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NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 7, 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:
RCV000428573.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)]

NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)

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.1233T>G (p.Asp411Glu)
Other names:
NM_007294.4(BRCA1):c.1233T>G
HGVS:
  • NC_000017.11:g.43094298A>C
  • NG_005905.2:g.123686T>G
  • NM_001407571.1:c.1020T>G
  • NM_001407581.1:c.1233T>G
  • NM_001407582.1:c.1233T>G
  • NM_001407583.1:c.1233T>G
  • NM_001407585.1:c.1233T>G
  • NM_001407587.1:c.1230T>G
  • NM_001407590.1:c.1230T>G
  • NM_001407591.1:c.1230T>G
  • NM_001407593.1:c.1233T>G
  • NM_001407594.1:c.1233T>G
  • NM_001407596.1:c.1233T>G
  • NM_001407597.1:c.1233T>G
  • NM_001407598.1:c.1233T>G
  • NM_001407602.1:c.1233T>G
  • NM_001407603.1:c.1233T>G
  • NM_001407605.1:c.1233T>G
  • NM_001407610.1:c.1230T>G
  • NM_001407611.1:c.1230T>G
  • NM_001407612.1:c.1230T>G
  • NM_001407613.1:c.1230T>G
  • NM_001407614.1:c.1230T>G
  • NM_001407615.1:c.1230T>G
  • NM_001407616.1:c.1233T>G
  • NM_001407617.1:c.1233T>G
  • NM_001407618.1:c.1233T>G
  • NM_001407619.1:c.1233T>G
  • NM_001407620.1:c.1233T>G
  • NM_001407621.1:c.1233T>G
  • NM_001407622.1:c.1233T>G
  • NM_001407623.1:c.1233T>G
  • NM_001407624.1:c.1233T>G
  • NM_001407625.1:c.1233T>G
  • NM_001407626.1:c.1233T>G
  • NM_001407627.1:c.1230T>G
  • NM_001407628.1:c.1230T>G
  • NM_001407629.1:c.1230T>G
  • NM_001407630.1:c.1230T>G
  • NM_001407631.1:c.1230T>G
  • NM_001407632.1:c.1230T>G
  • NM_001407633.1:c.1230T>G
  • NM_001407634.1:c.1230T>G
  • NM_001407635.1:c.1230T>G
  • NM_001407636.1:c.1230T>G
  • NM_001407637.1:c.1230T>G
  • NM_001407638.1:c.1230T>G
  • NM_001407639.1:c.1233T>G
  • NM_001407640.1:c.1233T>G
  • NM_001407641.1:c.1233T>G
  • NM_001407642.1:c.1233T>G
  • NM_001407644.1:c.1230T>G
  • NM_001407645.1:c.1230T>G
  • NM_001407646.1:c.1224T>G
  • NM_001407647.1:c.1224T>G
  • NM_001407648.1:c.1110T>G
  • NM_001407649.1:c.1107T>G
  • NM_001407652.1:c.1233T>G
  • NM_001407653.1:c.1155T>G
  • NM_001407654.1:c.1155T>G
  • NM_001407655.1:c.1155T>G
  • NM_001407656.1:c.1155T>G
  • NM_001407657.1:c.1155T>G
  • NM_001407658.1:c.1155T>G
  • NM_001407659.1:c.1152T>G
  • NM_001407660.1:c.1152T>G
  • NM_001407661.1:c.1152T>G
  • NM_001407662.1:c.1152T>G
  • NM_001407663.1:c.1155T>G
  • NM_001407664.1:c.1110T>G
  • NM_001407665.1:c.1110T>G
  • NM_001407666.1:c.1110T>G
  • NM_001407667.1:c.1110T>G
  • NM_001407668.1:c.1110T>G
  • NM_001407669.1:c.1110T>G
  • NM_001407670.1:c.1107T>G
  • NM_001407671.1:c.1107T>G
  • NM_001407672.1:c.1107T>G
  • NM_001407673.1:c.1107T>G
  • NM_001407674.1:c.1110T>G
  • NM_001407675.1:c.1110T>G
  • NM_001407676.1:c.1110T>G
  • NM_001407677.1:c.1110T>G
  • NM_001407678.1:c.1110T>G
  • NM_001407679.1:c.1110T>G
  • NM_001407680.1:c.1110T>G
  • NM_001407681.1:c.1110T>G
  • NM_001407682.1:c.1110T>G
  • NM_001407683.1:c.1110T>G
  • NM_001407684.1:c.1233T>G
  • NM_001407685.1:c.1107T>G
  • NM_001407686.1:c.1107T>G
  • NM_001407687.1:c.1107T>G
  • NM_001407688.1:c.1107T>G
  • NM_001407689.1:c.1107T>G
  • NM_001407690.1:c.1107T>G
  • NM_001407691.1:c.1107T>G
  • NM_001407692.1:c.1092T>G
  • NM_001407694.1:c.1092T>G
  • NM_001407695.1:c.1092T>G
  • NM_001407696.1:c.1092T>G
  • NM_001407697.1:c.1092T>G
  • NM_001407698.1:c.1092T>G
  • NM_001407724.1:c.1092T>G
  • NM_001407725.1:c.1092T>G
  • NM_001407726.1:c.1092T>G
  • NM_001407727.1:c.1092T>G
  • NM_001407728.1:c.1092T>G
  • NM_001407729.1:c.1092T>G
  • NM_001407730.1:c.1092T>G
  • NM_001407731.1:c.1092T>G
  • NM_001407732.1:c.1092T>G
  • NM_001407733.1:c.1092T>G
  • NM_001407734.1:c.1092T>G
  • NM_001407735.1:c.1092T>G
  • NM_001407736.1:c.1092T>G
  • NM_001407737.1:c.1092T>G
  • NM_001407738.1:c.1092T>G
  • NM_001407739.1:c.1092T>G
  • NM_001407740.1:c.1089T>G
  • NM_001407741.1:c.1089T>G
  • NM_001407742.1:c.1089T>G
  • NM_001407743.1:c.1089T>G
  • NM_001407744.1:c.1089T>G
  • NM_001407745.1:c.1089T>G
  • NM_001407746.1:c.1089T>G
  • NM_001407747.1:c.1089T>G
  • NM_001407748.1:c.1089T>G
  • NM_001407749.1:c.1089T>G
  • NM_001407750.1:c.1092T>G
  • NM_001407751.1:c.1092T>G
  • NM_001407752.1:c.1092T>G
  • NM_001407838.1:c.1089T>G
  • NM_001407839.1:c.1089T>G
  • NM_001407841.1:c.1089T>G
  • NM_001407842.1:c.1089T>G
  • NM_001407843.1:c.1089T>G
  • NM_001407844.1:c.1089T>G
  • NM_001407845.1:c.1089T>G
  • NM_001407846.1:c.1089T>G
  • NM_001407847.1:c.1089T>G
  • NM_001407848.1:c.1089T>G
  • NM_001407849.1:c.1089T>G
  • NM_001407850.1:c.1092T>G
  • NM_001407851.1:c.1092T>G
  • NM_001407852.1:c.1092T>G
  • NM_001407853.1:c.1020T>G
  • NM_001407854.1:c.1233T>G
  • NM_001407858.1:c.1233T>G
  • NM_001407859.1:c.1233T>G
  • NM_001407860.1:c.1230T>G
  • NM_001407861.1:c.1230T>G
  • NM_001407862.1:c.1032T>G
  • NM_001407863.1:c.1110T>G
  • NM_001407874.1:c.1029T>G
  • NM_001407875.1:c.1029T>G
  • NM_001407879.1:c.1023T>G
  • NM_001407881.1:c.1023T>G
  • NM_001407882.1:c.1023T>G
  • NM_001407884.1:c.1023T>G
  • NM_001407885.1:c.1023T>G
  • NM_001407886.1:c.1023T>G
  • NM_001407887.1:c.1023T>G
  • NM_001407889.1:c.1023T>G
  • NM_001407894.1:c.1020T>G
  • NM_001407895.1:c.1020T>G
  • NM_001407896.1:c.1020T>G
  • NM_001407897.1:c.1020T>G
  • NM_001407898.1:c.1020T>G
  • NM_001407899.1:c.1020T>G
  • NM_001407900.1:c.1023T>G
  • NM_001407902.1:c.1023T>G
  • NM_001407904.1:c.1023T>G
  • NM_001407906.1:c.1023T>G
  • NM_001407907.1:c.1023T>G
  • NM_001407908.1:c.1023T>G
  • NM_001407909.1:c.1023T>G
  • NM_001407910.1:c.1023T>G
  • NM_001407915.1:c.1020T>G
  • NM_001407916.1:c.1020T>G
  • NM_001407917.1:c.1020T>G
  • NM_001407918.1:c.1020T>G
  • NM_001407919.1:c.1110T>G
  • NM_001407920.1:c.969T>G
  • NM_001407921.1:c.969T>G
  • NM_001407922.1:c.969T>G
  • NM_001407923.1:c.969T>G
  • NM_001407924.1:c.969T>G
  • NM_001407925.1:c.969T>G
  • NM_001407926.1:c.969T>G
  • NM_001407927.1:c.969T>G
  • NM_001407928.1:c.969T>G
  • NM_001407929.1:c.969T>G
  • NM_001407930.1:c.966T>G
  • NM_001407931.1:c.966T>G
  • NM_001407932.1:c.966T>G
  • NM_001407933.1:c.969T>G
  • NM_001407934.1:c.966T>G
  • NM_001407935.1:c.969T>G
  • NM_001407936.1:c.966T>G
  • NM_001407937.1:c.1110T>G
  • NM_001407938.1:c.1110T>G
  • NM_001407939.1:c.1110T>G
  • NM_001407940.1:c.1107T>G
  • NM_001407941.1:c.1107T>G
  • NM_001407942.1:c.1092T>G
  • NM_001407943.1:c.1089T>G
  • NM_001407944.1:c.1092T>G
  • NM_001407945.1:c.1092T>G
  • NM_001407946.1:c.900T>G
  • NM_001407947.1:c.900T>G
  • NM_001407948.1:c.900T>G
  • NM_001407949.1:c.900T>G
  • NM_001407950.1:c.900T>G
  • NM_001407951.1:c.900T>G
  • NM_001407952.1:c.900T>G
  • NM_001407953.1:c.900T>G
  • NM_001407954.1:c.897T>G
  • NM_001407955.1:c.897T>G
  • NM_001407956.1:c.897T>G
  • NM_001407957.1:c.900T>G
  • NM_001407958.1:c.897T>G
  • NM_001407959.1:c.852T>G
  • NM_001407960.1:c.852T>G
  • NM_001407962.1:c.849T>G
  • NM_001407963.1:c.852T>G
  • NM_001407964.1:c.1089T>G
  • NM_001407965.1:c.729T>G
  • NM_001407966.1:c.345T>G
  • NM_001407967.1:c.345T>G
  • NM_001407968.1:c.787+446T>G
  • NM_001407969.1:c.787+446T>G
  • NM_001407970.1:c.787+446T>G
  • NM_001407971.1:c.787+446T>G
  • NM_001407972.1:c.784+446T>G
  • NM_001407973.1:c.787+446T>G
  • NM_001407974.1:c.787+446T>G
  • NM_001407975.1:c.787+446T>G
  • NM_001407976.1:c.787+446T>G
  • NM_001407977.1:c.787+446T>G
  • NM_001407978.1:c.787+446T>G
  • NM_001407979.1:c.787+446T>G
  • NM_001407980.1:c.787+446T>G
  • NM_001407981.1:c.787+446T>G
  • NM_001407982.1:c.787+446T>G
  • NM_001407983.1:c.787+446T>G
  • NM_001407984.1:c.784+446T>G
  • NM_001407985.1:c.784+446T>G
  • NM_001407986.1:c.784+446T>G
  • NM_001407990.1:c.787+446T>G
  • NM_001407991.1:c.784+446T>G
  • NM_001407992.1:c.784+446T>G
  • NM_001407993.1:c.787+446T>G
  • NM_001408392.1:c.784+446T>G
  • NM_001408396.1:c.784+446T>G
  • NM_001408397.1:c.784+446T>G
  • NM_001408398.1:c.784+446T>G
  • NM_001408399.1:c.784+446T>G
  • NM_001408400.1:c.784+446T>G
  • NM_001408401.1:c.784+446T>G
  • NM_001408402.1:c.784+446T>G
  • NM_001408403.1:c.787+446T>G
  • NM_001408404.1:c.787+446T>G
  • NM_001408406.1:c.790+443T>G
  • NM_001408407.1:c.784+446T>G
  • NM_001408408.1:c.778+446T>G
  • NM_001408409.1:c.709+446T>G
  • NM_001408410.1:c.646+446T>G
  • NM_001408411.1:c.709+446T>G
  • NM_001408412.1:c.709+446T>G
  • NM_001408413.1:c.706+446T>G
  • NM_001408414.1:c.709+446T>G
  • NM_001408415.1:c.709+446T>G
  • NM_001408416.1:c.706+446T>G
  • NM_001408418.1:c.670+1548T>G
  • NM_001408419.1:c.670+1548T>G
  • NM_001408420.1:c.670+1548T>G
  • NM_001408421.1:c.667+1548T>G
  • NM_001408422.1:c.670+1548T>G
  • NM_001408423.1:c.670+1548T>G
  • NM_001408424.1:c.667+1548T>G
  • NM_001408425.1:c.664+446T>G
  • NM_001408426.1:c.664+446T>G
  • NM_001408427.1:c.664+446T>G
  • NM_001408428.1:c.664+446T>G
  • NM_001408429.1:c.664+446T>G
  • NM_001408430.1:c.664+446T>G
  • NM_001408431.1:c.667+1548T>G
  • NM_001408432.1:c.661+446T>G
  • NM_001408433.1:c.661+446T>G
  • NM_001408434.1:c.661+446T>G
  • NM_001408435.1:c.661+446T>G
  • NM_001408436.1:c.664+446T>G
  • NM_001408437.1:c.664+446T>G
  • NM_001408438.1:c.664+446T>G
  • NM_001408439.1:c.664+446T>G
  • NM_001408440.1:c.664+446T>G
  • NM_001408441.1:c.664+446T>G
  • NM_001408442.1:c.664+446T>G
  • NM_001408443.1:c.664+446T>G
  • NM_001408444.1:c.664+446T>G
  • NM_001408445.1:c.661+446T>G
  • NM_001408446.1:c.661+446T>G
  • NM_001408447.1:c.661+446T>G
  • NM_001408448.1:c.661+446T>G
  • NM_001408450.1:c.661+446T>G
  • NM_001408451.1:c.652+446T>G
  • NM_001408452.1:c.646+446T>G
  • NM_001408453.1:c.646+446T>G
  • NM_001408454.1:c.646+446T>G
  • NM_001408455.1:c.646+446T>G
  • NM_001408456.1:c.646+446T>G
  • NM_001408457.1:c.646+446T>G
  • NM_001408458.1:c.646+446T>G
  • NM_001408459.1:c.646+446T>G
  • NM_001408460.1:c.646+446T>G
  • NM_001408461.1:c.646+446T>G
  • NM_001408462.1:c.643+446T>G
  • NM_001408463.1:c.643+446T>G
  • NM_001408464.1:c.643+446T>G
  • NM_001408465.1:c.643+446T>G
  • NM_001408466.1:c.646+446T>G
  • NM_001408467.1:c.646+446T>G
  • NM_001408468.1:c.643+446T>G
  • NM_001408469.1:c.646+446T>G
  • NM_001408470.1:c.643+446T>G
  • NM_001408472.1:c.787+446T>G
  • NM_001408473.1:c.784+446T>G
  • NM_001408474.1:c.586+446T>G
  • NM_001408475.1:c.583+446T>G
  • NM_001408476.1:c.586+446T>G
  • NM_001408478.1:c.577+446T>G
  • NM_001408479.1:c.577+446T>G
  • NM_001408480.1:c.577+446T>G
  • NM_001408481.1:c.577+446T>G
  • NM_001408482.1:c.577+446T>G
  • NM_001408483.1:c.577+446T>G
  • NM_001408484.1:c.577+446T>G
  • NM_001408485.1:c.577+446T>G
  • NM_001408489.1:c.577+446T>G
  • NM_001408490.1:c.574+446T>G
  • NM_001408491.1:c.574+446T>G
  • NM_001408492.1:c.577+446T>G
  • NM_001408493.1:c.574+446T>G
  • NM_001408494.1:c.548-3266T>G
  • NM_001408495.1:c.545-3266T>G
  • NM_001408496.1:c.523+446T>G
  • NM_001408497.1:c.523+446T>G
  • NM_001408498.1:c.523+446T>G
  • NM_001408499.1:c.523+446T>G
  • NM_001408500.1:c.523+446T>G
  • NM_001408501.1:c.523+446T>G
  • NM_001408502.1:c.454+446T>G
  • NM_001408503.1:c.520+446T>G
  • NM_001408504.1:c.520+446T>G
  • NM_001408505.1:c.520+446T>G
  • NM_001408506.1:c.460+1548T>G
  • NM_001408507.1:c.460+1548T>G
  • NM_001408508.1:c.451+446T>G
  • NM_001408509.1:c.451+446T>G
  • NM_001408510.1:c.406+446T>G
  • NM_001408511.1:c.404-3266T>G
  • NM_001408512.1:c.283+446T>G
  • NM_001408513.1:c.577+446T>G
  • NM_001408514.1:c.577+446T>G
  • NM_007294.4:c.1233T>GMANE SELECT
  • NM_007297.4:c.1092T>G
  • NM_007298.4:c.787+446T>G
  • NM_007299.4:c.787+446T>G
  • NM_007300.4:c.1233T>G
  • NP_001394500.1:p.Asp340Glu
  • NP_001394510.1:p.Asp411Glu
  • NP_001394511.1:p.Asp411Glu
  • NP_001394512.1:p.Asp411Glu
  • NP_001394514.1:p.Asp411Glu
  • NP_001394516.1:p.Asp410Glu
  • NP_001394519.1:p.Asp410Glu
  • NP_001394520.1:p.Asp410Glu
  • NP_001394522.1:p.Asp411Glu
  • NP_001394523.1:p.Asp411Glu
  • NP_001394525.1:p.Asp411Glu
  • NP_001394526.1:p.Asp411Glu
  • NP_001394527.1:p.Asp411Glu
  • NP_001394531.1:p.Asp411Glu
  • NP_001394532.1:p.Asp411Glu
  • NP_001394534.1:p.Asp411Glu
  • NP_001394539.1:p.Asp410Glu
  • NP_001394540.1:p.Asp410Glu
  • NP_001394541.1:p.Asp410Glu
  • NP_001394542.1:p.Asp410Glu
  • NP_001394543.1:p.Asp410Glu
  • NP_001394544.1:p.Asp410Glu
  • NP_001394545.1:p.Asp411Glu
  • NP_001394546.1:p.Asp411Glu
  • NP_001394547.1:p.Asp411Glu
  • NP_001394548.1:p.Asp411Glu
  • NP_001394549.1:p.Asp411Glu
  • NP_001394550.1:p.Asp411Glu
  • NP_001394551.1:p.Asp411Glu
  • NP_001394552.1:p.Asp411Glu
  • NP_001394553.1:p.Asp411Glu
  • NP_001394554.1:p.Asp411Glu
  • NP_001394555.1:p.Asp411Glu
  • NP_001394556.1:p.Asp410Glu
  • NP_001394557.1:p.Asp410Glu
  • NP_001394558.1:p.Asp410Glu
  • NP_001394559.1:p.Asp410Glu
  • NP_001394560.1:p.Asp410Glu
  • NP_001394561.1:p.Asp410Glu
  • NP_001394562.1:p.Asp410Glu
  • NP_001394563.1:p.Asp410Glu
  • NP_001394564.1:p.Asp410Glu
  • NP_001394565.1:p.Asp410Glu
  • NP_001394566.1:p.Asp410Glu
  • NP_001394567.1:p.Asp410Glu
  • NP_001394568.1:p.Asp411Glu
  • NP_001394569.1:p.Asp411Glu
  • NP_001394570.1:p.Asp411Glu
  • NP_001394571.1:p.Asp411Glu
  • NP_001394573.1:p.Asp410Glu
  • NP_001394574.1:p.Asp410Glu
  • NP_001394575.1:p.Asp408Glu
  • NP_001394576.1:p.Asp408Glu
  • NP_001394577.1:p.Asp370Glu
  • NP_001394578.1:p.Asp369Glu
  • NP_001394581.1:p.Asp411Glu
  • NP_001394582.1:p.Asp385Glu
  • NP_001394583.1:p.Asp385Glu
  • NP_001394584.1:p.Asp385Glu
  • NP_001394585.1:p.Asp385Glu
  • NP_001394586.1:p.Asp385Glu
  • NP_001394587.1:p.Asp385Glu
  • NP_001394588.1:p.Asp384Glu
  • NP_001394589.1:p.Asp384Glu
  • NP_001394590.1:p.Asp384Glu
  • NP_001394591.1:p.Asp384Glu
  • NP_001394592.1:p.Asp385Glu
  • NP_001394593.1:p.Asp370Glu
  • NP_001394594.1:p.Asp370Glu
  • NP_001394595.1:p.Asp370Glu
  • NP_001394596.1:p.Asp370Glu
  • NP_001394597.1:p.Asp370Glu
  • NP_001394598.1:p.Asp370Glu
  • NP_001394599.1:p.Asp369Glu
  • NP_001394600.1:p.Asp369Glu
  • NP_001394601.1:p.Asp369Glu
  • NP_001394602.1:p.Asp369Glu
  • NP_001394603.1:p.Asp370Glu
  • NP_001394604.1:p.Asp370Glu
  • NP_001394605.1:p.Asp370Glu
  • NP_001394606.1:p.Asp370Glu
  • NP_001394607.1:p.Asp370Glu
  • NP_001394608.1:p.Asp370Glu
  • NP_001394609.1:p.Asp370Glu
  • NP_001394610.1:p.Asp370Glu
  • NP_001394611.1:p.Asp370Glu
  • NP_001394612.1:p.Asp370Glu
  • NP_001394613.1:p.Asp411Glu
  • NP_001394614.1:p.Asp369Glu
  • NP_001394615.1:p.Asp369Glu
  • NP_001394616.1:p.Asp369Glu
  • NP_001394617.1:p.Asp369Glu
  • NP_001394618.1:p.Asp369Glu
  • NP_001394619.1:p.Asp369Glu
  • NP_001394620.1:p.Asp369Glu
  • NP_001394621.1:p.Asp364Glu
  • NP_001394623.1:p.Asp364Glu
  • NP_001394624.1:p.Asp364Glu
  • NP_001394625.1:p.Asp364Glu
  • NP_001394626.1:p.Asp364Glu
  • NP_001394627.1:p.Asp364Glu
  • NP_001394653.1:p.Asp364Glu
  • NP_001394654.1:p.Asp364Glu
  • NP_001394655.1:p.Asp364Glu
  • NP_001394656.1:p.Asp364Glu
  • NP_001394657.1:p.Asp364Glu
  • NP_001394658.1:p.Asp364Glu
  • NP_001394659.1:p.Asp364Glu
  • NP_001394660.1:p.Asp364Glu
  • NP_001394661.1:p.Asp364Glu
  • NP_001394662.1:p.Asp364Glu
  • NP_001394663.1:p.Asp364Glu
  • NP_001394664.1:p.Asp364Glu
  • NP_001394665.1:p.Asp364Glu
  • NP_001394666.1:p.Asp364Glu
  • NP_001394667.1:p.Asp364Glu
  • NP_001394668.1:p.Asp364Glu
  • NP_001394669.1:p.Asp363Glu
  • NP_001394670.1:p.Asp363Glu
  • NP_001394671.1:p.Asp363Glu
  • NP_001394672.1:p.Asp363Glu
  • NP_001394673.1:p.Asp363Glu
  • NP_001394674.1:p.Asp363Glu
  • NP_001394675.1:p.Asp363Glu
  • NP_001394676.1:p.Asp363Glu
  • NP_001394677.1:p.Asp363Glu
  • NP_001394678.1:p.Asp363Glu
  • NP_001394679.1:p.Asp364Glu
  • NP_001394680.1:p.Asp364Glu
  • NP_001394681.1:p.Asp364Glu
  • NP_001394767.1:p.Asp363Glu
  • NP_001394768.1:p.Asp363Glu
  • NP_001394770.1:p.Asp363Glu
  • NP_001394771.1:p.Asp363Glu
  • NP_001394772.1:p.Asp363Glu
  • NP_001394773.1:p.Asp363Glu
  • NP_001394774.1:p.Asp363Glu
  • NP_001394775.1:p.Asp363Glu
  • NP_001394776.1:p.Asp363Glu
  • NP_001394777.1:p.Asp363Glu
  • NP_001394778.1:p.Asp363Glu
  • NP_001394779.1:p.Asp364Glu
  • NP_001394780.1:p.Asp364Glu
  • NP_001394781.1:p.Asp364Glu
  • NP_001394782.1:p.Asp340Glu
  • NP_001394783.1:p.Asp411Glu
  • NP_001394787.1:p.Asp411Glu
  • NP_001394788.1:p.Asp411Glu
  • NP_001394789.1:p.Asp410Glu
  • NP_001394790.1:p.Asp410Glu
  • NP_001394791.1:p.Asp344Glu
  • NP_001394792.1:p.Asp370Glu
  • NP_001394803.1:p.Asp343Glu
  • NP_001394804.1:p.Asp343Glu
  • NP_001394808.1:p.Asp341Glu
  • NP_001394810.1:p.Asp341Glu
  • NP_001394811.1:p.Asp341Glu
  • NP_001394813.1:p.Asp341Glu
  • NP_001394814.1:p.Asp341Glu
  • NP_001394815.1:p.Asp341Glu
  • NP_001394816.1:p.Asp341Glu
  • NP_001394818.1:p.Asp341Glu
  • NP_001394823.1:p.Asp340Glu
  • NP_001394824.1:p.Asp340Glu
  • NP_001394825.1:p.Asp340Glu
  • NP_001394826.1:p.Asp340Glu
  • NP_001394827.1:p.Asp340Glu
  • NP_001394828.1:p.Asp340Glu
  • NP_001394829.1:p.Asp341Glu
  • NP_001394831.1:p.Asp341Glu
  • NP_001394833.1:p.Asp341Glu
  • NP_001394835.1:p.Asp341Glu
  • NP_001394836.1:p.Asp341Glu
  • NP_001394837.1:p.Asp341Glu
  • NP_001394838.1:p.Asp341Glu
  • NP_001394839.1:p.Asp341Glu
  • NP_001394844.1:p.Asp340Glu
  • NP_001394845.1:p.Asp340Glu
  • NP_001394846.1:p.Asp340Glu
  • NP_001394847.1:p.Asp340Glu
  • NP_001394848.1:p.Asp370Glu
  • NP_001394849.1:p.Asp323Glu
  • NP_001394850.1:p.Asp323Glu
  • NP_001394851.1:p.Asp323Glu
  • NP_001394852.1:p.Asp323Glu
  • NP_001394853.1:p.Asp323Glu
  • NP_001394854.1:p.Asp323Glu
  • NP_001394855.1:p.Asp323Glu
  • NP_001394856.1:p.Asp323Glu
  • NP_001394857.1:p.Asp323Glu
  • NP_001394858.1:p.Asp323Glu
  • NP_001394859.1:p.Asp322Glu
  • NP_001394860.1:p.Asp322Glu
  • NP_001394861.1:p.Asp322Glu
  • NP_001394862.1:p.Asp323Glu
  • NP_001394863.1:p.Asp322Glu
  • NP_001394864.1:p.Asp323Glu
  • NP_001394865.1:p.Asp322Glu
  • NP_001394866.1:p.Asp370Glu
  • NP_001394867.1:p.Asp370Glu
  • NP_001394868.1:p.Asp370Glu
  • NP_001394869.1:p.Asp369Glu
  • NP_001394870.1:p.Asp369Glu
  • NP_001394871.1:p.Asp364Glu
  • NP_001394872.1:p.Asp363Glu
  • NP_001394873.1:p.Asp364Glu
  • NP_001394874.1:p.Asp364Glu
  • NP_001394875.1:p.Asp300Glu
  • NP_001394876.1:p.Asp300Glu
  • NP_001394877.1:p.Asp300Glu
  • NP_001394878.1:p.Asp300Glu
  • NP_001394879.1:p.Asp300Glu
  • NP_001394880.1:p.Asp300Glu
  • NP_001394881.1:p.Asp300Glu
  • NP_001394882.1:p.Asp300Glu
  • NP_001394883.1:p.Asp299Glu
  • NP_001394884.1:p.Asp299Glu
  • NP_001394885.1:p.Asp299Glu
  • NP_001394886.1:p.Asp300Glu
  • NP_001394887.1:p.Asp299Glu
  • NP_001394888.1:p.Asp284Glu
  • NP_001394889.1:p.Asp284Glu
  • NP_001394891.1:p.Asp283Glu
  • NP_001394892.1:p.Asp284Glu
  • NP_001394893.1:p.Asp363Glu
  • NP_001394894.1:p.Asp243Glu
  • NP_001394895.1:p.Asp115Glu
  • NP_001394896.1:p.Asp115Glu
  • NP_009225.1:p.Asp411Glu
  • NP_009225.1:p.Asp411Glu
  • NP_009228.2:p.Asp364Glu
  • NP_009231.2:p.Asp411Glu
  • LRG_292t1:c.1233T>G
  • LRG_292:g.123686T>G
  • LRG_292p1:p.Asp411Glu
  • NC_000017.10:g.41246315A>C
  • NM_007294.3:c.1233T>G
  • NR_027676.1:n.1369T>G
  • U14680.1:n.1352T>G
  • p.D411E
Nucleotide change:
1352T>G
Protein change:
D115E
Links:
dbSNP: rs80357024
NCBI 1000 Genomes Browser:
rs80357024
Molecular consequence:
  • NM_001407968.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+443T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3266T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3266T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3266T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1032T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1029T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1029T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.852T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.852T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.849T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.852T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.729T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.345T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.345T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000517031GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely benign
(Nov 21, 2017)
germlineclinical testing

Citation Link,

SCV000698836Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Apr 7, 2023)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036
See all PubMed Citations (8)

Details of each submission

From GeneDx, SCV000517031.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698836.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

Variant summary: BRCA1 c.1233T>G (p.Asp411Glu) results in a conservative amino acid change located in the 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 2.9e-05 in 349536 control chromosomes, predominantly at a frequency of 0.00049 within the African or African-American subpopulation in the gnomAD database. Though this frequency is not higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.00049 vs 0.001), the variant might still represent a benign polymorphism. In addition, the variant was also reported in 1/7325 European American women (frequency: 0.00014) and 2/2559 African American women (frequency: 0.0008), who were older than age 70 years and have never had cancer (in the FLOSSIES database). Overall, the available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1233T>G has been reported in the literature as a VUS in settings of multigene panel testing/custom genotyping arrays in cohorts of individuals with breast cancer (example, Maxwell_2014, Judkins_2005, Abkevich_2004, Shimelis_2017). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as benign/likely benign. 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: Jun 23, 2024