+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407937.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407938.1:c.4951+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407939.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407940.1:c.4948+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407941.1:c.4945+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407942.1:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407943.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407944.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407945.1:c.4930+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407946.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407947.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407948.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407949.1:c.4741+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407950.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407951.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407952.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407953.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407954.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407955.1:c.4738+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407956.1:c.4735+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407957.1:c.4735+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407958.1:c.4735+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407959.1:c.4693+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407960.1:c.4690+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407962.1:c.4690+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407963.1:c.4687+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407964.1:c.4612+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407965.1:c.4567+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407966.1:c.4186+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407967.1:c.4183+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407968.1:c.2470+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407969.1:c.2467+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407970.1:c.1831+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407971.1:c.1831+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407972.1:c.1828+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407973.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407974.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407975.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407976.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407977.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407978.1:c.1765+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407979.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407980.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407981.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407982.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407983.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407984.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407985.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407986.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407990.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407991.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407992.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407993.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408392.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408396.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408397.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408398.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408399.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408400.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408401.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408402.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408403.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408404.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408406.1:c.1756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408407.1:c.1756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408408.1:c.1756+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408409.1:c.1753+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408410.1:c.1690+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408411.1:c.1687+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408412.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408413.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408414.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408415.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408416.1:c.1684+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408418.1:c.1648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408419.1:c.1648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408420.1:c.1648+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408421.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408422.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408423.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408424.1:c.1645+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408425.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408426.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408427.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408428.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408429.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408430.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408431.1:c.1642+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408432.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408433.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408434.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408435.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408436.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408437.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408438.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408439.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408440.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408441.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408442.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408443.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408444.1:c.1639+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408445.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408446.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408447.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408448.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408450.1:c.1636+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408451.1:c.1630+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408452.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408453.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408454.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408455.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408456.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408457.1:c.1624+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408458.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408459.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408460.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408461.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408462.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408463.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408464.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408465.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408466.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408467.1:c.1621+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408468.1:c.1618+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408469.1:c.1618+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408470.1:c.1618+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408472.1:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408473.1:c.1759+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408474.1:c.1564+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408475.1:c.1561+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408476.1:c.1561+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408478.1:c.1555+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408479.1:c.1555+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408480.1:c.1555+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408481.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408482.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408483.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408484.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408485.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408489.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408490.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408491.1:c.1552+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408492.1:c.1549+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408493.1:c.1549+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408494.1:c.1525+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408495.1:c.1519+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408496.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408497.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408498.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408499.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408500.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408501.1:c.1501+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408502.1:c.1498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408503.1:c.1498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408504.1:c.1498+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408505.1:c.1495+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408506.1:c.1438+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408507.1:c.1435+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408508.1:c.1426+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408509.1:c.1423+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408510.1:c.1384+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408511.1:c.1381+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408512.1:c.1261+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001408513.1:c.1234+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007294.4:c.5074+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007297.4:c.4933+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007298.4:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007299.4:c.1762+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_007300.4:c.5137+2T>C - 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
SCV000053812	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Mar 6, 2009)	germline	clinical testing
SCV000145290	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000326134	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,
SCV000564328	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 1, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001140493	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001161641	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Pathogenic (Jun 18, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001237537	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,
SCV002512515	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004215175	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 31, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.

Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.

PubMed [citation]

PMID:: 31131967
PMCID:: PMC6772163

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

See all PubMed Citations (3)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053812.3

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

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

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145290.1

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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000326134.4

#	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	1	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564328.1

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

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

From Mendelics, SCV001140493.1

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

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161641.2

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.999563

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

From Brotman Baty Institute, University of Washington, SCV001237537.1

#	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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512515.1

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

Description

ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate

#	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, SCV004215175.1

#	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

Last Updated: May 1, 2024

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