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NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) AND not specified

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Sep 18, 2022
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:
RCV000159868.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)]

NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)

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.1397G>A (p.Arg466Gln)
Other names:
p.R466Q:CGG>CAG
HGVS:
  • NC_000017.11:g.43094134C>T
  • NG_005905.2:g.123850G>A
  • NM_001407571.1:c.1184G>A
  • NM_001407581.1:c.1397G>A
  • NM_001407582.1:c.1397G>A
  • NM_001407583.1:c.1397G>A
  • NM_001407585.1:c.1397G>A
  • NM_001407587.1:c.1394G>A
  • NM_001407590.1:c.1394G>A
  • NM_001407591.1:c.1394G>A
  • NM_001407593.1:c.1397G>A
  • NM_001407594.1:c.1397G>A
  • NM_001407596.1:c.1397G>A
  • NM_001407597.1:c.1397G>A
  • NM_001407598.1:c.1397G>A
  • NM_001407602.1:c.1397G>A
  • NM_001407603.1:c.1397G>A
  • NM_001407605.1:c.1397G>A
  • NM_001407610.1:c.1394G>A
  • NM_001407611.1:c.1394G>A
  • NM_001407612.1:c.1394G>A
  • NM_001407613.1:c.1394G>A
  • NM_001407614.1:c.1394G>A
  • NM_001407615.1:c.1394G>A
  • NM_001407616.1:c.1397G>A
  • NM_001407617.1:c.1397G>A
  • NM_001407618.1:c.1397G>A
  • NM_001407619.1:c.1397G>A
  • NM_001407620.1:c.1397G>A
  • NM_001407621.1:c.1397G>A
  • NM_001407622.1:c.1397G>A
  • NM_001407623.1:c.1397G>A
  • NM_001407624.1:c.1397G>A
  • NM_001407625.1:c.1397G>A
  • NM_001407626.1:c.1397G>A
  • NM_001407627.1:c.1394G>A
  • NM_001407628.1:c.1394G>A
  • NM_001407629.1:c.1394G>A
  • NM_001407630.1:c.1394G>A
  • NM_001407631.1:c.1394G>A
  • NM_001407632.1:c.1394G>A
  • NM_001407633.1:c.1394G>A
  • NM_001407634.1:c.1394G>A
  • NM_001407635.1:c.1394G>A
  • NM_001407636.1:c.1394G>A
  • NM_001407637.1:c.1394G>A
  • NM_001407638.1:c.1394G>A
  • NM_001407639.1:c.1397G>A
  • NM_001407640.1:c.1397G>A
  • NM_001407641.1:c.1397G>A
  • NM_001407642.1:c.1397G>A
  • NM_001407644.1:c.1394G>A
  • NM_001407645.1:c.1394G>A
  • NM_001407646.1:c.1388G>A
  • NM_001407647.1:c.1388G>A
  • NM_001407648.1:c.1274G>A
  • NM_001407649.1:c.1271G>A
  • NM_001407652.1:c.1397G>A
  • NM_001407653.1:c.1319G>A
  • NM_001407654.1:c.1319G>A
  • NM_001407655.1:c.1319G>A
  • NM_001407656.1:c.1319G>A
  • NM_001407657.1:c.1319G>A
  • NM_001407658.1:c.1319G>A
  • NM_001407659.1:c.1316G>A
  • NM_001407660.1:c.1316G>A
  • NM_001407661.1:c.1316G>A
  • NM_001407662.1:c.1316G>A
  • NM_001407663.1:c.1319G>A
  • NM_001407664.1:c.1274G>A
  • NM_001407665.1:c.1274G>A
  • NM_001407666.1:c.1274G>A
  • NM_001407667.1:c.1274G>A
  • NM_001407668.1:c.1274G>A
  • NM_001407669.1:c.1274G>A
  • NM_001407670.1:c.1271G>A
  • NM_001407671.1:c.1271G>A
  • NM_001407672.1:c.1271G>A
  • NM_001407673.1:c.1271G>A
  • NM_001407674.1:c.1274G>A
  • NM_001407675.1:c.1274G>A
  • NM_001407676.1:c.1274G>A
  • NM_001407677.1:c.1274G>A
  • NM_001407678.1:c.1274G>A
  • NM_001407679.1:c.1274G>A
  • NM_001407680.1:c.1274G>A
  • NM_001407681.1:c.1274G>A
  • NM_001407682.1:c.1274G>A
  • NM_001407683.1:c.1274G>A
  • NM_001407684.1:c.1397G>A
  • NM_001407685.1:c.1271G>A
  • NM_001407686.1:c.1271G>A
  • NM_001407687.1:c.1271G>A
  • NM_001407688.1:c.1271G>A
  • NM_001407689.1:c.1271G>A
  • NM_001407690.1:c.1271G>A
  • NM_001407691.1:c.1271G>A
  • NM_001407692.1:c.1256G>A
  • NM_001407694.1:c.1256G>A
  • NM_001407695.1:c.1256G>A
  • NM_001407696.1:c.1256G>A
  • NM_001407697.1:c.1256G>A
  • NM_001407698.1:c.1256G>A
  • NM_001407724.1:c.1256G>A
  • NM_001407725.1:c.1256G>A
  • NM_001407726.1:c.1256G>A
  • NM_001407727.1:c.1256G>A
  • NM_001407728.1:c.1256G>A
  • NM_001407729.1:c.1256G>A
  • NM_001407730.1:c.1256G>A
  • NM_001407731.1:c.1256G>A
  • NM_001407732.1:c.1256G>A
  • NM_001407733.1:c.1256G>A
  • NM_001407734.1:c.1256G>A
  • NM_001407735.1:c.1256G>A
  • NM_001407736.1:c.1256G>A
  • NM_001407737.1:c.1256G>A
  • NM_001407738.1:c.1256G>A
  • NM_001407739.1:c.1256G>A
  • NM_001407740.1:c.1253G>A
  • NM_001407741.1:c.1253G>A
  • NM_001407742.1:c.1253G>A
  • NM_001407743.1:c.1253G>A
  • NM_001407744.1:c.1253G>A
  • NM_001407745.1:c.1253G>A
  • NM_001407746.1:c.1253G>A
  • NM_001407747.1:c.1253G>A
  • NM_001407748.1:c.1253G>A
  • NM_001407749.1:c.1253G>A
  • NM_001407750.1:c.1256G>A
  • NM_001407751.1:c.1256G>A
  • NM_001407752.1:c.1256G>A
  • NM_001407838.1:c.1253G>A
  • NM_001407839.1:c.1253G>A
  • NM_001407841.1:c.1253G>A
  • NM_001407842.1:c.1253G>A
  • NM_001407843.1:c.1253G>A
  • NM_001407844.1:c.1253G>A
  • NM_001407845.1:c.1253G>A
  • NM_001407846.1:c.1253G>A
  • NM_001407847.1:c.1253G>A
  • NM_001407848.1:c.1253G>A
  • NM_001407849.1:c.1253G>A
  • NM_001407850.1:c.1256G>A
  • NM_001407851.1:c.1256G>A
  • NM_001407852.1:c.1256G>A
  • NM_001407853.1:c.1184G>A
  • NM_001407854.1:c.1397G>A
  • NM_001407858.1:c.1397G>A
  • NM_001407859.1:c.1397G>A
  • NM_001407860.1:c.1394G>A
  • NM_001407861.1:c.1394G>A
  • NM_001407862.1:c.1196G>A
  • NM_001407863.1:c.1274G>A
  • NM_001407874.1:c.1193G>A
  • NM_001407875.1:c.1193G>A
  • NM_001407879.1:c.1187G>A
  • NM_001407881.1:c.1187G>A
  • NM_001407882.1:c.1187G>A
  • NM_001407884.1:c.1187G>A
  • NM_001407885.1:c.1187G>A
  • NM_001407886.1:c.1187G>A
  • NM_001407887.1:c.1187G>A
  • NM_001407889.1:c.1187G>A
  • NM_001407894.1:c.1184G>A
  • NM_001407895.1:c.1184G>A
  • NM_001407896.1:c.1184G>A
  • NM_001407897.1:c.1184G>A
  • NM_001407898.1:c.1184G>A
  • NM_001407899.1:c.1184G>A
  • NM_001407900.1:c.1187G>A
  • NM_001407902.1:c.1187G>A
  • NM_001407904.1:c.1187G>A
  • NM_001407906.1:c.1187G>A
  • NM_001407907.1:c.1187G>A
  • NM_001407908.1:c.1187G>A
  • NM_001407909.1:c.1187G>A
  • NM_001407910.1:c.1187G>A
  • NM_001407915.1:c.1184G>A
  • NM_001407916.1:c.1184G>A
  • NM_001407917.1:c.1184G>A
  • NM_001407918.1:c.1184G>A
  • NM_001407919.1:c.1274G>A
  • NM_001407920.1:c.1133G>A
  • NM_001407921.1:c.1133G>A
  • NM_001407922.1:c.1133G>A
  • NM_001407923.1:c.1133G>A
  • NM_001407924.1:c.1133G>A
  • NM_001407925.1:c.1133G>A
  • NM_001407926.1:c.1133G>A
  • NM_001407927.1:c.1133G>A
  • NM_001407928.1:c.1133G>A
  • NM_001407929.1:c.1133G>A
  • NM_001407930.1:c.1130G>A
  • NM_001407931.1:c.1130G>A
  • NM_001407932.1:c.1130G>A
  • NM_001407933.1:c.1133G>A
  • NM_001407934.1:c.1130G>A
  • NM_001407935.1:c.1133G>A
  • NM_001407936.1:c.1130G>A
  • NM_001407937.1:c.1274G>A
  • NM_001407938.1:c.1274G>A
  • NM_001407939.1:c.1274G>A
  • NM_001407940.1:c.1271G>A
  • NM_001407941.1:c.1271G>A
  • NM_001407942.1:c.1256G>A
  • NM_001407943.1:c.1253G>A
  • NM_001407944.1:c.1256G>A
  • NM_001407945.1:c.1256G>A
  • NM_001407946.1:c.1064G>A
  • NM_001407947.1:c.1064G>A
  • NM_001407948.1:c.1064G>A
  • NM_001407949.1:c.1064G>A
  • NM_001407950.1:c.1064G>A
  • NM_001407951.1:c.1064G>A
  • NM_001407952.1:c.1064G>A
  • NM_001407953.1:c.1064G>A
  • NM_001407954.1:c.1061G>A
  • NM_001407955.1:c.1061G>A
  • NM_001407956.1:c.1061G>A
  • NM_001407957.1:c.1064G>A
  • NM_001407958.1:c.1061G>A
  • NM_001407959.1:c.1016G>A
  • NM_001407960.1:c.1016G>A
  • NM_001407962.1:c.1013G>A
  • NM_001407963.1:c.1016G>A
  • NM_001407964.1:c.1253G>A
  • NM_001407965.1:c.893G>A
  • NM_001407966.1:c.509G>A
  • NM_001407967.1:c.509G>A
  • NM_001407968.1:c.787+610G>A
  • NM_001407969.1:c.787+610G>A
  • NM_001407970.1:c.787+610G>A
  • NM_001407971.1:c.787+610G>A
  • NM_001407972.1:c.784+610G>A
  • NM_001407973.1:c.787+610G>A
  • NM_001407974.1:c.787+610G>A
  • NM_001407975.1:c.787+610G>A
  • NM_001407976.1:c.787+610G>A
  • NM_001407977.1:c.787+610G>A
  • NM_001407978.1:c.787+610G>A
  • NM_001407979.1:c.787+610G>A
  • NM_001407980.1:c.787+610G>A
  • NM_001407981.1:c.787+610G>A
  • NM_001407982.1:c.787+610G>A
  • NM_001407983.1:c.787+610G>A
  • NM_001407984.1:c.784+610G>A
  • NM_001407985.1:c.784+610G>A
  • NM_001407986.1:c.784+610G>A
  • NM_001407990.1:c.787+610G>A
  • NM_001407991.1:c.784+610G>A
  • NM_001407992.1:c.784+610G>A
  • NM_001407993.1:c.787+610G>A
  • NM_001408392.1:c.784+610G>A
  • NM_001408396.1:c.784+610G>A
  • NM_001408397.1:c.784+610G>A
  • NM_001408398.1:c.784+610G>A
  • NM_001408399.1:c.784+610G>A
  • NM_001408400.1:c.784+610G>A
  • NM_001408401.1:c.784+610G>A
  • NM_001408402.1:c.784+610G>A
  • NM_001408403.1:c.787+610G>A
  • NM_001408404.1:c.787+610G>A
  • NM_001408406.1:c.790+607G>A
  • NM_001408407.1:c.784+610G>A
  • NM_001408408.1:c.778+610G>A
  • NM_001408409.1:c.709+610G>A
  • NM_001408410.1:c.646+610G>A
  • NM_001408411.1:c.709+610G>A
  • NM_001408412.1:c.709+610G>A
  • NM_001408413.1:c.706+610G>A
  • NM_001408414.1:c.709+610G>A
  • NM_001408415.1:c.709+610G>A
  • NM_001408416.1:c.706+610G>A
  • NM_001408418.1:c.670+1712G>A
  • NM_001408419.1:c.670+1712G>A
  • NM_001408420.1:c.670+1712G>A
  • NM_001408421.1:c.667+1712G>A
  • NM_001408422.1:c.670+1712G>A
  • NM_001408423.1:c.670+1712G>A
  • NM_001408424.1:c.667+1712G>A
  • NM_001408425.1:c.664+610G>A
  • NM_001408426.1:c.664+610G>A
  • NM_001408427.1:c.664+610G>A
  • NM_001408428.1:c.664+610G>A
  • NM_001408429.1:c.664+610G>A
  • NM_001408430.1:c.664+610G>A
  • NM_001408431.1:c.667+1712G>A
  • NM_001408432.1:c.661+610G>A
  • NM_001408433.1:c.661+610G>A
  • NM_001408434.1:c.661+610G>A
  • NM_001408435.1:c.661+610G>A
  • NM_001408436.1:c.664+610G>A
  • NM_001408437.1:c.664+610G>A
  • NM_001408438.1:c.664+610G>A
  • NM_001408439.1:c.664+610G>A
  • NM_001408440.1:c.664+610G>A
  • NM_001408441.1:c.664+610G>A
  • NM_001408442.1:c.664+610G>A
  • NM_001408443.1:c.664+610G>A
  • NM_001408444.1:c.664+610G>A
  • NM_001408445.1:c.661+610G>A
  • NM_001408446.1:c.661+610G>A
  • NM_001408447.1:c.661+610G>A
  • NM_001408448.1:c.661+610G>A
  • NM_001408450.1:c.661+610G>A
  • NM_001408451.1:c.652+610G>A
  • NM_001408452.1:c.646+610G>A
  • NM_001408453.1:c.646+610G>A
  • NM_001408454.1:c.646+610G>A
  • NM_001408455.1:c.646+610G>A
  • NM_001408456.1:c.646+610G>A
  • NM_001408457.1:c.646+610G>A
  • NM_001408458.1:c.646+610G>A
  • NM_001408459.1:c.646+610G>A
  • NM_001408460.1:c.646+610G>A
  • NM_001408461.1:c.646+610G>A
  • NM_001408462.1:c.643+610G>A
  • NM_001408463.1:c.643+610G>A
  • NM_001408464.1:c.643+610G>A
  • NM_001408465.1:c.643+610G>A
  • NM_001408466.1:c.646+610G>A
  • NM_001408467.1:c.646+610G>A
  • NM_001408468.1:c.643+610G>A
  • NM_001408469.1:c.646+610G>A
  • NM_001408470.1:c.643+610G>A
  • NM_001408472.1:c.787+610G>A
  • NM_001408473.1:c.784+610G>A
  • NM_001408474.1:c.586+610G>A
  • NM_001408475.1:c.583+610G>A
  • NM_001408476.1:c.586+610G>A
  • NM_001408478.1:c.577+610G>A
  • NM_001408479.1:c.577+610G>A
  • NM_001408480.1:c.577+610G>A
  • NM_001408481.1:c.577+610G>A
  • NM_001408482.1:c.577+610G>A
  • NM_001408483.1:c.577+610G>A
  • NM_001408484.1:c.577+610G>A
  • NM_001408485.1:c.577+610G>A
  • NM_001408489.1:c.577+610G>A
  • NM_001408490.1:c.574+610G>A
  • NM_001408491.1:c.574+610G>A
  • NM_001408492.1:c.577+610G>A
  • NM_001408493.1:c.574+610G>A
  • NM_001408494.1:c.548-3102G>A
  • NM_001408495.1:c.545-3102G>A
  • NM_001408496.1:c.523+610G>A
  • NM_001408497.1:c.523+610G>A
  • NM_001408498.1:c.523+610G>A
  • NM_001408499.1:c.523+610G>A
  • NM_001408500.1:c.523+610G>A
  • NM_001408501.1:c.523+610G>A
  • NM_001408502.1:c.454+610G>A
  • NM_001408503.1:c.520+610G>A
  • NM_001408504.1:c.520+610G>A
  • NM_001408505.1:c.520+610G>A
  • NM_001408506.1:c.460+1712G>A
  • NM_001408507.1:c.460+1712G>A
  • NM_001408508.1:c.451+610G>A
  • NM_001408509.1:c.451+610G>A
  • NM_001408510.1:c.406+610G>A
  • NM_001408511.1:c.404-3102G>A
  • NM_001408512.1:c.283+610G>A
  • NM_001408513.1:c.577+610G>A
  • NM_001408514.1:c.577+610G>A
  • NM_007294.4:c.1397G>AMANE SELECT
  • NM_007297.4:c.1256G>A
  • NM_007298.4:c.787+610G>A
  • NM_007299.4:c.787+610G>A
  • NM_007300.4:c.1397G>A
  • NP_001394500.1:p.Arg395Gln
  • NP_001394510.1:p.Arg466Gln
  • NP_001394511.1:p.Arg466Gln
  • NP_001394512.1:p.Arg466Gln
  • NP_001394514.1:p.Arg466Gln
  • NP_001394516.1:p.Arg465Gln
  • NP_001394519.1:p.Arg465Gln
  • NP_001394520.1:p.Arg465Gln
  • NP_001394522.1:p.Arg466Gln
  • NP_001394523.1:p.Arg466Gln
  • NP_001394525.1:p.Arg466Gln
  • NP_001394526.1:p.Arg466Gln
  • NP_001394527.1:p.Arg466Gln
  • NP_001394531.1:p.Arg466Gln
  • NP_001394532.1:p.Arg466Gln
  • NP_001394534.1:p.Arg466Gln
  • NP_001394539.1:p.Arg465Gln
  • NP_001394540.1:p.Arg465Gln
  • NP_001394541.1:p.Arg465Gln
  • NP_001394542.1:p.Arg465Gln
  • NP_001394543.1:p.Arg465Gln
  • NP_001394544.1:p.Arg465Gln
  • NP_001394545.1:p.Arg466Gln
  • NP_001394546.1:p.Arg466Gln
  • NP_001394547.1:p.Arg466Gln
  • NP_001394548.1:p.Arg466Gln
  • NP_001394549.1:p.Arg466Gln
  • NP_001394550.1:p.Arg466Gln
  • NP_001394551.1:p.Arg466Gln
  • NP_001394552.1:p.Arg466Gln
  • NP_001394553.1:p.Arg466Gln
  • NP_001394554.1:p.Arg466Gln
  • NP_001394555.1:p.Arg466Gln
  • NP_001394556.1:p.Arg465Gln
  • NP_001394557.1:p.Arg465Gln
  • NP_001394558.1:p.Arg465Gln
  • NP_001394559.1:p.Arg465Gln
  • NP_001394560.1:p.Arg465Gln
  • NP_001394561.1:p.Arg465Gln
  • NP_001394562.1:p.Arg465Gln
  • NP_001394563.1:p.Arg465Gln
  • NP_001394564.1:p.Arg465Gln
  • NP_001394565.1:p.Arg465Gln
  • NP_001394566.1:p.Arg465Gln
  • NP_001394567.1:p.Arg465Gln
  • NP_001394568.1:p.Arg466Gln
  • NP_001394569.1:p.Arg466Gln
  • NP_001394570.1:p.Arg466Gln
  • NP_001394571.1:p.Arg466Gln
  • NP_001394573.1:p.Arg465Gln
  • NP_001394574.1:p.Arg465Gln
  • NP_001394575.1:p.Arg463Gln
  • NP_001394576.1:p.Arg463Gln
  • NP_001394577.1:p.Arg425Gln
  • NP_001394578.1:p.Arg424Gln
  • NP_001394581.1:p.Arg466Gln
  • NP_001394582.1:p.Arg440Gln
  • NP_001394583.1:p.Arg440Gln
  • NP_001394584.1:p.Arg440Gln
  • NP_001394585.1:p.Arg440Gln
  • NP_001394586.1:p.Arg440Gln
  • NP_001394587.1:p.Arg440Gln
  • NP_001394588.1:p.Arg439Gln
  • NP_001394589.1:p.Arg439Gln
  • NP_001394590.1:p.Arg439Gln
  • NP_001394591.1:p.Arg439Gln
  • NP_001394592.1:p.Arg440Gln
  • NP_001394593.1:p.Arg425Gln
  • NP_001394594.1:p.Arg425Gln
  • NP_001394595.1:p.Arg425Gln
  • NP_001394596.1:p.Arg425Gln
  • NP_001394597.1:p.Arg425Gln
  • NP_001394598.1:p.Arg425Gln
  • NP_001394599.1:p.Arg424Gln
  • NP_001394600.1:p.Arg424Gln
  • NP_001394601.1:p.Arg424Gln
  • NP_001394602.1:p.Arg424Gln
  • NP_001394603.1:p.Arg425Gln
  • NP_001394604.1:p.Arg425Gln
  • NP_001394605.1:p.Arg425Gln
  • NP_001394606.1:p.Arg425Gln
  • NP_001394607.1:p.Arg425Gln
  • NP_001394608.1:p.Arg425Gln
  • NP_001394609.1:p.Arg425Gln
  • NP_001394610.1:p.Arg425Gln
  • NP_001394611.1:p.Arg425Gln
  • NP_001394612.1:p.Arg425Gln
  • NP_001394613.1:p.Arg466Gln
  • NP_001394614.1:p.Arg424Gln
  • NP_001394615.1:p.Arg424Gln
  • NP_001394616.1:p.Arg424Gln
  • NP_001394617.1:p.Arg424Gln
  • NP_001394618.1:p.Arg424Gln
  • NP_001394619.1:p.Arg424Gln
  • NP_001394620.1:p.Arg424Gln
  • NP_001394621.1:p.Arg419Gln
  • NP_001394623.1:p.Arg419Gln
  • NP_001394624.1:p.Arg419Gln
  • NP_001394625.1:p.Arg419Gln
  • NP_001394626.1:p.Arg419Gln
  • NP_001394627.1:p.Arg419Gln
  • NP_001394653.1:p.Arg419Gln
  • NP_001394654.1:p.Arg419Gln
  • NP_001394655.1:p.Arg419Gln
  • NP_001394656.1:p.Arg419Gln
  • NP_001394657.1:p.Arg419Gln
  • NP_001394658.1:p.Arg419Gln
  • NP_001394659.1:p.Arg419Gln
  • NP_001394660.1:p.Arg419Gln
  • NP_001394661.1:p.Arg419Gln
  • NP_001394662.1:p.Arg419Gln
  • NP_001394663.1:p.Arg419Gln
  • NP_001394664.1:p.Arg419Gln
  • NP_001394665.1:p.Arg419Gln
  • NP_001394666.1:p.Arg419Gln
  • NP_001394667.1:p.Arg419Gln
  • NP_001394668.1:p.Arg419Gln
  • NP_001394669.1:p.Arg418Gln
  • NP_001394670.1:p.Arg418Gln
  • NP_001394671.1:p.Arg418Gln
  • NP_001394672.1:p.Arg418Gln
  • NP_001394673.1:p.Arg418Gln
  • NP_001394674.1:p.Arg418Gln
  • NP_001394675.1:p.Arg418Gln
  • NP_001394676.1:p.Arg418Gln
  • NP_001394677.1:p.Arg418Gln
  • NP_001394678.1:p.Arg418Gln
  • NP_001394679.1:p.Arg419Gln
  • NP_001394680.1:p.Arg419Gln
  • NP_001394681.1:p.Arg419Gln
  • NP_001394767.1:p.Arg418Gln
  • NP_001394768.1:p.Arg418Gln
  • NP_001394770.1:p.Arg418Gln
  • NP_001394771.1:p.Arg418Gln
  • NP_001394772.1:p.Arg418Gln
  • NP_001394773.1:p.Arg418Gln
  • NP_001394774.1:p.Arg418Gln
  • NP_001394775.1:p.Arg418Gln
  • NP_001394776.1:p.Arg418Gln
  • NP_001394777.1:p.Arg418Gln
  • NP_001394778.1:p.Arg418Gln
  • NP_001394779.1:p.Arg419Gln
  • NP_001394780.1:p.Arg419Gln
  • NP_001394781.1:p.Arg419Gln
  • NP_001394782.1:p.Arg395Gln
  • NP_001394783.1:p.Arg466Gln
  • NP_001394787.1:p.Arg466Gln
  • NP_001394788.1:p.Arg466Gln
  • NP_001394789.1:p.Arg465Gln
  • NP_001394790.1:p.Arg465Gln
  • NP_001394791.1:p.Arg399Gln
  • NP_001394792.1:p.Arg425Gln
  • NP_001394803.1:p.Arg398Gln
  • NP_001394804.1:p.Arg398Gln
  • NP_001394808.1:p.Arg396Gln
  • NP_001394810.1:p.Arg396Gln
  • NP_001394811.1:p.Arg396Gln
  • NP_001394813.1:p.Arg396Gln
  • NP_001394814.1:p.Arg396Gln
  • NP_001394815.1:p.Arg396Gln
  • NP_001394816.1:p.Arg396Gln
  • NP_001394818.1:p.Arg396Gln
  • NP_001394823.1:p.Arg395Gln
  • NP_001394824.1:p.Arg395Gln
  • NP_001394825.1:p.Arg395Gln
  • NP_001394826.1:p.Arg395Gln
  • NP_001394827.1:p.Arg395Gln
  • NP_001394828.1:p.Arg395Gln
  • NP_001394829.1:p.Arg396Gln
  • NP_001394831.1:p.Arg396Gln
  • NP_001394833.1:p.Arg396Gln
  • NP_001394835.1:p.Arg396Gln
  • NP_001394836.1:p.Arg396Gln
  • NP_001394837.1:p.Arg396Gln
  • NP_001394838.1:p.Arg396Gln
  • NP_001394839.1:p.Arg396Gln
  • NP_001394844.1:p.Arg395Gln
  • NP_001394845.1:p.Arg395Gln
  • NP_001394846.1:p.Arg395Gln
  • NP_001394847.1:p.Arg395Gln
  • NP_001394848.1:p.Arg425Gln
  • NP_001394849.1:p.Arg378Gln
  • NP_001394850.1:p.Arg378Gln
  • NP_001394851.1:p.Arg378Gln
  • NP_001394852.1:p.Arg378Gln
  • NP_001394853.1:p.Arg378Gln
  • NP_001394854.1:p.Arg378Gln
  • NP_001394855.1:p.Arg378Gln
  • NP_001394856.1:p.Arg378Gln
  • NP_001394857.1:p.Arg378Gln
  • NP_001394858.1:p.Arg378Gln
  • NP_001394859.1:p.Arg377Gln
  • NP_001394860.1:p.Arg377Gln
  • NP_001394861.1:p.Arg377Gln
  • NP_001394862.1:p.Arg378Gln
  • NP_001394863.1:p.Arg377Gln
  • NP_001394864.1:p.Arg378Gln
  • NP_001394865.1:p.Arg377Gln
  • NP_001394866.1:p.Arg425Gln
  • NP_001394867.1:p.Arg425Gln
  • NP_001394868.1:p.Arg425Gln
  • NP_001394869.1:p.Arg424Gln
  • NP_001394870.1:p.Arg424Gln
  • NP_001394871.1:p.Arg419Gln
  • NP_001394872.1:p.Arg418Gln
  • NP_001394873.1:p.Arg419Gln
  • NP_001394874.1:p.Arg419Gln
  • NP_001394875.1:p.Arg355Gln
  • NP_001394876.1:p.Arg355Gln
  • NP_001394877.1:p.Arg355Gln
  • NP_001394878.1:p.Arg355Gln
  • NP_001394879.1:p.Arg355Gln
  • NP_001394880.1:p.Arg355Gln
  • NP_001394881.1:p.Arg355Gln
  • NP_001394882.1:p.Arg355Gln
  • NP_001394883.1:p.Arg354Gln
  • NP_001394884.1:p.Arg354Gln
  • NP_001394885.1:p.Arg354Gln
  • NP_001394886.1:p.Arg355Gln
  • NP_001394887.1:p.Arg354Gln
  • NP_001394888.1:p.Arg339Gln
  • NP_001394889.1:p.Arg339Gln
  • NP_001394891.1:p.Arg338Gln
  • NP_001394892.1:p.Arg339Gln
  • NP_001394893.1:p.Arg418Gln
  • NP_001394894.1:p.Arg298Gln
  • NP_001394895.1:p.Arg170Gln
  • NP_001394896.1:p.Arg170Gln
  • NP_009225.1:p.Arg466Gln
  • NP_009225.1:p.Arg466Gln
  • NP_009228.2:p.Arg419Gln
  • NP_009231.2:p.Arg466Gln
  • LRG_292t1:c.1397G>A
  • LRG_292:g.123850G>A
  • LRG_292p1:p.Arg466Gln
  • NC_000017.10:g.41246151C>T
  • NM_007294.3:c.1397G>A
  • NM_007300.3:c.1397G>A
  • NR_027676.1:n.1533G>A
  • p.R466Q
Nucleotide change:
1516G>A
Protein change:
R170Q
Links:
dbSNP: rs199540030
NCBI 1000 Genomes Browser:
rs199540030
Molecular consequence:
  • NM_001407968.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+607G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1712G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3102G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+610G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1388G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1316G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1319G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1394G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1196G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1187G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1184G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1271G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1064G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1397G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000588033Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR)
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 20, 2017) 		germlineclinical testing

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

SCV000698859Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Sep 18, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

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

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Harrison SM, Dolinsky JS, Knight Johnson AE, Pesaran T, Azzariti DR, Bale S, Chao EC, Das S, Vincent L, Rehm HL.

Genet Med. 2017 Oct;19(10):1096-1104. doi: 10.1038/gim.2017.14. Epub 2017 Mar 16.

PubMed [citation]
PMID:
28301460
PMCID:
PMC5600649
See all PubMed Citations (6)

Details of each submission

From Department of Pathology and Molecular Medicine, Queen's University - The Canadian Open Genetics Repository (COGR), SCV000588033.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698859.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Variant summary: BRCA1 c.1397G>A (p.Arg466Gln) results in a conservative amino acid change located in the BRCA1, serine-rich domain (IPR025994) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251102 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1397G>A has been reported in the literature as a VUS in settings of a family with breast cancer and in individuals undergoing germline BRCA1/2 cancer testing (example, Zuntini_2018. Kim_2022). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At least one publication reports experimental evidence evaluating an impact on protein function (Bouwman_2020). These results showed no damaging effect of this variant on ability to complement BRCA1-deficient mouse embryonic stem cells in homologous recombination DNA repair (HRR) using cisplatin and olaparib sensitivity assays and a direct GFP HRR assay. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (benign/likely benign, n=4; VUS, n=5). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Oct 8, 2024