NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) AND not specified

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000049158.29

Allele description [Variation Report for NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)]

NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)

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.823G>A (p.Gly275Ser)

Other names:

p.G275S:GGC>AGC

HGVS:

NC_000017.11:g.43094708C>T
NG_005905.2:g.123276G>A
NM_001407571.1:c.610G>A
NM_001407581.1:c.823G>A
NM_001407582.1:c.823G>A
NM_001407583.1:c.823G>A
NM_001407585.1:c.823G>A
NM_001407587.1:c.820G>A
NM_001407590.1:c.820G>A
NM_001407591.1:c.820G>A
NM_001407593.1:c.823G>A
NM_001407594.1:c.823G>A
NM_001407596.1:c.823G>A
NM_001407597.1:c.823G>A
NM_001407598.1:c.823G>A
NM_001407602.1:c.823G>A
NM_001407603.1:c.823G>A
NM_001407605.1:c.823G>A
NM_001407610.1:c.820G>A
NM_001407611.1:c.820G>A
NM_001407612.1:c.820G>A
NM_001407613.1:c.820G>A
NM_001407614.1:c.820G>A
NM_001407615.1:c.820G>A
NM_001407616.1:c.823G>A
NM_001407617.1:c.823G>A
NM_001407618.1:c.823G>A
NM_001407619.1:c.823G>A
NM_001407620.1:c.823G>A
NM_001407621.1:c.823G>A
NM_001407622.1:c.823G>A
NM_001407623.1:c.823G>A
NM_001407624.1:c.823G>A
NM_001407625.1:c.823G>A
NM_001407626.1:c.823G>A
NM_001407627.1:c.820G>A
NM_001407628.1:c.820G>A
NM_001407629.1:c.820G>A
NM_001407630.1:c.820G>A
NM_001407631.1:c.820G>A
NM_001407632.1:c.820G>A
NM_001407633.1:c.820G>A
NM_001407634.1:c.820G>A
NM_001407635.1:c.820G>A
NM_001407636.1:c.820G>A
NM_001407637.1:c.820G>A
NM_001407638.1:c.820G>A
NM_001407639.1:c.823G>A
NM_001407640.1:c.823G>A
NM_001407641.1:c.823G>A
NM_001407642.1:c.823G>A
NM_001407644.1:c.820G>A
NM_001407645.1:c.820G>A
NM_001407646.1:c.814G>A
NM_001407647.1:c.814G>A
NM_001407648.1:c.700G>A
NM_001407649.1:c.697G>A
NM_001407652.1:c.823G>A
NM_001407653.1:c.745G>A
NM_001407654.1:c.745G>A
NM_001407655.1:c.745G>A
NM_001407656.1:c.745G>A
NM_001407657.1:c.745G>A
NM_001407658.1:c.745G>A
NM_001407659.1:c.742G>A
NM_001407660.1:c.742G>A
NM_001407661.1:c.742G>A
NM_001407662.1:c.742G>A
NM_001407663.1:c.745G>A
NM_001407664.1:c.700G>A
NM_001407665.1:c.700G>A
NM_001407666.1:c.700G>A
NM_001407667.1:c.700G>A
NM_001407668.1:c.700G>A
NM_001407669.1:c.700G>A
NM_001407670.1:c.697G>A
NM_001407671.1:c.697G>A
NM_001407672.1:c.697G>A
NM_001407673.1:c.697G>A
NM_001407674.1:c.700G>A
NM_001407675.1:c.700G>A
NM_001407676.1:c.700G>A
NM_001407677.1:c.700G>A
NM_001407678.1:c.700G>A
NM_001407679.1:c.700G>A
NM_001407680.1:c.700G>A
NM_001407681.1:c.700G>A
NM_001407682.1:c.700G>A
NM_001407683.1:c.700G>A
NM_001407684.1:c.823G>A
NM_001407685.1:c.697G>A
NM_001407686.1:c.697G>A
NM_001407687.1:c.697G>A
NM_001407688.1:c.697G>A
NM_001407689.1:c.697G>A
NM_001407690.1:c.697G>A
NM_001407691.1:c.697G>A
NM_001407692.1:c.682G>A
NM_001407694.1:c.682G>A
NM_001407695.1:c.682G>A
NM_001407696.1:c.682G>A
NM_001407697.1:c.682G>A
NM_001407698.1:c.682G>A
NM_001407724.1:c.682G>A
NM_001407725.1:c.682G>A
NM_001407726.1:c.682G>A
NM_001407727.1:c.682G>A
NM_001407728.1:c.682G>A
NM_001407729.1:c.682G>A
NM_001407730.1:c.682G>A
NM_001407731.1:c.682G>A
NM_001407732.1:c.682G>A
NM_001407733.1:c.682G>A
NM_001407734.1:c.682G>A
NM_001407735.1:c.682G>A
NM_001407736.1:c.682G>A
NM_001407737.1:c.682G>A
NM_001407738.1:c.682G>A
NM_001407739.1:c.682G>A
NM_001407740.1:c.679G>A
NM_001407741.1:c.679G>A
NM_001407742.1:c.679G>A
NM_001407743.1:c.679G>A
NM_001407744.1:c.679G>A
NM_001407745.1:c.679G>A
NM_001407746.1:c.679G>A
NM_001407747.1:c.679G>A
NM_001407748.1:c.679G>A
NM_001407749.1:c.679G>A
NM_001407750.1:c.682G>A
NM_001407751.1:c.682G>A
NM_001407752.1:c.682G>A
NM_001407838.1:c.679G>A
NM_001407839.1:c.679G>A
NM_001407841.1:c.679G>A
NM_001407842.1:c.679G>A
NM_001407843.1:c.679G>A
NM_001407844.1:c.679G>A
NM_001407845.1:c.679G>A
NM_001407846.1:c.679G>A
NM_001407847.1:c.679G>A
NM_001407848.1:c.679G>A
NM_001407849.1:c.679G>A
NM_001407850.1:c.682G>A
NM_001407851.1:c.682G>A
NM_001407852.1:c.682G>A
NM_001407853.1:c.610G>A
NM_001407854.1:c.823G>A
NM_001407858.1:c.823G>A
NM_001407859.1:c.823G>A
NM_001407860.1:c.820G>A
NM_001407861.1:c.820G>A
NM_001407862.1:c.622G>A
NM_001407863.1:c.700G>A
NM_001407874.1:c.619G>A
NM_001407875.1:c.619G>A
NM_001407879.1:c.613G>A
NM_001407881.1:c.613G>A
NM_001407882.1:c.613G>A
NM_001407884.1:c.613G>A
NM_001407885.1:c.613G>A
NM_001407886.1:c.613G>A
NM_001407887.1:c.613G>A
NM_001407889.1:c.613G>A
NM_001407894.1:c.610G>A
NM_001407895.1:c.610G>A
NM_001407896.1:c.610G>A
NM_001407897.1:c.610G>A
NM_001407898.1:c.610G>A
NM_001407899.1:c.610G>A
NM_001407900.1:c.613G>A
NM_001407902.1:c.613G>A
NM_001407904.1:c.613G>A
NM_001407906.1:c.613G>A
NM_001407907.1:c.613G>A
NM_001407908.1:c.613G>A
NM_001407909.1:c.613G>A
NM_001407910.1:c.613G>A
NM_001407915.1:c.610G>A
NM_001407916.1:c.610G>A
NM_001407917.1:c.610G>A
NM_001407918.1:c.610G>A
NM_001407919.1:c.700G>A
NM_001407920.1:c.559G>A
NM_001407921.1:c.559G>A
NM_001407922.1:c.559G>A
NM_001407923.1:c.559G>A
NM_001407924.1:c.559G>A
NM_001407925.1:c.559G>A
NM_001407926.1:c.559G>A
NM_001407927.1:c.559G>A
NM_001407928.1:c.559G>A
NM_001407929.1:c.559G>A
NM_001407930.1:c.556G>A
NM_001407931.1:c.556G>A
NM_001407932.1:c.556G>A
NM_001407933.1:c.559G>A
NM_001407934.1:c.556G>A
NM_001407935.1:c.559G>A
NM_001407936.1:c.556G>A
NM_001407937.1:c.700G>A
NM_001407938.1:c.700G>A
NM_001407939.1:c.700G>A
NM_001407940.1:c.697G>A
NM_001407941.1:c.697G>A
NM_001407942.1:c.682G>A
NM_001407943.1:c.679G>A
NM_001407944.1:c.682G>A
NM_001407945.1:c.682G>A
NM_001407946.1:c.490G>A
NM_001407947.1:c.490G>A
NM_001407948.1:c.490G>A
NM_001407949.1:c.490G>A
NM_001407950.1:c.490G>A
NM_001407951.1:c.490G>A
NM_001407952.1:c.490G>A
NM_001407953.1:c.490G>A
NM_001407954.1:c.487G>A
NM_001407955.1:c.487G>A
NM_001407956.1:c.487G>A
NM_001407957.1:c.490G>A
NM_001407958.1:c.487G>A
NM_001407959.1:c.442G>A
NM_001407960.1:c.442G>A
NM_001407962.1:c.439G>A
NM_001407963.1:c.442G>A
NM_001407964.1:c.679G>A
NM_001407965.1:c.319G>A
NM_001407966.1:c.-66G>A
NM_001407967.1:c.-66G>A
NM_001407968.1:c.787+36G>A
NM_001407969.1:c.787+36G>A
NM_001407970.1:c.787+36G>A
NM_001407971.1:c.787+36G>A
NM_001407972.1:c.784+36G>A
NM_001407973.1:c.787+36G>A
NM_001407974.1:c.787+36G>A
NM_001407975.1:c.787+36G>A
NM_001407976.1:c.787+36G>A
NM_001407977.1:c.787+36G>A
NM_001407978.1:c.787+36G>A
NM_001407979.1:c.787+36G>A
NM_001407980.1:c.787+36G>A
NM_001407981.1:c.787+36G>A
NM_001407982.1:c.787+36G>A
NM_001407983.1:c.787+36G>A
NM_001407984.1:c.784+36G>A
NM_001407985.1:c.784+36G>A
NM_001407986.1:c.784+36G>A
NM_001407990.1:c.787+36G>A
NM_001407991.1:c.784+36G>A
NM_001407992.1:c.784+36G>A
NM_001407993.1:c.787+36G>A
NM_001408392.1:c.784+36G>A
NM_001408396.1:c.784+36G>A
NM_001408397.1:c.784+36G>A
NM_001408398.1:c.784+36G>A
NM_001408399.1:c.784+36G>A
NM_001408400.1:c.784+36G>A
NM_001408401.1:c.784+36G>A
NM_001408402.1:c.784+36G>A
NM_001408403.1:c.787+36G>A
NM_001408404.1:c.787+36G>A
NM_001408406.1:c.790+33G>A
NM_001408407.1:c.784+36G>A
NM_001408408.1:c.778+36G>A
NM_001408409.1:c.709+36G>A
NM_001408410.1:c.646+36G>A
NM_001408411.1:c.709+36G>A
NM_001408412.1:c.709+36G>A
NM_001408413.1:c.706+36G>A
NM_001408414.1:c.709+36G>A
NM_001408415.1:c.709+36G>A
NM_001408416.1:c.706+36G>A
NM_001408418.1:c.670+1138G>A
NM_001408419.1:c.670+1138G>A
NM_001408420.1:c.670+1138G>A
NM_001408421.1:c.667+1138G>A
NM_001408422.1:c.670+1138G>A
NM_001408423.1:c.670+1138G>A
NM_001408424.1:c.667+1138G>A
NM_001408425.1:c.664+36G>A
NM_001408426.1:c.664+36G>A
NM_001408427.1:c.664+36G>A
NM_001408428.1:c.664+36G>A
NM_001408429.1:c.664+36G>A
NM_001408430.1:c.664+36G>A
NM_001408431.1:c.667+1138G>A
NM_001408432.1:c.661+36G>A
NM_001408433.1:c.661+36G>A
NM_001408434.1:c.661+36G>A
NM_001408435.1:c.661+36G>A
NM_001408436.1:c.664+36G>A
NM_001408437.1:c.664+36G>A
NM_001408438.1:c.664+36G>A
NM_001408439.1:c.664+36G>A
NM_001408440.1:c.664+36G>A
NM_001408441.1:c.664+36G>A
NM_001408442.1:c.664+36G>A
NM_001408443.1:c.664+36G>A
NM_001408444.1:c.664+36G>A
NM_001408445.1:c.661+36G>A
NM_001408446.1:c.661+36G>A
NM_001408447.1:c.661+36G>A
NM_001408448.1:c.661+36G>A
NM_001408450.1:c.661+36G>A
NM_001408451.1:c.652+36G>A
NM_001408452.1:c.646+36G>A
NM_001408453.1:c.646+36G>A
NM_001408454.1:c.646+36G>A
NM_001408455.1:c.646+36G>A
NM_001408456.1:c.646+36G>A
NM_001408457.1:c.646+36G>A
NM_001408458.1:c.646+36G>A
NM_001408459.1:c.646+36G>A
NM_001408460.1:c.646+36G>A
NM_001408461.1:c.646+36G>A
NM_001408462.1:c.643+36G>A
NM_001408463.1:c.643+36G>A
NM_001408464.1:c.643+36G>A
NM_001408465.1:c.643+36G>A
NM_001408466.1:c.646+36G>A
NM_001408467.1:c.646+36G>A
NM_001408468.1:c.643+36G>A
NM_001408469.1:c.646+36G>A
NM_001408470.1:c.643+36G>A
NM_001408472.1:c.787+36G>A
NM_001408473.1:c.784+36G>A
NM_001408474.1:c.586+36G>A
NM_001408475.1:c.583+36G>A
NM_001408476.1:c.586+36G>A
NM_001408478.1:c.577+36G>A
NM_001408479.1:c.577+36G>A
NM_001408480.1:c.577+36G>A
NM_001408481.1:c.577+36G>A
NM_001408482.1:c.577+36G>A
NM_001408483.1:c.577+36G>A
NM_001408484.1:c.577+36G>A
NM_001408485.1:c.577+36G>A
NM_001408489.1:c.577+36G>A
NM_001408490.1:c.574+36G>A
NM_001408491.1:c.574+36G>A
NM_001408492.1:c.577+36G>A
NM_001408493.1:c.574+36G>A
NM_001408494.1:c.548-3676G>A
NM_001408495.1:c.545-3676G>A
NM_001408496.1:c.523+36G>A
NM_001408497.1:c.523+36G>A
NM_001408498.1:c.523+36G>A
NM_001408499.1:c.523+36G>A
NM_001408500.1:c.523+36G>A
NM_001408501.1:c.523+36G>A
NM_001408502.1:c.454+36G>A
NM_001408503.1:c.520+36G>A
NM_001408504.1:c.520+36G>A
NM_001408505.1:c.520+36G>A
NM_001408506.1:c.460+1138G>A
NM_001408507.1:c.460+1138G>A
NM_001408508.1:c.451+36G>A
NM_001408509.1:c.451+36G>A
NM_001408510.1:c.406+36G>A
NM_001408511.1:c.404-3676G>A
NM_001408512.1:c.283+36G>A
NM_001408513.1:c.577+36G>A
NM_001408514.1:c.577+36G>A
NM_007294.4:c.823G>AMANE SELECT
NM_007297.4:c.682G>A
NM_007298.4:c.787+36G>A
NM_007299.4:c.787+36G>A
NM_007300.4:c.823G>A
NP_001394500.1:p.Gly204Ser
NP_001394510.1:p.Gly275Ser
NP_001394511.1:p.Gly275Ser
NP_001394512.1:p.Gly275Ser
NP_001394514.1:p.Gly275Ser
NP_001394516.1:p.Gly274Ser
NP_001394519.1:p.Gly274Ser
NP_001394520.1:p.Gly274Ser
NP_001394522.1:p.Gly275Ser
NP_001394523.1:p.Gly275Ser
NP_001394525.1:p.Gly275Ser
NP_001394526.1:p.Gly275Ser
NP_001394527.1:p.Gly275Ser
NP_001394531.1:p.Gly275Ser
NP_001394532.1:p.Gly275Ser
NP_001394534.1:p.Gly275Ser
NP_001394539.1:p.Gly274Ser
NP_001394540.1:p.Gly274Ser
NP_001394541.1:p.Gly274Ser
NP_001394542.1:p.Gly274Ser
NP_001394543.1:p.Gly274Ser
NP_001394544.1:p.Gly274Ser
NP_001394545.1:p.Gly275Ser
NP_001394546.1:p.Gly275Ser
NP_001394547.1:p.Gly275Ser
NP_001394548.1:p.Gly275Ser
NP_001394549.1:p.Gly275Ser
NP_001394550.1:p.Gly275Ser
NP_001394551.1:p.Gly275Ser
NP_001394552.1:p.Gly275Ser
NP_001394553.1:p.Gly275Ser
NP_001394554.1:p.Gly275Ser
NP_001394555.1:p.Gly275Ser
NP_001394556.1:p.Gly274Ser
NP_001394557.1:p.Gly274Ser
NP_001394558.1:p.Gly274Ser
NP_001394559.1:p.Gly274Ser
NP_001394560.1:p.Gly274Ser
NP_001394561.1:p.Gly274Ser
NP_001394562.1:p.Gly274Ser
NP_001394563.1:p.Gly274Ser
NP_001394564.1:p.Gly274Ser
NP_001394565.1:p.Gly274Ser
NP_001394566.1:p.Gly274Ser
NP_001394567.1:p.Gly274Ser
NP_001394568.1:p.Gly275Ser
NP_001394569.1:p.Gly275Ser
NP_001394570.1:p.Gly275Ser
NP_001394571.1:p.Gly275Ser
NP_001394573.1:p.Gly274Ser
NP_001394574.1:p.Gly274Ser
NP_001394575.1:p.Gly272Ser
NP_001394576.1:p.Gly272Ser
NP_001394577.1:p.Gly234Ser
NP_001394578.1:p.Gly233Ser
NP_001394581.1:p.Gly275Ser
NP_001394582.1:p.Gly249Ser
NP_001394583.1:p.Gly249Ser
NP_001394584.1:p.Gly249Ser
NP_001394585.1:p.Gly249Ser
NP_001394586.1:p.Gly249Ser
NP_001394587.1:p.Gly249Ser
NP_001394588.1:p.Gly248Ser
NP_001394589.1:p.Gly248Ser
NP_001394590.1:p.Gly248Ser
NP_001394591.1:p.Gly248Ser
NP_001394592.1:p.Gly249Ser
NP_001394593.1:p.Gly234Ser
NP_001394594.1:p.Gly234Ser
NP_001394595.1:p.Gly234Ser
NP_001394596.1:p.Gly234Ser
NP_001394597.1:p.Gly234Ser
NP_001394598.1:p.Gly234Ser
NP_001394599.1:p.Gly233Ser
NP_001394600.1:p.Gly233Ser
NP_001394601.1:p.Gly233Ser
NP_001394602.1:p.Gly233Ser
NP_001394603.1:p.Gly234Ser
NP_001394604.1:p.Gly234Ser
NP_001394605.1:p.Gly234Ser
NP_001394606.1:p.Gly234Ser
NP_001394607.1:p.Gly234Ser
NP_001394608.1:p.Gly234Ser
NP_001394609.1:p.Gly234Ser
NP_001394610.1:p.Gly234Ser
NP_001394611.1:p.Gly234Ser
NP_001394612.1:p.Gly234Ser
NP_001394613.1:p.Gly275Ser
NP_001394614.1:p.Gly233Ser
NP_001394615.1:p.Gly233Ser
NP_001394616.1:p.Gly233Ser
NP_001394617.1:p.Gly233Ser
NP_001394618.1:p.Gly233Ser
NP_001394619.1:p.Gly233Ser
NP_001394620.1:p.Gly233Ser
NP_001394621.1:p.Gly228Ser
NP_001394623.1:p.Gly228Ser
NP_001394624.1:p.Gly228Ser
NP_001394625.1:p.Gly228Ser
NP_001394626.1:p.Gly228Ser
NP_001394627.1:p.Gly228Ser
NP_001394653.1:p.Gly228Ser
NP_001394654.1:p.Gly228Ser
NP_001394655.1:p.Gly228Ser
NP_001394656.1:p.Gly228Ser
NP_001394657.1:p.Gly228Ser
NP_001394658.1:p.Gly228Ser
NP_001394659.1:p.Gly228Ser
NP_001394660.1:p.Gly228Ser
NP_001394661.1:p.Gly228Ser
NP_001394662.1:p.Gly228Ser
NP_001394663.1:p.Gly228Ser
NP_001394664.1:p.Gly228Ser
NP_001394665.1:p.Gly228Ser
NP_001394666.1:p.Gly228Ser
NP_001394667.1:p.Gly228Ser
NP_001394668.1:p.Gly228Ser
NP_001394669.1:p.Gly227Ser
NP_001394670.1:p.Gly227Ser
NP_001394671.1:p.Gly227Ser
NP_001394672.1:p.Gly227Ser
NP_001394673.1:p.Gly227Ser
NP_001394674.1:p.Gly227Ser
NP_001394675.1:p.Gly227Ser
NP_001394676.1:p.Gly227Ser
NP_001394677.1:p.Gly227Ser
NP_001394678.1:p.Gly227Ser
NP_001394679.1:p.Gly228Ser
NP_001394680.1:p.Gly228Ser
NP_001394681.1:p.Gly228Ser
NP_001394767.1:p.Gly227Ser
NP_001394768.1:p.Gly227Ser
NP_001394770.1:p.Gly227Ser
NP_001394771.1:p.Gly227Ser
NP_001394772.1:p.Gly227Ser
NP_001394773.1:p.Gly227Ser
NP_001394774.1:p.Gly227Ser
NP_001394775.1:p.Gly227Ser
NP_001394776.1:p.Gly227Ser
NP_001394777.1:p.Gly227Ser
NP_001394778.1:p.Gly227Ser
NP_001394779.1:p.Gly228Ser
NP_001394780.1:p.Gly228Ser
NP_001394781.1:p.Gly228Ser
NP_001394782.1:p.Gly204Ser
NP_001394783.1:p.Gly275Ser
NP_001394787.1:p.Gly275Ser
NP_001394788.1:p.Gly275Ser
NP_001394789.1:p.Gly274Ser
NP_001394790.1:p.Gly274Ser
NP_001394791.1:p.Gly208Ser
NP_001394792.1:p.Gly234Ser
NP_001394803.1:p.Gly207Ser
NP_001394804.1:p.Gly207Ser
NP_001394808.1:p.Gly205Ser
NP_001394810.1:p.Gly205Ser
NP_001394811.1:p.Gly205Ser
NP_001394813.1:p.Gly205Ser
NP_001394814.1:p.Gly205Ser
NP_001394815.1:p.Gly205Ser
NP_001394816.1:p.Gly205Ser
NP_001394818.1:p.Gly205Ser
NP_001394823.1:p.Gly204Ser
NP_001394824.1:p.Gly204Ser
NP_001394825.1:p.Gly204Ser
NP_001394826.1:p.Gly204Ser
NP_001394827.1:p.Gly204Ser
NP_001394828.1:p.Gly204Ser
NP_001394829.1:p.Gly205Ser
NP_001394831.1:p.Gly205Ser
NP_001394833.1:p.Gly205Ser
NP_001394835.1:p.Gly205Ser
NP_001394836.1:p.Gly205Ser
NP_001394837.1:p.Gly205Ser
NP_001394838.1:p.Gly205Ser
NP_001394839.1:p.Gly205Ser
NP_001394844.1:p.Gly204Ser
NP_001394845.1:p.Gly204Ser
NP_001394846.1:p.Gly204Ser
NP_001394847.1:p.Gly204Ser
NP_001394848.1:p.Gly234Ser
NP_001394849.1:p.Gly187Ser
NP_001394850.1:p.Gly187Ser
NP_001394851.1:p.Gly187Ser
NP_001394852.1:p.Gly187Ser
NP_001394853.1:p.Gly187Ser
NP_001394854.1:p.Gly187Ser
NP_001394855.1:p.Gly187Ser
NP_001394856.1:p.Gly187Ser
NP_001394857.1:p.Gly187Ser
NP_001394858.1:p.Gly187Ser
NP_001394859.1:p.Gly186Ser
NP_001394860.1:p.Gly186Ser
NP_001394861.1:p.Gly186Ser
NP_001394862.1:p.Gly187Ser
NP_001394863.1:p.Gly186Ser
NP_001394864.1:p.Gly187Ser
NP_001394865.1:p.Gly186Ser
NP_001394866.1:p.Gly234Ser
NP_001394867.1:p.Gly234Ser
NP_001394868.1:p.Gly234Ser
NP_001394869.1:p.Gly233Ser
NP_001394870.1:p.Gly233Ser
NP_001394871.1:p.Gly228Ser
NP_001394872.1:p.Gly227Ser
NP_001394873.1:p.Gly228Ser
NP_001394874.1:p.Gly228Ser
NP_001394875.1:p.Gly164Ser
NP_001394876.1:p.Gly164Ser
NP_001394877.1:p.Gly164Ser
NP_001394878.1:p.Gly164Ser
NP_001394879.1:p.Gly164Ser
NP_001394880.1:p.Gly164Ser
NP_001394881.1:p.Gly164Ser
NP_001394882.1:p.Gly164Ser
NP_001394883.1:p.Gly163Ser
NP_001394884.1:p.Gly163Ser
NP_001394885.1:p.Gly163Ser
NP_001394886.1:p.Gly164Ser
NP_001394887.1:p.Gly163Ser
NP_001394888.1:p.Gly148Ser
NP_001394889.1:p.Gly148Ser
NP_001394891.1:p.Gly147Ser
NP_001394892.1:p.Gly148Ser
NP_001394893.1:p.Gly227Ser
NP_001394894.1:p.Gly107Ser
NP_009225.1:p.Gly275Ser
NP_009225.1:p.Gly275Ser
NP_009228.2:p.Gly228Ser
NP_009231.2:p.Gly275Ser
LRG_292t1:c.823G>A
LRG_292:g.123276G>A
LRG_292p1:p.Gly275Ser
NC_000017.10:g.41246725C>T
NM_007294.3:c.823G>A
NR_027676.1:n.959G>A
P38398:p.Gly275Ser
U14680.1:n.942G>A
p.G275S

Protein change:

G107S

Links:

UniProtKB: P38398#VAR_019944; dbSNP: rs8176153

NCBI 1000 Genomes Browser:

rs8176153

Molecular consequence:

NM_001407966.1:c.-66G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407967.1:c.-66G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407968.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+33G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3676G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3676G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1138G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3676G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+36G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.559G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.700G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.439G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.679G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.319G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.823G>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
SCV000210090	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Jan 12, 2018)	germline	clinical testing	Citation Link,
SCV000586872	Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 18, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000699314	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Apr 9, 2022)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 16518693, 15385441, 22752604, 22486713, 17719744, 17987791, 25348012, 26727311, 25823446, 28222693, 19499547 Citation Link,
SCV002068963	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 17, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002551041	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans.

Burk-Herrick A, Scally M, Amrine-Madsen H, Stanhope MJ, Springer MS.

Mamm Genome. 2006 Mar;17(3):257-70. Epub 2006 Mar 3.

PubMed [citation]

PMID:: 16518693

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J, Larionov V.

Hum Mol Genet. 2004 Nov 15;13(22):2737-51. Epub 2004 Sep 22.

PubMed [citation]

PMID:: 15385441

See all PubMed Citations (12)

Details of each submission

From GeneDx, SCV000210090.8

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

Description

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

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

From Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586872.1

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

#	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, SCV000699314.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

Variant summary: BRCA1 c.823G>A (p.Gly275Ser) 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 0.00056 in 250402 control chromosomes, predominantly at a frequency of 0.0046 within the South Asian subpopulation in the gnomAD database, including 2 homozygotes. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 4.6 fold of the estimated maximal expected allele frequency for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome phenotype (0.001), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. c.823G>A has been reported in the literature in individuals affected with Breast and Ovarian Cancer, primarily in individuals of South Asian ethnicity (example, Vinodkumar_2007, Ahmad_2012, Juwle_2012, Sirisena_2016). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At-least one co-occurrence with another pathogenic variant has been reported in the UMD database (BRCA2 c.2612C>A, p.Ser871X), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Starita_2015). Multiple clinical diagnostic laboratories and an expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 with a predominant consensus as benign/likely benign. Based on the evidence outlined above, the variant was 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

From Genetic Services Laboratory, University of Chicago, SCV002068963.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002551041.4

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

#	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: Nov 24, 2024

ClinVar

Relating variation to medicine