NM_007294.4(BRCA1):c.3025T>A (p.Ser1009Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003158914.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3025T>A (p.Ser1009Thr)]

NM_007294.4(BRCA1):c.3025T>A (p.Ser1009Thr)

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.3025T>A (p.Ser1009Thr)

HGVS:

NC_000017.11:g.43092506A>T
NG_005905.2:g.125478T>A
NM_001407571.1:c.2812T>A
NM_001407581.1:c.3025T>A
NM_001407582.1:c.3025T>A
NM_001407583.1:c.3025T>A
NM_001407585.1:c.3025T>A
NM_001407587.1:c.3022T>A
NM_001407590.1:c.3022T>A
NM_001407591.1:c.3022T>A
NM_001407593.1:c.3025T>A
NM_001407594.1:c.3025T>A
NM_001407596.1:c.3025T>A
NM_001407597.1:c.3025T>A
NM_001407598.1:c.3025T>A
NM_001407602.1:c.3025T>A
NM_001407603.1:c.3025T>A
NM_001407605.1:c.3025T>A
NM_001407610.1:c.3022T>A
NM_001407611.1:c.3022T>A
NM_001407612.1:c.3022T>A
NM_001407613.1:c.3022T>A
NM_001407614.1:c.3022T>A
NM_001407615.1:c.3022T>A
NM_001407616.1:c.3025T>A
NM_001407617.1:c.3025T>A
NM_001407618.1:c.3025T>A
NM_001407619.1:c.3025T>A
NM_001407620.1:c.3025T>A
NM_001407621.1:c.3025T>A
NM_001407622.1:c.3025T>A
NM_001407623.1:c.3025T>A
NM_001407624.1:c.3025T>A
NM_001407625.1:c.3025T>A
NM_001407626.1:c.3025T>A
NM_001407627.1:c.3022T>A
NM_001407628.1:c.3022T>A
NM_001407629.1:c.3022T>A
NM_001407630.1:c.3022T>A
NM_001407631.1:c.3022T>A
NM_001407632.1:c.3022T>A
NM_001407633.1:c.3022T>A
NM_001407634.1:c.3022T>A
NM_001407635.1:c.3022T>A
NM_001407636.1:c.3022T>A
NM_001407637.1:c.3022T>A
NM_001407638.1:c.3022T>A
NM_001407639.1:c.3025T>A
NM_001407640.1:c.3025T>A
NM_001407641.1:c.3025T>A
NM_001407642.1:c.3025T>A
NM_001407644.1:c.3022T>A
NM_001407645.1:c.3022T>A
NM_001407646.1:c.3016T>A
NM_001407647.1:c.3016T>A
NM_001407648.1:c.2902T>A
NM_001407649.1:c.2899T>A
NM_001407652.1:c.3025T>A
NM_001407653.1:c.2947T>A
NM_001407654.1:c.2947T>A
NM_001407655.1:c.2947T>A
NM_001407656.1:c.2947T>A
NM_001407657.1:c.2947T>A
NM_001407658.1:c.2947T>A
NM_001407659.1:c.2944T>A
NM_001407660.1:c.2944T>A
NM_001407661.1:c.2944T>A
NM_001407662.1:c.2944T>A
NM_001407663.1:c.2947T>A
NM_001407664.1:c.2902T>A
NM_001407665.1:c.2902T>A
NM_001407666.1:c.2902T>A
NM_001407667.1:c.2902T>A
NM_001407668.1:c.2902T>A
NM_001407669.1:c.2902T>A
NM_001407670.1:c.2899T>A
NM_001407671.1:c.2899T>A
NM_001407672.1:c.2899T>A
NM_001407673.1:c.2899T>A
NM_001407674.1:c.2902T>A
NM_001407675.1:c.2902T>A
NM_001407676.1:c.2902T>A
NM_001407677.1:c.2902T>A
NM_001407678.1:c.2902T>A
NM_001407679.1:c.2902T>A
NM_001407680.1:c.2902T>A
NM_001407681.1:c.2902T>A
NM_001407682.1:c.2902T>A
NM_001407683.1:c.2902T>A
NM_001407684.1:c.3025T>A
NM_001407685.1:c.2899T>A
NM_001407686.1:c.2899T>A
NM_001407687.1:c.2899T>A
NM_001407688.1:c.2899T>A
NM_001407689.1:c.2899T>A
NM_001407690.1:c.2899T>A
NM_001407691.1:c.2899T>A
NM_001407692.1:c.2884T>A
NM_001407694.1:c.2884T>A
NM_001407695.1:c.2884T>A
NM_001407696.1:c.2884T>A
NM_001407697.1:c.2884T>A
NM_001407698.1:c.2884T>A
NM_001407724.1:c.2884T>A
NM_001407725.1:c.2884T>A
NM_001407726.1:c.2884T>A
NM_001407727.1:c.2884T>A
NM_001407728.1:c.2884T>A
NM_001407729.1:c.2884T>A
NM_001407730.1:c.2884T>A
NM_001407731.1:c.2884T>A
NM_001407732.1:c.2884T>A
NM_001407733.1:c.2884T>A
NM_001407734.1:c.2884T>A
NM_001407735.1:c.2884T>A
NM_001407736.1:c.2884T>A
NM_001407737.1:c.2884T>A
NM_001407738.1:c.2884T>A
NM_001407739.1:c.2884T>A
NM_001407740.1:c.2881T>A
NM_001407741.1:c.2881T>A
NM_001407742.1:c.2881T>A
NM_001407743.1:c.2881T>A
NM_001407744.1:c.2881T>A
NM_001407745.1:c.2881T>A
NM_001407746.1:c.2881T>A
NM_001407747.1:c.2881T>A
NM_001407748.1:c.2881T>A
NM_001407749.1:c.2881T>A
NM_001407750.1:c.2884T>A
NM_001407751.1:c.2884T>A
NM_001407752.1:c.2884T>A
NM_001407838.1:c.2881T>A
NM_001407839.1:c.2881T>A
NM_001407841.1:c.2881T>A
NM_001407842.1:c.2881T>A
NM_001407843.1:c.2881T>A
NM_001407844.1:c.2881T>A
NM_001407845.1:c.2881T>A
NM_001407846.1:c.2881T>A
NM_001407847.1:c.2881T>A
NM_001407848.1:c.2881T>A
NM_001407849.1:c.2881T>A
NM_001407850.1:c.2884T>A
NM_001407851.1:c.2884T>A
NM_001407852.1:c.2884T>A
NM_001407853.1:c.2812T>A
NM_001407854.1:c.3025T>A
NM_001407858.1:c.3025T>A
NM_001407859.1:c.3025T>A
NM_001407860.1:c.3022T>A
NM_001407861.1:c.3022T>A
NM_001407862.1:c.2824T>A
NM_001407863.1:c.2902T>A
NM_001407874.1:c.2821T>A
NM_001407875.1:c.2821T>A
NM_001407879.1:c.2815T>A
NM_001407881.1:c.2815T>A
NM_001407882.1:c.2815T>A
NM_001407884.1:c.2815T>A
NM_001407885.1:c.2815T>A
NM_001407886.1:c.2815T>A
NM_001407887.1:c.2815T>A
NM_001407889.1:c.2815T>A
NM_001407894.1:c.2812T>A
NM_001407895.1:c.2812T>A
NM_001407896.1:c.2812T>A
NM_001407897.1:c.2812T>A
NM_001407898.1:c.2812T>A
NM_001407899.1:c.2812T>A
NM_001407900.1:c.2815T>A
NM_001407902.1:c.2815T>A
NM_001407904.1:c.2815T>A
NM_001407906.1:c.2815T>A
NM_001407907.1:c.2815T>A
NM_001407908.1:c.2815T>A
NM_001407909.1:c.2815T>A
NM_001407910.1:c.2815T>A
NM_001407915.1:c.2812T>A
NM_001407916.1:c.2812T>A
NM_001407917.1:c.2812T>A
NM_001407918.1:c.2812T>A
NM_001407919.1:c.2902T>A
NM_001407920.1:c.2761T>A
NM_001407921.1:c.2761T>A
NM_001407922.1:c.2761T>A
NM_001407923.1:c.2761T>A
NM_001407924.1:c.2761T>A
NM_001407925.1:c.2761T>A
NM_001407926.1:c.2761T>A
NM_001407927.1:c.2761T>A
NM_001407928.1:c.2761T>A
NM_001407929.1:c.2761T>A
NM_001407930.1:c.2758T>A
NM_001407931.1:c.2758T>A
NM_001407932.1:c.2758T>A
NM_001407933.1:c.2761T>A
NM_001407934.1:c.2758T>A
NM_001407935.1:c.2761T>A
NM_001407936.1:c.2758T>A
NM_001407937.1:c.2902T>A
NM_001407938.1:c.2902T>A
NM_001407939.1:c.2902T>A
NM_001407940.1:c.2899T>A
NM_001407941.1:c.2899T>A
NM_001407942.1:c.2884T>A
NM_001407943.1:c.2881T>A
NM_001407944.1:c.2884T>A
NM_001407945.1:c.2884T>A
NM_001407946.1:c.2692T>A
NM_001407947.1:c.2692T>A
NM_001407948.1:c.2692T>A
NM_001407949.1:c.2692T>A
NM_001407950.1:c.2692T>A
NM_001407951.1:c.2692T>A
NM_001407952.1:c.2692T>A
NM_001407953.1:c.2692T>A
NM_001407954.1:c.2689T>A
NM_001407955.1:c.2689T>A
NM_001407956.1:c.2689T>A
NM_001407957.1:c.2692T>A
NM_001407958.1:c.2689T>A
NM_001407959.1:c.2644T>A
NM_001407960.1:c.2644T>A
NM_001407962.1:c.2641T>A
NM_001407963.1:c.2644T>A
NM_001407964.1:c.2881T>A
NM_001407965.1:c.2521T>A
NM_001407966.1:c.2137T>A
NM_001407967.1:c.2137T>A
NM_001407968.1:c.788-367T>A
NM_001407969.1:c.788-367T>A
NM_001407970.1:c.788-1474T>A
NM_001407971.1:c.788-1474T>A
NM_001407972.1:c.785-1474T>A
NM_001407973.1:c.788-1474T>A
NM_001407974.1:c.788-1474T>A
NM_001407975.1:c.788-1474T>A
NM_001407976.1:c.788-1474T>A
NM_001407977.1:c.788-1474T>A
NM_001407978.1:c.788-1474T>A
NM_001407979.1:c.788-1474T>A
NM_001407980.1:c.788-1474T>A
NM_001407981.1:c.788-1474T>A
NM_001407982.1:c.788-1474T>A
NM_001407983.1:c.788-1474T>A
NM_001407984.1:c.785-1474T>A
NM_001407985.1:c.785-1474T>A
NM_001407986.1:c.785-1474T>A
NM_001407990.1:c.788-1474T>A
NM_001407991.1:c.785-1474T>A
NM_001407992.1:c.785-1474T>A
NM_001407993.1:c.788-1474T>A
NM_001408392.1:c.785-1474T>A
NM_001408396.1:c.785-1474T>A
NM_001408397.1:c.785-1474T>A
NM_001408398.1:c.785-1474T>A
NM_001408399.1:c.785-1474T>A
NM_001408400.1:c.785-1474T>A
NM_001408401.1:c.785-1474T>A
NM_001408402.1:c.785-1474T>A
NM_001408403.1:c.788-1474T>A
NM_001408404.1:c.788-1474T>A
NM_001408406.1:c.791-1483T>A
NM_001408407.1:c.785-1474T>A
NM_001408408.1:c.779-1474T>A
NM_001408409.1:c.710-1474T>A
NM_001408410.1:c.647-1474T>A
NM_001408411.1:c.710-1474T>A
NM_001408412.1:c.710-1474T>A
NM_001408413.1:c.707-1474T>A
NM_001408414.1:c.710-1474T>A
NM_001408415.1:c.710-1474T>A
NM_001408416.1:c.707-1474T>A
NM_001408418.1:c.671-1474T>A
NM_001408419.1:c.671-1474T>A
NM_001408420.1:c.671-1474T>A
NM_001408421.1:c.668-1474T>A
NM_001408422.1:c.671-1474T>A
NM_001408423.1:c.671-1474T>A
NM_001408424.1:c.668-1474T>A
NM_001408425.1:c.665-1474T>A
NM_001408426.1:c.665-1474T>A
NM_001408427.1:c.665-1474T>A
NM_001408428.1:c.665-1474T>A
NM_001408429.1:c.665-1474T>A
NM_001408430.1:c.665-1474T>A
NM_001408431.1:c.668-1474T>A
NM_001408432.1:c.662-1474T>A
NM_001408433.1:c.662-1474T>A
NM_001408434.1:c.662-1474T>A
NM_001408435.1:c.662-1474T>A
NM_001408436.1:c.665-1474T>A
NM_001408437.1:c.665-1474T>A
NM_001408438.1:c.665-1474T>A
NM_001408439.1:c.665-1474T>A
NM_001408440.1:c.665-1474T>A
NM_001408441.1:c.665-1474T>A
NM_001408442.1:c.665-1474T>A
NM_001408443.1:c.665-1474T>A
NM_001408444.1:c.665-1474T>A
NM_001408445.1:c.662-1474T>A
NM_001408446.1:c.662-1474T>A
NM_001408447.1:c.662-1474T>A
NM_001408448.1:c.662-1474T>A
NM_001408450.1:c.662-1474T>A
NM_001408451.1:c.653-1474T>A
NM_001408452.1:c.647-1474T>A
NM_001408453.1:c.647-1474T>A
NM_001408454.1:c.647-1474T>A
NM_001408455.1:c.647-1474T>A
NM_001408456.1:c.647-1474T>A
NM_001408457.1:c.647-1474T>A
NM_001408458.1:c.647-1474T>A
NM_001408459.1:c.647-1474T>A
NM_001408460.1:c.647-1474T>A
NM_001408461.1:c.647-1474T>A
NM_001408462.1:c.644-1474T>A
NM_001408463.1:c.644-1474T>A
NM_001408464.1:c.644-1474T>A
NM_001408465.1:c.644-1474T>A
NM_001408466.1:c.647-1474T>A
NM_001408467.1:c.647-1474T>A
NM_001408468.1:c.644-1474T>A
NM_001408469.1:c.647-1474T>A
NM_001408470.1:c.644-1474T>A
NM_001408472.1:c.788-1474T>A
NM_001408473.1:c.785-1474T>A
NM_001408474.1:c.587-1474T>A
NM_001408475.1:c.584-1474T>A
NM_001408476.1:c.587-1474T>A
NM_001408478.1:c.578-1474T>A
NM_001408479.1:c.578-1474T>A
NM_001408480.1:c.578-1474T>A
NM_001408481.1:c.578-1474T>A
NM_001408482.1:c.578-1474T>A
NM_001408483.1:c.578-1474T>A
NM_001408484.1:c.578-1474T>A
NM_001408485.1:c.578-1474T>A
NM_001408489.1:c.578-1474T>A
NM_001408490.1:c.575-1474T>A
NM_001408491.1:c.575-1474T>A
NM_001408492.1:c.578-1474T>A
NM_001408493.1:c.575-1474T>A
NM_001408494.1:c.548-1474T>A
NM_001408495.1:c.545-1474T>A
NM_001408496.1:c.524-1474T>A
NM_001408497.1:c.524-1474T>A
NM_001408498.1:c.524-1474T>A
NM_001408499.1:c.524-1474T>A
NM_001408500.1:c.524-1474T>A
NM_001408501.1:c.524-1474T>A
NM_001408502.1:c.455-1474T>A
NM_001408503.1:c.521-1474T>A
NM_001408504.1:c.521-1474T>A
NM_001408505.1:c.521-1474T>A
NM_001408506.1:c.461-1474T>A
NM_001408507.1:c.461-1474T>A
NM_001408508.1:c.452-1474T>A
NM_001408509.1:c.452-1474T>A
NM_001408510.1:c.407-1474T>A
NM_001408511.1:c.404-1474T>A
NM_001408512.1:c.284-1474T>A
NM_001408513.1:c.578-1474T>A
NM_001408514.1:c.578-1474T>A
NM_007294.4:c.3025T>AMANE SELECT
NM_007297.4:c.2884T>A
NM_007298.4:c.788-1474T>A
NM_007299.4:c.788-1474T>A
NM_007300.4:c.3025T>A
NP_001394500.1:p.Ser938Thr
NP_001394510.1:p.Ser1009Thr
NP_001394511.1:p.Ser1009Thr
NP_001394512.1:p.Ser1009Thr
NP_001394514.1:p.Ser1009Thr
NP_001394516.1:p.Ser1008Thr
NP_001394519.1:p.Ser1008Thr
NP_001394520.1:p.Ser1008Thr
NP_001394522.1:p.Ser1009Thr
NP_001394523.1:p.Ser1009Thr
NP_001394525.1:p.Ser1009Thr
NP_001394526.1:p.Ser1009Thr
NP_001394527.1:p.Ser1009Thr
NP_001394531.1:p.Ser1009Thr
NP_001394532.1:p.Ser1009Thr
NP_001394534.1:p.Ser1009Thr
NP_001394539.1:p.Ser1008Thr
NP_001394540.1:p.Ser1008Thr
NP_001394541.1:p.Ser1008Thr
NP_001394542.1:p.Ser1008Thr
NP_001394543.1:p.Ser1008Thr
NP_001394544.1:p.Ser1008Thr
NP_001394545.1:p.Ser1009Thr
NP_001394546.1:p.Ser1009Thr
NP_001394547.1:p.Ser1009Thr
NP_001394548.1:p.Ser1009Thr
NP_001394549.1:p.Ser1009Thr
NP_001394550.1:p.Ser1009Thr
NP_001394551.1:p.Ser1009Thr
NP_001394552.1:p.Ser1009Thr
NP_001394553.1:p.Ser1009Thr
NP_001394554.1:p.Ser1009Thr
NP_001394555.1:p.Ser1009Thr
NP_001394556.1:p.Ser1008Thr
NP_001394557.1:p.Ser1008Thr
NP_001394558.1:p.Ser1008Thr
NP_001394559.1:p.Ser1008Thr
NP_001394560.1:p.Ser1008Thr
NP_001394561.1:p.Ser1008Thr
NP_001394562.1:p.Ser1008Thr
NP_001394563.1:p.Ser1008Thr
NP_001394564.1:p.Ser1008Thr
NP_001394565.1:p.Ser1008Thr
NP_001394566.1:p.Ser1008Thr
NP_001394567.1:p.Ser1008Thr
NP_001394568.1:p.Ser1009Thr
NP_001394569.1:p.Ser1009Thr
NP_001394570.1:p.Ser1009Thr
NP_001394571.1:p.Ser1009Thr
NP_001394573.1:p.Ser1008Thr
NP_001394574.1:p.Ser1008Thr
NP_001394575.1:p.Ser1006Thr
NP_001394576.1:p.Ser1006Thr
NP_001394577.1:p.Ser968Thr
NP_001394578.1:p.Ser967Thr
NP_001394581.1:p.Ser1009Thr
NP_001394582.1:p.Ser983Thr
NP_001394583.1:p.Ser983Thr
NP_001394584.1:p.Ser983Thr
NP_001394585.1:p.Ser983Thr
NP_001394586.1:p.Ser983Thr
NP_001394587.1:p.Ser983Thr
NP_001394588.1:p.Ser982Thr
NP_001394589.1:p.Ser982Thr
NP_001394590.1:p.Ser982Thr
NP_001394591.1:p.Ser982Thr
NP_001394592.1:p.Ser983Thr
NP_001394593.1:p.Ser968Thr
NP_001394594.1:p.Ser968Thr
NP_001394595.1:p.Ser968Thr
NP_001394596.1:p.Ser968Thr
NP_001394597.1:p.Ser968Thr
NP_001394598.1:p.Ser968Thr
NP_001394599.1:p.Ser967Thr
NP_001394600.1:p.Ser967Thr
NP_001394601.1:p.Ser967Thr
NP_001394602.1:p.Ser967Thr
NP_001394603.1:p.Ser968Thr
NP_001394604.1:p.Ser968Thr
NP_001394605.1:p.Ser968Thr
NP_001394606.1:p.Ser968Thr
NP_001394607.1:p.Ser968Thr
NP_001394608.1:p.Ser968Thr
NP_001394609.1:p.Ser968Thr
NP_001394610.1:p.Ser968Thr
NP_001394611.1:p.Ser968Thr
NP_001394612.1:p.Ser968Thr
NP_001394613.1:p.Ser1009Thr
NP_001394614.1:p.Ser967Thr
NP_001394615.1:p.Ser967Thr
NP_001394616.1:p.Ser967Thr
NP_001394617.1:p.Ser967Thr
NP_001394618.1:p.Ser967Thr
NP_001394619.1:p.Ser967Thr
NP_001394620.1:p.Ser967Thr
NP_001394621.1:p.Ser962Thr
NP_001394623.1:p.Ser962Thr
NP_001394624.1:p.Ser962Thr
NP_001394625.1:p.Ser962Thr
NP_001394626.1:p.Ser962Thr
NP_001394627.1:p.Ser962Thr
NP_001394653.1:p.Ser962Thr
NP_001394654.1:p.Ser962Thr
NP_001394655.1:p.Ser962Thr
NP_001394656.1:p.Ser962Thr
NP_001394657.1:p.Ser962Thr
NP_001394658.1:p.Ser962Thr
NP_001394659.1:p.Ser962Thr
NP_001394660.1:p.Ser962Thr
NP_001394661.1:p.Ser962Thr
NP_001394662.1:p.Ser962Thr
NP_001394663.1:p.Ser962Thr
NP_001394664.1:p.Ser962Thr
NP_001394665.1:p.Ser962Thr
NP_001394666.1:p.Ser962Thr
NP_001394667.1:p.Ser962Thr
NP_001394668.1:p.Ser962Thr
NP_001394669.1:p.Ser961Thr
NP_001394670.1:p.Ser961Thr
NP_001394671.1:p.Ser961Thr
NP_001394672.1:p.Ser961Thr
NP_001394673.1:p.Ser961Thr
NP_001394674.1:p.Ser961Thr
NP_001394675.1:p.Ser961Thr
NP_001394676.1:p.Ser961Thr
NP_001394677.1:p.Ser961Thr
NP_001394678.1:p.Ser961Thr
NP_001394679.1:p.Ser962Thr
NP_001394680.1:p.Ser962Thr
NP_001394681.1:p.Ser962Thr
NP_001394767.1:p.Ser961Thr
NP_001394768.1:p.Ser961Thr
NP_001394770.1:p.Ser961Thr
NP_001394771.1:p.Ser961Thr
NP_001394772.1:p.Ser961Thr
NP_001394773.1:p.Ser961Thr
NP_001394774.1:p.Ser961Thr
NP_001394775.1:p.Ser961Thr
NP_001394776.1:p.Ser961Thr
NP_001394777.1:p.Ser961Thr
NP_001394778.1:p.Ser961Thr
NP_001394779.1:p.Ser962Thr
NP_001394780.1:p.Ser962Thr
NP_001394781.1:p.Ser962Thr
NP_001394782.1:p.Ser938Thr
NP_001394783.1:p.Ser1009Thr
NP_001394787.1:p.Ser1009Thr
NP_001394788.1:p.Ser1009Thr
NP_001394789.1:p.Ser1008Thr
NP_001394790.1:p.Ser1008Thr
NP_001394791.1:p.Ser942Thr
NP_001394792.1:p.Ser968Thr
NP_001394803.1:p.Ser941Thr
NP_001394804.1:p.Ser941Thr
NP_001394808.1:p.Ser939Thr
NP_001394810.1:p.Ser939Thr
NP_001394811.1:p.Ser939Thr
NP_001394813.1:p.Ser939Thr
NP_001394814.1:p.Ser939Thr
NP_001394815.1:p.Ser939Thr
NP_001394816.1:p.Ser939Thr
NP_001394818.1:p.Ser939Thr
NP_001394823.1:p.Ser938Thr
NP_001394824.1:p.Ser938Thr
NP_001394825.1:p.Ser938Thr
NP_001394826.1:p.Ser938Thr
NP_001394827.1:p.Ser938Thr
NP_001394828.1:p.Ser938Thr
NP_001394829.1:p.Ser939Thr
NP_001394831.1:p.Ser939Thr
NP_001394833.1:p.Ser939Thr
NP_001394835.1:p.Ser939Thr
NP_001394836.1:p.Ser939Thr
NP_001394837.1:p.Ser939Thr
NP_001394838.1:p.Ser939Thr
NP_001394839.1:p.Ser939Thr
NP_001394844.1:p.Ser938Thr
NP_001394845.1:p.Ser938Thr
NP_001394846.1:p.Ser938Thr
NP_001394847.1:p.Ser938Thr
NP_001394848.1:p.Ser968Thr
NP_001394849.1:p.Ser921Thr
NP_001394850.1:p.Ser921Thr
NP_001394851.1:p.Ser921Thr
NP_001394852.1:p.Ser921Thr
NP_001394853.1:p.Ser921Thr
NP_001394854.1:p.Ser921Thr
NP_001394855.1:p.Ser921Thr
NP_001394856.1:p.Ser921Thr
NP_001394857.1:p.Ser921Thr
NP_001394858.1:p.Ser921Thr
NP_001394859.1:p.Ser920Thr
NP_001394860.1:p.Ser920Thr
NP_001394861.1:p.Ser920Thr
NP_001394862.1:p.Ser921Thr
NP_001394863.1:p.Ser920Thr
NP_001394864.1:p.Ser921Thr
NP_001394865.1:p.Ser920Thr
NP_001394866.1:p.Ser968Thr
NP_001394867.1:p.Ser968Thr
NP_001394868.1:p.Ser968Thr
NP_001394869.1:p.Ser967Thr
NP_001394870.1:p.Ser967Thr
NP_001394871.1:p.Ser962Thr
NP_001394872.1:p.Ser961Thr
NP_001394873.1:p.Ser962Thr
NP_001394874.1:p.Ser962Thr
NP_001394875.1:p.Ser898Thr
NP_001394876.1:p.Ser898Thr
NP_001394877.1:p.Ser898Thr
NP_001394878.1:p.Ser898Thr
NP_001394879.1:p.Ser898Thr
NP_001394880.1:p.Ser898Thr
NP_001394881.1:p.Ser898Thr
NP_001394882.1:p.Ser898Thr
NP_001394883.1:p.Ser897Thr
NP_001394884.1:p.Ser897Thr
NP_001394885.1:p.Ser897Thr
NP_001394886.1:p.Ser898Thr
NP_001394887.1:p.Ser897Thr
NP_001394888.1:p.Ser882Thr
NP_001394889.1:p.Ser882Thr
NP_001394891.1:p.Ser881Thr
NP_001394892.1:p.Ser882Thr
NP_001394893.1:p.Ser961Thr
NP_001394894.1:p.Ser841Thr
NP_001394895.1:p.Ser713Thr
NP_001394896.1:p.Ser713Thr
NP_009225.1:p.Ser1009Thr
NP_009225.1:p.Ser1009Thr
NP_009228.2:p.Ser962Thr
NP_009231.2:p.Ser1009Thr
LRG_292t1:c.3025T>A
LRG_292:g.125478T>A
LRG_292p1:p.Ser1009Thr
NC_000017.10:g.41244523A>T
NM_007294.3:c.3025T>A
NR_027676.1:n.3161T>A

Protein change:

S1006T

Links:

dbSNP: rs2053654131

NCBI 1000 Genomes Browser:

rs2053654131

Molecular consequence:

NM_001407968.1:c.788-367T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-367T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1483T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1474T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3016T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3016T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.2944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.2944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.2944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.2944T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.2947T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3022T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2824T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2821T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2821T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2815T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2812T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2758T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2758T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2758T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2758T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2761T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2758T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2902T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2899T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2689T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2689T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2689T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2692T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2689T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2644T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2644T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2641T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2644T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2881T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2521T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2137T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2137T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3025T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2884T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3025T>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003849184	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

SCV003849184

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]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]

PMID:: 31911673
PMCID:: PMC7200594

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849184.1

#	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: May 7, 2024

ClinVar

Relating variation to medicine