NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic/Likely pathogenic (5 submissions)
Last evaluated:: Feb 11, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000482921.18

Allele description

NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)

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.4675G>A (p.Glu1559Lys)

HGVS:

NC_000017.11:g.43074331C>T
NG_005905.2:g.143653G>A
NM_001407571.1:c.4462G>A
NM_001407581.1:c.4741G>A
NM_001407582.1:c.4741G>A
NM_001407583.1:c.4738G>A
NM_001407585.1:c.4738G>A
NM_001407587.1:c.4738G>A
NM_001407590.1:c.4735G>A
NM_001407591.1:c.4735G>A
NM_001407593.1:c.4675G>A
NM_001407594.1:c.4675G>A
NM_001407596.1:c.4675G>A
NM_001407597.1:c.4675G>A
NM_001407598.1:c.4675G>A
NM_001407602.1:c.4675G>A
NM_001407603.1:c.4675G>A
NM_001407605.1:c.4675G>A
NM_001407610.1:c.4672G>A
NM_001407611.1:c.4672G>A
NM_001407612.1:c.4672G>A
NM_001407613.1:c.4672G>A
NM_001407614.1:c.4672G>A
NM_001407615.1:c.4672G>A
NM_001407616.1:c.4672G>A
NM_001407617.1:c.4672G>A
NM_001407618.1:c.4672G>A
NM_001407619.1:c.4672G>A
NM_001407620.1:c.4672G>A
NM_001407621.1:c.4672G>A
NM_001407622.1:c.4672G>A
NM_001407623.1:c.4672G>A
NM_001407624.1:c.4672G>A
NM_001407625.1:c.4672G>A
NM_001407626.1:c.4672G>A
NM_001407627.1:c.4669G>A
NM_001407628.1:c.4669G>A
NM_001407629.1:c.4669G>A
NM_001407630.1:c.4669G>A
NM_001407631.1:c.4669G>A
NM_001407632.1:c.4669G>A
NM_001407633.1:c.4669G>A
NM_001407634.1:c.4669G>A
NM_001407635.1:c.4669G>A
NM_001407636.1:c.4669G>A
NM_001407637.1:c.4669G>A
NM_001407638.1:c.4669G>A
NM_001407639.1:c.4669G>A
NM_001407640.1:c.4669G>A
NM_001407641.1:c.4669G>A
NM_001407642.1:c.4669G>A
NM_001407644.1:c.4666G>A
NM_001407645.1:c.4666G>A
NM_001407646.1:c.4663G>A
NM_001407647.1:c.4660G>A
NM_001407648.1:c.4618G>A
NM_001407649.1:c.4615G>A
NM_001407652.1:c.4675G>A
NM_001407653.1:c.4597G>A
NM_001407654.1:c.4597G>A
NM_001407655.1:c.4597G>A
NM_001407656.1:c.4594G>A
NM_001407657.1:c.4594G>A
NM_001407658.1:c.4594G>A
NM_001407659.1:c.4591G>A
NM_001407660.1:c.4591G>A
NM_001407661.1:c.4591G>A
NM_001407662.1:c.4591G>A
NM_001407663.1:c.4591G>A
NM_001407664.1:c.4552G>A
NM_001407665.1:c.4552G>A
NM_001407666.1:c.4552G>A
NM_001407667.1:c.4552G>A
NM_001407668.1:c.4552G>A
NM_001407669.1:c.4552G>A
NM_001407670.1:c.4549G>A
NM_001407671.1:c.4549G>A
NM_001407672.1:c.4549G>A
NM_001407673.1:c.4549G>A
NM_001407674.1:c.4549G>A
NM_001407675.1:c.4549G>A
NM_001407676.1:c.4549G>A
NM_001407677.1:c.4549G>A
NM_001407678.1:c.4549G>A
NM_001407679.1:c.4549G>A
NM_001407680.1:c.4549G>A
NM_001407681.1:c.4546G>A
NM_001407682.1:c.4546G>A
NM_001407683.1:c.4546G>A
NM_001407684.1:c.4675G>A
NM_001407685.1:c.4546G>A
NM_001407686.1:c.4546G>A
NM_001407687.1:c.4546G>A
NM_001407688.1:c.4546G>A
NM_001407689.1:c.4546G>A
NM_001407690.1:c.4543G>A
NM_001407691.1:c.4543G>A
NM_001407692.1:c.4534G>A
NM_001407694.1:c.4534G>A
NM_001407695.1:c.4534G>A
NM_001407696.1:c.4534G>A
NM_001407697.1:c.4534G>A
NM_001407698.1:c.4534G>A
NM_001407724.1:c.4534G>A
NM_001407725.1:c.4534G>A
NM_001407726.1:c.4534G>A
NM_001407727.1:c.4534G>A
NM_001407728.1:c.4534G>A
NM_001407729.1:c.4534G>A
NM_001407730.1:c.4534G>A
NM_001407731.1:c.4534G>A
NM_001407732.1:c.4531G>A
NM_001407733.1:c.4531G>A
NM_001407734.1:c.4531G>A
NM_001407735.1:c.4531G>A
NM_001407736.1:c.4531G>A
NM_001407737.1:c.4531G>A
NM_001407738.1:c.4531G>A
NM_001407739.1:c.4531G>A
NM_001407740.1:c.4531G>A
NM_001407741.1:c.4531G>A
NM_001407742.1:c.4531G>A
NM_001407743.1:c.4531G>A
NM_001407744.1:c.4531G>A
NM_001407745.1:c.4531G>A
NM_001407746.1:c.4531G>A
NM_001407747.1:c.4531G>A
NM_001407748.1:c.4531G>A
NM_001407749.1:c.4531G>A
NM_001407750.1:c.4531G>A
NM_001407751.1:c.4531G>A
NM_001407752.1:c.4531G>A
NM_001407838.1:c.4528G>A
NM_001407839.1:c.4528G>A
NM_001407841.1:c.4528G>A
NM_001407842.1:c.4528G>A
NM_001407843.1:c.4528G>A
NM_001407844.1:c.4528G>A
NM_001407845.1:c.4528G>A
NM_001407846.1:c.4528G>A
NM_001407847.1:c.4528G>A
NM_001407848.1:c.4528G>A
NM_001407849.1:c.4528G>A
NM_001407850.1:c.4528G>A
NM_001407851.1:c.4528G>A
NM_001407852.1:c.4528G>A
NM_001407853.1:c.4528G>A
NM_001407854.1:c.4675G>A
NM_001407858.1:c.4672G>A
NM_001407859.1:c.4672G>A
NM_001407860.1:c.4672G>A
NM_001407861.1:c.4669G>A
NM_001407862.1:c.4474G>A
NM_001407863.1:c.4549G>A
NM_001407874.1:c.4468G>A
NM_001407875.1:c.4468G>A
NM_001407879.1:c.4465G>A
NM_001407881.1:c.4465G>A
NM_001407882.1:c.4465G>A
NM_001407884.1:c.4465G>A
NM_001407885.1:c.4465G>A
NM_001407886.1:c.4465G>A
NM_001407887.1:c.4465G>A
NM_001407889.1:c.4465G>A
NM_001407894.1:c.4462G>A
NM_001407895.1:c.4462G>A
NM_001407896.1:c.4462G>A
NM_001407897.1:c.4462G>A
NM_001407898.1:c.4462G>A
NM_001407899.1:c.4462G>A
NM_001407900.1:c.4462G>A
NM_001407902.1:c.4462G>A
NM_001407904.1:c.4462G>A
NM_001407906.1:c.4462G>A
NM_001407907.1:c.4462G>A
NM_001407908.1:c.4462G>A
NM_001407909.1:c.4462G>A
NM_001407910.1:c.4462G>A
NM_001407915.1:c.4459G>A
NM_001407916.1:c.4459G>A
NM_001407917.1:c.4459G>A
NM_001407918.1:c.4459G>A
NM_001407919.1:c.4552G>A
NM_001407920.1:c.4411G>A
NM_001407921.1:c.4411G>A
NM_001407922.1:c.4411G>A
NM_001407923.1:c.4411G>A
NM_001407924.1:c.4411G>A
NM_001407925.1:c.4411G>A
NM_001407926.1:c.4411G>A
NM_001407927.1:c.4408G>A
NM_001407928.1:c.4408G>A
NM_001407929.1:c.4408G>A
NM_001407930.1:c.4408G>A
NM_001407931.1:c.4408G>A
NM_001407932.1:c.4408G>A
NM_001407933.1:c.4408G>A
NM_001407934.1:c.4405G>A
NM_001407935.1:c.4405G>A
NM_001407936.1:c.4405G>A
NM_001407937.1:c.4552G>A
NM_001407938.1:c.4552G>A
NM_001407939.1:c.4549G>A
NM_001407940.1:c.4549G>A
NM_001407941.1:c.4546G>A
NM_001407942.1:c.4534G>A
NM_001407943.1:c.4531G>A
NM_001407944.1:c.4531G>A
NM_001407945.1:c.4531G>A
NM_001407946.1:c.4342G>A
NM_001407947.1:c.4342G>A
NM_001407948.1:c.4342G>A
NM_001407949.1:c.4342G>A
NM_001407950.1:c.4339G>A
NM_001407951.1:c.4339G>A
NM_001407952.1:c.4339G>A
NM_001407953.1:c.4339G>A
NM_001407954.1:c.4339G>A
NM_001407955.1:c.4339G>A
NM_001407956.1:c.4336G>A
NM_001407957.1:c.4336G>A
NM_001407958.1:c.4336G>A
NM_001407959.1:c.4294G>A
NM_001407960.1:c.4291G>A
NM_001407962.1:c.4291G>A
NM_001407963.1:c.4288G>A
NM_001407965.1:c.4168G>A
NM_001407966.1:c.3787G>A
NM_001407967.1:c.3784G>A
NM_001407968.1:c.2071G>A
NM_001407969.1:c.2068G>A
NM_001407970.1:c.1432G>A
NM_001407971.1:c.1432G>A
NM_001407972.1:c.1429G>A
NM_001407973.1:c.1366G>A
NM_001407974.1:c.1366G>A
NM_001407975.1:c.1366G>A
NM_001407976.1:c.1366G>A
NM_001407977.1:c.1366G>A
NM_001407978.1:c.1366G>A
NM_001407979.1:c.1363G>A
NM_001407980.1:c.1363G>A
NM_001407981.1:c.1363G>A
NM_001407982.1:c.1363G>A
NM_001407983.1:c.1363G>A
NM_001407984.1:c.1363G>A
NM_001407985.1:c.1363G>A
NM_001407986.1:c.1363G>A
NM_001407990.1:c.1363G>A
NM_001407991.1:c.1363G>A
NM_001407992.1:c.1363G>A
NM_001407993.1:c.1363G>A
NM_001408392.1:c.1360G>A
NM_001408396.1:c.1360G>A
NM_001408397.1:c.1360G>A
NM_001408398.1:c.1360G>A
NM_001408399.1:c.1360G>A
NM_001408400.1:c.1360G>A
NM_001408401.1:c.1360G>A
NM_001408402.1:c.1360G>A
NM_001408403.1:c.1360G>A
NM_001408404.1:c.1360G>A
NM_001408406.1:c.1357G>A
NM_001408407.1:c.1357G>A
NM_001408408.1:c.1357G>A
NM_001408409.1:c.1354G>A
NM_001408410.1:c.1291G>A
NM_001408411.1:c.1288G>A
NM_001408412.1:c.1285G>A
NM_001408413.1:c.1285G>A
NM_001408414.1:c.1285G>A
NM_001408415.1:c.1285G>A
NM_001408416.1:c.1285G>A
NM_001408418.1:c.1249G>A
NM_001408419.1:c.1249G>A
NM_001408420.1:c.1249G>A
NM_001408421.1:c.1246G>A
NM_001408422.1:c.1246G>A
NM_001408423.1:c.1246G>A
NM_001408424.1:c.1246G>A
NM_001408425.1:c.1243G>A
NM_001408426.1:c.1243G>A
NM_001408427.1:c.1243G>A
NM_001408428.1:c.1243G>A
NM_001408429.1:c.1243G>A
NM_001408430.1:c.1243G>A
NM_001408431.1:c.1243G>A
NM_001408432.1:c.1240G>A
NM_001408433.1:c.1240G>A
NM_001408434.1:c.1240G>A
NM_001408435.1:c.1240G>A
NM_001408436.1:c.1240G>A
NM_001408437.1:c.1240G>A
NM_001408438.1:c.1240G>A
NM_001408439.1:c.1240G>A
NM_001408440.1:c.1240G>A
NM_001408441.1:c.1240G>A
NM_001408442.1:c.1240G>A
NM_001408443.1:c.1240G>A
NM_001408444.1:c.1240G>A
NM_001408445.1:c.1237G>A
NM_001408446.1:c.1237G>A
NM_001408447.1:c.1237G>A
NM_001408448.1:c.1237G>A
NM_001408450.1:c.1237G>A
NM_001408451.1:c.1231G>A
NM_001408452.1:c.1225G>A
NM_001408453.1:c.1225G>A
NM_001408454.1:c.1225G>A
NM_001408455.1:c.1225G>A
NM_001408456.1:c.1225G>A
NM_001408457.1:c.1225G>A
NM_001408458.1:c.1222G>A
NM_001408459.1:c.1222G>A
NM_001408460.1:c.1222G>A
NM_001408461.1:c.1222G>A
NM_001408462.1:c.1222G>A
NM_001408463.1:c.1222G>A
NM_001408464.1:c.1222G>A
NM_001408465.1:c.1222G>A
NM_001408466.1:c.1222G>A
NM_001408467.1:c.1222G>A
NM_001408468.1:c.1219G>A
NM_001408469.1:c.1219G>A
NM_001408470.1:c.1219G>A
NM_001408472.1:c.1363G>A
NM_001408473.1:c.1360G>A
NM_001408474.1:c.1165G>A
NM_001408475.1:c.1162G>A
NM_001408476.1:c.1162G>A
NM_001408478.1:c.1156G>A
NM_001408479.1:c.1156G>A
NM_001408480.1:c.1156G>A
NM_001408481.1:c.1153G>A
NM_001408482.1:c.1153G>A
NM_001408483.1:c.1153G>A
NM_001408484.1:c.1153G>A
NM_001408485.1:c.1153G>A
NM_001408489.1:c.1153G>A
NM_001408490.1:c.1153G>A
NM_001408491.1:c.1153G>A
NM_001408492.1:c.1150G>A
NM_001408493.1:c.1150G>A
NM_001408494.1:c.1126G>A
NM_001408495.1:c.1120G>A
NM_001408496.1:c.1102G>A
NM_001408497.1:c.1102G>A
NM_001408498.1:c.1102G>A
NM_001408499.1:c.1102G>A
NM_001408500.1:c.1102G>A
NM_001408501.1:c.1102G>A
NM_001408502.1:c.1099G>A
NM_001408503.1:c.1099G>A
NM_001408504.1:c.1099G>A
NM_001408505.1:c.1096G>A
NM_001408506.1:c.1039G>A
NM_001408507.1:c.1036G>A
NM_001408508.1:c.1027G>A
NM_001408509.1:c.1024G>A
NM_001408510.1:c.985G>A
NM_001408511.1:c.982G>A
NM_001408512.1:c.862G>A
NM_007294.4:c.4675G>AMANE SELECT
NM_007297.4:c.4534G>A
NM_007298.4:c.1363G>A
NM_007299.4:c.1363G>A
NM_007300.4:c.4738G>A
NM_007304.2:c.1363G>A
NP_001394500.1:p.Glu1488Lys
NP_001394510.1:p.Glu1581Lys
NP_001394511.1:p.Glu1581Lys
NP_001394512.1:p.Glu1580Lys
NP_001394514.1:p.Glu1580Lys
NP_001394516.1:p.Glu1580Lys
NP_001394519.1:p.Glu1579Lys
NP_001394520.1:p.Glu1579Lys
NP_001394522.1:p.Glu1559Lys
NP_001394523.1:p.Glu1559Lys
NP_001394525.1:p.Glu1559Lys
NP_001394526.1:p.Glu1559Lys
NP_001394527.1:p.Glu1559Lys
NP_001394531.1:p.Glu1559Lys
NP_001394532.1:p.Glu1559Lys
NP_001394534.1:p.Glu1559Lys
NP_001394539.1:p.Glu1558Lys
NP_001394540.1:p.Glu1558Lys
NP_001394541.1:p.Glu1558Lys
NP_001394542.1:p.Glu1558Lys
NP_001394543.1:p.Glu1558Lys
NP_001394544.1:p.Glu1558Lys
NP_001394545.1:p.Glu1558Lys
NP_001394546.1:p.Glu1558Lys
NP_001394547.1:p.Glu1558Lys
NP_001394548.1:p.Glu1558Lys
NP_001394549.1:p.Glu1558Lys
NP_001394550.1:p.Glu1558Lys
NP_001394551.1:p.Glu1558Lys
NP_001394552.1:p.Glu1558Lys
NP_001394553.1:p.Glu1558Lys
NP_001394554.1:p.Glu1558Lys
NP_001394555.1:p.Glu1558Lys
NP_001394556.1:p.Glu1557Lys
NP_001394557.1:p.Glu1557Lys
NP_001394558.1:p.Glu1557Lys
NP_001394559.1:p.Glu1557Lys
NP_001394560.1:p.Glu1557Lys
NP_001394561.1:p.Glu1557Lys
NP_001394562.1:p.Glu1557Lys
NP_001394563.1:p.Glu1557Lys
NP_001394564.1:p.Glu1557Lys
NP_001394565.1:p.Glu1557Lys
NP_001394566.1:p.Glu1557Lys
NP_001394567.1:p.Glu1557Lys
NP_001394568.1:p.Glu1557Lys
NP_001394569.1:p.Glu1557Lys
NP_001394570.1:p.Glu1557Lys
NP_001394571.1:p.Glu1557Lys
NP_001394573.1:p.Glu1556Lys
NP_001394574.1:p.Glu1556Lys
NP_001394575.1:p.Glu1555Lys
NP_001394576.1:p.Glu1554Lys
NP_001394577.1:p.Glu1540Lys
NP_001394578.1:p.Glu1539Lys
NP_001394581.1:p.Glu1559Lys
NP_001394582.1:p.Glu1533Lys
NP_001394583.1:p.Glu1533Lys
NP_001394584.1:p.Glu1533Lys
NP_001394585.1:p.Glu1532Lys
NP_001394586.1:p.Glu1532Lys
NP_001394587.1:p.Glu1532Lys
NP_001394588.1:p.Glu1531Lys
NP_001394589.1:p.Glu1531Lys
NP_001394590.1:p.Glu1531Lys
NP_001394591.1:p.Glu1531Lys
NP_001394592.1:p.Glu1531Lys
NP_001394593.1:p.Glu1518Lys
NP_001394594.1:p.Glu1518Lys
NP_001394595.1:p.Glu1518Lys
NP_001394596.1:p.Glu1518Lys
NP_001394597.1:p.Glu1518Lys
NP_001394598.1:p.Glu1518Lys
NP_001394599.1:p.Glu1517Lys
NP_001394600.1:p.Glu1517Lys
NP_001394601.1:p.Glu1517Lys
NP_001394602.1:p.Glu1517Lys
NP_001394603.1:p.Glu1517Lys
NP_001394604.1:p.Glu1517Lys
NP_001394605.1:p.Glu1517Lys
NP_001394606.1:p.Glu1517Lys
NP_001394607.1:p.Glu1517Lys
NP_001394608.1:p.Glu1517Lys
NP_001394609.1:p.Glu1517Lys
NP_001394610.1:p.Glu1516Lys
NP_001394611.1:p.Glu1516Lys
NP_001394612.1:p.Glu1516Lys
NP_001394613.1:p.Glu1559Lys
NP_001394614.1:p.Glu1516Lys
NP_001394615.1:p.Glu1516Lys
NP_001394616.1:p.Glu1516Lys
NP_001394617.1:p.Glu1516Lys
NP_001394618.1:p.Glu1516Lys
NP_001394619.1:p.Glu1515Lys
NP_001394620.1:p.Glu1515Lys
NP_001394621.1:p.Glu1512Lys
NP_001394623.1:p.Glu1512Lys
NP_001394624.1:p.Glu1512Lys
NP_001394625.1:p.Glu1512Lys
NP_001394626.1:p.Glu1512Lys
NP_001394627.1:p.Glu1512Lys
NP_001394653.1:p.Glu1512Lys
NP_001394654.1:p.Glu1512Lys
NP_001394655.1:p.Glu1512Lys
NP_001394656.1:p.Glu1512Lys
NP_001394657.1:p.Glu1512Lys
NP_001394658.1:p.Glu1512Lys
NP_001394659.1:p.Glu1512Lys
NP_001394660.1:p.Glu1512Lys
NP_001394661.1:p.Glu1511Lys
NP_001394662.1:p.Glu1511Lys
NP_001394663.1:p.Glu1511Lys
NP_001394664.1:p.Glu1511Lys
NP_001394665.1:p.Glu1511Lys
NP_001394666.1:p.Glu1511Lys
NP_001394667.1:p.Glu1511Lys
NP_001394668.1:p.Glu1511Lys
NP_001394669.1:p.Glu1511Lys
NP_001394670.1:p.Glu1511Lys
NP_001394671.1:p.Glu1511Lys
NP_001394672.1:p.Glu1511Lys
NP_001394673.1:p.Glu1511Lys
NP_001394674.1:p.Glu1511Lys
NP_001394675.1:p.Glu1511Lys
NP_001394676.1:p.Glu1511Lys
NP_001394677.1:p.Glu1511Lys
NP_001394678.1:p.Glu1511Lys
NP_001394679.1:p.Glu1511Lys
NP_001394680.1:p.Glu1511Lys
NP_001394681.1:p.Glu1511Lys
NP_001394767.1:p.Glu1510Lys
NP_001394768.1:p.Glu1510Lys
NP_001394770.1:p.Glu1510Lys
NP_001394771.1:p.Glu1510Lys
NP_001394772.1:p.Glu1510Lys
NP_001394773.1:p.Glu1510Lys
NP_001394774.1:p.Glu1510Lys
NP_001394775.1:p.Glu1510Lys
NP_001394776.1:p.Glu1510Lys
NP_001394777.1:p.Glu1510Lys
NP_001394778.1:p.Glu1510Lys
NP_001394779.1:p.Glu1510Lys
NP_001394780.1:p.Glu1510Lys
NP_001394781.1:p.Glu1510Lys
NP_001394782.1:p.Glu1510Lys
NP_001394783.1:p.Glu1559Lys
NP_001394787.1:p.Glu1558Lys
NP_001394788.1:p.Glu1558Lys
NP_001394789.1:p.Glu1558Lys
NP_001394790.1:p.Glu1557Lys
NP_001394791.1:p.Glu1492Lys
NP_001394792.1:p.Glu1517Lys
NP_001394803.1:p.Glu1490Lys
NP_001394804.1:p.Glu1490Lys
NP_001394808.1:p.Glu1489Lys
NP_001394810.1:p.Glu1489Lys
NP_001394811.1:p.Glu1489Lys
NP_001394813.1:p.Glu1489Lys
NP_001394814.1:p.Glu1489Lys
NP_001394815.1:p.Glu1489Lys
NP_001394816.1:p.Glu1489Lys
NP_001394818.1:p.Glu1489Lys
NP_001394823.1:p.Glu1488Lys
NP_001394824.1:p.Glu1488Lys
NP_001394825.1:p.Glu1488Lys
NP_001394826.1:p.Glu1488Lys
NP_001394827.1:p.Glu1488Lys
NP_001394828.1:p.Glu1488Lys
NP_001394829.1:p.Glu1488Lys
NP_001394831.1:p.Glu1488Lys
NP_001394833.1:p.Glu1488Lys
NP_001394835.1:p.Glu1488Lys
NP_001394836.1:p.Glu1488Lys
NP_001394837.1:p.Glu1488Lys
NP_001394838.1:p.Glu1488Lys
NP_001394839.1:p.Glu1488Lys
NP_001394844.1:p.Glu1487Lys
NP_001394845.1:p.Glu1487Lys
NP_001394846.1:p.Glu1487Lys
NP_001394847.1:p.Glu1487Lys
NP_001394848.1:p.Glu1518Lys
NP_001394849.1:p.Glu1471Lys
NP_001394850.1:p.Glu1471Lys
NP_001394851.1:p.Glu1471Lys
NP_001394852.1:p.Glu1471Lys
NP_001394853.1:p.Glu1471Lys
NP_001394854.1:p.Glu1471Lys
NP_001394855.1:p.Glu1471Lys
NP_001394856.1:p.Glu1470Lys
NP_001394857.1:p.Glu1470Lys
NP_001394858.1:p.Glu1470Lys
NP_001394859.1:p.Glu1470Lys
NP_001394860.1:p.Glu1470Lys
NP_001394861.1:p.Glu1470Lys
NP_001394862.1:p.Glu1470Lys
NP_001394863.1:p.Glu1469Lys
NP_001394864.1:p.Glu1469Lys
NP_001394865.1:p.Glu1469Lys
NP_001394866.1:p.Glu1518Lys
NP_001394867.1:p.Glu1518Lys
NP_001394868.1:p.Glu1517Lys
NP_001394869.1:p.Glu1517Lys
NP_001394870.1:p.Glu1516Lys
NP_001394871.1:p.Glu1512Lys
NP_001394872.1:p.Glu1511Lys
NP_001394873.1:p.Glu1511Lys
NP_001394874.1:p.Glu1511Lys
NP_001394875.1:p.Glu1448Lys
NP_001394876.1:p.Glu1448Lys
NP_001394877.1:p.Glu1448Lys
NP_001394878.1:p.Glu1448Lys
NP_001394879.1:p.Glu1447Lys
NP_001394880.1:p.Glu1447Lys
NP_001394881.1:p.Glu1447Lys
NP_001394882.1:p.Glu1447Lys
NP_001394883.1:p.Glu1447Lys
NP_001394884.1:p.Glu1447Lys
NP_001394885.1:p.Glu1446Lys
NP_001394886.1:p.Glu1446Lys
NP_001394887.1:p.Glu1446Lys
NP_001394888.1:p.Glu1432Lys
NP_001394889.1:p.Glu1431Lys
NP_001394891.1:p.Glu1431Lys
NP_001394892.1:p.Glu1430Lys
NP_001394894.1:p.Glu1390Lys
NP_001394895.1:p.Glu1263Lys
NP_001394896.1:p.Glu1262Lys
NP_001394897.1:p.Glu691Lys
NP_001394898.1:p.Glu690Lys
NP_001394899.1:p.Glu478Lys
NP_001394900.1:p.Glu478Lys
NP_001394901.1:p.Glu477Lys
NP_001394902.1:p.Glu456Lys
NP_001394903.1:p.Glu456Lys
NP_001394904.1:p.Glu456Lys
NP_001394905.1:p.Glu456Lys
NP_001394906.1:p.Glu456Lys
NP_001394907.1:p.Glu456Lys
NP_001394908.1:p.Glu455Lys
NP_001394909.1:p.Glu455Lys
NP_001394910.1:p.Glu455Lys
NP_001394911.1:p.Glu455Lys
NP_001394912.1:p.Glu455Lys
NP_001394913.1:p.Glu455Lys
NP_001394914.1:p.Glu455Lys
NP_001394915.1:p.Glu455Lys
NP_001394919.1:p.Glu455Lys
NP_001394920.1:p.Glu455Lys
NP_001394921.1:p.Glu455Lys
NP_001394922.1:p.Glu455Lys
NP_001395321.1:p.Glu454Lys
NP_001395325.1:p.Glu454Lys
NP_001395326.1:p.Glu454Lys
NP_001395327.1:p.Glu454Lys
NP_001395328.1:p.Glu454Lys
NP_001395329.1:p.Glu454Lys
NP_001395330.1:p.Glu454Lys
NP_001395331.1:p.Glu454Lys
NP_001395332.1:p.Glu454Lys
NP_001395333.1:p.Glu454Lys
NP_001395335.1:p.Glu453Lys
NP_001395336.1:p.Glu453Lys
NP_001395337.1:p.Glu453Lys
NP_001395338.1:p.Glu452Lys
NP_001395339.1:p.Glu431Lys
NP_001395340.1:p.Glu430Lys
NP_001395341.1:p.Glu429Lys
NP_001395342.1:p.Glu429Lys
NP_001395343.1:p.Glu429Lys
NP_001395344.1:p.Glu429Lys
NP_001395345.1:p.Glu429Lys
NP_001395347.1:p.Glu417Lys
NP_001395348.1:p.Glu417Lys
NP_001395349.1:p.Glu417Lys
NP_001395350.1:p.Glu416Lys
NP_001395351.1:p.Glu416Lys
NP_001395352.1:p.Glu416Lys
NP_001395353.1:p.Glu416Lys
NP_001395354.1:p.Glu415Lys
NP_001395355.1:p.Glu415Lys
NP_001395356.1:p.Glu415Lys
NP_001395357.1:p.Glu415Lys
NP_001395358.1:p.Glu415Lys
NP_001395359.1:p.Glu415Lys
NP_001395360.1:p.Glu415Lys
NP_001395361.1:p.Glu414Lys
NP_001395362.1:p.Glu414Lys
NP_001395363.1:p.Glu414Lys
NP_001395364.1:p.Glu414Lys
NP_001395365.1:p.Glu414Lys
NP_001395366.1:p.Glu414Lys
NP_001395367.1:p.Glu414Lys
NP_001395368.1:p.Glu414Lys
NP_001395369.1:p.Glu414Lys
NP_001395370.1:p.Glu414Lys
NP_001395371.1:p.Glu414Lys
NP_001395372.1:p.Glu414Lys
NP_001395373.1:p.Glu414Lys
NP_001395374.1:p.Glu413Lys
NP_001395375.1:p.Glu413Lys
NP_001395376.1:p.Glu413Lys
NP_001395377.1:p.Glu413Lys
NP_001395379.1:p.Glu413Lys
NP_001395380.1:p.Glu411Lys
NP_001395381.1:p.Glu409Lys
NP_001395382.1:p.Glu409Lys
NP_001395383.1:p.Glu409Lys
NP_001395384.1:p.Glu409Lys
NP_001395385.1:p.Glu409Lys
NP_001395386.1:p.Glu409Lys
NP_001395387.1:p.Glu408Lys
NP_001395388.1:p.Glu408Lys
NP_001395389.1:p.Glu408Lys
NP_001395390.1:p.Glu408Lys
NP_001395391.1:p.Glu408Lys
NP_001395392.1:p.Glu408Lys
NP_001395393.1:p.Glu408Lys
NP_001395394.1:p.Glu408Lys
NP_001395395.1:p.Glu408Lys
NP_001395396.1:p.Glu408Lys
NP_001395397.1:p.Glu407Lys
NP_001395398.1:p.Glu407Lys
NP_001395399.1:p.Glu407Lys
NP_001395401.1:p.Glu455Lys
NP_001395402.1:p.Glu454Lys
NP_001395403.1:p.Glu389Lys
NP_001395404.1:p.Glu388Lys
NP_001395405.1:p.Glu388Lys
NP_001395407.1:p.Glu386Lys
NP_001395408.1:p.Glu386Lys
NP_001395409.1:p.Glu386Lys
NP_001395410.1:p.Glu385Lys
NP_001395411.1:p.Glu385Lys
NP_001395412.1:p.Glu385Lys
NP_001395413.1:p.Glu385Lys
NP_001395414.1:p.Glu385Lys
NP_001395418.1:p.Glu385Lys
NP_001395419.1:p.Glu385Lys
NP_001395420.1:p.Glu385Lys
NP_001395421.1:p.Glu384Lys
NP_001395422.1:p.Glu384Lys
NP_001395423.1:p.Glu376Lys
NP_001395424.1:p.Glu374Lys
NP_001395425.1:p.Glu368Lys
NP_001395426.1:p.Glu368Lys
NP_001395427.1:p.Glu368Lys
NP_001395428.1:p.Glu368Lys
NP_001395429.1:p.Glu368Lys
NP_001395430.1:p.Glu368Lys
NP_001395431.1:p.Glu367Lys
NP_001395432.1:p.Glu367Lys
NP_001395433.1:p.Glu367Lys
NP_001395434.1:p.Glu366Lys
NP_001395435.1:p.Glu347Lys
NP_001395436.1:p.Glu346Lys
NP_001395437.1:p.Glu343Lys
NP_001395438.1:p.Glu342Lys
NP_001395439.1:p.Glu329Lys
NP_001395440.1:p.Glu328Lys
NP_001395441.1:p.Glu288Lys
NP_009225.1:p.Glu1559Lys
NP_009225.1:p.Glu1559Lys
NP_009228.2:p.Glu1512Lys
NP_009229.2:p.Glu455Lys
NP_009229.2:p.Glu455Lys
NP_009230.2:p.Glu455Lys
NP_009231.2:p.Glu1580Lys
NP_009235.2:p.Glu455Lys
LRG_292t1:c.4675G>A
LRG_292:g.143653G>A
LRG_292p1:p.Glu1559Lys
NC_000017.10:g.41226348C>T
NM_007294.3:c.4675G>A
NM_007298.3:c.1363G>A
NR_027676.2:n.4852G>A
U14680.1:n.4794G>A
p.E1559K

Nucleotide change:

4794G>A

Protein change:

E1262K

Links:

dbSNP: rs80356988

NCBI 1000 Genomes Browser:

rs80356988

Molecular consequence:

NM_001407571.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4741G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4741G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4735G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4666G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4666G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4663G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4660G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.4618G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.4615G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4597G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4594G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4594G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4594G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4591G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4543G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4543G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4528G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4672G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4669G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4474G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4468G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4468G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4465G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4459G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4405G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4405G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4405G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4549G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4342G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4339G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4336G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4294G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4291G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4291G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4168G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3784G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1429G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1291G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1249G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1249G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1249G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1243G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1240G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1231G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1222G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1219G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1360G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1165G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1162G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1156G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1156G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1156G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1120G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1096G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1039G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4675G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1363G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.4852G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens fidgetin like 1 (FIGNL1), transcript variant 1, mRNA
Homo sapiens fidgetin like 1 (FIGNL1), transcript variant 1, mRNA
gi|566559905|ref|NM_001042762.2|

Nucleotide
Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA
Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA
gi|169881265|ref|NM_004132.3|

Nucleotide
natriuretic peptides A precursor [Bos taurus]
natriuretic peptides A precursor [Bos taurus]
gi|27806521|ref|NP_776549.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000564744	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Feb 28, 2015)	germline	clinical testing	Citation Link,
SCV001133595	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Feb 11, 2019)	unknown	clinical testing	PubMed (16) [See all records that cite these PMIDs] 28781887, 29752822, 30765603, 31143303, 31825140, 32341426, 33087888, 23239986, 25066507, 24797986, 29446198, 25859162, 29797126, 30441849, 29202330, 26467025
SCV001449936	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 13, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001740740	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001959345	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely pathogenic	germline	clinical testing

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]

PMID:: 28781887
PMCID:: PMC5539989

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.

Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, et al.

Int J Cancer. 2019 Jan 15;144(2):281-289. doi: 10.1002/ijc.31601. Epub 2018 Nov 8.

PubMed [citation]

PMID:: 29752822

See all PubMed Citations (17)

Details of each submission

From GeneDx, SCV000564744.3

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

Description

This variant is denoted BRCA1 c.4675G>A at the cDNA level. Using alternate nomenclature, this variant has been previously published as BRCA1 4794G>A. Located in last nucleotide of exon 14, multiple splicing models predict that this variant destroys the natural splice donor site for intron 14 and causes abnormal splicing. BRCA1 c.4675G>A has been reported in at least three individuals with ovarian cancer (Wappenschmidt 2012, Janavicius 2014, Tihomirova 2014). In addition, RNA analysis suggested that this variant results in partial loss of the natural splice donor site and activation of a cryptic splice donor site (Wappenschmidt 2012). Although the nucleotide substitution results in the change of a Glutamic Acid to a Lysine at codon 1559, and is called Glu1559Lys in the literature, we are using only the nucleotide nomenclature to refer to the mutation since the defect is mainly due to abnormal splicing rather than a resulting missense pathogenic variant. BRCA1 c.4675G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 4675, is conserved across species. Based on the current evidence, we consider this mutation to be a likely pathogenic variant.

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133595.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (16)

Description

This variant has been reported as pathogenic in multiple individuals and families with breast and/or ovarian cancer in the published literature (PMID: 30441849 (2018), 29797126 (2018), 29446198 (2018), 25066507 (2014), 24797986 (2014), 23239986 (2012)). The frequency of this variant in the general population, 0.000065 (1/15422 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. This variant occurs at the last nucleotide of exon 14 and functional analysis indicates that it interferes with normal RNA splicing in vitro (PMID: 23239986 (2012)). Based on the available information, this variant is classified as pathogenic.

#	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 Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449936.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001740740.3

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001959345.1

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

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

Last Updated: Sep 8, 2024

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