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NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Oct 29, 2019
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:
RCV000589691.22

Allele description [Variation Report for NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)]

NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)

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.824G>A (p.Gly275Asp)
Other names:
p.G275D:GGC>GAC
HGVS:
  • NC_000017.11:g.43094707C>T
  • NG_005905.2:g.123277G>A
  • NM_001407571.1:c.611G>A
  • NM_001407581.1:c.824G>A
  • NM_001407582.1:c.824G>A
  • NM_001407583.1:c.824G>A
  • NM_001407585.1:c.824G>A
  • NM_001407587.1:c.821G>A
  • NM_001407590.1:c.821G>A
  • NM_001407591.1:c.821G>A
  • NM_001407593.1:c.824G>A
  • NM_001407594.1:c.824G>A
  • NM_001407596.1:c.824G>A
  • NM_001407597.1:c.824G>A
  • NM_001407598.1:c.824G>A
  • NM_001407602.1:c.824G>A
  • NM_001407603.1:c.824G>A
  • NM_001407605.1:c.824G>A
  • NM_001407610.1:c.821G>A
  • NM_001407611.1:c.821G>A
  • NM_001407612.1:c.821G>A
  • NM_001407613.1:c.821G>A
  • NM_001407614.1:c.821G>A
  • NM_001407615.1:c.821G>A
  • NM_001407616.1:c.824G>A
  • NM_001407617.1:c.824G>A
  • NM_001407618.1:c.824G>A
  • NM_001407619.1:c.824G>A
  • NM_001407620.1:c.824G>A
  • NM_001407621.1:c.824G>A
  • NM_001407622.1:c.824G>A
  • NM_001407623.1:c.824G>A
  • NM_001407624.1:c.824G>A
  • NM_001407625.1:c.824G>A
  • NM_001407626.1:c.824G>A
  • NM_001407627.1:c.821G>A
  • NM_001407628.1:c.821G>A
  • NM_001407629.1:c.821G>A
  • NM_001407630.1:c.821G>A
  • NM_001407631.1:c.821G>A
  • NM_001407632.1:c.821G>A
  • NM_001407633.1:c.821G>A
  • NM_001407634.1:c.821G>A
  • NM_001407635.1:c.821G>A
  • NM_001407636.1:c.821G>A
  • NM_001407637.1:c.821G>A
  • NM_001407638.1:c.821G>A
  • NM_001407639.1:c.824G>A
  • NM_001407640.1:c.824G>A
  • NM_001407641.1:c.824G>A
  • NM_001407642.1:c.824G>A
  • NM_001407644.1:c.821G>A
  • NM_001407645.1:c.821G>A
  • NM_001407646.1:c.815G>A
  • NM_001407647.1:c.815G>A
  • NM_001407648.1:c.701G>A
  • NM_001407649.1:c.698G>A
  • NM_001407652.1:c.824G>A
  • NM_001407653.1:c.746G>A
  • NM_001407654.1:c.746G>A
  • NM_001407655.1:c.746G>A
  • NM_001407656.1:c.746G>A
  • NM_001407657.1:c.746G>A
  • NM_001407658.1:c.746G>A
  • NM_001407659.1:c.743G>A
  • NM_001407660.1:c.743G>A
  • NM_001407661.1:c.743G>A
  • NM_001407662.1:c.743G>A
  • NM_001407663.1:c.746G>A
  • NM_001407664.1:c.701G>A
  • NM_001407665.1:c.701G>A
  • NM_001407666.1:c.701G>A
  • NM_001407667.1:c.701G>A
  • NM_001407668.1:c.701G>A
  • NM_001407669.1:c.701G>A
  • NM_001407670.1:c.698G>A
  • NM_001407671.1:c.698G>A
  • NM_001407672.1:c.698G>A
  • NM_001407673.1:c.698G>A
  • NM_001407674.1:c.701G>A
  • NM_001407675.1:c.701G>A
  • NM_001407676.1:c.701G>A
  • NM_001407677.1:c.701G>A
  • NM_001407678.1:c.701G>A
  • NM_001407679.1:c.701G>A
  • NM_001407680.1:c.701G>A
  • NM_001407681.1:c.701G>A
  • NM_001407682.1:c.701G>A
  • NM_001407683.1:c.701G>A
  • NM_001407684.1:c.824G>A
  • NM_001407685.1:c.698G>A
  • NM_001407686.1:c.698G>A
  • NM_001407687.1:c.698G>A
  • NM_001407688.1:c.698G>A
  • NM_001407689.1:c.698G>A
  • NM_001407690.1:c.698G>A
  • NM_001407691.1:c.698G>A
  • NM_001407692.1:c.683G>A
  • NM_001407694.1:c.683G>A
  • NM_001407695.1:c.683G>A
  • NM_001407696.1:c.683G>A
  • NM_001407697.1:c.683G>A
  • NM_001407698.1:c.683G>A
  • NM_001407724.1:c.683G>A
  • NM_001407725.1:c.683G>A
  • NM_001407726.1:c.683G>A
  • NM_001407727.1:c.683G>A
  • NM_001407728.1:c.683G>A
  • NM_001407729.1:c.683G>A
  • NM_001407730.1:c.683G>A
  • NM_001407731.1:c.683G>A
  • NM_001407732.1:c.683G>A
  • NM_001407733.1:c.683G>A
  • NM_001407734.1:c.683G>A
  • NM_001407735.1:c.683G>A
  • NM_001407736.1:c.683G>A
  • NM_001407737.1:c.683G>A
  • NM_001407738.1:c.683G>A
  • NM_001407739.1:c.683G>A
  • NM_001407740.1:c.680G>A
  • NM_001407741.1:c.680G>A
  • NM_001407742.1:c.680G>A
  • NM_001407743.1:c.680G>A
  • NM_001407744.1:c.680G>A
  • NM_001407745.1:c.680G>A
  • NM_001407746.1:c.680G>A
  • NM_001407747.1:c.680G>A
  • NM_001407748.1:c.680G>A
  • NM_001407749.1:c.680G>A
  • NM_001407750.1:c.683G>A
  • NM_001407751.1:c.683G>A
  • NM_001407752.1:c.683G>A
  • NM_001407838.1:c.680G>A
  • NM_001407839.1:c.680G>A
  • NM_001407841.1:c.680G>A
  • NM_001407842.1:c.680G>A
  • NM_001407843.1:c.680G>A
  • NM_001407844.1:c.680G>A
  • NM_001407845.1:c.680G>A
  • NM_001407846.1:c.680G>A
  • NM_001407847.1:c.680G>A
  • NM_001407848.1:c.680G>A
  • NM_001407849.1:c.680G>A
  • NM_001407850.1:c.683G>A
  • NM_001407851.1:c.683G>A
  • NM_001407852.1:c.683G>A
  • NM_001407853.1:c.611G>A
  • NM_001407854.1:c.824G>A
  • NM_001407858.1:c.824G>A
  • NM_001407859.1:c.824G>A
  • NM_001407860.1:c.821G>A
  • NM_001407861.1:c.821G>A
  • NM_001407862.1:c.623G>A
  • NM_001407863.1:c.701G>A
  • NM_001407874.1:c.620G>A
  • NM_001407875.1:c.620G>A
  • NM_001407879.1:c.614G>A
  • NM_001407881.1:c.614G>A
  • NM_001407882.1:c.614G>A
  • NM_001407884.1:c.614G>A
  • NM_001407885.1:c.614G>A
  • NM_001407886.1:c.614G>A
  • NM_001407887.1:c.614G>A
  • NM_001407889.1:c.614G>A
  • NM_001407894.1:c.611G>A
  • NM_001407895.1:c.611G>A
  • NM_001407896.1:c.611G>A
  • NM_001407897.1:c.611G>A
  • NM_001407898.1:c.611G>A
  • NM_001407899.1:c.611G>A
  • NM_001407900.1:c.614G>A
  • NM_001407902.1:c.614G>A
  • NM_001407904.1:c.614G>A
  • NM_001407906.1:c.614G>A
  • NM_001407907.1:c.614G>A
  • NM_001407908.1:c.614G>A
  • NM_001407909.1:c.614G>A
  • NM_001407910.1:c.614G>A
  • NM_001407915.1:c.611G>A
  • NM_001407916.1:c.611G>A
  • NM_001407917.1:c.611G>A
  • NM_001407918.1:c.611G>A
  • NM_001407919.1:c.701G>A
  • NM_001407920.1:c.560G>A
  • NM_001407921.1:c.560G>A
  • NM_001407922.1:c.560G>A
  • NM_001407923.1:c.560G>A
  • NM_001407924.1:c.560G>A
  • NM_001407925.1:c.560G>A
  • NM_001407926.1:c.560G>A
  • NM_001407927.1:c.560G>A
  • NM_001407928.1:c.560G>A
  • NM_001407929.1:c.560G>A
  • NM_001407930.1:c.557G>A
  • NM_001407931.1:c.557G>A
  • NM_001407932.1:c.557G>A
  • NM_001407933.1:c.560G>A
  • NM_001407934.1:c.557G>A
  • NM_001407935.1:c.560G>A
  • NM_001407936.1:c.557G>A
  • NM_001407937.1:c.701G>A
  • NM_001407938.1:c.701G>A
  • NM_001407939.1:c.701G>A
  • NM_001407940.1:c.698G>A
  • NM_001407941.1:c.698G>A
  • NM_001407942.1:c.683G>A
  • NM_001407943.1:c.680G>A
  • NM_001407944.1:c.683G>A
  • NM_001407945.1:c.683G>A
  • NM_001407946.1:c.491G>A
  • NM_001407947.1:c.491G>A
  • NM_001407948.1:c.491G>A
  • NM_001407949.1:c.491G>A
  • NM_001407950.1:c.491G>A
  • NM_001407951.1:c.491G>A
  • NM_001407952.1:c.491G>A
  • NM_001407953.1:c.491G>A
  • NM_001407954.1:c.488G>A
  • NM_001407955.1:c.488G>A
  • NM_001407956.1:c.488G>A
  • NM_001407957.1:c.491G>A
  • NM_001407958.1:c.488G>A
  • NM_001407959.1:c.443G>A
  • NM_001407960.1:c.443G>A
  • NM_001407962.1:c.440G>A
  • NM_001407963.1:c.443G>A
  • NM_001407964.1:c.680G>A
  • NM_001407965.1:c.320G>A
  • NM_001407966.1:c.-65G>A
  • NM_001407967.1:c.-65G>A
  • NM_001407968.1:c.787+37G>A
  • NM_001407969.1:c.787+37G>A
  • NM_001407970.1:c.787+37G>A
  • NM_001407971.1:c.787+37G>A
  • NM_001407972.1:c.784+37G>A
  • NM_001407973.1:c.787+37G>A
  • NM_001407974.1:c.787+37G>A
  • NM_001407975.1:c.787+37G>A
  • NM_001407976.1:c.787+37G>A
  • NM_001407977.1:c.787+37G>A
  • NM_001407978.1:c.787+37G>A
  • NM_001407979.1:c.787+37G>A
  • NM_001407980.1:c.787+37G>A
  • NM_001407981.1:c.787+37G>A
  • NM_001407982.1:c.787+37G>A
  • NM_001407983.1:c.787+37G>A
  • NM_001407984.1:c.784+37G>A
  • NM_001407985.1:c.784+37G>A
  • NM_001407986.1:c.784+37G>A
  • NM_001407990.1:c.787+37G>A
  • NM_001407991.1:c.784+37G>A
  • NM_001407992.1:c.784+37G>A
  • NM_001407993.1:c.787+37G>A
  • NM_001408392.1:c.784+37G>A
  • NM_001408396.1:c.784+37G>A
  • NM_001408397.1:c.784+37G>A
  • NM_001408398.1:c.784+37G>A
  • NM_001408399.1:c.784+37G>A
  • NM_001408400.1:c.784+37G>A
  • NM_001408401.1:c.784+37G>A
  • NM_001408402.1:c.784+37G>A
  • NM_001408403.1:c.787+37G>A
  • NM_001408404.1:c.787+37G>A
  • NM_001408406.1:c.790+34G>A
  • NM_001408407.1:c.784+37G>A
  • NM_001408408.1:c.778+37G>A
  • NM_001408409.1:c.709+37G>A
  • NM_001408410.1:c.646+37G>A
  • NM_001408411.1:c.709+37G>A
  • NM_001408412.1:c.709+37G>A
  • NM_001408413.1:c.706+37G>A
  • NM_001408414.1:c.709+37G>A
  • NM_001408415.1:c.709+37G>A
  • NM_001408416.1:c.706+37G>A
  • NM_001408418.1:c.670+1139G>A
  • NM_001408419.1:c.670+1139G>A
  • NM_001408420.1:c.670+1139G>A
  • NM_001408421.1:c.667+1139G>A
  • NM_001408422.1:c.670+1139G>A
  • NM_001408423.1:c.670+1139G>A
  • NM_001408424.1:c.667+1139G>A
  • NM_001408425.1:c.664+37G>A
  • NM_001408426.1:c.664+37G>A
  • NM_001408427.1:c.664+37G>A
  • NM_001408428.1:c.664+37G>A
  • NM_001408429.1:c.664+37G>A
  • NM_001408430.1:c.664+37G>A
  • NM_001408431.1:c.667+1139G>A
  • NM_001408432.1:c.661+37G>A
  • NM_001408433.1:c.661+37G>A
  • NM_001408434.1:c.661+37G>A
  • NM_001408435.1:c.661+37G>A
  • NM_001408436.1:c.664+37G>A
  • NM_001408437.1:c.664+37G>A
  • NM_001408438.1:c.664+37G>A
  • NM_001408439.1:c.664+37G>A
  • NM_001408440.1:c.664+37G>A
  • NM_001408441.1:c.664+37G>A
  • NM_001408442.1:c.664+37G>A
  • NM_001408443.1:c.664+37G>A
  • NM_001408444.1:c.664+37G>A
  • NM_001408445.1:c.661+37G>A
  • NM_001408446.1:c.661+37G>A
  • NM_001408447.1:c.661+37G>A
  • NM_001408448.1:c.661+37G>A
  • NM_001408450.1:c.661+37G>A
  • NM_001408451.1:c.652+37G>A
  • NM_001408452.1:c.646+37G>A
  • NM_001408453.1:c.646+37G>A
  • NM_001408454.1:c.646+37G>A
  • NM_001408455.1:c.646+37G>A
  • NM_001408456.1:c.646+37G>A
  • NM_001408457.1:c.646+37G>A
  • NM_001408458.1:c.646+37G>A
  • NM_001408459.1:c.646+37G>A
  • NM_001408460.1:c.646+37G>A
  • NM_001408461.1:c.646+37G>A
  • NM_001408462.1:c.643+37G>A
  • NM_001408463.1:c.643+37G>A
  • NM_001408464.1:c.643+37G>A
  • NM_001408465.1:c.643+37G>A
  • NM_001408466.1:c.646+37G>A
  • NM_001408467.1:c.646+37G>A
  • NM_001408468.1:c.643+37G>A
  • NM_001408469.1:c.646+37G>A
  • NM_001408470.1:c.643+37G>A
  • NM_001408472.1:c.787+37G>A
  • NM_001408473.1:c.784+37G>A
  • NM_001408474.1:c.586+37G>A
  • NM_001408475.1:c.583+37G>A
  • NM_001408476.1:c.586+37G>A
  • NM_001408478.1:c.577+37G>A
  • NM_001408479.1:c.577+37G>A
  • NM_001408480.1:c.577+37G>A
  • NM_001408481.1:c.577+37G>A
  • NM_001408482.1:c.577+37G>A
  • NM_001408483.1:c.577+37G>A
  • NM_001408484.1:c.577+37G>A
  • NM_001408485.1:c.577+37G>A
  • NM_001408489.1:c.577+37G>A
  • NM_001408490.1:c.574+37G>A
  • NM_001408491.1:c.574+37G>A
  • NM_001408492.1:c.577+37G>A
  • NM_001408493.1:c.574+37G>A
  • NM_001408494.1:c.548-3675G>A
  • NM_001408495.1:c.545-3675G>A
  • NM_001408496.1:c.523+37G>A
  • NM_001408497.1:c.523+37G>A
  • NM_001408498.1:c.523+37G>A
  • NM_001408499.1:c.523+37G>A
  • NM_001408500.1:c.523+37G>A
  • NM_001408501.1:c.523+37G>A
  • NM_001408502.1:c.454+37G>A
  • NM_001408503.1:c.520+37G>A
  • NM_001408504.1:c.520+37G>A
  • NM_001408505.1:c.520+37G>A
  • NM_001408506.1:c.460+1139G>A
  • NM_001408507.1:c.460+1139G>A
  • NM_001408508.1:c.451+37G>A
  • NM_001408509.1:c.451+37G>A
  • NM_001408510.1:c.406+37G>A
  • NM_001408511.1:c.404-3675G>A
  • NM_001408512.1:c.283+37G>A
  • NM_001408513.1:c.577+37G>A
  • NM_001408514.1:c.577+37G>A
  • NM_007294.4:c.824G>AMANE SELECT
  • NM_007297.4:c.683G>A
  • NM_007298.4:c.787+37G>A
  • NM_007299.4:c.787+37G>A
  • NM_007300.4:c.824G>A
  • NP_001394500.1:p.Gly204Asp
  • NP_001394510.1:p.Gly275Asp
  • NP_001394511.1:p.Gly275Asp
  • NP_001394512.1:p.Gly275Asp
  • NP_001394514.1:p.Gly275Asp
  • NP_001394516.1:p.Gly274Asp
  • NP_001394519.1:p.Gly274Asp
  • NP_001394520.1:p.Gly274Asp
  • NP_001394522.1:p.Gly275Asp
  • NP_001394523.1:p.Gly275Asp
  • NP_001394525.1:p.Gly275Asp
  • NP_001394526.1:p.Gly275Asp
  • NP_001394527.1:p.Gly275Asp
  • NP_001394531.1:p.Gly275Asp
  • NP_001394532.1:p.Gly275Asp
  • NP_001394534.1:p.Gly275Asp
  • NP_001394539.1:p.Gly274Asp
  • NP_001394540.1:p.Gly274Asp
  • NP_001394541.1:p.Gly274Asp
  • NP_001394542.1:p.Gly274Asp
  • NP_001394543.1:p.Gly274Asp
  • NP_001394544.1:p.Gly274Asp
  • NP_001394545.1:p.Gly275Asp
  • NP_001394546.1:p.Gly275Asp
  • NP_001394547.1:p.Gly275Asp
  • NP_001394548.1:p.Gly275Asp
  • NP_001394549.1:p.Gly275Asp
  • NP_001394550.1:p.Gly275Asp
  • NP_001394551.1:p.Gly275Asp
  • NP_001394552.1:p.Gly275Asp
  • NP_001394553.1:p.Gly275Asp
  • NP_001394554.1:p.Gly275Asp
  • NP_001394555.1:p.Gly275Asp
  • NP_001394556.1:p.Gly274Asp
  • NP_001394557.1:p.Gly274Asp
  • NP_001394558.1:p.Gly274Asp
  • NP_001394559.1:p.Gly274Asp
  • NP_001394560.1:p.Gly274Asp
  • NP_001394561.1:p.Gly274Asp
  • NP_001394562.1:p.Gly274Asp
  • NP_001394563.1:p.Gly274Asp
  • NP_001394564.1:p.Gly274Asp
  • NP_001394565.1:p.Gly274Asp
  • NP_001394566.1:p.Gly274Asp
  • NP_001394567.1:p.Gly274Asp
  • NP_001394568.1:p.Gly275Asp
  • NP_001394569.1:p.Gly275Asp
  • NP_001394570.1:p.Gly275Asp
  • NP_001394571.1:p.Gly275Asp
  • NP_001394573.1:p.Gly274Asp
  • NP_001394574.1:p.Gly274Asp
  • NP_001394575.1:p.Gly272Asp
  • NP_001394576.1:p.Gly272Asp
  • NP_001394577.1:p.Gly234Asp
  • NP_001394578.1:p.Gly233Asp
  • NP_001394581.1:p.Gly275Asp
  • NP_001394582.1:p.Gly249Asp
  • NP_001394583.1:p.Gly249Asp
  • NP_001394584.1:p.Gly249Asp
  • NP_001394585.1:p.Gly249Asp
  • NP_001394586.1:p.Gly249Asp
  • NP_001394587.1:p.Gly249Asp
  • NP_001394588.1:p.Gly248Asp
  • NP_001394589.1:p.Gly248Asp
  • NP_001394590.1:p.Gly248Asp
  • NP_001394591.1:p.Gly248Asp
  • NP_001394592.1:p.Gly249Asp
  • NP_001394593.1:p.Gly234Asp
  • NP_001394594.1:p.Gly234Asp
  • NP_001394595.1:p.Gly234Asp
  • NP_001394596.1:p.Gly234Asp
  • NP_001394597.1:p.Gly234Asp
  • NP_001394598.1:p.Gly234Asp
  • NP_001394599.1:p.Gly233Asp
  • NP_001394600.1:p.Gly233Asp
  • NP_001394601.1:p.Gly233Asp
  • NP_001394602.1:p.Gly233Asp
  • NP_001394603.1:p.Gly234Asp
  • NP_001394604.1:p.Gly234Asp
  • NP_001394605.1:p.Gly234Asp
  • NP_001394606.1:p.Gly234Asp
  • NP_001394607.1:p.Gly234Asp
  • NP_001394608.1:p.Gly234Asp
  • NP_001394609.1:p.Gly234Asp
  • NP_001394610.1:p.Gly234Asp
  • NP_001394611.1:p.Gly234Asp
  • NP_001394612.1:p.Gly234Asp
  • NP_001394613.1:p.Gly275Asp
  • NP_001394614.1:p.Gly233Asp
  • NP_001394615.1:p.Gly233Asp
  • NP_001394616.1:p.Gly233Asp
  • NP_001394617.1:p.Gly233Asp
  • NP_001394618.1:p.Gly233Asp
  • NP_001394619.1:p.Gly233Asp
  • NP_001394620.1:p.Gly233Asp
  • NP_001394621.1:p.Gly228Asp
  • NP_001394623.1:p.Gly228Asp
  • NP_001394624.1:p.Gly228Asp
  • NP_001394625.1:p.Gly228Asp
  • NP_001394626.1:p.Gly228Asp
  • NP_001394627.1:p.Gly228Asp
  • NP_001394653.1:p.Gly228Asp
  • NP_001394654.1:p.Gly228Asp
  • NP_001394655.1:p.Gly228Asp
  • NP_001394656.1:p.Gly228Asp
  • NP_001394657.1:p.Gly228Asp
  • NP_001394658.1:p.Gly228Asp
  • NP_001394659.1:p.Gly228Asp
  • NP_001394660.1:p.Gly228Asp
  • NP_001394661.1:p.Gly228Asp
  • NP_001394662.1:p.Gly228Asp
  • NP_001394663.1:p.Gly228Asp
  • NP_001394664.1:p.Gly228Asp
  • NP_001394665.1:p.Gly228Asp
  • NP_001394666.1:p.Gly228Asp
  • NP_001394667.1:p.Gly228Asp
  • NP_001394668.1:p.Gly228Asp
  • NP_001394669.1:p.Gly227Asp
  • NP_001394670.1:p.Gly227Asp
  • NP_001394671.1:p.Gly227Asp
  • NP_001394672.1:p.Gly227Asp
  • NP_001394673.1:p.Gly227Asp
  • NP_001394674.1:p.Gly227Asp
  • NP_001394675.1:p.Gly227Asp
  • NP_001394676.1:p.Gly227Asp
  • NP_001394677.1:p.Gly227Asp
  • NP_001394678.1:p.Gly227Asp
  • NP_001394679.1:p.Gly228Asp
  • NP_001394680.1:p.Gly228Asp
  • NP_001394681.1:p.Gly228Asp
  • NP_001394767.1:p.Gly227Asp
  • NP_001394768.1:p.Gly227Asp
  • NP_001394770.1:p.Gly227Asp
  • NP_001394771.1:p.Gly227Asp
  • NP_001394772.1:p.Gly227Asp
  • NP_001394773.1:p.Gly227Asp
  • NP_001394774.1:p.Gly227Asp
  • NP_001394775.1:p.Gly227Asp
  • NP_001394776.1:p.Gly227Asp
  • NP_001394777.1:p.Gly227Asp
  • NP_001394778.1:p.Gly227Asp
  • NP_001394779.1:p.Gly228Asp
  • NP_001394780.1:p.Gly228Asp
  • NP_001394781.1:p.Gly228Asp
  • NP_001394782.1:p.Gly204Asp
  • NP_001394783.1:p.Gly275Asp
  • NP_001394787.1:p.Gly275Asp
  • NP_001394788.1:p.Gly275Asp
  • NP_001394789.1:p.Gly274Asp
  • NP_001394790.1:p.Gly274Asp
  • NP_001394791.1:p.Gly208Asp
  • NP_001394792.1:p.Gly234Asp
  • NP_001394803.1:p.Gly207Asp
  • NP_001394804.1:p.Gly207Asp
  • NP_001394808.1:p.Gly205Asp
  • NP_001394810.1:p.Gly205Asp
  • NP_001394811.1:p.Gly205Asp
  • NP_001394813.1:p.Gly205Asp
  • NP_001394814.1:p.Gly205Asp
  • NP_001394815.1:p.Gly205Asp
  • NP_001394816.1:p.Gly205Asp
  • NP_001394818.1:p.Gly205Asp
  • NP_001394823.1:p.Gly204Asp
  • NP_001394824.1:p.Gly204Asp
  • NP_001394825.1:p.Gly204Asp
  • NP_001394826.1:p.Gly204Asp
  • NP_001394827.1:p.Gly204Asp
  • NP_001394828.1:p.Gly204Asp
  • NP_001394829.1:p.Gly205Asp
  • NP_001394831.1:p.Gly205Asp
  • NP_001394833.1:p.Gly205Asp
  • NP_001394835.1:p.Gly205Asp
  • NP_001394836.1:p.Gly205Asp
  • NP_001394837.1:p.Gly205Asp
  • NP_001394838.1:p.Gly205Asp
  • NP_001394839.1:p.Gly205Asp
  • NP_001394844.1:p.Gly204Asp
  • NP_001394845.1:p.Gly204Asp
  • NP_001394846.1:p.Gly204Asp
  • NP_001394847.1:p.Gly204Asp
  • NP_001394848.1:p.Gly234Asp
  • NP_001394849.1:p.Gly187Asp
  • NP_001394850.1:p.Gly187Asp
  • NP_001394851.1:p.Gly187Asp
  • NP_001394852.1:p.Gly187Asp
  • NP_001394853.1:p.Gly187Asp
  • NP_001394854.1:p.Gly187Asp
  • NP_001394855.1:p.Gly187Asp
  • NP_001394856.1:p.Gly187Asp
  • NP_001394857.1:p.Gly187Asp
  • NP_001394858.1:p.Gly187Asp
  • NP_001394859.1:p.Gly186Asp
  • NP_001394860.1:p.Gly186Asp
  • NP_001394861.1:p.Gly186Asp
  • NP_001394862.1:p.Gly187Asp
  • NP_001394863.1:p.Gly186Asp
  • NP_001394864.1:p.Gly187Asp
  • NP_001394865.1:p.Gly186Asp
  • NP_001394866.1:p.Gly234Asp
  • NP_001394867.1:p.Gly234Asp
  • NP_001394868.1:p.Gly234Asp
  • NP_001394869.1:p.Gly233Asp
  • NP_001394870.1:p.Gly233Asp
  • NP_001394871.1:p.Gly228Asp
  • NP_001394872.1:p.Gly227Asp
  • NP_001394873.1:p.Gly228Asp
  • NP_001394874.1:p.Gly228Asp
  • NP_001394875.1:p.Gly164Asp
  • NP_001394876.1:p.Gly164Asp
  • NP_001394877.1:p.Gly164Asp
  • NP_001394878.1:p.Gly164Asp
  • NP_001394879.1:p.Gly164Asp
  • NP_001394880.1:p.Gly164Asp
  • NP_001394881.1:p.Gly164Asp
  • NP_001394882.1:p.Gly164Asp
  • NP_001394883.1:p.Gly163Asp
  • NP_001394884.1:p.Gly163Asp
  • NP_001394885.1:p.Gly163Asp
  • NP_001394886.1:p.Gly164Asp
  • NP_001394887.1:p.Gly163Asp
  • NP_001394888.1:p.Gly148Asp
  • NP_001394889.1:p.Gly148Asp
  • NP_001394891.1:p.Gly147Asp
  • NP_001394892.1:p.Gly148Asp
  • NP_001394893.1:p.Gly227Asp
  • NP_001394894.1:p.Gly107Asp
  • NP_009225.1:p.Gly275Asp
  • NP_009225.1:p.Gly275Asp
  • NP_009228.2:p.Gly228Asp
  • NP_009231.2:p.Gly275Asp
  • LRG_292t1:c.824G>A
  • LRG_292:g.123277G>A
  • LRG_292p1:p.Gly275Asp
  • NC_000017.10:g.41246724C>T
  • NM_007294.3:c.824G>A
  • NR_027676.1:n.960G>A
  • p.G275D
Protein change:
G107D
Links:
dbSNP: rs397509327
NCBI 1000 Genomes Browser:
rs397509327
Molecular consequence:
  • NM_001407966.1:c.-65G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407967.1:c.-65G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407968.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+34G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3675G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3675G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1139G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3675G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+37G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.743G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.746G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.623G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.557G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.701G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.488G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.683G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000210091GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Oct 29, 2019) 		germlineclinical testing

Citation Link,

SCV000337720Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Nov 24, 2015) 		germlineclinical testing

Citation Link,

SCV001133654Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Aug 28, 2018) 		germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

Haffty BG, Choi DH, Goyal S, Silber A, Ranieri K, Matloff E, Lee MH, Nissenblatt M, Toppmeyer D, Moran MS.

Ann Oncol. 2009 Oct;20(10):1653-9. doi: 10.1093/annonc/mdp051. Epub 2009 Jun 2.

PubMed [citation]
PMID:
19491284

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826
See all PubMed Citations (13)

Details of each submission

From GeneDx, SCV000210091.8

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

Description

This variant is associated with the following publications: (PMID: 19491284, 22116506, 29601120, 30702160, 32426482, 15235020, 24728327, 12624724, 14973102, 15168169, 27257965, 27383479, 27124784, 29770616, 30093976, 30415210, 30287823, 31481248, 28111427, 28364669, 25823446, 31348995)

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

From Eurofins Ntd Llc (ga), SCV000337720.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133654.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024