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NM_007294.4(BRCA1):c.1870G>A (p.Glu624Lys) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 14, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001308727.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.1870G>A (p.Glu624Lys)]

NM_007294.4(BRCA1):c.1870G>A (p.Glu624Lys)

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.1870G>A (p.Glu624Lys)
HGVS:
  • NC_000017.11:g.43093661C>T
  • NG_005905.2:g.124323G>A
  • NM_001407571.1:c.1657G>A
  • NM_001407581.1:c.1870G>A
  • NM_001407582.1:c.1870G>A
  • NM_001407583.1:c.1870G>A
  • NM_001407585.1:c.1870G>A
  • NM_001407587.1:c.1867G>A
  • NM_001407590.1:c.1867G>A
  • NM_001407591.1:c.1867G>A
  • NM_001407593.1:c.1870G>A
  • NM_001407594.1:c.1870G>A
  • NM_001407596.1:c.1870G>A
  • NM_001407597.1:c.1870G>A
  • NM_001407598.1:c.1870G>A
  • NM_001407602.1:c.1870G>A
  • NM_001407603.1:c.1870G>A
  • NM_001407605.1:c.1870G>A
  • NM_001407610.1:c.1867G>A
  • NM_001407611.1:c.1867G>A
  • NM_001407612.1:c.1867G>A
  • NM_001407613.1:c.1867G>A
  • NM_001407614.1:c.1867G>A
  • NM_001407615.1:c.1867G>A
  • NM_001407616.1:c.1870G>A
  • NM_001407617.1:c.1870G>A
  • NM_001407618.1:c.1870G>A
  • NM_001407619.1:c.1870G>A
  • NM_001407620.1:c.1870G>A
  • NM_001407621.1:c.1870G>A
  • NM_001407622.1:c.1870G>A
  • NM_001407623.1:c.1870G>A
  • NM_001407624.1:c.1870G>A
  • NM_001407625.1:c.1870G>A
  • NM_001407626.1:c.1870G>A
  • NM_001407627.1:c.1867G>A
  • NM_001407628.1:c.1867G>A
  • NM_001407629.1:c.1867G>A
  • NM_001407630.1:c.1867G>A
  • NM_001407631.1:c.1867G>A
  • NM_001407632.1:c.1867G>A
  • NM_001407633.1:c.1867G>A
  • NM_001407634.1:c.1867G>A
  • NM_001407635.1:c.1867G>A
  • NM_001407636.1:c.1867G>A
  • NM_001407637.1:c.1867G>A
  • NM_001407638.1:c.1867G>A
  • NM_001407639.1:c.1870G>A
  • NM_001407640.1:c.1870G>A
  • NM_001407641.1:c.1870G>A
  • NM_001407642.1:c.1870G>A
  • NM_001407644.1:c.1867G>A
  • NM_001407645.1:c.1867G>A
  • NM_001407646.1:c.1861G>A
  • NM_001407647.1:c.1861G>A
  • NM_001407648.1:c.1747G>A
  • NM_001407649.1:c.1744G>A
  • NM_001407652.1:c.1870G>A
  • NM_001407653.1:c.1792G>A
  • NM_001407654.1:c.1792G>A
  • NM_001407655.1:c.1792G>A
  • NM_001407656.1:c.1792G>A
  • NM_001407657.1:c.1792G>A
  • NM_001407658.1:c.1792G>A
  • NM_001407659.1:c.1789G>A
  • NM_001407660.1:c.1789G>A
  • NM_001407661.1:c.1789G>A
  • NM_001407662.1:c.1789G>A
  • NM_001407663.1:c.1792G>A
  • NM_001407664.1:c.1747G>A
  • NM_001407665.1:c.1747G>A
  • NM_001407666.1:c.1747G>A
  • NM_001407667.1:c.1747G>A
  • NM_001407668.1:c.1747G>A
  • NM_001407669.1:c.1747G>A
  • NM_001407670.1:c.1744G>A
  • NM_001407671.1:c.1744G>A
  • NM_001407672.1:c.1744G>A
  • NM_001407673.1:c.1744G>A
  • NM_001407674.1:c.1747G>A
  • NM_001407675.1:c.1747G>A
  • NM_001407676.1:c.1747G>A
  • NM_001407677.1:c.1747G>A
  • NM_001407678.1:c.1747G>A
  • NM_001407679.1:c.1747G>A
  • NM_001407680.1:c.1747G>A
  • NM_001407681.1:c.1747G>A
  • NM_001407682.1:c.1747G>A
  • NM_001407683.1:c.1747G>A
  • NM_001407684.1:c.1870G>A
  • NM_001407685.1:c.1744G>A
  • NM_001407686.1:c.1744G>A
  • NM_001407687.1:c.1744G>A
  • NM_001407688.1:c.1744G>A
  • NM_001407689.1:c.1744G>A
  • NM_001407690.1:c.1744G>A
  • NM_001407691.1:c.1744G>A
  • NM_001407692.1:c.1729G>A
  • NM_001407694.1:c.1729G>A
  • NM_001407695.1:c.1729G>A
  • NM_001407696.1:c.1729G>A
  • NM_001407697.1:c.1729G>A
  • NM_001407698.1:c.1729G>A
  • NM_001407724.1:c.1729G>A
  • NM_001407725.1:c.1729G>A
  • NM_001407726.1:c.1729G>A
  • NM_001407727.1:c.1729G>A
  • NM_001407728.1:c.1729G>A
  • NM_001407729.1:c.1729G>A
  • NM_001407730.1:c.1729G>A
  • NM_001407731.1:c.1729G>A
  • NM_001407732.1:c.1729G>A
  • NM_001407733.1:c.1729G>A
  • NM_001407734.1:c.1729G>A
  • NM_001407735.1:c.1729G>A
  • NM_001407736.1:c.1729G>A
  • NM_001407737.1:c.1729G>A
  • NM_001407738.1:c.1729G>A
  • NM_001407739.1:c.1729G>A
  • NM_001407740.1:c.1726G>A
  • NM_001407741.1:c.1726G>A
  • NM_001407742.1:c.1726G>A
  • NM_001407743.1:c.1726G>A
  • NM_001407744.1:c.1726G>A
  • NM_001407745.1:c.1726G>A
  • NM_001407746.1:c.1726G>A
  • NM_001407747.1:c.1726G>A
  • NM_001407748.1:c.1726G>A
  • NM_001407749.1:c.1726G>A
  • NM_001407750.1:c.1729G>A
  • NM_001407751.1:c.1729G>A
  • NM_001407752.1:c.1729G>A
  • NM_001407838.1:c.1726G>A
  • NM_001407839.1:c.1726G>A
  • NM_001407841.1:c.1726G>A
  • NM_001407842.1:c.1726G>A
  • NM_001407843.1:c.1726G>A
  • NM_001407844.1:c.1726G>A
  • NM_001407845.1:c.1726G>A
  • NM_001407846.1:c.1726G>A
  • NM_001407847.1:c.1726G>A
  • NM_001407848.1:c.1726G>A
  • NM_001407849.1:c.1726G>A
  • NM_001407850.1:c.1729G>A
  • NM_001407851.1:c.1729G>A
  • NM_001407852.1:c.1729G>A
  • NM_001407853.1:c.1657G>A
  • NM_001407854.1:c.1870G>A
  • NM_001407858.1:c.1870G>A
  • NM_001407859.1:c.1870G>A
  • NM_001407860.1:c.1867G>A
  • NM_001407861.1:c.1867G>A
  • NM_001407862.1:c.1669G>A
  • NM_001407863.1:c.1747G>A
  • NM_001407874.1:c.1666G>A
  • NM_001407875.1:c.1666G>A
  • NM_001407879.1:c.1660G>A
  • NM_001407881.1:c.1660G>A
  • NM_001407882.1:c.1660G>A
  • NM_001407884.1:c.1660G>A
  • NM_001407885.1:c.1660G>A
  • NM_001407886.1:c.1660G>A
  • NM_001407887.1:c.1660G>A
  • NM_001407889.1:c.1660G>A
  • NM_001407894.1:c.1657G>A
  • NM_001407895.1:c.1657G>A
  • NM_001407896.1:c.1657G>A
  • NM_001407897.1:c.1657G>A
  • NM_001407898.1:c.1657G>A
  • NM_001407899.1:c.1657G>A
  • NM_001407900.1:c.1660G>A
  • NM_001407902.1:c.1660G>A
  • NM_001407904.1:c.1660G>A
  • NM_001407906.1:c.1660G>A
  • NM_001407907.1:c.1660G>A
  • NM_001407908.1:c.1660G>A
  • NM_001407909.1:c.1660G>A
  • NM_001407910.1:c.1660G>A
  • NM_001407915.1:c.1657G>A
  • NM_001407916.1:c.1657G>A
  • NM_001407917.1:c.1657G>A
  • NM_001407918.1:c.1657G>A
  • NM_001407919.1:c.1747G>A
  • NM_001407920.1:c.1606G>A
  • NM_001407921.1:c.1606G>A
  • NM_001407922.1:c.1606G>A
  • NM_001407923.1:c.1606G>A
  • NM_001407924.1:c.1606G>A
  • NM_001407925.1:c.1606G>A
  • NM_001407926.1:c.1606G>A
  • NM_001407927.1:c.1606G>A
  • NM_001407928.1:c.1606G>A
  • NM_001407929.1:c.1606G>A
  • NM_001407930.1:c.1603G>A
  • NM_001407931.1:c.1603G>A
  • NM_001407932.1:c.1603G>A
  • NM_001407933.1:c.1606G>A
  • NM_001407934.1:c.1603G>A
  • NM_001407935.1:c.1606G>A
  • NM_001407936.1:c.1603G>A
  • NM_001407937.1:c.1747G>A
  • NM_001407938.1:c.1747G>A
  • NM_001407939.1:c.1747G>A
  • NM_001407940.1:c.1744G>A
  • NM_001407941.1:c.1744G>A
  • NM_001407942.1:c.1729G>A
  • NM_001407943.1:c.1726G>A
  • NM_001407944.1:c.1729G>A
  • NM_001407945.1:c.1729G>A
  • NM_001407946.1:c.1537G>A
  • NM_001407947.1:c.1537G>A
  • NM_001407948.1:c.1537G>A
  • NM_001407949.1:c.1537G>A
  • NM_001407950.1:c.1537G>A
  • NM_001407951.1:c.1537G>A
  • NM_001407952.1:c.1537G>A
  • NM_001407953.1:c.1537G>A
  • NM_001407954.1:c.1534G>A
  • NM_001407955.1:c.1534G>A
  • NM_001407956.1:c.1534G>A
  • NM_001407957.1:c.1537G>A
  • NM_001407958.1:c.1534G>A
  • NM_001407959.1:c.1489G>A
  • NM_001407960.1:c.1489G>A
  • NM_001407962.1:c.1486G>A
  • NM_001407963.1:c.1489G>A
  • NM_001407964.1:c.1726G>A
  • NM_001407965.1:c.1366G>A
  • NM_001407966.1:c.982G>A
  • NM_001407967.1:c.982G>A
  • NM_001407968.1:c.787+1083G>A
  • NM_001407969.1:c.787+1083G>A
  • NM_001407970.1:c.787+1083G>A
  • NM_001407971.1:c.787+1083G>A
  • NM_001407972.1:c.784+1083G>A
  • NM_001407973.1:c.787+1083G>A
  • NM_001407974.1:c.787+1083G>A
  • NM_001407975.1:c.787+1083G>A
  • NM_001407976.1:c.787+1083G>A
  • NM_001407977.1:c.787+1083G>A
  • NM_001407978.1:c.787+1083G>A
  • NM_001407979.1:c.787+1083G>A
  • NM_001407980.1:c.787+1083G>A
  • NM_001407981.1:c.787+1083G>A
  • NM_001407982.1:c.787+1083G>A
  • NM_001407983.1:c.787+1083G>A
  • NM_001407984.1:c.784+1083G>A
  • NM_001407985.1:c.784+1083G>A
  • NM_001407986.1:c.784+1083G>A
  • NM_001407990.1:c.787+1083G>A
  • NM_001407991.1:c.784+1083G>A
  • NM_001407992.1:c.784+1083G>A
  • NM_001407993.1:c.787+1083G>A
  • NM_001408392.1:c.784+1083G>A
  • NM_001408396.1:c.784+1083G>A
  • NM_001408397.1:c.784+1083G>A
  • NM_001408398.1:c.784+1083G>A
  • NM_001408399.1:c.784+1083G>A
  • NM_001408400.1:c.784+1083G>A
  • NM_001408401.1:c.784+1083G>A
  • NM_001408402.1:c.784+1083G>A
  • NM_001408403.1:c.787+1083G>A
  • NM_001408404.1:c.787+1083G>A
  • NM_001408406.1:c.790+1080G>A
  • NM_001408407.1:c.784+1083G>A
  • NM_001408408.1:c.778+1083G>A
  • NM_001408409.1:c.709+1083G>A
  • NM_001408410.1:c.646+1083G>A
  • NM_001408411.1:c.709+1083G>A
  • NM_001408412.1:c.709+1083G>A
  • NM_001408413.1:c.706+1083G>A
  • NM_001408414.1:c.709+1083G>A
  • NM_001408415.1:c.709+1083G>A
  • NM_001408416.1:c.706+1083G>A
  • NM_001408418.1:c.670+2185G>A
  • NM_001408419.1:c.670+2185G>A
  • NM_001408420.1:c.670+2185G>A
  • NM_001408421.1:c.667+2185G>A
  • NM_001408422.1:c.670+2185G>A
  • NM_001408423.1:c.670+2185G>A
  • NM_001408424.1:c.667+2185G>A
  • NM_001408425.1:c.664+1083G>A
  • NM_001408426.1:c.664+1083G>A
  • NM_001408427.1:c.664+1083G>A
  • NM_001408428.1:c.664+1083G>A
  • NM_001408429.1:c.664+1083G>A
  • NM_001408430.1:c.664+1083G>A
  • NM_001408431.1:c.667+2185G>A
  • NM_001408432.1:c.661+1083G>A
  • NM_001408433.1:c.661+1083G>A
  • NM_001408434.1:c.661+1083G>A
  • NM_001408435.1:c.661+1083G>A
  • NM_001408436.1:c.664+1083G>A
  • NM_001408437.1:c.664+1083G>A
  • NM_001408438.1:c.664+1083G>A
  • NM_001408439.1:c.664+1083G>A
  • NM_001408440.1:c.664+1083G>A
  • NM_001408441.1:c.664+1083G>A
  • NM_001408442.1:c.664+1083G>A
  • NM_001408443.1:c.664+1083G>A
  • NM_001408444.1:c.664+1083G>A
  • NM_001408445.1:c.661+1083G>A
  • NM_001408446.1:c.661+1083G>A
  • NM_001408447.1:c.661+1083G>A
  • NM_001408448.1:c.661+1083G>A
  • NM_001408450.1:c.661+1083G>A
  • NM_001408451.1:c.652+1083G>A
  • NM_001408452.1:c.646+1083G>A
  • NM_001408453.1:c.646+1083G>A
  • NM_001408454.1:c.646+1083G>A
  • NM_001408455.1:c.646+1083G>A
  • NM_001408456.1:c.646+1083G>A
  • NM_001408457.1:c.646+1083G>A
  • NM_001408458.1:c.646+1083G>A
  • NM_001408459.1:c.646+1083G>A
  • NM_001408460.1:c.646+1083G>A
  • NM_001408461.1:c.646+1083G>A
  • NM_001408462.1:c.643+1083G>A
  • NM_001408463.1:c.643+1083G>A
  • NM_001408464.1:c.643+1083G>A
  • NM_001408465.1:c.643+1083G>A
  • NM_001408466.1:c.646+1083G>A
  • NM_001408467.1:c.646+1083G>A
  • NM_001408468.1:c.643+1083G>A
  • NM_001408469.1:c.646+1083G>A
  • NM_001408470.1:c.643+1083G>A
  • NM_001408472.1:c.787+1083G>A
  • NM_001408473.1:c.784+1083G>A
  • NM_001408474.1:c.586+1083G>A
  • NM_001408475.1:c.583+1083G>A
  • NM_001408476.1:c.586+1083G>A
  • NM_001408478.1:c.577+1083G>A
  • NM_001408479.1:c.577+1083G>A
  • NM_001408480.1:c.577+1083G>A
  • NM_001408481.1:c.577+1083G>A
  • NM_001408482.1:c.577+1083G>A
  • NM_001408483.1:c.577+1083G>A
  • NM_001408484.1:c.577+1083G>A
  • NM_001408485.1:c.577+1083G>A
  • NM_001408489.1:c.577+1083G>A
  • NM_001408490.1:c.574+1083G>A
  • NM_001408491.1:c.574+1083G>A
  • NM_001408492.1:c.577+1083G>A
  • NM_001408493.1:c.574+1083G>A
  • NM_001408494.1:c.548-2629G>A
  • NM_001408495.1:c.545-2629G>A
  • NM_001408496.1:c.523+1083G>A
  • NM_001408497.1:c.523+1083G>A
  • NM_001408498.1:c.523+1083G>A
  • NM_001408499.1:c.523+1083G>A
  • NM_001408500.1:c.523+1083G>A
  • NM_001408501.1:c.523+1083G>A
  • NM_001408502.1:c.454+1083G>A
  • NM_001408503.1:c.520+1083G>A
  • NM_001408504.1:c.520+1083G>A
  • NM_001408505.1:c.520+1083G>A
  • NM_001408506.1:c.460+2185G>A
  • NM_001408507.1:c.460+2185G>A
  • NM_001408508.1:c.451+1083G>A
  • NM_001408509.1:c.451+1083G>A
  • NM_001408510.1:c.406+1083G>A
  • NM_001408511.1:c.404-2629G>A
  • NM_001408512.1:c.283+1083G>A
  • NM_001408513.1:c.577+1083G>A
  • NM_001408514.1:c.577+1083G>A
  • NM_007294.4:c.1870G>AMANE SELECT
  • NM_007297.4:c.1729G>A
  • NM_007298.4:c.787+1083G>A
  • NM_007299.4:c.787+1083G>A
  • NM_007300.4:c.1870G>A
  • NP_001394500.1:p.Glu553Lys
  • NP_001394510.1:p.Glu624Lys
  • NP_001394511.1:p.Glu624Lys
  • NP_001394512.1:p.Glu624Lys
  • NP_001394514.1:p.Glu624Lys
  • NP_001394516.1:p.Glu623Lys
  • NP_001394519.1:p.Glu623Lys
  • NP_001394520.1:p.Glu623Lys
  • NP_001394522.1:p.Glu624Lys
  • NP_001394523.1:p.Glu624Lys
  • NP_001394525.1:p.Glu624Lys
  • NP_001394526.1:p.Glu624Lys
  • NP_001394527.1:p.Glu624Lys
  • NP_001394531.1:p.Glu624Lys
  • NP_001394532.1:p.Glu624Lys
  • NP_001394534.1:p.Glu624Lys
  • NP_001394539.1:p.Glu623Lys
  • NP_001394540.1:p.Glu623Lys
  • NP_001394541.1:p.Glu623Lys
  • NP_001394542.1:p.Glu623Lys
  • NP_001394543.1:p.Glu623Lys
  • NP_001394544.1:p.Glu623Lys
  • NP_001394545.1:p.Glu624Lys
  • NP_001394546.1:p.Glu624Lys
  • NP_001394547.1:p.Glu624Lys
  • NP_001394548.1:p.Glu624Lys
  • NP_001394549.1:p.Glu624Lys
  • NP_001394550.1:p.Glu624Lys
  • NP_001394551.1:p.Glu624Lys
  • NP_001394552.1:p.Glu624Lys
  • NP_001394553.1:p.Glu624Lys
  • NP_001394554.1:p.Glu624Lys
  • NP_001394555.1:p.Glu624Lys
  • NP_001394556.1:p.Glu623Lys
  • NP_001394557.1:p.Glu623Lys
  • NP_001394558.1:p.Glu623Lys
  • NP_001394559.1:p.Glu623Lys
  • NP_001394560.1:p.Glu623Lys
  • NP_001394561.1:p.Glu623Lys
  • NP_001394562.1:p.Glu623Lys
  • NP_001394563.1:p.Glu623Lys
  • NP_001394564.1:p.Glu623Lys
  • NP_001394565.1:p.Glu623Lys
  • NP_001394566.1:p.Glu623Lys
  • NP_001394567.1:p.Glu623Lys
  • NP_001394568.1:p.Glu624Lys
  • NP_001394569.1:p.Glu624Lys
  • NP_001394570.1:p.Glu624Lys
  • NP_001394571.1:p.Glu624Lys
  • NP_001394573.1:p.Glu623Lys
  • NP_001394574.1:p.Glu623Lys
  • NP_001394575.1:p.Glu621Lys
  • NP_001394576.1:p.Glu621Lys
  • NP_001394577.1:p.Glu583Lys
  • NP_001394578.1:p.Glu582Lys
  • NP_001394581.1:p.Glu624Lys
  • NP_001394582.1:p.Glu598Lys
  • NP_001394583.1:p.Glu598Lys
  • NP_001394584.1:p.Glu598Lys
  • NP_001394585.1:p.Glu598Lys
  • NP_001394586.1:p.Glu598Lys
  • NP_001394587.1:p.Glu598Lys
  • NP_001394588.1:p.Glu597Lys
  • NP_001394589.1:p.Glu597Lys
  • NP_001394590.1:p.Glu597Lys
  • NP_001394591.1:p.Glu597Lys
  • NP_001394592.1:p.Glu598Lys
  • NP_001394593.1:p.Glu583Lys
  • NP_001394594.1:p.Glu583Lys
  • NP_001394595.1:p.Glu583Lys
  • NP_001394596.1:p.Glu583Lys
  • NP_001394597.1:p.Glu583Lys
  • NP_001394598.1:p.Glu583Lys
  • NP_001394599.1:p.Glu582Lys
  • NP_001394600.1:p.Glu582Lys
  • NP_001394601.1:p.Glu582Lys
  • NP_001394602.1:p.Glu582Lys
  • NP_001394603.1:p.Glu583Lys
  • NP_001394604.1:p.Glu583Lys
  • NP_001394605.1:p.Glu583Lys
  • NP_001394606.1:p.Glu583Lys
  • NP_001394607.1:p.Glu583Lys
  • NP_001394608.1:p.Glu583Lys
  • NP_001394609.1:p.Glu583Lys
  • NP_001394610.1:p.Glu583Lys
  • NP_001394611.1:p.Glu583Lys
  • NP_001394612.1:p.Glu583Lys
  • NP_001394613.1:p.Glu624Lys
  • NP_001394614.1:p.Glu582Lys
  • NP_001394615.1:p.Glu582Lys
  • NP_001394616.1:p.Glu582Lys
  • NP_001394617.1:p.Glu582Lys
  • NP_001394618.1:p.Glu582Lys
  • NP_001394619.1:p.Glu582Lys
  • NP_001394620.1:p.Glu582Lys
  • NP_001394621.1:p.Glu577Lys
  • NP_001394623.1:p.Glu577Lys
  • NP_001394624.1:p.Glu577Lys
  • NP_001394625.1:p.Glu577Lys
  • NP_001394626.1:p.Glu577Lys
  • NP_001394627.1:p.Glu577Lys
  • NP_001394653.1:p.Glu577Lys
  • NP_001394654.1:p.Glu577Lys
  • NP_001394655.1:p.Glu577Lys
  • NP_001394656.1:p.Glu577Lys
  • NP_001394657.1:p.Glu577Lys
  • NP_001394658.1:p.Glu577Lys
  • NP_001394659.1:p.Glu577Lys
  • NP_001394660.1:p.Glu577Lys
  • NP_001394661.1:p.Glu577Lys
  • NP_001394662.1:p.Glu577Lys
  • NP_001394663.1:p.Glu577Lys
  • NP_001394664.1:p.Glu577Lys
  • NP_001394665.1:p.Glu577Lys
  • NP_001394666.1:p.Glu577Lys
  • NP_001394667.1:p.Glu577Lys
  • NP_001394668.1:p.Glu577Lys
  • NP_001394669.1:p.Glu576Lys
  • NP_001394670.1:p.Glu576Lys
  • NP_001394671.1:p.Glu576Lys
  • NP_001394672.1:p.Glu576Lys
  • NP_001394673.1:p.Glu576Lys
  • NP_001394674.1:p.Glu576Lys
  • NP_001394675.1:p.Glu576Lys
  • NP_001394676.1:p.Glu576Lys
  • NP_001394677.1:p.Glu576Lys
  • NP_001394678.1:p.Glu576Lys
  • NP_001394679.1:p.Glu577Lys
  • NP_001394680.1:p.Glu577Lys
  • NP_001394681.1:p.Glu577Lys
  • NP_001394767.1:p.Glu576Lys
  • NP_001394768.1:p.Glu576Lys
  • NP_001394770.1:p.Glu576Lys
  • NP_001394771.1:p.Glu576Lys
  • NP_001394772.1:p.Glu576Lys
  • NP_001394773.1:p.Glu576Lys
  • NP_001394774.1:p.Glu576Lys
  • NP_001394775.1:p.Glu576Lys
  • NP_001394776.1:p.Glu576Lys
  • NP_001394777.1:p.Glu576Lys
  • NP_001394778.1:p.Glu576Lys
  • NP_001394779.1:p.Glu577Lys
  • NP_001394780.1:p.Glu577Lys
  • NP_001394781.1:p.Glu577Lys
  • NP_001394782.1:p.Glu553Lys
  • NP_001394783.1:p.Glu624Lys
  • NP_001394787.1:p.Glu624Lys
  • NP_001394788.1:p.Glu624Lys
  • NP_001394789.1:p.Glu623Lys
  • NP_001394790.1:p.Glu623Lys
  • NP_001394791.1:p.Glu557Lys
  • NP_001394792.1:p.Glu583Lys
  • NP_001394803.1:p.Glu556Lys
  • NP_001394804.1:p.Glu556Lys
  • NP_001394808.1:p.Glu554Lys
  • NP_001394810.1:p.Glu554Lys
  • NP_001394811.1:p.Glu554Lys
  • NP_001394813.1:p.Glu554Lys
  • NP_001394814.1:p.Glu554Lys
  • NP_001394815.1:p.Glu554Lys
  • NP_001394816.1:p.Glu554Lys
  • NP_001394818.1:p.Glu554Lys
  • NP_001394823.1:p.Glu553Lys
  • NP_001394824.1:p.Glu553Lys
  • NP_001394825.1:p.Glu553Lys
  • NP_001394826.1:p.Glu553Lys
  • NP_001394827.1:p.Glu553Lys
  • NP_001394828.1:p.Glu553Lys
  • NP_001394829.1:p.Glu554Lys
  • NP_001394831.1:p.Glu554Lys
  • NP_001394833.1:p.Glu554Lys
  • NP_001394835.1:p.Glu554Lys
  • NP_001394836.1:p.Glu554Lys
  • NP_001394837.1:p.Glu554Lys
  • NP_001394838.1:p.Glu554Lys
  • NP_001394839.1:p.Glu554Lys
  • NP_001394844.1:p.Glu553Lys
  • NP_001394845.1:p.Glu553Lys
  • NP_001394846.1:p.Glu553Lys
  • NP_001394847.1:p.Glu553Lys
  • NP_001394848.1:p.Glu583Lys
  • NP_001394849.1:p.Glu536Lys
  • NP_001394850.1:p.Glu536Lys
  • NP_001394851.1:p.Glu536Lys
  • NP_001394852.1:p.Glu536Lys
  • NP_001394853.1:p.Glu536Lys
  • NP_001394854.1:p.Glu536Lys
  • NP_001394855.1:p.Glu536Lys
  • NP_001394856.1:p.Glu536Lys
  • NP_001394857.1:p.Glu536Lys
  • NP_001394858.1:p.Glu536Lys
  • NP_001394859.1:p.Glu535Lys
  • NP_001394860.1:p.Glu535Lys
  • NP_001394861.1:p.Glu535Lys
  • NP_001394862.1:p.Glu536Lys
  • NP_001394863.1:p.Glu535Lys
  • NP_001394864.1:p.Glu536Lys
  • NP_001394865.1:p.Glu535Lys
  • NP_001394866.1:p.Glu583Lys
  • NP_001394867.1:p.Glu583Lys
  • NP_001394868.1:p.Glu583Lys
  • NP_001394869.1:p.Glu582Lys
  • NP_001394870.1:p.Glu582Lys
  • NP_001394871.1:p.Glu577Lys
  • NP_001394872.1:p.Glu576Lys
  • NP_001394873.1:p.Glu577Lys
  • NP_001394874.1:p.Glu577Lys
  • NP_001394875.1:p.Glu513Lys
  • NP_001394876.1:p.Glu513Lys
  • NP_001394877.1:p.Glu513Lys
  • NP_001394878.1:p.Glu513Lys
  • NP_001394879.1:p.Glu513Lys
  • NP_001394880.1:p.Glu513Lys
  • NP_001394881.1:p.Glu513Lys
  • NP_001394882.1:p.Glu513Lys
  • NP_001394883.1:p.Glu512Lys
  • NP_001394884.1:p.Glu512Lys
  • NP_001394885.1:p.Glu512Lys
  • NP_001394886.1:p.Glu513Lys
  • NP_001394887.1:p.Glu512Lys
  • NP_001394888.1:p.Glu497Lys
  • NP_001394889.1:p.Glu497Lys
  • NP_001394891.1:p.Glu496Lys
  • NP_001394892.1:p.Glu497Lys
  • NP_001394893.1:p.Glu576Lys
  • NP_001394894.1:p.Glu456Lys
  • NP_001394895.1:p.Glu328Lys
  • NP_001394896.1:p.Glu328Lys
  • NP_009225.1:p.Glu624Lys
  • NP_009225.1:p.Glu624Lys
  • NP_009228.2:p.Glu577Lys
  • NP_009231.2:p.Glu624Lys
  • LRG_292t1:c.1870G>A
  • LRG_292:g.124323G>A
  • LRG_292p1:p.Glu624Lys
  • NC_000017.10:g.41245678C>T
  • NM_007294.3:c.1870G>A
  • NR_027676.1:n.2006G>A
  • U14680.1:n.1989G>A
Protein change:
E328K
Links:
dbSNP: rs80356950
NCBI 1000 Genomes Browser:
rs80356950
Molecular consequence:
  • NM_001407968.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1080G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2629G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2629G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+2185G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2629G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1083G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1789G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1789G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1789G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1789G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1792G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1666G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1666G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1603G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1747G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001498196Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 14, 2018) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PubMed [citation]
PMID:
21520333

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]
PMID:
10923033
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001498196.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 54374). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 624 of the BRCA1 protein (p.Glu624Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024