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

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Dec 12, 2020
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:: RCV000120298.23

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]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084450	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000538457	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Dec 20, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000699315	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Dec 12, 2020)	germline	clinical testing	PubMed (17) [See all records that cite these PMIDs] 16267036, 15235020, 15168169, 14973102, 21218378, 19491284, 24728327, 12624724, 27257965, 27683183, 27383479, 28111427, 30093976, 30287823, 30702160, 29770616, 30415210 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000084450

ITMI

no classification provided

not provided

germline

reference population

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

SCV000538457

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Dec 20, 2016)

germline

clinical testing

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

SCV000699315

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Dec 12, 2020)

germline

clinical testing

PubMed (17)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

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 (18)

Details of each submission

From ITMI, SCV000084450.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0.0081	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538457.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 4 papers in HGMD, that include affected and unaffected individuals. This variant is classified in ClinVar with 2 stars as VUS by Invitae, Ambry, GeneDx, and West China Hospital. The variant has a Max MAF of 0.13% in ExAC (12 East Asian alleles) and 0.1% in gnomAD (20 alleles). 19 non-mammals have an Asp at this position.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699315.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (17)

Description

Variant summary: BRCA1 c.824G>A (p.Gly275Asp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00022 in 298510 control chromosomes, exclusively reported within the East Asian subpopulation at a frequency of 0.001 (in the gnomAD database and in Momozawa_2018). This frequency is comparable to the expected maximum frequency for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.001 vs 0.001), suggesting the variant could be a benign polymorphism found in populations from East Asia. In addition, the variant was reported in some East Asian subpopulations with even higher allele frequencies, e.g. in Koreans (0.0026, in gnomAD), and in Japanese (0.0012, in HGVD), further supporting a benign role for the variant. c.824G>A has been reported in the literature numerous individuals (generally in East Asians) affected with breast- and ovarian cancer and other tumor phenotypes (Carney_2010, Haffty_2009, Judkins_2005, Kato_2016, Kawahara_2004, Sakayori_2003, Shin_2016, Suter_2004, Zhong_2016, Bhaskaran_2019, Chan_2018, Choi_2018, Lee_2018, Park_2017), but was also found in several unaffected East Asian controls (Park_2017, Momozawa_2018). At-least two co-occurrences with another likely pathogenic variant (BRCA1 c.5165C>T, p.Ser1722Phe; Chan_2018) and a pathogenic variant (BRCA2 c.2808_2811delACAA, p.Ala938Profs, internal testing observation) have been observed, providing supporting evidence for a benign role. Two recent case-control association studies, involving breast cancer patients and controls of Korean- (Park_2017) and Japanese ancestry (Momozawa 2018), found that the variant is not associated with a significant increase in breast/ovarian cancer risk, and therefore the authors of these studies classified that the variant as likely benign/benign, respectively. In addition, in a study involving Korean breast cancer patients, multifactorial probability was estimated by performing systematic assessments of variants of unknown significance in the BRCA genes (which included analysis of co-occurrence with known deleterious mutations, personal and family history of cancer and tumor pathology) and predicted this variant to be likely benign (Lee_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eleven other clinical diagnostic laboratories and one expert panel (ENIGMA) have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as likely benign (n=5), benign (n=1, ENIGMA) and VUS (n=6). Several submitters cite overlapping evidence utilized in the context of this evaluation. Based on the absence of any actionable evidence supporting causality in over 15 years of review and co-occurrence with other pathogenic variants in the BRCA1/2 genes, further supported by an expert panel assessment as outlined above, the variant was re-classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine