U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Mar 23, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000213495.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)]

NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)

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.1662G>C (p.Glu554Asp)
HGVS:
  • NC_000017.11:g.43093869C>G
  • NG_005905.2:g.124115G>C
  • NM_001407571.1:c.1449G>C
  • NM_001407581.1:c.1662G>C
  • NM_001407582.1:c.1662G>C
  • NM_001407583.1:c.1662G>C
  • NM_001407585.1:c.1662G>C
  • NM_001407587.1:c.1659G>C
  • NM_001407590.1:c.1659G>C
  • NM_001407591.1:c.1659G>C
  • NM_001407593.1:c.1662G>C
  • NM_001407594.1:c.1662G>C
  • NM_001407596.1:c.1662G>C
  • NM_001407597.1:c.1662G>C
  • NM_001407598.1:c.1662G>C
  • NM_001407602.1:c.1662G>C
  • NM_001407603.1:c.1662G>C
  • NM_001407605.1:c.1662G>C
  • NM_001407610.1:c.1659G>C
  • NM_001407611.1:c.1659G>C
  • NM_001407612.1:c.1659G>C
  • NM_001407613.1:c.1659G>C
  • NM_001407614.1:c.1659G>C
  • NM_001407615.1:c.1659G>C
  • NM_001407616.1:c.1662G>C
  • NM_001407617.1:c.1662G>C
  • NM_001407618.1:c.1662G>C
  • NM_001407619.1:c.1662G>C
  • NM_001407620.1:c.1662G>C
  • NM_001407621.1:c.1662G>C
  • NM_001407622.1:c.1662G>C
  • NM_001407623.1:c.1662G>C
  • NM_001407624.1:c.1662G>C
  • NM_001407625.1:c.1662G>C
  • NM_001407626.1:c.1662G>C
  • NM_001407627.1:c.1659G>C
  • NM_001407628.1:c.1659G>C
  • NM_001407629.1:c.1659G>C
  • NM_001407630.1:c.1659G>C
  • NM_001407631.1:c.1659G>C
  • NM_001407632.1:c.1659G>C
  • NM_001407633.1:c.1659G>C
  • NM_001407634.1:c.1659G>C
  • NM_001407635.1:c.1659G>C
  • NM_001407636.1:c.1659G>C
  • NM_001407637.1:c.1659G>C
  • NM_001407638.1:c.1659G>C
  • NM_001407639.1:c.1662G>C
  • NM_001407640.1:c.1662G>C
  • NM_001407641.1:c.1662G>C
  • NM_001407642.1:c.1662G>C
  • NM_001407644.1:c.1659G>C
  • NM_001407645.1:c.1659G>C
  • NM_001407646.1:c.1653G>C
  • NM_001407647.1:c.1653G>C
  • NM_001407648.1:c.1539G>C
  • NM_001407649.1:c.1536G>C
  • NM_001407652.1:c.1662G>C
  • NM_001407653.1:c.1584G>C
  • NM_001407654.1:c.1584G>C
  • NM_001407655.1:c.1584G>C
  • NM_001407656.1:c.1584G>C
  • NM_001407657.1:c.1584G>C
  • NM_001407658.1:c.1584G>C
  • NM_001407659.1:c.1581G>C
  • NM_001407660.1:c.1581G>C
  • NM_001407661.1:c.1581G>C
  • NM_001407662.1:c.1581G>C
  • NM_001407663.1:c.1584G>C
  • NM_001407664.1:c.1539G>C
  • NM_001407665.1:c.1539G>C
  • NM_001407666.1:c.1539G>C
  • NM_001407667.1:c.1539G>C
  • NM_001407668.1:c.1539G>C
  • NM_001407669.1:c.1539G>C
  • NM_001407670.1:c.1536G>C
  • NM_001407671.1:c.1536G>C
  • NM_001407672.1:c.1536G>C
  • NM_001407673.1:c.1536G>C
  • NM_001407674.1:c.1539G>C
  • NM_001407675.1:c.1539G>C
  • NM_001407676.1:c.1539G>C
  • NM_001407677.1:c.1539G>C
  • NM_001407678.1:c.1539G>C
  • NM_001407679.1:c.1539G>C
  • NM_001407680.1:c.1539G>C
  • NM_001407681.1:c.1539G>C
  • NM_001407682.1:c.1539G>C
  • NM_001407683.1:c.1539G>C
  • NM_001407684.1:c.1662G>C
  • NM_001407685.1:c.1536G>C
  • NM_001407686.1:c.1536G>C
  • NM_001407687.1:c.1536G>C
  • NM_001407688.1:c.1536G>C
  • NM_001407689.1:c.1536G>C
  • NM_001407690.1:c.1536G>C
  • NM_001407691.1:c.1536G>C
  • NM_001407692.1:c.1521G>C
  • NM_001407694.1:c.1521G>C
  • NM_001407695.1:c.1521G>C
  • NM_001407696.1:c.1521G>C
  • NM_001407697.1:c.1521G>C
  • NM_001407698.1:c.1521G>C
  • NM_001407724.1:c.1521G>C
  • NM_001407725.1:c.1521G>C
  • NM_001407726.1:c.1521G>C
  • NM_001407727.1:c.1521G>C
  • NM_001407728.1:c.1521G>C
  • NM_001407729.1:c.1521G>C
  • NM_001407730.1:c.1521G>C
  • NM_001407731.1:c.1521G>C
  • NM_001407732.1:c.1521G>C
  • NM_001407733.1:c.1521G>C
  • NM_001407734.1:c.1521G>C
  • NM_001407735.1:c.1521G>C
  • NM_001407736.1:c.1521G>C
  • NM_001407737.1:c.1521G>C
  • NM_001407738.1:c.1521G>C
  • NM_001407739.1:c.1521G>C
  • NM_001407740.1:c.1518G>C
  • NM_001407741.1:c.1518G>C
  • NM_001407742.1:c.1518G>C
  • NM_001407743.1:c.1518G>C
  • NM_001407744.1:c.1518G>C
  • NM_001407745.1:c.1518G>C
  • NM_001407746.1:c.1518G>C
  • NM_001407747.1:c.1518G>C
  • NM_001407748.1:c.1518G>C
  • NM_001407749.1:c.1518G>C
  • NM_001407750.1:c.1521G>C
  • NM_001407751.1:c.1521G>C
  • NM_001407752.1:c.1521G>C
  • NM_001407838.1:c.1518G>C
  • NM_001407839.1:c.1518G>C
  • NM_001407841.1:c.1518G>C
  • NM_001407842.1:c.1518G>C
  • NM_001407843.1:c.1518G>C
  • NM_001407844.1:c.1518G>C
  • NM_001407845.1:c.1518G>C
  • NM_001407846.1:c.1518G>C
  • NM_001407847.1:c.1518G>C
  • NM_001407848.1:c.1518G>C
  • NM_001407849.1:c.1518G>C
  • NM_001407850.1:c.1521G>C
  • NM_001407851.1:c.1521G>C
  • NM_001407852.1:c.1521G>C
  • NM_001407853.1:c.1449G>C
  • NM_001407854.1:c.1662G>C
  • NM_001407858.1:c.1662G>C
  • NM_001407859.1:c.1662G>C
  • NM_001407860.1:c.1659G>C
  • NM_001407861.1:c.1659G>C
  • NM_001407862.1:c.1461G>C
  • NM_001407863.1:c.1539G>C
  • NM_001407874.1:c.1458G>C
  • NM_001407875.1:c.1458G>C
  • NM_001407879.1:c.1452G>C
  • NM_001407881.1:c.1452G>C
  • NM_001407882.1:c.1452G>C
  • NM_001407884.1:c.1452G>C
  • NM_001407885.1:c.1452G>C
  • NM_001407886.1:c.1452G>C
  • NM_001407887.1:c.1452G>C
  • NM_001407889.1:c.1452G>C
  • NM_001407894.1:c.1449G>C
  • NM_001407895.1:c.1449G>C
  • NM_001407896.1:c.1449G>C
  • NM_001407897.1:c.1449G>C
  • NM_001407898.1:c.1449G>C
  • NM_001407899.1:c.1449G>C
  • NM_001407900.1:c.1452G>C
  • NM_001407902.1:c.1452G>C
  • NM_001407904.1:c.1452G>C
  • NM_001407906.1:c.1452G>C
  • NM_001407907.1:c.1452G>C
  • NM_001407908.1:c.1452G>C
  • NM_001407909.1:c.1452G>C
  • NM_001407910.1:c.1452G>C
  • NM_001407915.1:c.1449G>C
  • NM_001407916.1:c.1449G>C
  • NM_001407917.1:c.1449G>C
  • NM_001407918.1:c.1449G>C
  • NM_001407919.1:c.1539G>C
  • NM_001407920.1:c.1398G>C
  • NM_001407921.1:c.1398G>C
  • NM_001407922.1:c.1398G>C
  • NM_001407923.1:c.1398G>C
  • NM_001407924.1:c.1398G>C
  • NM_001407925.1:c.1398G>C
  • NM_001407926.1:c.1398G>C
  • NM_001407927.1:c.1398G>C
  • NM_001407928.1:c.1398G>C
  • NM_001407929.1:c.1398G>C
  • NM_001407930.1:c.1395G>C
  • NM_001407931.1:c.1395G>C
  • NM_001407932.1:c.1395G>C
  • NM_001407933.1:c.1398G>C
  • NM_001407934.1:c.1395G>C
  • NM_001407935.1:c.1398G>C
  • NM_001407936.1:c.1395G>C
  • NM_001407937.1:c.1539G>C
  • NM_001407938.1:c.1539G>C
  • NM_001407939.1:c.1539G>C
  • NM_001407940.1:c.1536G>C
  • NM_001407941.1:c.1536G>C
  • NM_001407942.1:c.1521G>C
  • NM_001407943.1:c.1518G>C
  • NM_001407944.1:c.1521G>C
  • NM_001407945.1:c.1521G>C
  • NM_001407946.1:c.1329G>C
  • NM_001407947.1:c.1329G>C
  • NM_001407948.1:c.1329G>C
  • NM_001407949.1:c.1329G>C
  • NM_001407950.1:c.1329G>C
  • NM_001407951.1:c.1329G>C
  • NM_001407952.1:c.1329G>C
  • NM_001407953.1:c.1329G>C
  • NM_001407954.1:c.1326G>C
  • NM_001407955.1:c.1326G>C
  • NM_001407956.1:c.1326G>C
  • NM_001407957.1:c.1329G>C
  • NM_001407958.1:c.1326G>C
  • NM_001407959.1:c.1281G>C
  • NM_001407960.1:c.1281G>C
  • NM_001407962.1:c.1278G>C
  • NM_001407963.1:c.1281G>C
  • NM_001407964.1:c.1518G>C
  • NM_001407965.1:c.1158G>C
  • NM_001407966.1:c.774G>C
  • NM_001407967.1:c.774G>C
  • NM_001407968.1:c.787+875G>C
  • NM_001407969.1:c.787+875G>C
  • NM_001407970.1:c.787+875G>C
  • NM_001407971.1:c.787+875G>C
  • NM_001407972.1:c.784+875G>C
  • NM_001407973.1:c.787+875G>C
  • NM_001407974.1:c.787+875G>C
  • NM_001407975.1:c.787+875G>C
  • NM_001407976.1:c.787+875G>C
  • NM_001407977.1:c.787+875G>C
  • NM_001407978.1:c.787+875G>C
  • NM_001407979.1:c.787+875G>C
  • NM_001407980.1:c.787+875G>C
  • NM_001407981.1:c.787+875G>C
  • NM_001407982.1:c.787+875G>C
  • NM_001407983.1:c.787+875G>C
  • NM_001407984.1:c.784+875G>C
  • NM_001407985.1:c.784+875G>C
  • NM_001407986.1:c.784+875G>C
  • NM_001407990.1:c.787+875G>C
  • NM_001407991.1:c.784+875G>C
  • NM_001407992.1:c.784+875G>C
  • NM_001407993.1:c.787+875G>C
  • NM_001408392.1:c.784+875G>C
  • NM_001408396.1:c.784+875G>C
  • NM_001408397.1:c.784+875G>C
  • NM_001408398.1:c.784+875G>C
  • NM_001408399.1:c.784+875G>C
  • NM_001408400.1:c.784+875G>C
  • NM_001408401.1:c.784+875G>C
  • NM_001408402.1:c.784+875G>C
  • NM_001408403.1:c.787+875G>C
  • NM_001408404.1:c.787+875G>C
  • NM_001408406.1:c.790+872G>C
  • NM_001408407.1:c.784+875G>C
  • NM_001408408.1:c.778+875G>C
  • NM_001408409.1:c.709+875G>C
  • NM_001408410.1:c.646+875G>C
  • NM_001408411.1:c.709+875G>C
  • NM_001408412.1:c.709+875G>C
  • NM_001408413.1:c.706+875G>C
  • NM_001408414.1:c.709+875G>C
  • NM_001408415.1:c.709+875G>C
  • NM_001408416.1:c.706+875G>C
  • NM_001408418.1:c.670+1977G>C
  • NM_001408419.1:c.670+1977G>C
  • NM_001408420.1:c.670+1977G>C
  • NM_001408421.1:c.667+1977G>C
  • NM_001408422.1:c.670+1977G>C
  • NM_001408423.1:c.670+1977G>C
  • NM_001408424.1:c.667+1977G>C
  • NM_001408425.1:c.664+875G>C
  • NM_001408426.1:c.664+875G>C
  • NM_001408427.1:c.664+875G>C
  • NM_001408428.1:c.664+875G>C
  • NM_001408429.1:c.664+875G>C
  • NM_001408430.1:c.664+875G>C
  • NM_001408431.1:c.667+1977G>C
  • NM_001408432.1:c.661+875G>C
  • NM_001408433.1:c.661+875G>C
  • NM_001408434.1:c.661+875G>C
  • NM_001408435.1:c.661+875G>C
  • NM_001408436.1:c.664+875G>C
  • NM_001408437.1:c.664+875G>C
  • NM_001408438.1:c.664+875G>C
  • NM_001408439.1:c.664+875G>C
  • NM_001408440.1:c.664+875G>C
  • NM_001408441.1:c.664+875G>C
  • NM_001408442.1:c.664+875G>C
  • NM_001408443.1:c.664+875G>C
  • NM_001408444.1:c.664+875G>C
  • NM_001408445.1:c.661+875G>C
  • NM_001408446.1:c.661+875G>C
  • NM_001408447.1:c.661+875G>C
  • NM_001408448.1:c.661+875G>C
  • NM_001408450.1:c.661+875G>C
  • NM_001408451.1:c.652+875G>C
  • NM_001408452.1:c.646+875G>C
  • NM_001408453.1:c.646+875G>C
  • NM_001408454.1:c.646+875G>C
  • NM_001408455.1:c.646+875G>C
  • NM_001408456.1:c.646+875G>C
  • NM_001408457.1:c.646+875G>C
  • NM_001408458.1:c.646+875G>C
  • NM_001408459.1:c.646+875G>C
  • NM_001408460.1:c.646+875G>C
  • NM_001408461.1:c.646+875G>C
  • NM_001408462.1:c.643+875G>C
  • NM_001408463.1:c.643+875G>C
  • NM_001408464.1:c.643+875G>C
  • NM_001408465.1:c.643+875G>C
  • NM_001408466.1:c.646+875G>C
  • NM_001408467.1:c.646+875G>C
  • NM_001408468.1:c.643+875G>C
  • NM_001408469.1:c.646+875G>C
  • NM_001408470.1:c.643+875G>C
  • NM_001408472.1:c.787+875G>C
  • NM_001408473.1:c.784+875G>C
  • NM_001408474.1:c.586+875G>C
  • NM_001408475.1:c.583+875G>C
  • NM_001408476.1:c.586+875G>C
  • NM_001408478.1:c.577+875G>C
  • NM_001408479.1:c.577+875G>C
  • NM_001408480.1:c.577+875G>C
  • NM_001408481.1:c.577+875G>C
  • NM_001408482.1:c.577+875G>C
  • NM_001408483.1:c.577+875G>C
  • NM_001408484.1:c.577+875G>C
  • NM_001408485.1:c.577+875G>C
  • NM_001408489.1:c.577+875G>C
  • NM_001408490.1:c.574+875G>C
  • NM_001408491.1:c.574+875G>C
  • NM_001408492.1:c.577+875G>C
  • NM_001408493.1:c.574+875G>C
  • NM_001408494.1:c.548-2837G>C
  • NM_001408495.1:c.545-2837G>C
  • NM_001408496.1:c.523+875G>C
  • NM_001408497.1:c.523+875G>C
  • NM_001408498.1:c.523+875G>C
  • NM_001408499.1:c.523+875G>C
  • NM_001408500.1:c.523+875G>C
  • NM_001408501.1:c.523+875G>C
  • NM_001408502.1:c.454+875G>C
  • NM_001408503.1:c.520+875G>C
  • NM_001408504.1:c.520+875G>C
  • NM_001408505.1:c.520+875G>C
  • NM_001408506.1:c.460+1977G>C
  • NM_001408507.1:c.460+1977G>C
  • NM_001408508.1:c.451+875G>C
  • NM_001408509.1:c.451+875G>C
  • NM_001408510.1:c.406+875G>C
  • NM_001408511.1:c.404-2837G>C
  • NM_001408512.1:c.283+875G>C
  • NM_001408513.1:c.577+875G>C
  • NM_001408514.1:c.577+875G>C
  • NM_007294.4:c.1662G>CMANE SELECT
  • NM_007297.4:c.1521G>C
  • NM_007298.4:c.787+875G>C
  • NM_007299.4:c.787+875G>C
  • NM_007300.4:c.1662G>C
  • NP_001394500.1:p.Glu483Asp
  • NP_001394510.1:p.Glu554Asp
  • NP_001394511.1:p.Glu554Asp
  • NP_001394512.1:p.Glu554Asp
  • NP_001394514.1:p.Glu554Asp
  • NP_001394516.1:p.Glu553Asp
  • NP_001394519.1:p.Glu553Asp
  • NP_001394520.1:p.Glu553Asp
  • NP_001394522.1:p.Glu554Asp
  • NP_001394523.1:p.Glu554Asp
  • NP_001394525.1:p.Glu554Asp
  • NP_001394526.1:p.Glu554Asp
  • NP_001394527.1:p.Glu554Asp
  • NP_001394531.1:p.Glu554Asp
  • NP_001394532.1:p.Glu554Asp
  • NP_001394534.1:p.Glu554Asp
  • NP_001394539.1:p.Glu553Asp
  • NP_001394540.1:p.Glu553Asp
  • NP_001394541.1:p.Glu553Asp
  • NP_001394542.1:p.Glu553Asp
  • NP_001394543.1:p.Glu553Asp
  • NP_001394544.1:p.Glu553Asp
  • NP_001394545.1:p.Glu554Asp
  • NP_001394546.1:p.Glu554Asp
  • NP_001394547.1:p.Glu554Asp
  • NP_001394548.1:p.Glu554Asp
  • NP_001394549.1:p.Glu554Asp
  • NP_001394550.1:p.Glu554Asp
  • NP_001394551.1:p.Glu554Asp
  • NP_001394552.1:p.Glu554Asp
  • NP_001394553.1:p.Glu554Asp
  • NP_001394554.1:p.Glu554Asp
  • NP_001394555.1:p.Glu554Asp
  • NP_001394556.1:p.Glu553Asp
  • NP_001394557.1:p.Glu553Asp
  • NP_001394558.1:p.Glu553Asp
  • NP_001394559.1:p.Glu553Asp
  • NP_001394560.1:p.Glu553Asp
  • NP_001394561.1:p.Glu553Asp
  • NP_001394562.1:p.Glu553Asp
  • NP_001394563.1:p.Glu553Asp
  • NP_001394564.1:p.Glu553Asp
  • NP_001394565.1:p.Glu553Asp
  • NP_001394566.1:p.Glu553Asp
  • NP_001394567.1:p.Glu553Asp
  • NP_001394568.1:p.Glu554Asp
  • NP_001394569.1:p.Glu554Asp
  • NP_001394570.1:p.Glu554Asp
  • NP_001394571.1:p.Glu554Asp
  • NP_001394573.1:p.Glu553Asp
  • NP_001394574.1:p.Glu553Asp
  • NP_001394575.1:p.Glu551Asp
  • NP_001394576.1:p.Glu551Asp
  • NP_001394577.1:p.Glu513Asp
  • NP_001394578.1:p.Glu512Asp
  • NP_001394581.1:p.Glu554Asp
  • NP_001394582.1:p.Glu528Asp
  • NP_001394583.1:p.Glu528Asp
  • NP_001394584.1:p.Glu528Asp
  • NP_001394585.1:p.Glu528Asp
  • NP_001394586.1:p.Glu528Asp
  • NP_001394587.1:p.Glu528Asp
  • NP_001394588.1:p.Glu527Asp
  • NP_001394589.1:p.Glu527Asp
  • NP_001394590.1:p.Glu527Asp
  • NP_001394591.1:p.Glu527Asp
  • NP_001394592.1:p.Glu528Asp
  • NP_001394593.1:p.Glu513Asp
  • NP_001394594.1:p.Glu513Asp
  • NP_001394595.1:p.Glu513Asp
  • NP_001394596.1:p.Glu513Asp
  • NP_001394597.1:p.Glu513Asp
  • NP_001394598.1:p.Glu513Asp
  • NP_001394599.1:p.Glu512Asp
  • NP_001394600.1:p.Glu512Asp
  • NP_001394601.1:p.Glu512Asp
  • NP_001394602.1:p.Glu512Asp
  • NP_001394603.1:p.Glu513Asp
  • NP_001394604.1:p.Glu513Asp
  • NP_001394605.1:p.Glu513Asp
  • NP_001394606.1:p.Glu513Asp
  • NP_001394607.1:p.Glu513Asp
  • NP_001394608.1:p.Glu513Asp
  • NP_001394609.1:p.Glu513Asp
  • NP_001394610.1:p.Glu513Asp
  • NP_001394611.1:p.Glu513Asp
  • NP_001394612.1:p.Glu513Asp
  • NP_001394613.1:p.Glu554Asp
  • NP_001394614.1:p.Glu512Asp
  • NP_001394615.1:p.Glu512Asp
  • NP_001394616.1:p.Glu512Asp
  • NP_001394617.1:p.Glu512Asp
  • NP_001394618.1:p.Glu512Asp
  • NP_001394619.1:p.Glu512Asp
  • NP_001394620.1:p.Glu512Asp
  • NP_001394621.1:p.Glu507Asp
  • NP_001394623.1:p.Glu507Asp
  • NP_001394624.1:p.Glu507Asp
  • NP_001394625.1:p.Glu507Asp
  • NP_001394626.1:p.Glu507Asp
  • NP_001394627.1:p.Glu507Asp
  • NP_001394653.1:p.Glu507Asp
  • NP_001394654.1:p.Glu507Asp
  • NP_001394655.1:p.Glu507Asp
  • NP_001394656.1:p.Glu507Asp
  • NP_001394657.1:p.Glu507Asp
  • NP_001394658.1:p.Glu507Asp
  • NP_001394659.1:p.Glu507Asp
  • NP_001394660.1:p.Glu507Asp
  • NP_001394661.1:p.Glu507Asp
  • NP_001394662.1:p.Glu507Asp
  • NP_001394663.1:p.Glu507Asp
  • NP_001394664.1:p.Glu507Asp
  • NP_001394665.1:p.Glu507Asp
  • NP_001394666.1:p.Glu507Asp
  • NP_001394667.1:p.Glu507Asp
  • NP_001394668.1:p.Glu507Asp
  • NP_001394669.1:p.Glu506Asp
  • NP_001394670.1:p.Glu506Asp
  • NP_001394671.1:p.Glu506Asp
  • NP_001394672.1:p.Glu506Asp
  • NP_001394673.1:p.Glu506Asp
  • NP_001394674.1:p.Glu506Asp
  • NP_001394675.1:p.Glu506Asp
  • NP_001394676.1:p.Glu506Asp
  • NP_001394677.1:p.Glu506Asp
  • NP_001394678.1:p.Glu506Asp
  • NP_001394679.1:p.Glu507Asp
  • NP_001394680.1:p.Glu507Asp
  • NP_001394681.1:p.Glu507Asp
  • NP_001394767.1:p.Glu506Asp
  • NP_001394768.1:p.Glu506Asp
  • NP_001394770.1:p.Glu506Asp
  • NP_001394771.1:p.Glu506Asp
  • NP_001394772.1:p.Glu506Asp
  • NP_001394773.1:p.Glu506Asp
  • NP_001394774.1:p.Glu506Asp
  • NP_001394775.1:p.Glu506Asp
  • NP_001394776.1:p.Glu506Asp
  • NP_001394777.1:p.Glu506Asp
  • NP_001394778.1:p.Glu506Asp
  • NP_001394779.1:p.Glu507Asp
  • NP_001394780.1:p.Glu507Asp
  • NP_001394781.1:p.Glu507Asp
  • NP_001394782.1:p.Glu483Asp
  • NP_001394783.1:p.Glu554Asp
  • NP_001394787.1:p.Glu554Asp
  • NP_001394788.1:p.Glu554Asp
  • NP_001394789.1:p.Glu553Asp
  • NP_001394790.1:p.Glu553Asp
  • NP_001394791.1:p.Glu487Asp
  • NP_001394792.1:p.Glu513Asp
  • NP_001394803.1:p.Glu486Asp
  • NP_001394804.1:p.Glu486Asp
  • NP_001394808.1:p.Glu484Asp
  • NP_001394810.1:p.Glu484Asp
  • NP_001394811.1:p.Glu484Asp
  • NP_001394813.1:p.Glu484Asp
  • NP_001394814.1:p.Glu484Asp
  • NP_001394815.1:p.Glu484Asp
  • NP_001394816.1:p.Glu484Asp
  • NP_001394818.1:p.Glu484Asp
  • NP_001394823.1:p.Glu483Asp
  • NP_001394824.1:p.Glu483Asp
  • NP_001394825.1:p.Glu483Asp
  • NP_001394826.1:p.Glu483Asp
  • NP_001394827.1:p.Glu483Asp
  • NP_001394828.1:p.Glu483Asp
  • NP_001394829.1:p.Glu484Asp
  • NP_001394831.1:p.Glu484Asp
  • NP_001394833.1:p.Glu484Asp
  • NP_001394835.1:p.Glu484Asp
  • NP_001394836.1:p.Glu484Asp
  • NP_001394837.1:p.Glu484Asp
  • NP_001394838.1:p.Glu484Asp
  • NP_001394839.1:p.Glu484Asp
  • NP_001394844.1:p.Glu483Asp
  • NP_001394845.1:p.Glu483Asp
  • NP_001394846.1:p.Glu483Asp
  • NP_001394847.1:p.Glu483Asp
  • NP_001394848.1:p.Glu513Asp
  • NP_001394849.1:p.Glu466Asp
  • NP_001394850.1:p.Glu466Asp
  • NP_001394851.1:p.Glu466Asp
  • NP_001394852.1:p.Glu466Asp
  • NP_001394853.1:p.Glu466Asp
  • NP_001394854.1:p.Glu466Asp
  • NP_001394855.1:p.Glu466Asp
  • NP_001394856.1:p.Glu466Asp
  • NP_001394857.1:p.Glu466Asp
  • NP_001394858.1:p.Glu466Asp
  • NP_001394859.1:p.Glu465Asp
  • NP_001394860.1:p.Glu465Asp
  • NP_001394861.1:p.Glu465Asp
  • NP_001394862.1:p.Glu466Asp
  • NP_001394863.1:p.Glu465Asp
  • NP_001394864.1:p.Glu466Asp
  • NP_001394865.1:p.Glu465Asp
  • NP_001394866.1:p.Glu513Asp
  • NP_001394867.1:p.Glu513Asp
  • NP_001394868.1:p.Glu513Asp
  • NP_001394869.1:p.Glu512Asp
  • NP_001394870.1:p.Glu512Asp
  • NP_001394871.1:p.Glu507Asp
  • NP_001394872.1:p.Glu506Asp
  • NP_001394873.1:p.Glu507Asp
  • NP_001394874.1:p.Glu507Asp
  • NP_001394875.1:p.Glu443Asp
  • NP_001394876.1:p.Glu443Asp
  • NP_001394877.1:p.Glu443Asp
  • NP_001394878.1:p.Glu443Asp
  • NP_001394879.1:p.Glu443Asp
  • NP_001394880.1:p.Glu443Asp
  • NP_001394881.1:p.Glu443Asp
  • NP_001394882.1:p.Glu443Asp
  • NP_001394883.1:p.Glu442Asp
  • NP_001394884.1:p.Glu442Asp
  • NP_001394885.1:p.Glu442Asp
  • NP_001394886.1:p.Glu443Asp
  • NP_001394887.1:p.Glu442Asp
  • NP_001394888.1:p.Glu427Asp
  • NP_001394889.1:p.Glu427Asp
  • NP_001394891.1:p.Glu426Asp
  • NP_001394892.1:p.Glu427Asp
  • NP_001394893.1:p.Glu506Asp
  • NP_001394894.1:p.Glu386Asp
  • NP_001394895.1:p.Glu258Asp
  • NP_001394896.1:p.Glu258Asp
  • NP_009225.1:p.Glu554Asp
  • NP_009225.1:p.Glu554Asp
  • NP_009228.2:p.Glu507Asp
  • NP_009231.2:p.Glu554Asp
  • LRG_292t1:c.1662G>C
  • LRG_292:g.124115G>C
  • LRG_292p1:p.Glu554Asp
  • NC_000017.10:g.41245886C>G
  • NM_007294.3:c.1662G>C
  • NM_007300.3:c.1662G>C
  • NR_027676.1:n.1798G>C
Protein change:
E258D
Links:
dbSNP: rs876659028
NCBI 1000 Genomes Browser:
rs876659028
Molecular consequence:
  • NM_001407968.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+872G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2837G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2837G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1977G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2837G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+875G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1653G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1653G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1581G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1581G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1581G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1581G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1584G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1461G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1458G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1458G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1449G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1398G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1395G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1539G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1536G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1326G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1326G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1326G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1329G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1326G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1281G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1281G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1278G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1281G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1518G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1158G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.774G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.774G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1521G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1662G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000274992Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 22, 2022) 		germlineclinical testing

Citation Link,

SCV001356044Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 3, 2020) 		germlineclinical testing

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

SCV003851137University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]
PMID:
31911673
PMCID:
PMC7200594

Details of each submission

From Ambry Genetics, SCV000274992.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E554D variant (also known as c.1662G>C), located in coding exon 9 of the BRCA1 gene, results from a G to C substitution at nucleotide position 1662. The glutamic acid at codon 554 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV001356044.2

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

Description

This missense variant replaces glutamic acid with aspartic acid at codon 554 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003851137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Oct 8, 2024