NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jun 24, 2022
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:: RCV000589951.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)]

NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)

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.3012G>A (p.Glu1004=)

HGVS:

NC_000017.11:g.43092519C>T
NG_005905.2:g.125465G>A
NM_001407571.1:c.2799G>A
NM_001407581.1:c.3012G>A
NM_001407582.1:c.3012G>A
NM_001407583.1:c.3012G>A
NM_001407585.1:c.3012G>A
NM_001407587.1:c.3009G>A
NM_001407590.1:c.3009G>A
NM_001407591.1:c.3009G>A
NM_001407593.1:c.3012G>A
NM_001407594.1:c.3012G>A
NM_001407596.1:c.3012G>A
NM_001407597.1:c.3012G>A
NM_001407598.1:c.3012G>A
NM_001407602.1:c.3012G>A
NM_001407603.1:c.3012G>A
NM_001407605.1:c.3012G>A
NM_001407610.1:c.3009G>A
NM_001407611.1:c.3009G>A
NM_001407612.1:c.3009G>A
NM_001407613.1:c.3009G>A
NM_001407614.1:c.3009G>A
NM_001407615.1:c.3009G>A
NM_001407616.1:c.3012G>A
NM_001407617.1:c.3012G>A
NM_001407618.1:c.3012G>A
NM_001407619.1:c.3012G>A
NM_001407620.1:c.3012G>A
NM_001407621.1:c.3012G>A
NM_001407622.1:c.3012G>A
NM_001407623.1:c.3012G>A
NM_001407624.1:c.3012G>A
NM_001407625.1:c.3012G>A
NM_001407626.1:c.3012G>A
NM_001407627.1:c.3009G>A
NM_001407628.1:c.3009G>A
NM_001407629.1:c.3009G>A
NM_001407630.1:c.3009G>A
NM_001407631.1:c.3009G>A
NM_001407632.1:c.3009G>A
NM_001407633.1:c.3009G>A
NM_001407634.1:c.3009G>A
NM_001407635.1:c.3009G>A
NM_001407636.1:c.3009G>A
NM_001407637.1:c.3009G>A
NM_001407638.1:c.3009G>A
NM_001407639.1:c.3012G>A
NM_001407640.1:c.3012G>A
NM_001407641.1:c.3012G>A
NM_001407642.1:c.3012G>A
NM_001407644.1:c.3009G>A
NM_001407645.1:c.3009G>A
NM_001407646.1:c.3003G>A
NM_001407647.1:c.3003G>A
NM_001407648.1:c.2889G>A
NM_001407649.1:c.2886G>A
NM_001407652.1:c.3012G>A
NM_001407653.1:c.2934G>A
NM_001407654.1:c.2934G>A
NM_001407655.1:c.2934G>A
NM_001407656.1:c.2934G>A
NM_001407657.1:c.2934G>A
NM_001407658.1:c.2934G>A
NM_001407659.1:c.2931G>A
NM_001407660.1:c.2931G>A
NM_001407661.1:c.2931G>A
NM_001407662.1:c.2931G>A
NM_001407663.1:c.2934G>A
NM_001407664.1:c.2889G>A
NM_001407665.1:c.2889G>A
NM_001407666.1:c.2889G>A
NM_001407667.1:c.2889G>A
NM_001407668.1:c.2889G>A
NM_001407669.1:c.2889G>A
NM_001407670.1:c.2886G>A
NM_001407671.1:c.2886G>A
NM_001407672.1:c.2886G>A
NM_001407673.1:c.2886G>A
NM_001407674.1:c.2889G>A
NM_001407675.1:c.2889G>A
NM_001407676.1:c.2889G>A
NM_001407677.1:c.2889G>A
NM_001407678.1:c.2889G>A
NM_001407679.1:c.2889G>A
NM_001407680.1:c.2889G>A
NM_001407681.1:c.2889G>A
NM_001407682.1:c.2889G>A
NM_001407683.1:c.2889G>A
NM_001407684.1:c.3012G>A
NM_001407685.1:c.2886G>A
NM_001407686.1:c.2886G>A
NM_001407687.1:c.2886G>A
NM_001407688.1:c.2886G>A
NM_001407689.1:c.2886G>A
NM_001407690.1:c.2886G>A
NM_001407691.1:c.2886G>A
NM_001407692.1:c.2871G>A
NM_001407694.1:c.2871G>A
NM_001407695.1:c.2871G>A
NM_001407696.1:c.2871G>A
NM_001407697.1:c.2871G>A
NM_001407698.1:c.2871G>A
NM_001407724.1:c.2871G>A
NM_001407725.1:c.2871G>A
NM_001407726.1:c.2871G>A
NM_001407727.1:c.2871G>A
NM_001407728.1:c.2871G>A
NM_001407729.1:c.2871G>A
NM_001407730.1:c.2871G>A
NM_001407731.1:c.2871G>A
NM_001407732.1:c.2871G>A
NM_001407733.1:c.2871G>A
NM_001407734.1:c.2871G>A
NM_001407735.1:c.2871G>A
NM_001407736.1:c.2871G>A
NM_001407737.1:c.2871G>A
NM_001407738.1:c.2871G>A
NM_001407739.1:c.2871G>A
NM_001407740.1:c.2868G>A
NM_001407741.1:c.2868G>A
NM_001407742.1:c.2868G>A
NM_001407743.1:c.2868G>A
NM_001407744.1:c.2868G>A
NM_001407745.1:c.2868G>A
NM_001407746.1:c.2868G>A
NM_001407747.1:c.2868G>A
NM_001407748.1:c.2868G>A
NM_001407749.1:c.2868G>A
NM_001407750.1:c.2871G>A
NM_001407751.1:c.2871G>A
NM_001407752.1:c.2871G>A
NM_001407838.1:c.2868G>A
NM_001407839.1:c.2868G>A
NM_001407841.1:c.2868G>A
NM_001407842.1:c.2868G>A
NM_001407843.1:c.2868G>A
NM_001407844.1:c.2868G>A
NM_001407845.1:c.2868G>A
NM_001407846.1:c.2868G>A
NM_001407847.1:c.2868G>A
NM_001407848.1:c.2868G>A
NM_001407849.1:c.2868G>A
NM_001407850.1:c.2871G>A
NM_001407851.1:c.2871G>A
NM_001407852.1:c.2871G>A
NM_001407853.1:c.2799G>A
NM_001407854.1:c.3012G>A
NM_001407858.1:c.3012G>A
NM_001407859.1:c.3012G>A
NM_001407860.1:c.3009G>A
NM_001407861.1:c.3009G>A
NM_001407862.1:c.2811G>A
NM_001407863.1:c.2889G>A
NM_001407874.1:c.2808G>A
NM_001407875.1:c.2808G>A
NM_001407879.1:c.2802G>A
NM_001407881.1:c.2802G>A
NM_001407882.1:c.2802G>A
NM_001407884.1:c.2802G>A
NM_001407885.1:c.2802G>A
NM_001407886.1:c.2802G>A
NM_001407887.1:c.2802G>A
NM_001407889.1:c.2802G>A
NM_001407894.1:c.2799G>A
NM_001407895.1:c.2799G>A
NM_001407896.1:c.2799G>A
NM_001407897.1:c.2799G>A
NM_001407898.1:c.2799G>A
NM_001407899.1:c.2799G>A
NM_001407900.1:c.2802G>A
NM_001407902.1:c.2802G>A
NM_001407904.1:c.2802G>A
NM_001407906.1:c.2802G>A
NM_001407907.1:c.2802G>A
NM_001407908.1:c.2802G>A
NM_001407909.1:c.2802G>A
NM_001407910.1:c.2802G>A
NM_001407915.1:c.2799G>A
NM_001407916.1:c.2799G>A
NM_001407917.1:c.2799G>A
NM_001407918.1:c.2799G>A
NM_001407919.1:c.2889G>A
NM_001407920.1:c.2748G>A
NM_001407921.1:c.2748G>A
NM_001407922.1:c.2748G>A
NM_001407923.1:c.2748G>A
NM_001407924.1:c.2748G>A
NM_001407925.1:c.2748G>A
NM_001407926.1:c.2748G>A
NM_001407927.1:c.2748G>A
NM_001407928.1:c.2748G>A
NM_001407929.1:c.2748G>A
NM_001407930.1:c.2745G>A
NM_001407931.1:c.2745G>A
NM_001407932.1:c.2745G>A
NM_001407933.1:c.2748G>A
NM_001407934.1:c.2745G>A
NM_001407935.1:c.2748G>A
NM_001407936.1:c.2745G>A
NM_001407937.1:c.2889G>A
NM_001407938.1:c.2889G>A
NM_001407939.1:c.2889G>A
NM_001407940.1:c.2886G>A
NM_001407941.1:c.2886G>A
NM_001407942.1:c.2871G>A
NM_001407943.1:c.2868G>A
NM_001407944.1:c.2871G>A
NM_001407945.1:c.2871G>A
NM_001407946.1:c.2679G>A
NM_001407947.1:c.2679G>A
NM_001407948.1:c.2679G>A
NM_001407949.1:c.2679G>A
NM_001407950.1:c.2679G>A
NM_001407951.1:c.2679G>A
NM_001407952.1:c.2679G>A
NM_001407953.1:c.2679G>A
NM_001407954.1:c.2676G>A
NM_001407955.1:c.2676G>A
NM_001407956.1:c.2676G>A
NM_001407957.1:c.2679G>A
NM_001407958.1:c.2676G>A
NM_001407959.1:c.2631G>A
NM_001407960.1:c.2631G>A
NM_001407962.1:c.2628G>A
NM_001407963.1:c.2631G>A
NM_001407964.1:c.2868G>A
NM_001407965.1:c.2508G>A
NM_001407966.1:c.2124G>A
NM_001407967.1:c.2124G>A
NM_001407968.1:c.788-380G>A
NM_001407969.1:c.788-380G>A
NM_001407970.1:c.788-1487G>A
NM_001407971.1:c.788-1487G>A
NM_001407972.1:c.785-1487G>A
NM_001407973.1:c.788-1487G>A
NM_001407974.1:c.788-1487G>A
NM_001407975.1:c.788-1487G>A
NM_001407976.1:c.788-1487G>A
NM_001407977.1:c.788-1487G>A
NM_001407978.1:c.788-1487G>A
NM_001407979.1:c.788-1487G>A
NM_001407980.1:c.788-1487G>A
NM_001407981.1:c.788-1487G>A
NM_001407982.1:c.788-1487G>A
NM_001407983.1:c.788-1487G>A
NM_001407984.1:c.785-1487G>A
NM_001407985.1:c.785-1487G>A
NM_001407986.1:c.785-1487G>A
NM_001407990.1:c.788-1487G>A
NM_001407991.1:c.785-1487G>A
NM_001407992.1:c.785-1487G>A
NM_001407993.1:c.788-1487G>A
NM_001408392.1:c.785-1487G>A
NM_001408396.1:c.785-1487G>A
NM_001408397.1:c.785-1487G>A
NM_001408398.1:c.785-1487G>A
NM_001408399.1:c.785-1487G>A
NM_001408400.1:c.785-1487G>A
NM_001408401.1:c.785-1487G>A
NM_001408402.1:c.785-1487G>A
NM_001408403.1:c.788-1487G>A
NM_001408404.1:c.788-1487G>A
NM_001408406.1:c.791-1496G>A
NM_001408407.1:c.785-1487G>A
NM_001408408.1:c.779-1487G>A
NM_001408409.1:c.710-1487G>A
NM_001408410.1:c.647-1487G>A
NM_001408411.1:c.710-1487G>A
NM_001408412.1:c.710-1487G>A
NM_001408413.1:c.707-1487G>A
NM_001408414.1:c.710-1487G>A
NM_001408415.1:c.710-1487G>A
NM_001408416.1:c.707-1487G>A
NM_001408418.1:c.671-1487G>A
NM_001408419.1:c.671-1487G>A
NM_001408420.1:c.671-1487G>A
NM_001408421.1:c.668-1487G>A
NM_001408422.1:c.671-1487G>A
NM_001408423.1:c.671-1487G>A
NM_001408424.1:c.668-1487G>A
NM_001408425.1:c.665-1487G>A
NM_001408426.1:c.665-1487G>A
NM_001408427.1:c.665-1487G>A
NM_001408428.1:c.665-1487G>A
NM_001408429.1:c.665-1487G>A
NM_001408430.1:c.665-1487G>A
NM_001408431.1:c.668-1487G>A
NM_001408432.1:c.662-1487G>A
NM_001408433.1:c.662-1487G>A
NM_001408434.1:c.662-1487G>A
NM_001408435.1:c.662-1487G>A
NM_001408436.1:c.665-1487G>A
NM_001408437.1:c.665-1487G>A
NM_001408438.1:c.665-1487G>A
NM_001408439.1:c.665-1487G>A
NM_001408440.1:c.665-1487G>A
NM_001408441.1:c.665-1487G>A
NM_001408442.1:c.665-1487G>A
NM_001408443.1:c.665-1487G>A
NM_001408444.1:c.665-1487G>A
NM_001408445.1:c.662-1487G>A
NM_001408446.1:c.662-1487G>A
NM_001408447.1:c.662-1487G>A
NM_001408448.1:c.662-1487G>A
NM_001408450.1:c.662-1487G>A
NM_001408451.1:c.653-1487G>A
NM_001408452.1:c.647-1487G>A
NM_001408453.1:c.647-1487G>A
NM_001408454.1:c.647-1487G>A
NM_001408455.1:c.647-1487G>A
NM_001408456.1:c.647-1487G>A
NM_001408457.1:c.647-1487G>A
NM_001408458.1:c.647-1487G>A
NM_001408459.1:c.647-1487G>A
NM_001408460.1:c.647-1487G>A
NM_001408461.1:c.647-1487G>A
NM_001408462.1:c.644-1487G>A
NM_001408463.1:c.644-1487G>A
NM_001408464.1:c.644-1487G>A
NM_001408465.1:c.644-1487G>A
NM_001408466.1:c.647-1487G>A
NM_001408467.1:c.647-1487G>A
NM_001408468.1:c.644-1487G>A
NM_001408469.1:c.647-1487G>A
NM_001408470.1:c.644-1487G>A
NM_001408472.1:c.788-1487G>A
NM_001408473.1:c.785-1487G>A
NM_001408474.1:c.587-1487G>A
NM_001408475.1:c.584-1487G>A
NM_001408476.1:c.587-1487G>A
NM_001408478.1:c.578-1487G>A
NM_001408479.1:c.578-1487G>A
NM_001408480.1:c.578-1487G>A
NM_001408481.1:c.578-1487G>A
NM_001408482.1:c.578-1487G>A
NM_001408483.1:c.578-1487G>A
NM_001408484.1:c.578-1487G>A
NM_001408485.1:c.578-1487G>A
NM_001408489.1:c.578-1487G>A
NM_001408490.1:c.575-1487G>A
NM_001408491.1:c.575-1487G>A
NM_001408492.1:c.578-1487G>A
NM_001408493.1:c.575-1487G>A
NM_001408494.1:c.548-1487G>A
NM_001408495.1:c.545-1487G>A
NM_001408496.1:c.524-1487G>A
NM_001408497.1:c.524-1487G>A
NM_001408498.1:c.524-1487G>A
NM_001408499.1:c.524-1487G>A
NM_001408500.1:c.524-1487G>A
NM_001408501.1:c.524-1487G>A
NM_001408502.1:c.455-1487G>A
NM_001408503.1:c.521-1487G>A
NM_001408504.1:c.521-1487G>A
NM_001408505.1:c.521-1487G>A
NM_001408506.1:c.461-1487G>A
NM_001408507.1:c.461-1487G>A
NM_001408508.1:c.452-1487G>A
NM_001408509.1:c.452-1487G>A
NM_001408510.1:c.407-1487G>A
NM_001408511.1:c.404-1487G>A
NM_001408512.1:c.284-1487G>A
NM_001408513.1:c.578-1487G>A
NM_001408514.1:c.578-1487G>A
NM_007294.4:c.3012G>AMANE SELECT
NM_007297.4:c.2871G>A
NM_007298.4:c.788-1487G>A
NM_007299.4:c.788-1487G>A
NM_007300.4:c.3012G>A
NP_001394500.1:p.Glu933=
NP_001394510.1:p.Glu1004=
NP_001394511.1:p.Glu1004=
NP_001394512.1:p.Glu1004=
NP_001394514.1:p.Glu1004=
NP_001394516.1:p.Glu1003=
NP_001394519.1:p.Glu1003=
NP_001394520.1:p.Glu1003=
NP_001394522.1:p.Glu1004=
NP_001394523.1:p.Glu1004=
NP_001394525.1:p.Glu1004=
NP_001394526.1:p.Glu1004=
NP_001394527.1:p.Glu1004=
NP_001394531.1:p.Glu1004=
NP_001394532.1:p.Glu1004=
NP_001394534.1:p.Glu1004=
NP_001394539.1:p.Glu1003=
NP_001394540.1:p.Glu1003=
NP_001394541.1:p.Glu1003=
NP_001394542.1:p.Glu1003=
NP_001394543.1:p.Glu1003=
NP_001394544.1:p.Glu1003=
NP_001394545.1:p.Glu1004=
NP_001394546.1:p.Glu1004=
NP_001394547.1:p.Glu1004=
NP_001394548.1:p.Glu1004=
NP_001394549.1:p.Glu1004=
NP_001394550.1:p.Glu1004=
NP_001394551.1:p.Glu1004=
NP_001394552.1:p.Glu1004=
NP_001394553.1:p.Glu1004=
NP_001394554.1:p.Glu1004=
NP_001394555.1:p.Glu1004=
NP_001394556.1:p.Glu1003=
NP_001394557.1:p.Glu1003=
NP_001394558.1:p.Glu1003=
NP_001394559.1:p.Glu1003=
NP_001394560.1:p.Glu1003=
NP_001394561.1:p.Glu1003=
NP_001394562.1:p.Glu1003=
NP_001394563.1:p.Glu1003=
NP_001394564.1:p.Glu1003=
NP_001394565.1:p.Glu1003=
NP_001394566.1:p.Glu1003=
NP_001394567.1:p.Glu1003=
NP_001394568.1:p.Glu1004=
NP_001394569.1:p.Glu1004=
NP_001394570.1:p.Glu1004=
NP_001394571.1:p.Glu1004=
NP_001394573.1:p.Glu1003=
NP_001394574.1:p.Glu1003=
NP_001394575.1:p.Glu1001=
NP_001394576.1:p.Glu1001=
NP_001394577.1:p.Glu963=
NP_001394578.1:p.Glu962=
NP_001394581.1:p.Glu1004=
NP_001394582.1:p.Glu978=
NP_001394583.1:p.Glu978=
NP_001394584.1:p.Glu978=
NP_001394585.1:p.Glu978=
NP_001394586.1:p.Glu978=
NP_001394587.1:p.Glu978=
NP_001394588.1:p.Glu977=
NP_001394589.1:p.Glu977=
NP_001394590.1:p.Glu977=
NP_001394591.1:p.Glu977=
NP_001394592.1:p.Glu978=
NP_001394593.1:p.Glu963=
NP_001394594.1:p.Glu963=
NP_001394595.1:p.Glu963=
NP_001394596.1:p.Glu963=
NP_001394597.1:p.Glu963=
NP_001394598.1:p.Glu963=
NP_001394599.1:p.Glu962=
NP_001394600.1:p.Glu962=
NP_001394601.1:p.Glu962=
NP_001394602.1:p.Glu962=
NP_001394603.1:p.Glu963=
NP_001394604.1:p.Glu963=
NP_001394605.1:p.Glu963=
NP_001394606.1:p.Glu963=
NP_001394607.1:p.Glu963=
NP_001394608.1:p.Glu963=
NP_001394609.1:p.Glu963=
NP_001394610.1:p.Glu963=
NP_001394611.1:p.Glu963=
NP_001394612.1:p.Glu963=
NP_001394613.1:p.Glu1004=
NP_001394614.1:p.Glu962=
NP_001394615.1:p.Glu962=
NP_001394616.1:p.Glu962=
NP_001394617.1:p.Glu962=
NP_001394618.1:p.Glu962=
NP_001394619.1:p.Glu962=
NP_001394620.1:p.Glu962=
NP_001394621.1:p.Glu957=
NP_001394623.1:p.Glu957=
NP_001394624.1:p.Glu957=
NP_001394625.1:p.Glu957=
NP_001394626.1:p.Glu957=
NP_001394627.1:p.Glu957=
NP_001394653.1:p.Glu957=
NP_001394654.1:p.Glu957=
NP_001394655.1:p.Glu957=
NP_001394656.1:p.Glu957=
NP_001394657.1:p.Glu957=
NP_001394658.1:p.Glu957=
NP_001394659.1:p.Glu957=
NP_001394660.1:p.Glu957=
NP_001394661.1:p.Glu957=
NP_001394662.1:p.Glu957=
NP_001394663.1:p.Glu957=
NP_001394664.1:p.Glu957=
NP_001394665.1:p.Glu957=
NP_001394666.1:p.Glu957=
NP_001394667.1:p.Glu957=
NP_001394668.1:p.Glu957=
NP_001394669.1:p.Glu956=
NP_001394670.1:p.Glu956=
NP_001394671.1:p.Glu956=
NP_001394672.1:p.Glu956=
NP_001394673.1:p.Glu956=
NP_001394674.1:p.Glu956=
NP_001394675.1:p.Glu956=
NP_001394676.1:p.Glu956=
NP_001394677.1:p.Glu956=
NP_001394678.1:p.Glu956=
NP_001394679.1:p.Glu957=
NP_001394680.1:p.Glu957=
NP_001394681.1:p.Glu957=
NP_001394767.1:p.Glu956=
NP_001394768.1:p.Glu956=
NP_001394770.1:p.Glu956=
NP_001394771.1:p.Glu956=
NP_001394772.1:p.Glu956=
NP_001394773.1:p.Glu956=
NP_001394774.1:p.Glu956=
NP_001394775.1:p.Glu956=
NP_001394776.1:p.Glu956=
NP_001394777.1:p.Glu956=
NP_001394778.1:p.Glu956=
NP_001394779.1:p.Glu957=
NP_001394780.1:p.Glu957=
NP_001394781.1:p.Glu957=
NP_001394782.1:p.Glu933=
NP_001394783.1:p.Glu1004=
NP_001394787.1:p.Glu1004=
NP_001394788.1:p.Glu1004=
NP_001394789.1:p.Glu1003=
NP_001394790.1:p.Glu1003=
NP_001394791.1:p.Glu937=
NP_001394792.1:p.Glu963=
NP_001394803.1:p.Glu936=
NP_001394804.1:p.Glu936=
NP_001394808.1:p.Glu934=
NP_001394810.1:p.Glu934=
NP_001394811.1:p.Glu934=
NP_001394813.1:p.Glu934=
NP_001394814.1:p.Glu934=
NP_001394815.1:p.Glu934=
NP_001394816.1:p.Glu934=
NP_001394818.1:p.Glu934=
NP_001394823.1:p.Glu933=
NP_001394824.1:p.Glu933=
NP_001394825.1:p.Glu933=
NP_001394826.1:p.Glu933=
NP_001394827.1:p.Glu933=
NP_001394828.1:p.Glu933=
NP_001394829.1:p.Glu934=
NP_001394831.1:p.Glu934=
NP_001394833.1:p.Glu934=
NP_001394835.1:p.Glu934=
NP_001394836.1:p.Glu934=
NP_001394837.1:p.Glu934=
NP_001394838.1:p.Glu934=
NP_001394839.1:p.Glu934=
NP_001394844.1:p.Glu933=
NP_001394845.1:p.Glu933=
NP_001394846.1:p.Glu933=
NP_001394847.1:p.Glu933=
NP_001394848.1:p.Glu963=
NP_001394849.1:p.Glu916=
NP_001394850.1:p.Glu916=
NP_001394851.1:p.Glu916=
NP_001394852.1:p.Glu916=
NP_001394853.1:p.Glu916=
NP_001394854.1:p.Glu916=
NP_001394855.1:p.Glu916=
NP_001394856.1:p.Glu916=
NP_001394857.1:p.Glu916=
NP_001394858.1:p.Glu916=
NP_001394859.1:p.Glu915=
NP_001394860.1:p.Glu915=
NP_001394861.1:p.Glu915=
NP_001394862.1:p.Glu916=
NP_001394863.1:p.Glu915=
NP_001394864.1:p.Glu916=
NP_001394865.1:p.Glu915=
NP_001394866.1:p.Glu963=
NP_001394867.1:p.Glu963=
NP_001394868.1:p.Glu963=
NP_001394869.1:p.Glu962=
NP_001394870.1:p.Glu962=
NP_001394871.1:p.Glu957=
NP_001394872.1:p.Glu956=
NP_001394873.1:p.Glu957=
NP_001394874.1:p.Glu957=
NP_001394875.1:p.Glu893=
NP_001394876.1:p.Glu893=
NP_001394877.1:p.Glu893=
NP_001394878.1:p.Glu893=
NP_001394879.1:p.Glu893=
NP_001394880.1:p.Glu893=
NP_001394881.1:p.Glu893=
NP_001394882.1:p.Glu893=
NP_001394883.1:p.Glu892=
NP_001394884.1:p.Glu892=
NP_001394885.1:p.Glu892=
NP_001394886.1:p.Glu893=
NP_001394887.1:p.Glu892=
NP_001394888.1:p.Glu877=
NP_001394889.1:p.Glu877=
NP_001394891.1:p.Glu876=
NP_001394892.1:p.Glu877=
NP_001394893.1:p.Glu956=
NP_001394894.1:p.Glu836=
NP_001394895.1:p.Glu708=
NP_001394896.1:p.Glu708=
NP_009225.1:p.Glu1004=
NP_009225.1:p.Glu1004=
NP_009228.2:p.Glu957=
NP_009231.2:p.Glu1004=
LRG_292t1:c.3012G>A
LRG_292:g.125465G>A
LRG_292p1:p.Glu1004=
NC_000017.10:g.41244536C>T
NM_007294.3:c.3012G>A
NR_027676.2:n.3189G>A
p.E1004E

Links:

dbSNP: rs786201784

NCBI 1000 Genomes Browser:

rs786201784

Molecular consequence:

NM_001407968.1:c.788-380G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-380G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1496G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1487G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407581.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407582.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407583.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407585.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407587.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407590.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407591.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407593.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407594.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407596.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407597.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407598.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407602.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407603.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407605.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407610.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407611.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407612.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407613.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407614.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407615.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407616.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407617.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407618.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407619.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407620.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407621.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407622.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407623.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407624.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407625.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407626.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407627.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407628.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407629.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407630.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407631.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407632.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407633.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407634.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407635.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407636.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407637.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407638.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407639.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407640.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407641.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407642.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407644.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407645.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407646.1:c.3003G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407647.1:c.3003G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407648.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407649.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407652.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407653.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407654.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407655.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407656.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407657.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407658.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407659.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407660.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407661.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407662.1:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407663.1:c.2934G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407664.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407665.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407666.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407667.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407668.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407669.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407670.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407671.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407672.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407673.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407674.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407675.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407676.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407677.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407678.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407679.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407680.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407681.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407682.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407683.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407684.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407685.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407686.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407687.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407688.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407689.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407690.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407691.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407692.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407694.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407695.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407696.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407697.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407698.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407724.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407725.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407726.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407727.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407728.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407729.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407730.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407731.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407732.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407733.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407734.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407735.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407736.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407737.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407738.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407739.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407740.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407741.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407742.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407743.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407744.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407745.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407746.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407747.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407748.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407749.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407750.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407751.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407752.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407838.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407839.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407841.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407842.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407843.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407844.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407845.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407846.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407847.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407848.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407849.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407850.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407851.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407852.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407853.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407854.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407858.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407859.1:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407860.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407861.1:c.3009G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407862.1:c.2811G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407863.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407874.1:c.2808G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407875.1:c.2808G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407879.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407881.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407882.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407884.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407885.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407886.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407887.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407889.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407894.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407895.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407896.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407897.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407898.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407899.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407900.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407902.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407904.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407906.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407907.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407908.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407909.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407910.1:c.2802G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407915.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407916.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407917.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407918.1:c.2799G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407919.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407920.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407921.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407922.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407923.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407924.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407925.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407926.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407927.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407928.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407929.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407930.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407931.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407932.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407933.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407934.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407935.1:c.2748G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407936.1:c.2745G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407937.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407938.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407939.1:c.2889G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407940.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407941.1:c.2886G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407942.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407943.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407944.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407945.1:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407946.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407947.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407948.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407949.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407950.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407951.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407952.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407953.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407954.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407955.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407956.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407957.1:c.2679G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407958.1:c.2676G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407959.1:c.2631G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407960.1:c.2631G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407962.1:c.2628G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407963.1:c.2631G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407964.1:c.2868G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407965.1:c.2508G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407966.1:c.2124G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001407967.1:c.2124G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007294.4:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007297.4:c.2871G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007300.4:c.3012G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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acyl-CoA dehydrogenase family protein [Archaeoglobus sulfaticallidus]
acyl-CoA dehydrogenase family protein [Archaeoglobus sulfaticallidus]
gi|505403650|ref|WP_015590752.1|

Protein
PREDICTED: Capsella rubella beta-1,3-galactosyltransferase 7 (LOC17894797), tran...
PREDICTED: Capsella rubella beta-1,3-galactosyltransferase 7 (LOC17894797), transcript variant X1, mRNA
gi|1338510408|ref|XM_023787666.1|

Nucleotide
PREDICTED: Momordica charantia transcription factor bHLH121 (LOC111005421), mRNA
PREDICTED: Momordica charantia transcription factor bHLH121 (LOC111005421), mRNA
gi|1229760126|ref|XM_022276904.1|

Nucleotide
beta-1,6-galactosyltransferase GALT29A [Momordica charantia]
beta-1,6-galactosyltransferase GALT29A [Momordica charantia]
gi|1229798540|ref|XP_022153013.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224998	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jan 29, 2015)	germline	clinical testing	Citation Link,
SCV000321425	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 4, 2016)	germline	clinical testing	Citation Link,
SCV000887655	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jun 24, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224998

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jan 29, 2015)

germline

clinical testing

Citation Link,

SCV000321425

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 4, 2016)

germline

clinical testing

Citation Link,

SCV000887655

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Jun 24, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224998.5

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

#	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		1	not provided	not provided	not provided

From GeneDx, SCV000321425.8

#	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 denoted BRCA1 c.3012G>A at the DNA level. This variant is silent at the coding level, preserving a Glutamic Acid at codon 1004. Using alternate nomenclature, this variant would be defined as BRCA1 3131G>A. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 c.3012G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 3012, is conserved in mammals. Based on currently available information, it is unclear whether BRCA1 c.3012G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000887655.3

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine