NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Jun 29, 2017
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:: RCV000495392.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)]

NM_007294.4(BRCA1):c.1866G>A (p.Ala622=)

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.1866G>A (p.Ala622=)

Other names:

p.A622A:GCG>GCA

HGVS:

NC_000017.11:g.43093665C>T
NG_005905.2:g.124319G>A
NM_001407571.1:c.1653G>A
NM_001407581.1:c.1866G>A
NM_001407582.1:c.1866G>A
NM_001407583.1:c.1866G>A
NM_001407585.1:c.1866G>A
NM_001407587.1:c.1863G>A
NM_001407590.1:c.1863G>A
NM_001407591.1:c.1863G>A
NM_001407593.1:c.1866G>A
NM_001407594.1:c.1866G>A
NM_001407596.1:c.1866G>A
NM_001407597.1:c.1866G>A
NM_001407598.1:c.1866G>A
NM_001407602.1:c.1866G>A
NM_001407603.1:c.1866G>A
NM_001407605.1:c.1866G>A
NM_001407610.1:c.1863G>A
NM_001407611.1:c.1863G>A
NM_001407612.1:c.1863G>A
NM_001407613.1:c.1863G>A
NM_001407614.1:c.1863G>A
NM_001407615.1:c.1863G>A
NM_001407616.1:c.1866G>A
NM_001407617.1:c.1866G>A
NM_001407618.1:c.1866G>A
NM_001407619.1:c.1866G>A
NM_001407620.1:c.1866G>A
NM_001407621.1:c.1866G>A
NM_001407622.1:c.1866G>A
NM_001407623.1:c.1866G>A
NM_001407624.1:c.1866G>A
NM_001407625.1:c.1866G>A
NM_001407626.1:c.1866G>A
NM_001407627.1:c.1863G>A
NM_001407628.1:c.1863G>A
NM_001407629.1:c.1863G>A
NM_001407630.1:c.1863G>A
NM_001407631.1:c.1863G>A
NM_001407632.1:c.1863G>A
NM_001407633.1:c.1863G>A
NM_001407634.1:c.1863G>A
NM_001407635.1:c.1863G>A
NM_001407636.1:c.1863G>A
NM_001407637.1:c.1863G>A
NM_001407638.1:c.1863G>A
NM_001407639.1:c.1866G>A
NM_001407640.1:c.1866G>A
NM_001407641.1:c.1866G>A
NM_001407642.1:c.1866G>A
NM_001407644.1:c.1863G>A
NM_001407645.1:c.1863G>A
NM_001407646.1:c.1857G>A
NM_001407647.1:c.1857G>A
NM_001407648.1:c.1743G>A
NM_001407649.1:c.1740G>A
NM_001407652.1:c.1866G>A
NM_001407653.1:c.1788G>A
NM_001407654.1:c.1788G>A
NM_001407655.1:c.1788G>A
NM_001407656.1:c.1788G>A
NM_001407657.1:c.1788G>A
NM_001407658.1:c.1788G>A
NM_001407659.1:c.1785G>A
NM_001407660.1:c.1785G>A
NM_001407661.1:c.1785G>A
NM_001407662.1:c.1785G>A
NM_001407663.1:c.1788G>A
NM_001407664.1:c.1743G>A
NM_001407665.1:c.1743G>A
NM_001407666.1:c.1743G>A
NM_001407667.1:c.1743G>A
NM_001407668.1:c.1743G>A
NM_001407669.1:c.1743G>A
NM_001407670.1:c.1740G>A
NM_001407671.1:c.1740G>A
NM_001407672.1:c.1740G>A
NM_001407673.1:c.1740G>A
NM_001407674.1:c.1743G>A
NM_001407675.1:c.1743G>A
NM_001407676.1:c.1743G>A
NM_001407677.1:c.1743G>A
NM_001407678.1:c.1743G>A
NM_001407679.1:c.1743G>A
NM_001407680.1:c.1743G>A
NM_001407681.1:c.1743G>A
NM_001407682.1:c.1743G>A
NM_001407683.1:c.1743G>A
NM_001407684.1:c.1866G>A
NM_001407685.1:c.1740G>A
NM_001407686.1:c.1740G>A
NM_001407687.1:c.1740G>A
NM_001407688.1:c.1740G>A
NM_001407689.1:c.1740G>A
NM_001407690.1:c.1740G>A
NM_001407691.1:c.1740G>A
NM_001407692.1:c.1725G>A
NM_001407694.1:c.1725G>A
NM_001407695.1:c.1725G>A
NM_001407696.1:c.1725G>A
NM_001407697.1:c.1725G>A
NM_001407698.1:c.1725G>A
NM_001407724.1:c.1725G>A
NM_001407725.1:c.1725G>A
NM_001407726.1:c.1725G>A
NM_001407727.1:c.1725G>A
NM_001407728.1:c.1725G>A
NM_001407729.1:c.1725G>A
NM_001407730.1:c.1725G>A
NM_001407731.1:c.1725G>A
NM_001407732.1:c.1725G>A
NM_001407733.1:c.1725G>A
NM_001407734.1:c.1725G>A
NM_001407735.1:c.1725G>A
NM_001407736.1:c.1725G>A
NM_001407737.1:c.1725G>A
NM_001407738.1:c.1725G>A
NM_001407739.1:c.1725G>A
NM_001407740.1:c.1722G>A
NM_001407741.1:c.1722G>A
NM_001407742.1:c.1722G>A
NM_001407743.1:c.1722G>A
NM_001407744.1:c.1722G>A
NM_001407745.1:c.1722G>A
NM_001407746.1:c.1722G>A
NM_001407747.1:c.1722G>A
NM_001407748.1:c.1722G>A
NM_001407749.1:c.1722G>A
NM_001407750.1:c.1725G>A
NM_001407751.1:c.1725G>A
NM_001407752.1:c.1725G>A
NM_001407838.1:c.1722G>A
NM_001407839.1:c.1722G>A
NM_001407841.1:c.1722G>A
NM_001407842.1:c.1722G>A
NM_001407843.1:c.1722G>A
NM_001407844.1:c.1722G>A
NM_001407845.1:c.1722G>A
NM_001407846.1:c.1722G>A
NM_001407847.1:c.1722G>A
NM_001407848.1:c.1722G>A
NM_001407849.1:c.1722G>A
NM_001407850.1:c.1725G>A
NM_001407851.1:c.1725G>A
NM_001407852.1:c.1725G>A
NM_001407853.1:c.1653G>A
NM_001407854.1:c.1866G>A
NM_001407858.1:c.1866G>A
NM_001407859.1:c.1866G>A
NM_001407860.1:c.1863G>A
NM_001407861.1:c.1863G>A
NM_001407862.1:c.1665G>A
NM_001407863.1:c.1743G>A
NM_001407874.1:c.1662G>A
NM_001407875.1:c.1662G>A
NM_001407879.1:c.1656G>A
NM_001407881.1:c.1656G>A
NM_001407882.1:c.1656G>A
NM_001407884.1:c.1656G>A
NM_001407885.1:c.1656G>A
NM_001407886.1:c.1656G>A
NM_001407887.1:c.1656G>A
NM_001407889.1:c.1656G>A
NM_001407894.1:c.1653G>A
NM_001407895.1:c.1653G>A
NM_001407896.1:c.1653G>A
NM_001407897.1:c.1653G>A
NM_001407898.1:c.1653G>A
NM_001407899.1:c.1653G>A
NM_001407900.1:c.1656G>A
NM_001407902.1:c.1656G>A
NM_001407904.1:c.1656G>A
NM_001407906.1:c.1656G>A
NM_001407907.1:c.1656G>A
NM_001407908.1:c.1656G>A
NM_001407909.1:c.1656G>A
NM_001407910.1:c.1656G>A
NM_001407915.1:c.1653G>A
NM_001407916.1:c.1653G>A
NM_001407917.1:c.1653G>A
NM_001407918.1:c.1653G>A
NM_001407919.1:c.1743G>A
NM_001407920.1:c.1602G>A
NM_001407921.1:c.1602G>A
NM_001407922.1:c.1602G>A
NM_001407923.1:c.1602G>A
NM_001407924.1:c.1602G>A
NM_001407925.1:c.1602G>A
NM_001407926.1:c.1602G>A
NM_001407927.1:c.1602G>A
NM_001407928.1:c.1602G>A
NM_001407929.1:c.1602G>A
NM_001407930.1:c.1599G>A
NM_001407931.1:c.1599G>A
NM_001407932.1:c.1599G>A
NM_001407933.1:c.1602G>A
NM_001407934.1:c.1599G>A
NM_001407935.1:c.1602G>A
NM_001407936.1:c.1599G>A
NM_001407937.1:c.1743G>A
NM_001407938.1:c.1743G>A
NM_001407939.1:c.1743G>A
NM_001407940.1:c.1740G>A
NM_001407941.1:c.1740G>A
NM_001407942.1:c.1725G>A
NM_001407943.1:c.1722G>A
NM_001407944.1:c.1725G>A
NM_001407945.1:c.1725G>A
NM_001407946.1:c.1533G>A
NM_001407947.1:c.1533G>A
NM_001407948.1:c.1533G>A
NM_001407949.1:c.1533G>A
NM_001407950.1:c.1533G>A
NM_001407951.1:c.1533G>A
NM_001407952.1:c.1533G>A
NM_001407953.1:c.1533G>A
NM_001407954.1:c.1530G>A
NM_001407955.1:c.1530G>A
NM_001407956.1:c.1530G>A
NM_001407957.1:c.1533G>A
NM_001407958.1:c.1530G>A
NM_001407959.1:c.1485G>A
NM_001407960.1:c.1485G>A
NM_001407962.1:c.1482G>A
NM_001407963.1:c.1485G>A
NM_001407964.1:c.1722G>A
NM_001407965.1:c.1362G>A
NM_001407966.1:c.978G>A
NM_001407967.1:c.978G>A
NM_001407968.1:c.787+1079G>A
NM_001407969.1:c.787+1079G>A
NM_001407970.1:c.787+1079G>A
NM_001407971.1:c.787+1079G>A
NM_001407972.1:c.784+1079G>A
NM_001407973.1:c.787+1079G>A
NM_001407974.1:c.787+1079G>A
NM_001407975.1:c.787+1079G>A
NM_001407976.1:c.787+1079G>A
NM_001407977.1:c.787+1079G>A
NM_001407978.1:c.787+1079G>A
NM_001407979.1:c.787+1079G>A
NM_001407980.1:c.787+1079G>A
NM_001407981.1:c.787+1079G>A
NM_001407982.1:c.787+1079G>A
NM_001407983.1:c.787+1079G>A
NM_001407984.1:c.784+1079G>A
NM_001407985.1:c.784+1079G>A
NM_001407986.1:c.784+1079G>A
NM_001407990.1:c.787+1079G>A
NM_001407991.1:c.784+1079G>A
NM_001407992.1:c.784+1079G>A
NM_001407993.1:c.787+1079G>A
NM_001408392.1:c.784+1079G>A
NM_001408396.1:c.784+1079G>A
NM_001408397.1:c.784+1079G>A
NM_001408398.1:c.784+1079G>A
NM_001408399.1:c.784+1079G>A
NM_001408400.1:c.784+1079G>A
NM_001408401.1:c.784+1079G>A
NM_001408402.1:c.784+1079G>A
NM_001408403.1:c.787+1079G>A
NM_001408404.1:c.787+1079G>A
NM_001408406.1:c.790+1076G>A
NM_001408407.1:c.784+1079G>A
NM_001408408.1:c.778+1079G>A
NM_001408409.1:c.709+1079G>A
NM_001408410.1:c.646+1079G>A
NM_001408411.1:c.709+1079G>A
NM_001408412.1:c.709+1079G>A
NM_001408413.1:c.706+1079G>A
NM_001408414.1:c.709+1079G>A
NM_001408415.1:c.709+1079G>A
NM_001408416.1:c.706+1079G>A
NM_001408418.1:c.670+2181G>A
NM_001408419.1:c.670+2181G>A
NM_001408420.1:c.670+2181G>A
NM_001408421.1:c.667+2181G>A
NM_001408422.1:c.670+2181G>A
NM_001408423.1:c.670+2181G>A
NM_001408424.1:c.667+2181G>A
NM_001408425.1:c.664+1079G>A
NM_001408426.1:c.664+1079G>A
NM_001408427.1:c.664+1079G>A
NM_001408428.1:c.664+1079G>A
NM_001408429.1:c.664+1079G>A
NM_001408430.1:c.664+1079G>A
NM_001408431.1:c.667+2181G>A
NM_001408432.1:c.661+1079G>A
NM_001408433.1:c.661+1079G>A
NM_001408434.1:c.661+1079G>A
NM_001408435.1:c.661+1079G>A
NM_001408436.1:c.664+1079G>A
NM_001408437.1:c.664+1079G>A
NM_001408438.1:c.664+1079G>A
NM_001408439.1:c.664+1079G>A
NM_001408440.1:c.664+1079G>A
NM_001408441.1:c.664+1079G>A
NM_001408442.1:c.664+1079G>A
NM_001408443.1:c.664+1079G>A
NM_001408444.1:c.664+1079G>A
NM_001408445.1:c.661+1079G>A
NM_001408446.1:c.661+1079G>A
NM_001408447.1:c.661+1079G>A
NM_001408448.1:c.661+1079G>A
NM_001408450.1:c.661+1079G>A
NM_001408451.1:c.652+1079G>A
NM_001408452.1:c.646+1079G>A
NM_001408453.1:c.646+1079G>A
NM_001408454.1:c.646+1079G>A
NM_001408455.1:c.646+1079G>A
NM_001408456.1:c.646+1079G>A
NM_001408457.1:c.646+1079G>A
NM_001408458.1:c.646+1079G>A
NM_001408459.1:c.646+1079G>A
NM_001408460.1:c.646+1079G>A
NM_001408461.1:c.646+1079G>A
NM_001408462.1:c.643+1079G>A
NM_001408463.1:c.643+1079G>A
NM_001408464.1:c.643+1079G>A
NM_001408465.1:c.643+1079G>A
NM_001408466.1:c.646+1079G>A
NM_001408467.1:c.646+1079G>A
NM_001408468.1:c.643+1079G>A
NM_001408469.1:c.646+1079G>A
NM_001408470.1:c.643+1079G>A
NM_001408472.1:c.787+1079G>A
NM_001408473.1:c.784+1079G>A
NM_001408474.1:c.586+1079G>A
NM_001408475.1:c.583+1079G>A
NM_001408476.1:c.586+1079G>A
NM_001408478.1:c.577+1079G>A
NM_001408479.1:c.577+1079G>A
NM_001408480.1:c.577+1079G>A
NM_001408481.1:c.577+1079G>A
NM_001408482.1:c.577+1079G>A
NM_001408483.1:c.577+1079G>A
NM_001408484.1:c.577+1079G>A
NM_001408485.1:c.577+1079G>A
NM_001408489.1:c.577+1079G>A
NM_001408490.1:c.574+1079G>A
NM_001408491.1:c.574+1079G>A
NM_001408492.1:c.577+1079G>A
NM_001408493.1:c.574+1079G>A
NM_001408494.1:c.548-2633G>A
NM_001408495.1:c.545-2633G>A
NM_001408496.1:c.523+1079G>A
NM_001408497.1:c.523+1079G>A
NM_001408498.1:c.523+1079G>A
NM_001408499.1:c.523+1079G>A
NM_001408500.1:c.523+1079G>A
NM_001408501.1:c.523+1079G>A
NM_001408502.1:c.454+1079G>A
NM_001408503.1:c.520+1079G>A
NM_001408504.1:c.520+1079G>A
NM_001408505.1:c.520+1079G>A
NM_001408506.1:c.460+2181G>A
NM_001408507.1:c.460+2181G>A
NM_001408508.1:c.451+1079G>A
NM_001408509.1:c.451+1079G>A
NM_001408510.1:c.406+1079G>A
NM_001408511.1:c.404-2633G>A
NM_001408512.1:c.283+1079G>A
NM_001408513.1:c.577+1079G>A
NM_001408514.1:c.577+1079G>A
NM_007294.4:c.1866G>AMANE SELECT
NM_007297.4:c.1725G>A
NM_007298.4:c.787+1079G>A
NM_007299.4:c.787+1079G>A
NM_007300.3:c.1866G>A
NM_007300.4:c.1866G>A
NP_001394500.1:p.Ala551=
NP_001394510.1:p.Ala622=
NP_001394511.1:p.Ala622=
NP_001394512.1:p.Ala622=
NP_001394514.1:p.Ala622=
NP_001394516.1:p.Ala621=
NP_001394519.1:p.Ala621=
NP_001394520.1:p.Ala621=
NP_001394522.1:p.Ala622=
NP_001394523.1:p.Ala622=
NP_001394525.1:p.Ala622=
NP_001394526.1:p.Ala622=
NP_001394527.1:p.Ala622=
NP_001394531.1:p.Ala622=
NP_001394532.1:p.Ala622=
NP_001394534.1:p.Ala622=
NP_001394539.1:p.Ala621=
NP_001394540.1:p.Ala621=
NP_001394541.1:p.Ala621=
NP_001394542.1:p.Ala621=
NP_001394543.1:p.Ala621=
NP_001394544.1:p.Ala621=
NP_001394545.1:p.Ala622=
NP_001394546.1:p.Ala622=
NP_001394547.1:p.Ala622=
NP_001394548.1:p.Ala622=
NP_001394549.1:p.Ala622=
NP_001394550.1:p.Ala622=
NP_001394551.1:p.Ala622=
NP_001394552.1:p.Ala622=
NP_001394553.1:p.Ala622=
NP_001394554.1:p.Ala622=
NP_001394555.1:p.Ala622=
NP_001394556.1:p.Ala621=
NP_001394557.1:p.Ala621=
NP_001394558.1:p.Ala621=
NP_001394559.1:p.Ala621=
NP_001394560.1:p.Ala621=
NP_001394561.1:p.Ala621=
NP_001394562.1:p.Ala621=
NP_001394563.1:p.Ala621=
NP_001394564.1:p.Ala621=
NP_001394565.1:p.Ala621=
NP_001394566.1:p.Ala621=
NP_001394567.1:p.Ala621=
NP_001394568.1:p.Ala622=
NP_001394569.1:p.Ala622=
NP_001394570.1:p.Ala622=
NP_001394571.1:p.Ala622=
NP_001394573.1:p.Ala621=
NP_001394574.1:p.Ala621=
NP_001394575.1:p.Ala619=
NP_001394576.1:p.Ala619=
NP_001394577.1:p.Ala581=
NP_001394578.1:p.Ala580=
NP_001394581.1:p.Ala622=
NP_001394582.1:p.Ala596=
NP_001394583.1:p.Ala596=
NP_001394584.1:p.Ala596=
NP_001394585.1:p.Ala596=
NP_001394586.1:p.Ala596=
NP_001394587.1:p.Ala596=
NP_001394588.1:p.Ala595=
NP_001394589.1:p.Ala595=
NP_001394590.1:p.Ala595=
NP_001394591.1:p.Ala595=
NP_001394592.1:p.Ala596=
NP_001394593.1:p.Ala581=
NP_001394594.1:p.Ala581=
NP_001394595.1:p.Ala581=
NP_001394596.1:p.Ala581=
NP_001394597.1:p.Ala581=
NP_001394598.1:p.Ala581=
NP_001394599.1:p.Ala580=
NP_001394600.1:p.Ala580=
NP_001394601.1:p.Ala580=
NP_001394602.1:p.Ala580=
NP_001394603.1:p.Ala581=
NP_001394604.1:p.Ala581=
NP_001394605.1:p.Ala581=
NP_001394606.1:p.Ala581=
NP_001394607.1:p.Ala581=
NP_001394608.1:p.Ala581=
NP_001394609.1:p.Ala581=
NP_001394610.1:p.Ala581=
NP_001394611.1:p.Ala581=
NP_001394612.1:p.Ala581=
NP_001394613.1:p.Ala622=
NP_001394614.1:p.Ala580=
NP_001394615.1:p.Ala580=
NP_001394616.1:p.Ala580=
NP_001394617.1:p.Ala580=
NP_001394618.1:p.Ala580=
NP_001394619.1:p.Ala580=
NP_001394620.1:p.Ala580=
NP_001394621.1:p.Ala575=
NP_001394623.1:p.Ala575=
NP_001394624.1:p.Ala575=
NP_001394625.1:p.Ala575=
NP_001394626.1:p.Ala575=
NP_001394627.1:p.Ala575=
NP_001394653.1:p.Ala575=
NP_001394654.1:p.Ala575=
NP_001394655.1:p.Ala575=
NP_001394656.1:p.Ala575=
NP_001394657.1:p.Ala575=
NP_001394658.1:p.Ala575=
NP_001394659.1:p.Ala575=
NP_001394660.1:p.Ala575=
NP_001394661.1:p.Ala575=
NP_001394662.1:p.Ala575=
NP_001394663.1:p.Ala575=
NP_001394664.1:p.Ala575=
NP_001394665.1:p.Ala575=
NP_001394666.1:p.Ala575=
NP_001394667.1:p.Ala575=
NP_001394668.1:p.Ala575=
NP_001394669.1:p.Ala574=
NP_001394670.1:p.Ala574=
NP_001394671.1:p.Ala574=
NP_001394672.1:p.Ala574=
NP_001394673.1:p.Ala574=
NP_001394674.1:p.Ala574=
NP_001394675.1:p.Ala574=
NP_001394676.1:p.Ala574=
NP_001394677.1:p.Ala574=
NP_001394678.1:p.Ala574=
NP_001394679.1:p.Ala575=
NP_001394680.1:p.Ala575=
NP_001394681.1:p.Ala575=
NP_001394767.1:p.Ala574=
NP_001394768.1:p.Ala574=
NP_001394770.1:p.Ala574=
NP_001394771.1:p.Ala574=
NP_001394772.1:p.Ala574=
NP_001394773.1:p.Ala574=
NP_001394774.1:p.Ala574=
NP_001394775.1:p.Ala574=
NP_001394776.1:p.Ala574=
NP_001394777.1:p.Ala574=
NP_001394778.1:p.Ala574=
NP_001394779.1:p.Ala575=
NP_001394780.1:p.Ala575=
NP_001394781.1:p.Ala575=
NP_001394782.1:p.Ala551=
NP_001394783.1:p.Ala622=
NP_001394787.1:p.Ala622=
NP_001394788.1:p.Ala622=
NP_001394789.1:p.Ala621=
NP_001394790.1:p.Ala621=
NP_001394791.1:p.Ala555=
NP_001394792.1:p.Ala581=
NP_001394803.1:p.Ala554=
NP_001394804.1:p.Ala554=
NP_001394808.1:p.Ala552=
NP_001394810.1:p.Ala552=
NP_001394811.1:p.Ala552=
NP_001394813.1:p.Ala552=
NP_001394814.1:p.Ala552=
NP_001394815.1:p.Ala552=
NP_001394816.1:p.Ala552=
NP_001394818.1:p.Ala552=
NP_001394823.1:p.Ala551=
NP_001394824.1:p.Ala551=
NP_001394825.1:p.Ala551=
NP_001394826.1:p.Ala551=
NP_001394827.1:p.Ala551=
NP_001394828.1:p.Ala551=
NP_001394829.1:p.Ala552=
NP_001394831.1:p.Ala552=
NP_001394833.1:p.Ala552=
NP_001394835.1:p.Ala552=
NP_001394836.1:p.Ala552=
NP_001394837.1:p.Ala552=
NP_001394838.1:p.Ala552=
NP_001394839.1:p.Ala552=
NP_001394844.1:p.Ala551=
NP_001394845.1:p.Ala551=
NP_001394846.1:p.Ala551=
NP_001394847.1:p.Ala551=
NP_001394848.1:p.Ala581=
NP_001394849.1:p.Ala534=
NP_001394850.1:p.Ala534=
NP_001394851.1:p.Ala534=
NP_001394852.1:p.Ala534=
NP_001394853.1:p.Ala534=
NP_001394854.1:p.Ala534=
NP_001394855.1:p.Ala534=
NP_001394856.1:p.Ala534=
NP_001394857.1:p.Ala534=
NP_001394858.1:p.Ala534=
NP_001394859.1:p.Ala533=
NP_001394860.1:p.Ala533=
NP_001394861.1:p.Ala533=
NP_001394862.1:p.Ala534=
NP_001394863.1:p.Ala533=
NP_001394864.1:p.Ala534=
NP_001394865.1:p.Ala533=
NP_001394866.1:p.Ala581=
NP_001394867.1:p.Ala581=
NP_001394868.1:p.Ala581=
NP_001394869.1:p.Ala580=
NP_001394870.1:p.Ala580=
NP_001394871.1:p.Ala575=
NP_001394872.1:p.Ala574=
NP_001394873.1:p.Ala575=
NP_001394874.1:p.Ala575=
NP_001394875.1:p.Ala511=
NP_001394876.1:p.Ala511=
NP_001394877.1:p.Ala511=
NP_001394878.1:p.Ala511=
NP_001394879.1:p.Ala511=
NP_001394880.1:p.Ala511=
NP_001394881.1:p.Ala511=
NP_001394882.1:p.Ala511=
NP_001394883.1:p.Ala510=
NP_001394884.1:p.Ala510=
NP_001394885.1:p.Ala510=
NP_001394886.1:p.Ala511=
NP_001394887.1:p.Ala510=
NP_001394888.1:p.Ala495=
NP_001394889.1:p.Ala495=
NP_001394891.1:p.Ala494=
NP_001394892.1:p.Ala495=
NP_001394893.1:p.Ala574=
NP_001394894.1:p.Ala454=
NP_001394895.1:p.Ala326=
NP_001394896.1:p.Ala326=
NP_009225.1:p.Ala622=
NP_009225.1:p.Ala622=
NP_009228.2:p.Ala575=
NP_009231.2:p.Ala622=
LRG_292t1:c.1866G>A
LRG_292:g.124319G>A
LRG_292p1:p.Ala622=
NC_000017.10:g.41245682C>T
NM_007294.3:c.1866G>A
NR_027676.2:n.2043G>A
p.A622A

Links:

dbSNP: rs1800064

NCBI 1000 Genomes Browser:

rs1800064

Molecular consequence:

NM_001407968.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+1076G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-2633G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-2633G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+2181G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-2633G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+1079G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407581.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407582.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407583.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407585.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407587.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407590.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407591.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407593.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407594.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407596.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407597.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407598.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407602.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407603.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407605.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407610.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407611.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407612.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407613.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407614.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407615.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407616.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407617.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407618.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407619.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407620.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407621.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407622.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407623.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407624.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407625.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407626.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407627.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407628.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407629.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407630.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407631.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407632.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407633.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407634.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407635.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407636.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407637.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407638.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407639.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407640.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407641.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407642.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407644.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407645.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407646.1:c.1857G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407647.1:c.1857G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407648.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407649.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407652.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407653.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407654.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407655.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407656.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407657.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407658.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407659.1:c.1785G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407660.1:c.1785G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407661.1:c.1785G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407662.1:c.1785G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407663.1:c.1788G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407664.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407665.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407666.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407667.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407668.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407669.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407670.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407671.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407672.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407673.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407674.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407675.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407676.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407677.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407678.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407679.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407680.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407681.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407682.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407683.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407684.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407685.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407686.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407687.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407688.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407689.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407690.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407691.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407692.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407694.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407695.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407696.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407697.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407698.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407724.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407725.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407726.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407727.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407728.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407729.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407730.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407731.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407732.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407733.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407734.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407735.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407736.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407737.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407738.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407739.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407740.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407741.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407742.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407743.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407744.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407745.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407746.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407747.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407748.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407749.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407750.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407751.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407752.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407838.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407839.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407841.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407842.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407843.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407844.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407845.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407846.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407847.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407848.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407849.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407850.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407851.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407852.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407853.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407854.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407858.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407859.1:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407860.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407861.1:c.1863G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407862.1:c.1665G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407863.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407874.1:c.1662G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407875.1:c.1662G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407879.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407881.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407882.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407884.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407885.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407886.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407887.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407889.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407894.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407895.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407896.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407897.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407898.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407899.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407900.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407902.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407904.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407906.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407907.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407908.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407909.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407910.1:c.1656G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407915.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407916.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407917.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407918.1:c.1653G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407919.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407920.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407921.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407922.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407923.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407924.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407925.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407926.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407927.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407928.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407929.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407930.1:c.1599G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407931.1:c.1599G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407932.1:c.1599G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407933.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407934.1:c.1599G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407935.1:c.1602G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407936.1:c.1599G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407937.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407938.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407939.1:c.1743G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407940.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407941.1:c.1740G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407942.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407943.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407944.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407945.1:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407946.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407947.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407948.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407949.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407950.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407951.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407952.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407953.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407954.1:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407955.1:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407956.1:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407957.1:c.1533G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407958.1:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407959.1:c.1485G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407960.1:c.1485G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407962.1:c.1482G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407963.1:c.1485G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407964.1:c.1722G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407965.1:c.1362G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407966.1:c.978G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407967.1:c.978G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007294.4:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007297.4:c.1725G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007300.4:c.1866G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

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

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Mus musculus eukaryotic translation initiation factor 4E binding protein 1, mRNA...
Mus musculus eukaryotic translation initiation factor 4E binding protein 1, mRNA (cDNA clone MGC:6033 IMAGE:3592595), complete cds
gi|12805172|gb|BC002045.1|

Nucleotide
MMP28 matrix metallopeptidase 28 [Homo sapiens]
MMP28 matrix metallopeptidase 28 [Homo sapiens]
Gene ID:79148

Gene
Onosma yamagatae (0)
Nucleotide
Lactiplantibacillus plantarum strain AM89-09b3TA AM89-09b3TA.Scaf30, whole genom...
Lactiplantibacillus plantarum strain AM89-09b3TA AM89-09b3TA.Scaf30, whole genome shotgun sequence
gi|2427994798|ref|NZ_JAQEQL01000003 gnl|WGS:NZ_JAQEQL01|AM89-09b3TA.Scaf30

Nucleotide
Lactiplantibacillus plantarum strain L75a plasmid unnamed1, complete sequence
Lactiplantibacillus plantarum strain L75a plasmid unnamed1, complete sequence
gi|2071020835|gb|CP074420.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000578333	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Likely benign (Jun 29, 2017)	germline	curation	Citation Link,
SCV004016782	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004818272	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Jan 11, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000578333

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))

Likely benign
(Jun 29, 2017)

germline

curation

Citation Link,

SCV004016782

KCCC/NGS Laboratory, Kuwait Cancer Control Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jul 7, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004818272

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(Jan 11, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	4	not provided	not provided	108544	not provided	clinical testing, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578333.2

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

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

#	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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016782.1

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

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

From All of Us Research Program, National Institutes of Health, SCV004818272.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		4	not provided	not provided	not provided

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine