NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jun 14, 2023
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:: RCV000510033.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser)]

NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser)

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.3092T>G (p.Ile1031Ser)

HGVS:

NC_000017.11:g.43092439A>C
NG_005905.2:g.125545T>G
NM_001407571.1:c.2879T>G
NM_001407581.1:c.3092T>G
NM_001407582.1:c.3092T>G
NM_001407583.1:c.3092T>G
NM_001407585.1:c.3092T>G
NM_001407587.1:c.3089T>G
NM_001407590.1:c.3089T>G
NM_001407591.1:c.3089T>G
NM_001407593.1:c.3092T>G
NM_001407594.1:c.3092T>G
NM_001407596.1:c.3092T>G
NM_001407597.1:c.3092T>G
NM_001407598.1:c.3092T>G
NM_001407602.1:c.3092T>G
NM_001407603.1:c.3092T>G
NM_001407605.1:c.3092T>G
NM_001407610.1:c.3089T>G
NM_001407611.1:c.3089T>G
NM_001407612.1:c.3089T>G
NM_001407613.1:c.3089T>G
NM_001407614.1:c.3089T>G
NM_001407615.1:c.3089T>G
NM_001407616.1:c.3092T>G
NM_001407617.1:c.3092T>G
NM_001407618.1:c.3092T>G
NM_001407619.1:c.3092T>G
NM_001407620.1:c.3092T>G
NM_001407621.1:c.3092T>G
NM_001407622.1:c.3092T>G
NM_001407623.1:c.3092T>G
NM_001407624.1:c.3092T>G
NM_001407625.1:c.3092T>G
NM_001407626.1:c.3092T>G
NM_001407627.1:c.3089T>G
NM_001407628.1:c.3089T>G
NM_001407629.1:c.3089T>G
NM_001407630.1:c.3089T>G
NM_001407631.1:c.3089T>G
NM_001407632.1:c.3089T>G
NM_001407633.1:c.3089T>G
NM_001407634.1:c.3089T>G
NM_001407635.1:c.3089T>G
NM_001407636.1:c.3089T>G
NM_001407637.1:c.3089T>G
NM_001407638.1:c.3089T>G
NM_001407639.1:c.3092T>G
NM_001407640.1:c.3092T>G
NM_001407641.1:c.3092T>G
NM_001407642.1:c.3092T>G
NM_001407644.1:c.3089T>G
NM_001407645.1:c.3089T>G
NM_001407646.1:c.3083T>G
NM_001407647.1:c.3083T>G
NM_001407648.1:c.2969T>G
NM_001407649.1:c.2966T>G
NM_001407652.1:c.3092T>G
NM_001407653.1:c.3014T>G
NM_001407654.1:c.3014T>G
NM_001407655.1:c.3014T>G
NM_001407656.1:c.3014T>G
NM_001407657.1:c.3014T>G
NM_001407658.1:c.3014T>G
NM_001407659.1:c.3011T>G
NM_001407660.1:c.3011T>G
NM_001407661.1:c.3011T>G
NM_001407662.1:c.3011T>G
NM_001407663.1:c.3014T>G
NM_001407664.1:c.2969T>G
NM_001407665.1:c.2969T>G
NM_001407666.1:c.2969T>G
NM_001407667.1:c.2969T>G
NM_001407668.1:c.2969T>G
NM_001407669.1:c.2969T>G
NM_001407670.1:c.2966T>G
NM_001407671.1:c.2966T>G
NM_001407672.1:c.2966T>G
NM_001407673.1:c.2966T>G
NM_001407674.1:c.2969T>G
NM_001407675.1:c.2969T>G
NM_001407676.1:c.2969T>G
NM_001407677.1:c.2969T>G
NM_001407678.1:c.2969T>G
NM_001407679.1:c.2969T>G
NM_001407680.1:c.2969T>G
NM_001407681.1:c.2969T>G
NM_001407682.1:c.2969T>G
NM_001407683.1:c.2969T>G
NM_001407684.1:c.3092T>G
NM_001407685.1:c.2966T>G
NM_001407686.1:c.2966T>G
NM_001407687.1:c.2966T>G
NM_001407688.1:c.2966T>G
NM_001407689.1:c.2966T>G
NM_001407690.1:c.2966T>G
NM_001407691.1:c.2966T>G
NM_001407692.1:c.2951T>G
NM_001407694.1:c.2951T>G
NM_001407695.1:c.2951T>G
NM_001407696.1:c.2951T>G
NM_001407697.1:c.2951T>G
NM_001407698.1:c.2951T>G
NM_001407724.1:c.2951T>G
NM_001407725.1:c.2951T>G
NM_001407726.1:c.2951T>G
NM_001407727.1:c.2951T>G
NM_001407728.1:c.2951T>G
NM_001407729.1:c.2951T>G
NM_001407730.1:c.2951T>G
NM_001407731.1:c.2951T>G
NM_001407732.1:c.2951T>G
NM_001407733.1:c.2951T>G
NM_001407734.1:c.2951T>G
NM_001407735.1:c.2951T>G
NM_001407736.1:c.2951T>G
NM_001407737.1:c.2951T>G
NM_001407738.1:c.2951T>G
NM_001407739.1:c.2951T>G
NM_001407740.1:c.2948T>G
NM_001407741.1:c.2948T>G
NM_001407742.1:c.2948T>G
NM_001407743.1:c.2948T>G
NM_001407744.1:c.2948T>G
NM_001407745.1:c.2948T>G
NM_001407746.1:c.2948T>G
NM_001407747.1:c.2948T>G
NM_001407748.1:c.2948T>G
NM_001407749.1:c.2948T>G
NM_001407750.1:c.2951T>G
NM_001407751.1:c.2951T>G
NM_001407752.1:c.2951T>G
NM_001407838.1:c.2948T>G
NM_001407839.1:c.2948T>G
NM_001407841.1:c.2948T>G
NM_001407842.1:c.2948T>G
NM_001407843.1:c.2948T>G
NM_001407844.1:c.2948T>G
NM_001407845.1:c.2948T>G
NM_001407846.1:c.2948T>G
NM_001407847.1:c.2948T>G
NM_001407848.1:c.2948T>G
NM_001407849.1:c.2948T>G
NM_001407850.1:c.2951T>G
NM_001407851.1:c.2951T>G
NM_001407852.1:c.2951T>G
NM_001407853.1:c.2879T>G
NM_001407854.1:c.3092T>G
NM_001407858.1:c.3092T>G
NM_001407859.1:c.3092T>G
NM_001407860.1:c.3089T>G
NM_001407861.1:c.3089T>G
NM_001407862.1:c.2891T>G
NM_001407863.1:c.2969T>G
NM_001407874.1:c.2888T>G
NM_001407875.1:c.2888T>G
NM_001407879.1:c.2882T>G
NM_001407881.1:c.2882T>G
NM_001407882.1:c.2882T>G
NM_001407884.1:c.2882T>G
NM_001407885.1:c.2882T>G
NM_001407886.1:c.2882T>G
NM_001407887.1:c.2882T>G
NM_001407889.1:c.2882T>G
NM_001407894.1:c.2879T>G
NM_001407895.1:c.2879T>G
NM_001407896.1:c.2879T>G
NM_001407897.1:c.2879T>G
NM_001407898.1:c.2879T>G
NM_001407899.1:c.2879T>G
NM_001407900.1:c.2882T>G
NM_001407902.1:c.2882T>G
NM_001407904.1:c.2882T>G
NM_001407906.1:c.2882T>G
NM_001407907.1:c.2882T>G
NM_001407908.1:c.2882T>G
NM_001407909.1:c.2882T>G
NM_001407910.1:c.2882T>G
NM_001407915.1:c.2879T>G
NM_001407916.1:c.2879T>G
NM_001407917.1:c.2879T>G
NM_001407918.1:c.2879T>G
NM_001407919.1:c.2969T>G
NM_001407920.1:c.2828T>G
NM_001407921.1:c.2828T>G
NM_001407922.1:c.2828T>G
NM_001407923.1:c.2828T>G
NM_001407924.1:c.2828T>G
NM_001407925.1:c.2828T>G
NM_001407926.1:c.2828T>G
NM_001407927.1:c.2828T>G
NM_001407928.1:c.2828T>G
NM_001407929.1:c.2828T>G
NM_001407930.1:c.2825T>G
NM_001407931.1:c.2825T>G
NM_001407932.1:c.2825T>G
NM_001407933.1:c.2828T>G
NM_001407934.1:c.2825T>G
NM_001407935.1:c.2828T>G
NM_001407936.1:c.2825T>G
NM_001407937.1:c.2969T>G
NM_001407938.1:c.2969T>G
NM_001407939.1:c.2969T>G
NM_001407940.1:c.2966T>G
NM_001407941.1:c.2966T>G
NM_001407942.1:c.2951T>G
NM_001407943.1:c.2948T>G
NM_001407944.1:c.2951T>G
NM_001407945.1:c.2951T>G
NM_001407946.1:c.2759T>G
NM_001407947.1:c.2759T>G
NM_001407948.1:c.2759T>G
NM_001407949.1:c.2759T>G
NM_001407950.1:c.2759T>G
NM_001407951.1:c.2759T>G
NM_001407952.1:c.2759T>G
NM_001407953.1:c.2759T>G
NM_001407954.1:c.2756T>G
NM_001407955.1:c.2756T>G
NM_001407956.1:c.2756T>G
NM_001407957.1:c.2759T>G
NM_001407958.1:c.2756T>G
NM_001407959.1:c.2711T>G
NM_001407960.1:c.2711T>G
NM_001407962.1:c.2708T>G
NM_001407963.1:c.2711T>G
NM_001407964.1:c.2948T>G
NM_001407965.1:c.2588T>G
NM_001407966.1:c.2204T>G
NM_001407967.1:c.2204T>G
NM_001407968.1:c.788-300T>G
NM_001407969.1:c.788-300T>G
NM_001407970.1:c.788-1407T>G
NM_001407971.1:c.788-1407T>G
NM_001407972.1:c.785-1407T>G
NM_001407973.1:c.788-1407T>G
NM_001407974.1:c.788-1407T>G
NM_001407975.1:c.788-1407T>G
NM_001407976.1:c.788-1407T>G
NM_001407977.1:c.788-1407T>G
NM_001407978.1:c.788-1407T>G
NM_001407979.1:c.788-1407T>G
NM_001407980.1:c.788-1407T>G
NM_001407981.1:c.788-1407T>G
NM_001407982.1:c.788-1407T>G
NM_001407983.1:c.788-1407T>G
NM_001407984.1:c.785-1407T>G
NM_001407985.1:c.785-1407T>G
NM_001407986.1:c.785-1407T>G
NM_001407990.1:c.788-1407T>G
NM_001407991.1:c.785-1407T>G
NM_001407992.1:c.785-1407T>G
NM_001407993.1:c.788-1407T>G
NM_001408392.1:c.785-1407T>G
NM_001408396.1:c.785-1407T>G
NM_001408397.1:c.785-1407T>G
NM_001408398.1:c.785-1407T>G
NM_001408399.1:c.785-1407T>G
NM_001408400.1:c.785-1407T>G
NM_001408401.1:c.785-1407T>G
NM_001408402.1:c.785-1407T>G
NM_001408403.1:c.788-1407T>G
NM_001408404.1:c.788-1407T>G
NM_001408406.1:c.791-1416T>G
NM_001408407.1:c.785-1407T>G
NM_001408408.1:c.779-1407T>G
NM_001408409.1:c.710-1407T>G
NM_001408410.1:c.647-1407T>G
NM_001408411.1:c.710-1407T>G
NM_001408412.1:c.710-1407T>G
NM_001408413.1:c.707-1407T>G
NM_001408414.1:c.710-1407T>G
NM_001408415.1:c.710-1407T>G
NM_001408416.1:c.707-1407T>G
NM_001408418.1:c.671-1407T>G
NM_001408419.1:c.671-1407T>G
NM_001408420.1:c.671-1407T>G
NM_001408421.1:c.668-1407T>G
NM_001408422.1:c.671-1407T>G
NM_001408423.1:c.671-1407T>G
NM_001408424.1:c.668-1407T>G
NM_001408425.1:c.665-1407T>G
NM_001408426.1:c.665-1407T>G
NM_001408427.1:c.665-1407T>G
NM_001408428.1:c.665-1407T>G
NM_001408429.1:c.665-1407T>G
NM_001408430.1:c.665-1407T>G
NM_001408431.1:c.668-1407T>G
NM_001408432.1:c.662-1407T>G
NM_001408433.1:c.662-1407T>G
NM_001408434.1:c.662-1407T>G
NM_001408435.1:c.662-1407T>G
NM_001408436.1:c.665-1407T>G
NM_001408437.1:c.665-1407T>G
NM_001408438.1:c.665-1407T>G
NM_001408439.1:c.665-1407T>G
NM_001408440.1:c.665-1407T>G
NM_001408441.1:c.665-1407T>G
NM_001408442.1:c.665-1407T>G
NM_001408443.1:c.665-1407T>G
NM_001408444.1:c.665-1407T>G
NM_001408445.1:c.662-1407T>G
NM_001408446.1:c.662-1407T>G
NM_001408447.1:c.662-1407T>G
NM_001408448.1:c.662-1407T>G
NM_001408450.1:c.662-1407T>G
NM_001408451.1:c.653-1407T>G
NM_001408452.1:c.647-1407T>G
NM_001408453.1:c.647-1407T>G
NM_001408454.1:c.647-1407T>G
NM_001408455.1:c.647-1407T>G
NM_001408456.1:c.647-1407T>G
NM_001408457.1:c.647-1407T>G
NM_001408458.1:c.647-1407T>G
NM_001408459.1:c.647-1407T>G
NM_001408460.1:c.647-1407T>G
NM_001408461.1:c.647-1407T>G
NM_001408462.1:c.644-1407T>G
NM_001408463.1:c.644-1407T>G
NM_001408464.1:c.644-1407T>G
NM_001408465.1:c.644-1407T>G
NM_001408466.1:c.647-1407T>G
NM_001408467.1:c.647-1407T>G
NM_001408468.1:c.644-1407T>G
NM_001408469.1:c.647-1407T>G
NM_001408470.1:c.644-1407T>G
NM_001408472.1:c.788-1407T>G
NM_001408473.1:c.785-1407T>G
NM_001408474.1:c.587-1407T>G
NM_001408475.1:c.584-1407T>G
NM_001408476.1:c.587-1407T>G
NM_001408478.1:c.578-1407T>G
NM_001408479.1:c.578-1407T>G
NM_001408480.1:c.578-1407T>G
NM_001408481.1:c.578-1407T>G
NM_001408482.1:c.578-1407T>G
NM_001408483.1:c.578-1407T>G
NM_001408484.1:c.578-1407T>G
NM_001408485.1:c.578-1407T>G
NM_001408489.1:c.578-1407T>G
NM_001408490.1:c.575-1407T>G
NM_001408491.1:c.575-1407T>G
NM_001408492.1:c.578-1407T>G
NM_001408493.1:c.575-1407T>G
NM_001408494.1:c.548-1407T>G
NM_001408495.1:c.545-1407T>G
NM_001408496.1:c.524-1407T>G
NM_001408497.1:c.524-1407T>G
NM_001408498.1:c.524-1407T>G
NM_001408499.1:c.524-1407T>G
NM_001408500.1:c.524-1407T>G
NM_001408501.1:c.524-1407T>G
NM_001408502.1:c.455-1407T>G
NM_001408503.1:c.521-1407T>G
NM_001408504.1:c.521-1407T>G
NM_001408505.1:c.521-1407T>G
NM_001408506.1:c.461-1407T>G
NM_001408507.1:c.461-1407T>G
NM_001408508.1:c.452-1407T>G
NM_001408509.1:c.452-1407T>G
NM_001408510.1:c.407-1407T>G
NM_001408511.1:c.404-1407T>G
NM_001408512.1:c.284-1407T>G
NM_001408513.1:c.578-1407T>G
NM_001408514.1:c.578-1407T>G
NM_007294.4:c.3092T>GMANE SELECT
NM_007297.4:c.2951T>G
NM_007298.4:c.788-1407T>G
NM_007299.4:c.788-1407T>G
NM_007300.4:c.3092T>G
NP_001394500.1:p.Ile960Ser
NP_001394510.1:p.Ile1031Ser
NP_001394511.1:p.Ile1031Ser
NP_001394512.1:p.Ile1031Ser
NP_001394514.1:p.Ile1031Ser
NP_001394516.1:p.Ile1030Ser
NP_001394519.1:p.Ile1030Ser
NP_001394520.1:p.Ile1030Ser
NP_001394522.1:p.Ile1031Ser
NP_001394523.1:p.Ile1031Ser
NP_001394525.1:p.Ile1031Ser
NP_001394526.1:p.Ile1031Ser
NP_001394527.1:p.Ile1031Ser
NP_001394531.1:p.Ile1031Ser
NP_001394532.1:p.Ile1031Ser
NP_001394534.1:p.Ile1031Ser
NP_001394539.1:p.Ile1030Ser
NP_001394540.1:p.Ile1030Ser
NP_001394541.1:p.Ile1030Ser
NP_001394542.1:p.Ile1030Ser
NP_001394543.1:p.Ile1030Ser
NP_001394544.1:p.Ile1030Ser
NP_001394545.1:p.Ile1031Ser
NP_001394546.1:p.Ile1031Ser
NP_001394547.1:p.Ile1031Ser
NP_001394548.1:p.Ile1031Ser
NP_001394549.1:p.Ile1031Ser
NP_001394550.1:p.Ile1031Ser
NP_001394551.1:p.Ile1031Ser
NP_001394552.1:p.Ile1031Ser
NP_001394553.1:p.Ile1031Ser
NP_001394554.1:p.Ile1031Ser
NP_001394555.1:p.Ile1031Ser
NP_001394556.1:p.Ile1030Ser
NP_001394557.1:p.Ile1030Ser
NP_001394558.1:p.Ile1030Ser
NP_001394559.1:p.Ile1030Ser
NP_001394560.1:p.Ile1030Ser
NP_001394561.1:p.Ile1030Ser
NP_001394562.1:p.Ile1030Ser
NP_001394563.1:p.Ile1030Ser
NP_001394564.1:p.Ile1030Ser
NP_001394565.1:p.Ile1030Ser
NP_001394566.1:p.Ile1030Ser
NP_001394567.1:p.Ile1030Ser
NP_001394568.1:p.Ile1031Ser
NP_001394569.1:p.Ile1031Ser
NP_001394570.1:p.Ile1031Ser
NP_001394571.1:p.Ile1031Ser
NP_001394573.1:p.Ile1030Ser
NP_001394574.1:p.Ile1030Ser
NP_001394575.1:p.Ile1028Ser
NP_001394576.1:p.Ile1028Ser
NP_001394577.1:p.Ile990Ser
NP_001394578.1:p.Ile989Ser
NP_001394581.1:p.Ile1031Ser
NP_001394582.1:p.Ile1005Ser
NP_001394583.1:p.Ile1005Ser
NP_001394584.1:p.Ile1005Ser
NP_001394585.1:p.Ile1005Ser
NP_001394586.1:p.Ile1005Ser
NP_001394587.1:p.Ile1005Ser
NP_001394588.1:p.Ile1004Ser
NP_001394589.1:p.Ile1004Ser
NP_001394590.1:p.Ile1004Ser
NP_001394591.1:p.Ile1004Ser
NP_001394592.1:p.Ile1005Ser
NP_001394593.1:p.Ile990Ser
NP_001394594.1:p.Ile990Ser
NP_001394595.1:p.Ile990Ser
NP_001394596.1:p.Ile990Ser
NP_001394597.1:p.Ile990Ser
NP_001394598.1:p.Ile990Ser
NP_001394599.1:p.Ile989Ser
NP_001394600.1:p.Ile989Ser
NP_001394601.1:p.Ile989Ser
NP_001394602.1:p.Ile989Ser
NP_001394603.1:p.Ile990Ser
NP_001394604.1:p.Ile990Ser
NP_001394605.1:p.Ile990Ser
NP_001394606.1:p.Ile990Ser
NP_001394607.1:p.Ile990Ser
NP_001394608.1:p.Ile990Ser
NP_001394609.1:p.Ile990Ser
NP_001394610.1:p.Ile990Ser
NP_001394611.1:p.Ile990Ser
NP_001394612.1:p.Ile990Ser
NP_001394613.1:p.Ile1031Ser
NP_001394614.1:p.Ile989Ser
NP_001394615.1:p.Ile989Ser
NP_001394616.1:p.Ile989Ser
NP_001394617.1:p.Ile989Ser
NP_001394618.1:p.Ile989Ser
NP_001394619.1:p.Ile989Ser
NP_001394620.1:p.Ile989Ser
NP_001394621.1:p.Ile984Ser
NP_001394623.1:p.Ile984Ser
NP_001394624.1:p.Ile984Ser
NP_001394625.1:p.Ile984Ser
NP_001394626.1:p.Ile984Ser
NP_001394627.1:p.Ile984Ser
NP_001394653.1:p.Ile984Ser
NP_001394654.1:p.Ile984Ser
NP_001394655.1:p.Ile984Ser
NP_001394656.1:p.Ile984Ser
NP_001394657.1:p.Ile984Ser
NP_001394658.1:p.Ile984Ser
NP_001394659.1:p.Ile984Ser
NP_001394660.1:p.Ile984Ser
NP_001394661.1:p.Ile984Ser
NP_001394662.1:p.Ile984Ser
NP_001394663.1:p.Ile984Ser
NP_001394664.1:p.Ile984Ser
NP_001394665.1:p.Ile984Ser
NP_001394666.1:p.Ile984Ser
NP_001394667.1:p.Ile984Ser
NP_001394668.1:p.Ile984Ser
NP_001394669.1:p.Ile983Ser
NP_001394670.1:p.Ile983Ser
NP_001394671.1:p.Ile983Ser
NP_001394672.1:p.Ile983Ser
NP_001394673.1:p.Ile983Ser
NP_001394674.1:p.Ile983Ser
NP_001394675.1:p.Ile983Ser
NP_001394676.1:p.Ile983Ser
NP_001394677.1:p.Ile983Ser
NP_001394678.1:p.Ile983Ser
NP_001394679.1:p.Ile984Ser
NP_001394680.1:p.Ile984Ser
NP_001394681.1:p.Ile984Ser
NP_001394767.1:p.Ile983Ser
NP_001394768.1:p.Ile983Ser
NP_001394770.1:p.Ile983Ser
NP_001394771.1:p.Ile983Ser
NP_001394772.1:p.Ile983Ser
NP_001394773.1:p.Ile983Ser
NP_001394774.1:p.Ile983Ser
NP_001394775.1:p.Ile983Ser
NP_001394776.1:p.Ile983Ser
NP_001394777.1:p.Ile983Ser
NP_001394778.1:p.Ile983Ser
NP_001394779.1:p.Ile984Ser
NP_001394780.1:p.Ile984Ser
NP_001394781.1:p.Ile984Ser
NP_001394782.1:p.Ile960Ser
NP_001394783.1:p.Ile1031Ser
NP_001394787.1:p.Ile1031Ser
NP_001394788.1:p.Ile1031Ser
NP_001394789.1:p.Ile1030Ser
NP_001394790.1:p.Ile1030Ser
NP_001394791.1:p.Ile964Ser
NP_001394792.1:p.Ile990Ser
NP_001394803.1:p.Ile963Ser
NP_001394804.1:p.Ile963Ser
NP_001394808.1:p.Ile961Ser
NP_001394810.1:p.Ile961Ser
NP_001394811.1:p.Ile961Ser
NP_001394813.1:p.Ile961Ser
NP_001394814.1:p.Ile961Ser
NP_001394815.1:p.Ile961Ser
NP_001394816.1:p.Ile961Ser
NP_001394818.1:p.Ile961Ser
NP_001394823.1:p.Ile960Ser
NP_001394824.1:p.Ile960Ser
NP_001394825.1:p.Ile960Ser
NP_001394826.1:p.Ile960Ser
NP_001394827.1:p.Ile960Ser
NP_001394828.1:p.Ile960Ser
NP_001394829.1:p.Ile961Ser
NP_001394831.1:p.Ile961Ser
NP_001394833.1:p.Ile961Ser
NP_001394835.1:p.Ile961Ser
NP_001394836.1:p.Ile961Ser
NP_001394837.1:p.Ile961Ser
NP_001394838.1:p.Ile961Ser
NP_001394839.1:p.Ile961Ser
NP_001394844.1:p.Ile960Ser
NP_001394845.1:p.Ile960Ser
NP_001394846.1:p.Ile960Ser
NP_001394847.1:p.Ile960Ser
NP_001394848.1:p.Ile990Ser
NP_001394849.1:p.Ile943Ser
NP_001394850.1:p.Ile943Ser
NP_001394851.1:p.Ile943Ser
NP_001394852.1:p.Ile943Ser
NP_001394853.1:p.Ile943Ser
NP_001394854.1:p.Ile943Ser
NP_001394855.1:p.Ile943Ser
NP_001394856.1:p.Ile943Ser
NP_001394857.1:p.Ile943Ser
NP_001394858.1:p.Ile943Ser
NP_001394859.1:p.Ile942Ser
NP_001394860.1:p.Ile942Ser
NP_001394861.1:p.Ile942Ser
NP_001394862.1:p.Ile943Ser
NP_001394863.1:p.Ile942Ser
NP_001394864.1:p.Ile943Ser
NP_001394865.1:p.Ile942Ser
NP_001394866.1:p.Ile990Ser
NP_001394867.1:p.Ile990Ser
NP_001394868.1:p.Ile990Ser
NP_001394869.1:p.Ile989Ser
NP_001394870.1:p.Ile989Ser
NP_001394871.1:p.Ile984Ser
NP_001394872.1:p.Ile983Ser
NP_001394873.1:p.Ile984Ser
NP_001394874.1:p.Ile984Ser
NP_001394875.1:p.Ile920Ser
NP_001394876.1:p.Ile920Ser
NP_001394877.1:p.Ile920Ser
NP_001394878.1:p.Ile920Ser
NP_001394879.1:p.Ile920Ser
NP_001394880.1:p.Ile920Ser
NP_001394881.1:p.Ile920Ser
NP_001394882.1:p.Ile920Ser
NP_001394883.1:p.Ile919Ser
NP_001394884.1:p.Ile919Ser
NP_001394885.1:p.Ile919Ser
NP_001394886.1:p.Ile920Ser
NP_001394887.1:p.Ile919Ser
NP_001394888.1:p.Ile904Ser
NP_001394889.1:p.Ile904Ser
NP_001394891.1:p.Ile903Ser
NP_001394892.1:p.Ile904Ser
NP_001394893.1:p.Ile983Ser
NP_001394894.1:p.Ile863Ser
NP_001394895.1:p.Ile735Ser
NP_001394896.1:p.Ile735Ser
NP_009225.1:p.Ile1031Ser
NP_009225.1:p.Ile1031Ser
NP_009228.2:p.Ile984Ser
NP_009231.2:p.Ile1031Ser
LRG_292t1:c.3092T>G
LRG_292:g.125545T>G
LRG_292p1:p.Ile1031Ser
NC_000017.10:g.41244456A>C
NM_007294.3:c.3092T>G
NR_027676.1:n.3228T>G

Protein change:

I1004S

Links:

dbSNP: rs863224758

NCBI 1000 Genomes Browser:

rs863224758

Molecular consequence:

NM_001407968.1:c.788-300T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-300T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1416T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1407T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3083T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3083T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3011T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3011T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3011T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3011T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3014T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3089T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2891T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2888T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2888T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2879T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2825T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2825T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2825T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2825T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2828T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2825T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2969T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2966T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2756T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2756T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2756T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2759T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2756T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2711T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2711T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2708T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2711T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2948T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2588T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2204T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2204T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2951T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3092T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Cited in PMC for PubMed (Select 23875086) (4)
PMC
uncharacterized protein LOC101218033 [Cucumis sativus]
uncharacterized protein LOC101218033 [Cucumis sativus]
gi|449434448|ref|XP_004135008.1|

Protein
eukaryotic translation initiation factor 3 subunit I-like [Cucurbita pepo subsp....
eukaryotic translation initiation factor 3 subunit I-like [Cucurbita pepo subsp. pepo]
gi|1333115429|ref|XP_023531917.1|

Protein
40S ribosomal protein S2-3-like [Cucumis melo]
40S ribosomal protein S2-3-like [Cucumis melo]
gi|659085013|ref|XP_008443195.1|

Protein
Isyna1 inositol-3-phosphate synthase 1 [Rattus norvegicus]
Isyna1 inositol-3-phosphate synthase 1 [Rattus norvegicus]
Gene ID:290651

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000607862	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 14, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27376475, 32772980 Citation Link,
SCV002052192	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003849133	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000607862

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 14, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV002052192

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 18, 2021)

germline

clinical testing

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

SCV003849133

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

PubMed (1)
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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, curation

Citations

PubMed

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B.

J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.

PubMed [citation]

PMID:: 27376475

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Steen JA, Theys D, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Stembalska A, Pesz K, Kitsera N, Siekierzynska A, Southey MC, Myszka A.

Genet Res (Camb). 2020 Aug 10;102:e6. doi: 10.1017/S0016672320000075.

PubMed [citation]

PMID:: 32772980
PMCID:: PMC7443769

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000607862.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.I1031S variant (also known as c.3092T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 3092. The isoleucine at codon 1031 is replaced by serine, an amino acid with dissimilar properties. This alteration was reported in a cohort of 402 hereditary breast and ovarian cancer patients (Schenkel LC et al. J Mol Diagn, 2016 09;18:657-667). This alteration was also identified in 1 of 426 women from Poland and Ukraine with a personal history of breast and/or ovarian cancer (Nguyen-Dumont T et al. Genet Res (Camb), 2020 Aug;102:e6). This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 Color Diagnostics, LLC DBA Color Health, SCV002052192.1

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

Description

This missense variant replaces isoleucine with serine at codon 1031 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in an individual affected with ovarian cancer and a suspected hereditary breast and ovarian cancer family (PMID: 27376475, 32772980) and in a breast cancer case-control meta-analysis in one unaffected individual and absent in cases (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_005977). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003849133.1

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

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	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 8, 2024

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