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NM_007294.4(BRCA1):c.1480C>A (p.Gln494Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 12, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003339011.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.1480C>A (p.Gln494Lys)]

NM_007294.4(BRCA1):c.1480C>A (p.Gln494Lys)

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.1480C>A (p.Gln494Lys)
HGVS:
  • NC_000017.11:g.43094051G>T
  • NG_005905.2:g.123933C>A
  • NM_001407571.1:c.1267C>A
  • NM_001407581.1:c.1480C>A
  • NM_001407582.1:c.1480C>A
  • NM_001407583.1:c.1480C>A
  • NM_001407585.1:c.1480C>A
  • NM_001407587.1:c.1477C>A
  • NM_001407590.1:c.1477C>A
  • NM_001407591.1:c.1477C>A
  • NM_001407593.1:c.1480C>A
  • NM_001407594.1:c.1480C>A
  • NM_001407596.1:c.1480C>A
  • NM_001407597.1:c.1480C>A
  • NM_001407598.1:c.1480C>A
  • NM_001407602.1:c.1480C>A
  • NM_001407603.1:c.1480C>A
  • NM_001407605.1:c.1480C>A
  • NM_001407610.1:c.1477C>A
  • NM_001407611.1:c.1477C>A
  • NM_001407612.1:c.1477C>A
  • NM_001407613.1:c.1477C>A
  • NM_001407614.1:c.1477C>A
  • NM_001407615.1:c.1477C>A
  • NM_001407616.1:c.1480C>A
  • NM_001407617.1:c.1480C>A
  • NM_001407618.1:c.1480C>A
  • NM_001407619.1:c.1480C>A
  • NM_001407620.1:c.1480C>A
  • NM_001407621.1:c.1480C>A
  • NM_001407622.1:c.1480C>A
  • NM_001407623.1:c.1480C>A
  • NM_001407624.1:c.1480C>A
  • NM_001407625.1:c.1480C>A
  • NM_001407626.1:c.1480C>A
  • NM_001407627.1:c.1477C>A
  • NM_001407628.1:c.1477C>A
  • NM_001407629.1:c.1477C>A
  • NM_001407630.1:c.1477C>A
  • NM_001407631.1:c.1477C>A
  • NM_001407632.1:c.1477C>A
  • NM_001407633.1:c.1477C>A
  • NM_001407634.1:c.1477C>A
  • NM_001407635.1:c.1477C>A
  • NM_001407636.1:c.1477C>A
  • NM_001407637.1:c.1477C>A
  • NM_001407638.1:c.1477C>A
  • NM_001407639.1:c.1480C>A
  • NM_001407640.1:c.1480C>A
  • NM_001407641.1:c.1480C>A
  • NM_001407642.1:c.1480C>A
  • NM_001407644.1:c.1477C>A
  • NM_001407645.1:c.1477C>A
  • NM_001407646.1:c.1471C>A
  • NM_001407647.1:c.1471C>A
  • NM_001407648.1:c.1357C>A
  • NM_001407649.1:c.1354C>A
  • NM_001407652.1:c.1480C>A
  • NM_001407653.1:c.1402C>A
  • NM_001407654.1:c.1402C>A
  • NM_001407655.1:c.1402C>A
  • NM_001407656.1:c.1402C>A
  • NM_001407657.1:c.1402C>A
  • NM_001407658.1:c.1402C>A
  • NM_001407659.1:c.1399C>A
  • NM_001407660.1:c.1399C>A
  • NM_001407661.1:c.1399C>A
  • NM_001407662.1:c.1399C>A
  • NM_001407663.1:c.1402C>A
  • NM_001407664.1:c.1357C>A
  • NM_001407665.1:c.1357C>A
  • NM_001407666.1:c.1357C>A
  • NM_001407667.1:c.1357C>A
  • NM_001407668.1:c.1357C>A
  • NM_001407669.1:c.1357C>A
  • NM_001407670.1:c.1354C>A
  • NM_001407671.1:c.1354C>A
  • NM_001407672.1:c.1354C>A
  • NM_001407673.1:c.1354C>A
  • NM_001407674.1:c.1357C>A
  • NM_001407675.1:c.1357C>A
  • NM_001407676.1:c.1357C>A
  • NM_001407677.1:c.1357C>A
  • NM_001407678.1:c.1357C>A
  • NM_001407679.1:c.1357C>A
  • NM_001407680.1:c.1357C>A
  • NM_001407681.1:c.1357C>A
  • NM_001407682.1:c.1357C>A
  • NM_001407683.1:c.1357C>A
  • NM_001407684.1:c.1480C>A
  • NM_001407685.1:c.1354C>A
  • NM_001407686.1:c.1354C>A
  • NM_001407687.1:c.1354C>A
  • NM_001407688.1:c.1354C>A
  • NM_001407689.1:c.1354C>A
  • NM_001407690.1:c.1354C>A
  • NM_001407691.1:c.1354C>A
  • NM_001407692.1:c.1339C>A
  • NM_001407694.1:c.1339C>A
  • NM_001407695.1:c.1339C>A
  • NM_001407696.1:c.1339C>A
  • NM_001407697.1:c.1339C>A
  • NM_001407698.1:c.1339C>A
  • NM_001407724.1:c.1339C>A
  • NM_001407725.1:c.1339C>A
  • NM_001407726.1:c.1339C>A
  • NM_001407727.1:c.1339C>A
  • NM_001407728.1:c.1339C>A
  • NM_001407729.1:c.1339C>A
  • NM_001407730.1:c.1339C>A
  • NM_001407731.1:c.1339C>A
  • NM_001407732.1:c.1339C>A
  • NM_001407733.1:c.1339C>A
  • NM_001407734.1:c.1339C>A
  • NM_001407735.1:c.1339C>A
  • NM_001407736.1:c.1339C>A
  • NM_001407737.1:c.1339C>A
  • NM_001407738.1:c.1339C>A
  • NM_001407739.1:c.1339C>A
  • NM_001407740.1:c.1336C>A
  • NM_001407741.1:c.1336C>A
  • NM_001407742.1:c.1336C>A
  • NM_001407743.1:c.1336C>A
  • NM_001407744.1:c.1336C>A
  • NM_001407745.1:c.1336C>A
  • NM_001407746.1:c.1336C>A
  • NM_001407747.1:c.1336C>A
  • NM_001407748.1:c.1336C>A
  • NM_001407749.1:c.1336C>A
  • NM_001407750.1:c.1339C>A
  • NM_001407751.1:c.1339C>A
  • NM_001407752.1:c.1339C>A
  • NM_001407838.1:c.1336C>A
  • NM_001407839.1:c.1336C>A
  • NM_001407841.1:c.1336C>A
  • NM_001407842.1:c.1336C>A
  • NM_001407843.1:c.1336C>A
  • NM_001407844.1:c.1336C>A
  • NM_001407845.1:c.1336C>A
  • NM_001407846.1:c.1336C>A
  • NM_001407847.1:c.1336C>A
  • NM_001407848.1:c.1336C>A
  • NM_001407849.1:c.1336C>A
  • NM_001407850.1:c.1339C>A
  • NM_001407851.1:c.1339C>A
  • NM_001407852.1:c.1339C>A
  • NM_001407853.1:c.1267C>A
  • NM_001407854.1:c.1480C>A
  • NM_001407858.1:c.1480C>A
  • NM_001407859.1:c.1480C>A
  • NM_001407860.1:c.1477C>A
  • NM_001407861.1:c.1477C>A
  • NM_001407862.1:c.1279C>A
  • NM_001407863.1:c.1357C>A
  • NM_001407874.1:c.1276C>A
  • NM_001407875.1:c.1276C>A
  • NM_001407879.1:c.1270C>A
  • NM_001407881.1:c.1270C>A
  • NM_001407882.1:c.1270C>A
  • NM_001407884.1:c.1270C>A
  • NM_001407885.1:c.1270C>A
  • NM_001407886.1:c.1270C>A
  • NM_001407887.1:c.1270C>A
  • NM_001407889.1:c.1270C>A
  • NM_001407894.1:c.1267C>A
  • NM_001407895.1:c.1267C>A
  • NM_001407896.1:c.1267C>A
  • NM_001407897.1:c.1267C>A
  • NM_001407898.1:c.1267C>A
  • NM_001407899.1:c.1267C>A
  • NM_001407900.1:c.1270C>A
  • NM_001407902.1:c.1270C>A
  • NM_001407904.1:c.1270C>A
  • NM_001407906.1:c.1270C>A
  • NM_001407907.1:c.1270C>A
  • NM_001407908.1:c.1270C>A
  • NM_001407909.1:c.1270C>A
  • NM_001407910.1:c.1270C>A
  • NM_001407915.1:c.1267C>A
  • NM_001407916.1:c.1267C>A
  • NM_001407917.1:c.1267C>A
  • NM_001407918.1:c.1267C>A
  • NM_001407919.1:c.1357C>A
  • NM_001407920.1:c.1216C>A
  • NM_001407921.1:c.1216C>A
  • NM_001407922.1:c.1216C>A
  • NM_001407923.1:c.1216C>A
  • NM_001407924.1:c.1216C>A
  • NM_001407925.1:c.1216C>A
  • NM_001407926.1:c.1216C>A
  • NM_001407927.1:c.1216C>A
  • NM_001407928.1:c.1216C>A
  • NM_001407929.1:c.1216C>A
  • NM_001407930.1:c.1213C>A
  • NM_001407931.1:c.1213C>A
  • NM_001407932.1:c.1213C>A
  • NM_001407933.1:c.1216C>A
  • NM_001407934.1:c.1213C>A
  • NM_001407935.1:c.1216C>A
  • NM_001407936.1:c.1213C>A
  • NM_001407937.1:c.1357C>A
  • NM_001407938.1:c.1357C>A
  • NM_001407939.1:c.1357C>A
  • NM_001407940.1:c.1354C>A
  • NM_001407941.1:c.1354C>A
  • NM_001407942.1:c.1339C>A
  • NM_001407943.1:c.1336C>A
  • NM_001407944.1:c.1339C>A
  • NM_001407945.1:c.1339C>A
  • NM_001407946.1:c.1147C>A
  • NM_001407947.1:c.1147C>A
  • NM_001407948.1:c.1147C>A
  • NM_001407949.1:c.1147C>A
  • NM_001407950.1:c.1147C>A
  • NM_001407951.1:c.1147C>A
  • NM_001407952.1:c.1147C>A
  • NM_001407953.1:c.1147C>A
  • NM_001407954.1:c.1144C>A
  • NM_001407955.1:c.1144C>A
  • NM_001407956.1:c.1144C>A
  • NM_001407957.1:c.1147C>A
  • NM_001407958.1:c.1144C>A
  • NM_001407959.1:c.1099C>A
  • NM_001407960.1:c.1099C>A
  • NM_001407962.1:c.1096C>A
  • NM_001407963.1:c.1099C>A
  • NM_001407964.1:c.1336C>A
  • NM_001407965.1:c.976C>A
  • NM_001407966.1:c.592C>A
  • NM_001407967.1:c.592C>A
  • NM_001407968.1:c.787+693C>A
  • NM_001407969.1:c.787+693C>A
  • NM_001407970.1:c.787+693C>A
  • NM_001407971.1:c.787+693C>A
  • NM_001407972.1:c.784+693C>A
  • NM_001407973.1:c.787+693C>A
  • NM_001407974.1:c.787+693C>A
  • NM_001407975.1:c.787+693C>A
  • NM_001407976.1:c.787+693C>A
  • NM_001407977.1:c.787+693C>A
  • NM_001407978.1:c.787+693C>A
  • NM_001407979.1:c.787+693C>A
  • NM_001407980.1:c.787+693C>A
  • NM_001407981.1:c.787+693C>A
  • NM_001407982.1:c.787+693C>A
  • NM_001407983.1:c.787+693C>A
  • NM_001407984.1:c.784+693C>A
  • NM_001407985.1:c.784+693C>A
  • NM_001407986.1:c.784+693C>A
  • NM_001407990.1:c.787+693C>A
  • NM_001407991.1:c.784+693C>A
  • NM_001407992.1:c.784+693C>A
  • NM_001407993.1:c.787+693C>A
  • NM_001408392.1:c.784+693C>A
  • NM_001408396.1:c.784+693C>A
  • NM_001408397.1:c.784+693C>A
  • NM_001408398.1:c.784+693C>A
  • NM_001408399.1:c.784+693C>A
  • NM_001408400.1:c.784+693C>A
  • NM_001408401.1:c.784+693C>A
  • NM_001408402.1:c.784+693C>A
  • NM_001408403.1:c.787+693C>A
  • NM_001408404.1:c.787+693C>A
  • NM_001408406.1:c.790+690C>A
  • NM_001408407.1:c.784+693C>A
  • NM_001408408.1:c.778+693C>A
  • NM_001408409.1:c.709+693C>A
  • NM_001408410.1:c.646+693C>A
  • NM_001408411.1:c.709+693C>A
  • NM_001408412.1:c.709+693C>A
  • NM_001408413.1:c.706+693C>A
  • NM_001408414.1:c.709+693C>A
  • NM_001408415.1:c.709+693C>A
  • NM_001408416.1:c.706+693C>A
  • NM_001408418.1:c.670+1795C>A
  • NM_001408419.1:c.670+1795C>A
  • NM_001408420.1:c.670+1795C>A
  • NM_001408421.1:c.667+1795C>A
  • NM_001408422.1:c.670+1795C>A
  • NM_001408423.1:c.670+1795C>A
  • NM_001408424.1:c.667+1795C>A
  • NM_001408425.1:c.664+693C>A
  • NM_001408426.1:c.664+693C>A
  • NM_001408427.1:c.664+693C>A
  • NM_001408428.1:c.664+693C>A
  • NM_001408429.1:c.664+693C>A
  • NM_001408430.1:c.664+693C>A
  • NM_001408431.1:c.667+1795C>A
  • NM_001408432.1:c.661+693C>A
  • NM_001408433.1:c.661+693C>A
  • NM_001408434.1:c.661+693C>A
  • NM_001408435.1:c.661+693C>A
  • NM_001408436.1:c.664+693C>A
  • NM_001408437.1:c.664+693C>A
  • NM_001408438.1:c.664+693C>A
  • NM_001408439.1:c.664+693C>A
  • NM_001408440.1:c.664+693C>A
  • NM_001408441.1:c.664+693C>A
  • NM_001408442.1:c.664+693C>A
  • NM_001408443.1:c.664+693C>A
  • NM_001408444.1:c.664+693C>A
  • NM_001408445.1:c.661+693C>A
  • NM_001408446.1:c.661+693C>A
  • NM_001408447.1:c.661+693C>A
  • NM_001408448.1:c.661+693C>A
  • NM_001408450.1:c.661+693C>A
  • NM_001408451.1:c.652+693C>A
  • NM_001408452.1:c.646+693C>A
  • NM_001408453.1:c.646+693C>A
  • NM_001408454.1:c.646+693C>A
  • NM_001408455.1:c.646+693C>A
  • NM_001408456.1:c.646+693C>A
  • NM_001408457.1:c.646+693C>A
  • NM_001408458.1:c.646+693C>A
  • NM_001408459.1:c.646+693C>A
  • NM_001408460.1:c.646+693C>A
  • NM_001408461.1:c.646+693C>A
  • NM_001408462.1:c.643+693C>A
  • NM_001408463.1:c.643+693C>A
  • NM_001408464.1:c.643+693C>A
  • NM_001408465.1:c.643+693C>A
  • NM_001408466.1:c.646+693C>A
  • NM_001408467.1:c.646+693C>A
  • NM_001408468.1:c.643+693C>A
  • NM_001408469.1:c.646+693C>A
  • NM_001408470.1:c.643+693C>A
  • NM_001408472.1:c.787+693C>A
  • NM_001408473.1:c.784+693C>A
  • NM_001408474.1:c.586+693C>A
  • NM_001408475.1:c.583+693C>A
  • NM_001408476.1:c.586+693C>A
  • NM_001408478.1:c.577+693C>A
  • NM_001408479.1:c.577+693C>A
  • NM_001408480.1:c.577+693C>A
  • NM_001408481.1:c.577+693C>A
  • NM_001408482.1:c.577+693C>A
  • NM_001408483.1:c.577+693C>A
  • NM_001408484.1:c.577+693C>A
  • NM_001408485.1:c.577+693C>A
  • NM_001408489.1:c.577+693C>A
  • NM_001408490.1:c.574+693C>A
  • NM_001408491.1:c.574+693C>A
  • NM_001408492.1:c.577+693C>A
  • NM_001408493.1:c.574+693C>A
  • NM_001408494.1:c.548-3019C>A
  • NM_001408495.1:c.545-3019C>A
  • NM_001408496.1:c.523+693C>A
  • NM_001408497.1:c.523+693C>A
  • NM_001408498.1:c.523+693C>A
  • NM_001408499.1:c.523+693C>A
  • NM_001408500.1:c.523+693C>A
  • NM_001408501.1:c.523+693C>A
  • NM_001408502.1:c.454+693C>A
  • NM_001408503.1:c.520+693C>A
  • NM_001408504.1:c.520+693C>A
  • NM_001408505.1:c.520+693C>A
  • NM_001408506.1:c.460+1795C>A
  • NM_001408507.1:c.460+1795C>A
  • NM_001408508.1:c.451+693C>A
  • NM_001408509.1:c.451+693C>A
  • NM_001408510.1:c.406+693C>A
  • NM_001408511.1:c.404-3019C>A
  • NM_001408512.1:c.283+693C>A
  • NM_001408513.1:c.577+693C>A
  • NM_001408514.1:c.577+693C>A
  • NM_007294.4:c.1480C>AMANE SELECT
  • NM_007297.4:c.1339C>A
  • NM_007298.4:c.787+693C>A
  • NM_007299.4:c.787+693C>A
  • NM_007300.4:c.1480C>A
  • NP_001394500.1:p.Gln423Lys
  • NP_001394510.1:p.Gln494Lys
  • NP_001394511.1:p.Gln494Lys
  • NP_001394512.1:p.Gln494Lys
  • NP_001394514.1:p.Gln494Lys
  • NP_001394516.1:p.Gln493Lys
  • NP_001394519.1:p.Gln493Lys
  • NP_001394520.1:p.Gln493Lys
  • NP_001394522.1:p.Gln494Lys
  • NP_001394523.1:p.Gln494Lys
  • NP_001394525.1:p.Gln494Lys
  • NP_001394526.1:p.Gln494Lys
  • NP_001394527.1:p.Gln494Lys
  • NP_001394531.1:p.Gln494Lys
  • NP_001394532.1:p.Gln494Lys
  • NP_001394534.1:p.Gln494Lys
  • NP_001394539.1:p.Gln493Lys
  • NP_001394540.1:p.Gln493Lys
  • NP_001394541.1:p.Gln493Lys
  • NP_001394542.1:p.Gln493Lys
  • NP_001394543.1:p.Gln493Lys
  • NP_001394544.1:p.Gln493Lys
  • NP_001394545.1:p.Gln494Lys
  • NP_001394546.1:p.Gln494Lys
  • NP_001394547.1:p.Gln494Lys
  • NP_001394548.1:p.Gln494Lys
  • NP_001394549.1:p.Gln494Lys
  • NP_001394550.1:p.Gln494Lys
  • NP_001394551.1:p.Gln494Lys
  • NP_001394552.1:p.Gln494Lys
  • NP_001394553.1:p.Gln494Lys
  • NP_001394554.1:p.Gln494Lys
  • NP_001394555.1:p.Gln494Lys
  • NP_001394556.1:p.Gln493Lys
  • NP_001394557.1:p.Gln493Lys
  • NP_001394558.1:p.Gln493Lys
  • NP_001394559.1:p.Gln493Lys
  • NP_001394560.1:p.Gln493Lys
  • NP_001394561.1:p.Gln493Lys
  • NP_001394562.1:p.Gln493Lys
  • NP_001394563.1:p.Gln493Lys
  • NP_001394564.1:p.Gln493Lys
  • NP_001394565.1:p.Gln493Lys
  • NP_001394566.1:p.Gln493Lys
  • NP_001394567.1:p.Gln493Lys
  • NP_001394568.1:p.Gln494Lys
  • NP_001394569.1:p.Gln494Lys
  • NP_001394570.1:p.Gln494Lys
  • NP_001394571.1:p.Gln494Lys
  • NP_001394573.1:p.Gln493Lys
  • NP_001394574.1:p.Gln493Lys
  • NP_001394575.1:p.Gln491Lys
  • NP_001394576.1:p.Gln491Lys
  • NP_001394577.1:p.Gln453Lys
  • NP_001394578.1:p.Gln452Lys
  • NP_001394581.1:p.Gln494Lys
  • NP_001394582.1:p.Gln468Lys
  • NP_001394583.1:p.Gln468Lys
  • NP_001394584.1:p.Gln468Lys
  • NP_001394585.1:p.Gln468Lys
  • NP_001394586.1:p.Gln468Lys
  • NP_001394587.1:p.Gln468Lys
  • NP_001394588.1:p.Gln467Lys
  • NP_001394589.1:p.Gln467Lys
  • NP_001394590.1:p.Gln467Lys
  • NP_001394591.1:p.Gln467Lys
  • NP_001394592.1:p.Gln468Lys
  • NP_001394593.1:p.Gln453Lys
  • NP_001394594.1:p.Gln453Lys
  • NP_001394595.1:p.Gln453Lys
  • NP_001394596.1:p.Gln453Lys
  • NP_001394597.1:p.Gln453Lys
  • NP_001394598.1:p.Gln453Lys
  • NP_001394599.1:p.Gln452Lys
  • NP_001394600.1:p.Gln452Lys
  • NP_001394601.1:p.Gln452Lys
  • NP_001394602.1:p.Gln452Lys
  • NP_001394603.1:p.Gln453Lys
  • NP_001394604.1:p.Gln453Lys
  • NP_001394605.1:p.Gln453Lys
  • NP_001394606.1:p.Gln453Lys
  • NP_001394607.1:p.Gln453Lys
  • NP_001394608.1:p.Gln453Lys
  • NP_001394609.1:p.Gln453Lys
  • NP_001394610.1:p.Gln453Lys
  • NP_001394611.1:p.Gln453Lys
  • NP_001394612.1:p.Gln453Lys
  • NP_001394613.1:p.Gln494Lys
  • NP_001394614.1:p.Gln452Lys
  • NP_001394615.1:p.Gln452Lys
  • NP_001394616.1:p.Gln452Lys
  • NP_001394617.1:p.Gln452Lys
  • NP_001394618.1:p.Gln452Lys
  • NP_001394619.1:p.Gln452Lys
  • NP_001394620.1:p.Gln452Lys
  • NP_001394621.1:p.Gln447Lys
  • NP_001394623.1:p.Gln447Lys
  • NP_001394624.1:p.Gln447Lys
  • NP_001394625.1:p.Gln447Lys
  • NP_001394626.1:p.Gln447Lys
  • NP_001394627.1:p.Gln447Lys
  • NP_001394653.1:p.Gln447Lys
  • NP_001394654.1:p.Gln447Lys
  • NP_001394655.1:p.Gln447Lys
  • NP_001394656.1:p.Gln447Lys
  • NP_001394657.1:p.Gln447Lys
  • NP_001394658.1:p.Gln447Lys
  • NP_001394659.1:p.Gln447Lys
  • NP_001394660.1:p.Gln447Lys
  • NP_001394661.1:p.Gln447Lys
  • NP_001394662.1:p.Gln447Lys
  • NP_001394663.1:p.Gln447Lys
  • NP_001394664.1:p.Gln447Lys
  • NP_001394665.1:p.Gln447Lys
  • NP_001394666.1:p.Gln447Lys
  • NP_001394667.1:p.Gln447Lys
  • NP_001394668.1:p.Gln447Lys
  • NP_001394669.1:p.Gln446Lys
  • NP_001394670.1:p.Gln446Lys
  • NP_001394671.1:p.Gln446Lys
  • NP_001394672.1:p.Gln446Lys
  • NP_001394673.1:p.Gln446Lys
  • NP_001394674.1:p.Gln446Lys
  • NP_001394675.1:p.Gln446Lys
  • NP_001394676.1:p.Gln446Lys
  • NP_001394677.1:p.Gln446Lys
  • NP_001394678.1:p.Gln446Lys
  • NP_001394679.1:p.Gln447Lys
  • NP_001394680.1:p.Gln447Lys
  • NP_001394681.1:p.Gln447Lys
  • NP_001394767.1:p.Gln446Lys
  • NP_001394768.1:p.Gln446Lys
  • NP_001394770.1:p.Gln446Lys
  • NP_001394771.1:p.Gln446Lys
  • NP_001394772.1:p.Gln446Lys
  • NP_001394773.1:p.Gln446Lys
  • NP_001394774.1:p.Gln446Lys
  • NP_001394775.1:p.Gln446Lys
  • NP_001394776.1:p.Gln446Lys
  • NP_001394777.1:p.Gln446Lys
  • NP_001394778.1:p.Gln446Lys
  • NP_001394779.1:p.Gln447Lys
  • NP_001394780.1:p.Gln447Lys
  • NP_001394781.1:p.Gln447Lys
  • NP_001394782.1:p.Gln423Lys
  • NP_001394783.1:p.Gln494Lys
  • NP_001394787.1:p.Gln494Lys
  • NP_001394788.1:p.Gln494Lys
  • NP_001394789.1:p.Gln493Lys
  • NP_001394790.1:p.Gln493Lys
  • NP_001394791.1:p.Gln427Lys
  • NP_001394792.1:p.Gln453Lys
  • NP_001394803.1:p.Gln426Lys
  • NP_001394804.1:p.Gln426Lys
  • NP_001394808.1:p.Gln424Lys
  • NP_001394810.1:p.Gln424Lys
  • NP_001394811.1:p.Gln424Lys
  • NP_001394813.1:p.Gln424Lys
  • NP_001394814.1:p.Gln424Lys
  • NP_001394815.1:p.Gln424Lys
  • NP_001394816.1:p.Gln424Lys
  • NP_001394818.1:p.Gln424Lys
  • NP_001394823.1:p.Gln423Lys
  • NP_001394824.1:p.Gln423Lys
  • NP_001394825.1:p.Gln423Lys
  • NP_001394826.1:p.Gln423Lys
  • NP_001394827.1:p.Gln423Lys
  • NP_001394828.1:p.Gln423Lys
  • NP_001394829.1:p.Gln424Lys
  • NP_001394831.1:p.Gln424Lys
  • NP_001394833.1:p.Gln424Lys
  • NP_001394835.1:p.Gln424Lys
  • NP_001394836.1:p.Gln424Lys
  • NP_001394837.1:p.Gln424Lys
  • NP_001394838.1:p.Gln424Lys
  • NP_001394839.1:p.Gln424Lys
  • NP_001394844.1:p.Gln423Lys
  • NP_001394845.1:p.Gln423Lys
  • NP_001394846.1:p.Gln423Lys
  • NP_001394847.1:p.Gln423Lys
  • NP_001394848.1:p.Gln453Lys
  • NP_001394849.1:p.Gln406Lys
  • NP_001394850.1:p.Gln406Lys
  • NP_001394851.1:p.Gln406Lys
  • NP_001394852.1:p.Gln406Lys
  • NP_001394853.1:p.Gln406Lys
  • NP_001394854.1:p.Gln406Lys
  • NP_001394855.1:p.Gln406Lys
  • NP_001394856.1:p.Gln406Lys
  • NP_001394857.1:p.Gln406Lys
  • NP_001394858.1:p.Gln406Lys
  • NP_001394859.1:p.Gln405Lys
  • NP_001394860.1:p.Gln405Lys
  • NP_001394861.1:p.Gln405Lys
  • NP_001394862.1:p.Gln406Lys
  • NP_001394863.1:p.Gln405Lys
  • NP_001394864.1:p.Gln406Lys
  • NP_001394865.1:p.Gln405Lys
  • NP_001394866.1:p.Gln453Lys
  • NP_001394867.1:p.Gln453Lys
  • NP_001394868.1:p.Gln453Lys
  • NP_001394869.1:p.Gln452Lys
  • NP_001394870.1:p.Gln452Lys
  • NP_001394871.1:p.Gln447Lys
  • NP_001394872.1:p.Gln446Lys
  • NP_001394873.1:p.Gln447Lys
  • NP_001394874.1:p.Gln447Lys
  • NP_001394875.1:p.Gln383Lys
  • NP_001394876.1:p.Gln383Lys
  • NP_001394877.1:p.Gln383Lys
  • NP_001394878.1:p.Gln383Lys
  • NP_001394879.1:p.Gln383Lys
  • NP_001394880.1:p.Gln383Lys
  • NP_001394881.1:p.Gln383Lys
  • NP_001394882.1:p.Gln383Lys
  • NP_001394883.1:p.Gln382Lys
  • NP_001394884.1:p.Gln382Lys
  • NP_001394885.1:p.Gln382Lys
  • NP_001394886.1:p.Gln383Lys
  • NP_001394887.1:p.Gln382Lys
  • NP_001394888.1:p.Gln367Lys
  • NP_001394889.1:p.Gln367Lys
  • NP_001394891.1:p.Gln366Lys
  • NP_001394892.1:p.Gln367Lys
  • NP_001394893.1:p.Gln446Lys
  • NP_001394894.1:p.Gln326Lys
  • NP_001394895.1:p.Gln198Lys
  • NP_001394896.1:p.Gln198Lys
  • NP_009225.1:p.Gln494Lys
  • NP_009225.1:p.Gln494Lys
  • NP_009228.2:p.Gln447Lys
  • NP_009231.2:p.Gln494Lys
  • LRG_292t1:c.1480C>A
  • LRG_292:g.123933C>A
  • LRG_292p1:p.Gln494Lys
  • NC_000017.10:g.41246068G>T
  • NM_007294.3:c.1480C>A
  • NR_027676.2:n.1657C>A
Protein change:
Q198K
Molecular consequence:
  • NM_001407968.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+690C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3019C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3019C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1795C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3019C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+693C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1471C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1471C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1399C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1399C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1399C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1399C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1402C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1477C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1279C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1276C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1276C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1270C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1267C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1213C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1213C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1213C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1213C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1216C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1213C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1357C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1354C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1144C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1144C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1144C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1147C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1144C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1099C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1099C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1096C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1099C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.976C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.592C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1480C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1339C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1480C>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004058479Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 12, 2023) 		germlineclinical testing

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

Citation Link,

SCV004361059Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 25, 2021) 		germlineclinical testing

PubMed (2)
[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

BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia.

Mundhofir FE, Wulandari CE, Prajoko YW, Winarni TI.

Asian Pac J Cancer Prev. 2016;17(3):1539-46.

PubMed [citation]
PMID:
27039803

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

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

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

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Ambry Genetics, SCV004058479.2

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

Description

The p.Q494K variant (also known as c.1480C>A), located in coding exon 9 of the BRCA1 gene, results from a C to A substitution at nucleotide position 1480. The glutamine at codon 494 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in both cases with breast cancer and healthy controls in a study of individuals from Indonesia (Mundhofir FE et al. Asian Pac J Cancer Prev, 2016;17:1539-46). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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, SCV004361059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This missense variant replaces glutamine with lysine at codon 494 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). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in three individuals affected with early-onset or familial breast cancer and also in eight unaffected individuals (PMID: 27039803). 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

Last Updated: Sep 29, 2024