NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Nov 14, 2023
Review status:: criteria provided, conflicting classifications

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

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

Record status:: current
Accession:: RCV000165959.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)]

NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)

HGVS:

NC_000017.11:g.43092120C>T
NG_005905.2:g.125864G>A
NG_087068.1:g.1102C>T
NM_001407571.1:c.3198G>A
NM_001407581.1:c.3411G>A
NM_001407582.1:c.3411G>A
NM_001407583.1:c.3411G>A
NM_001407585.1:c.3411G>A
NM_001407587.1:c.3408G>A
NM_001407590.1:c.3408G>A
NM_001407591.1:c.3408G>A
NM_001407593.1:c.3411G>A
NM_001407594.1:c.3411G>A
NM_001407596.1:c.3411G>A
NM_001407597.1:c.3411G>A
NM_001407598.1:c.3411G>A
NM_001407602.1:c.3411G>A
NM_001407603.1:c.3411G>A
NM_001407605.1:c.3411G>A
NM_001407610.1:c.3408G>A
NM_001407611.1:c.3408G>A
NM_001407612.1:c.3408G>A
NM_001407613.1:c.3408G>A
NM_001407614.1:c.3408G>A
NM_001407615.1:c.3408G>A
NM_001407616.1:c.3411G>A
NM_001407617.1:c.3411G>A
NM_001407618.1:c.3411G>A
NM_001407619.1:c.3411G>A
NM_001407620.1:c.3411G>A
NM_001407621.1:c.3411G>A
NM_001407622.1:c.3411G>A
NM_001407623.1:c.3411G>A
NM_001407624.1:c.3411G>A
NM_001407625.1:c.3411G>A
NM_001407626.1:c.3411G>A
NM_001407627.1:c.3408G>A
NM_001407628.1:c.3408G>A
NM_001407629.1:c.3408G>A
NM_001407630.1:c.3408G>A
NM_001407631.1:c.3408G>A
NM_001407632.1:c.3408G>A
NM_001407633.1:c.3408G>A
NM_001407634.1:c.3408G>A
NM_001407635.1:c.3408G>A
NM_001407636.1:c.3408G>A
NM_001407637.1:c.3408G>A
NM_001407638.1:c.3408G>A
NM_001407639.1:c.3411G>A
NM_001407640.1:c.3411G>A
NM_001407641.1:c.3411G>A
NM_001407642.1:c.3411G>A
NM_001407644.1:c.3408G>A
NM_001407645.1:c.3408G>A
NM_001407646.1:c.3402G>A
NM_001407647.1:c.3402G>A
NM_001407648.1:c.3288G>A
NM_001407649.1:c.3285G>A
NM_001407652.1:c.3411G>A
NM_001407653.1:c.3333G>A
NM_001407654.1:c.3333G>A
NM_001407655.1:c.3333G>A
NM_001407656.1:c.3333G>A
NM_001407657.1:c.3333G>A
NM_001407658.1:c.3333G>A
NM_001407659.1:c.3330G>A
NM_001407660.1:c.3330G>A
NM_001407661.1:c.3330G>A
NM_001407662.1:c.3330G>A
NM_001407663.1:c.3333G>A
NM_001407664.1:c.3288G>A
NM_001407665.1:c.3288G>A
NM_001407666.1:c.3288G>A
NM_001407667.1:c.3288G>A
NM_001407668.1:c.3288G>A
NM_001407669.1:c.3288G>A
NM_001407670.1:c.3285G>A
NM_001407671.1:c.3285G>A
NM_001407672.1:c.3285G>A
NM_001407673.1:c.3285G>A
NM_001407674.1:c.3288G>A
NM_001407675.1:c.3288G>A
NM_001407676.1:c.3288G>A
NM_001407677.1:c.3288G>A
NM_001407678.1:c.3288G>A
NM_001407679.1:c.3288G>A
NM_001407680.1:c.3288G>A
NM_001407681.1:c.3288G>A
NM_001407682.1:c.3288G>A
NM_001407683.1:c.3288G>A
NM_001407684.1:c.3411G>A
NM_001407685.1:c.3285G>A
NM_001407686.1:c.3285G>A
NM_001407687.1:c.3285G>A
NM_001407688.1:c.3285G>A
NM_001407689.1:c.3285G>A
NM_001407690.1:c.3285G>A
NM_001407691.1:c.3285G>A
NM_001407692.1:c.3270G>A
NM_001407694.1:c.3270G>A
NM_001407695.1:c.3270G>A
NM_001407696.1:c.3270G>A
NM_001407697.1:c.3270G>A
NM_001407698.1:c.3270G>A
NM_001407724.1:c.3270G>A
NM_001407725.1:c.3270G>A
NM_001407726.1:c.3270G>A
NM_001407727.1:c.3270G>A
NM_001407728.1:c.3270G>A
NM_001407729.1:c.3270G>A
NM_001407730.1:c.3270G>A
NM_001407731.1:c.3270G>A
NM_001407732.1:c.3270G>A
NM_001407733.1:c.3270G>A
NM_001407734.1:c.3270G>A
NM_001407735.1:c.3270G>A
NM_001407736.1:c.3270G>A
NM_001407737.1:c.3270G>A
NM_001407738.1:c.3270G>A
NM_001407739.1:c.3270G>A
NM_001407740.1:c.3267G>A
NM_001407741.1:c.3267G>A
NM_001407742.1:c.3267G>A
NM_001407743.1:c.3267G>A
NM_001407744.1:c.3267G>A
NM_001407745.1:c.3267G>A
NM_001407746.1:c.3267G>A
NM_001407747.1:c.3267G>A
NM_001407748.1:c.3267G>A
NM_001407749.1:c.3267G>A
NM_001407750.1:c.3270G>A
NM_001407751.1:c.3270G>A
NM_001407752.1:c.3270G>A
NM_001407838.1:c.3267G>A
NM_001407839.1:c.3267G>A
NM_001407841.1:c.3267G>A
NM_001407842.1:c.3267G>A
NM_001407843.1:c.3267G>A
NM_001407844.1:c.3267G>A
NM_001407845.1:c.3267G>A
NM_001407846.1:c.3267G>A
NM_001407847.1:c.3267G>A
NM_001407848.1:c.3267G>A
NM_001407849.1:c.3267G>A
NM_001407850.1:c.3270G>A
NM_001407851.1:c.3270G>A
NM_001407852.1:c.3270G>A
NM_001407853.1:c.3198G>A
NM_001407854.1:c.3411G>A
NM_001407858.1:c.3411G>A
NM_001407859.1:c.3411G>A
NM_001407860.1:c.3408G>A
NM_001407861.1:c.3408G>A
NM_001407862.1:c.3210G>A
NM_001407863.1:c.3288G>A
NM_001407874.1:c.3207G>A
NM_001407875.1:c.3207G>A
NM_001407879.1:c.3201G>A
NM_001407881.1:c.3201G>A
NM_001407882.1:c.3201G>A
NM_001407884.1:c.3201G>A
NM_001407885.1:c.3201G>A
NM_001407886.1:c.3201G>A
NM_001407887.1:c.3201G>A
NM_001407889.1:c.3201G>A
NM_001407894.1:c.3198G>A
NM_001407895.1:c.3198G>A
NM_001407896.1:c.3198G>A
NM_001407897.1:c.3198G>A
NM_001407898.1:c.3198G>A
NM_001407899.1:c.3198G>A
NM_001407900.1:c.3201G>A
NM_001407902.1:c.3201G>A
NM_001407904.1:c.3201G>A
NM_001407906.1:c.3201G>A
NM_001407907.1:c.3201G>A
NM_001407908.1:c.3201G>A
NM_001407909.1:c.3201G>A
NM_001407910.1:c.3201G>A
NM_001407915.1:c.3198G>A
NM_001407916.1:c.3198G>A
NM_001407917.1:c.3198G>A
NM_001407918.1:c.3198G>A
NM_001407919.1:c.3288G>A
NM_001407920.1:c.3147G>A
NM_001407921.1:c.3147G>A
NM_001407922.1:c.3147G>A
NM_001407923.1:c.3147G>A
NM_001407924.1:c.3147G>A
NM_001407925.1:c.3147G>A
NM_001407926.1:c.3147G>A
NM_001407927.1:c.3147G>A
NM_001407928.1:c.3147G>A
NM_001407929.1:c.3147G>A
NM_001407930.1:c.3144G>A
NM_001407931.1:c.3144G>A
NM_001407932.1:c.3144G>A
NM_001407933.1:c.3147G>A
NM_001407934.1:c.3144G>A
NM_001407935.1:c.3147G>A
NM_001407936.1:c.3144G>A
NM_001407937.1:c.3288G>A
NM_001407938.1:c.3288G>A
NM_001407939.1:c.3288G>A
NM_001407940.1:c.3285G>A
NM_001407941.1:c.3285G>A
NM_001407942.1:c.3270G>A
NM_001407943.1:c.3267G>A
NM_001407944.1:c.3270G>A
NM_001407945.1:c.3270G>A
NM_001407946.1:c.3078G>A
NM_001407947.1:c.3078G>A
NM_001407948.1:c.3078G>A
NM_001407949.1:c.3078G>A
NM_001407950.1:c.3078G>A
NM_001407951.1:c.3078G>A
NM_001407952.1:c.3078G>A
NM_001407953.1:c.3078G>A
NM_001407954.1:c.3075G>A
NM_001407955.1:c.3075G>A
NM_001407956.1:c.3075G>A
NM_001407957.1:c.3078G>A
NM_001407958.1:c.3075G>A
NM_001407959.1:c.3030G>A
NM_001407960.1:c.3030G>A
NM_001407962.1:c.3027G>A
NM_001407963.1:c.3030G>A
NM_001407964.1:c.3267G>A
NM_001407965.1:c.2907G>A
NM_001407966.1:c.2523G>A
NM_001407967.1:c.2523G>A
NM_001407968.1:c.807G>A
NM_001407969.1:c.807G>A
NM_001407970.1:c.788-1088G>A
NM_001407971.1:c.788-1088G>A
NM_001407972.1:c.785-1088G>A
NM_001407973.1:c.788-1088G>A
NM_001407974.1:c.788-1088G>A
NM_001407975.1:c.788-1088G>A
NM_001407976.1:c.788-1088G>A
NM_001407977.1:c.788-1088G>A
NM_001407978.1:c.788-1088G>A
NM_001407979.1:c.788-1088G>A
NM_001407980.1:c.788-1088G>A
NM_001407981.1:c.788-1088G>A
NM_001407982.1:c.788-1088G>A
NM_001407983.1:c.788-1088G>A
NM_001407984.1:c.785-1088G>A
NM_001407985.1:c.785-1088G>A
NM_001407986.1:c.785-1088G>A
NM_001407990.1:c.788-1088G>A
NM_001407991.1:c.785-1088G>A
NM_001407992.1:c.785-1088G>A
NM_001407993.1:c.788-1088G>A
NM_001408392.1:c.785-1088G>A
NM_001408396.1:c.785-1088G>A
NM_001408397.1:c.785-1088G>A
NM_001408398.1:c.785-1088G>A
NM_001408399.1:c.785-1088G>A
NM_001408400.1:c.785-1088G>A
NM_001408401.1:c.785-1088G>A
NM_001408402.1:c.785-1088G>A
NM_001408403.1:c.788-1088G>A
NM_001408404.1:c.788-1088G>A
NM_001408406.1:c.791-1097G>A
NM_001408407.1:c.785-1088G>A
NM_001408408.1:c.779-1088G>A
NM_001408409.1:c.710-1088G>A
NM_001408410.1:c.647-1088G>A
NM_001408411.1:c.710-1088G>A
NM_001408412.1:c.710-1088G>A
NM_001408413.1:c.707-1088G>A
NM_001408414.1:c.710-1088G>A
NM_001408415.1:c.710-1088G>A
NM_001408416.1:c.707-1088G>A
NM_001408418.1:c.671-1088G>A
NM_001408419.1:c.671-1088G>A
NM_001408420.1:c.671-1088G>A
NM_001408421.1:c.668-1088G>A
NM_001408422.1:c.671-1088G>A
NM_001408423.1:c.671-1088G>A
NM_001408424.1:c.668-1088G>A
NM_001408425.1:c.665-1088G>A
NM_001408426.1:c.665-1088G>A
NM_001408427.1:c.665-1088G>A
NM_001408428.1:c.665-1088G>A
NM_001408429.1:c.665-1088G>A
NM_001408430.1:c.665-1088G>A
NM_001408431.1:c.668-1088G>A
NM_001408432.1:c.662-1088G>A
NM_001408433.1:c.662-1088G>A
NM_001408434.1:c.662-1088G>A
NM_001408435.1:c.662-1088G>A
NM_001408436.1:c.665-1088G>A
NM_001408437.1:c.665-1088G>A
NM_001408438.1:c.665-1088G>A
NM_001408439.1:c.665-1088G>A
NM_001408440.1:c.665-1088G>A
NM_001408441.1:c.665-1088G>A
NM_001408442.1:c.665-1088G>A
NM_001408443.1:c.665-1088G>A
NM_001408444.1:c.665-1088G>A
NM_001408445.1:c.662-1088G>A
NM_001408446.1:c.662-1088G>A
NM_001408447.1:c.662-1088G>A
NM_001408448.1:c.662-1088G>A
NM_001408450.1:c.662-1088G>A
NM_001408451.1:c.653-1088G>A
NM_001408452.1:c.647-1088G>A
NM_001408453.1:c.647-1088G>A
NM_001408454.1:c.647-1088G>A
NM_001408455.1:c.647-1088G>A
NM_001408456.1:c.647-1088G>A
NM_001408457.1:c.647-1088G>A
NM_001408458.1:c.647-1088G>A
NM_001408459.1:c.647-1088G>A
NM_001408460.1:c.647-1088G>A
NM_001408461.1:c.647-1088G>A
NM_001408462.1:c.644-1088G>A
NM_001408463.1:c.644-1088G>A
NM_001408464.1:c.644-1088G>A
NM_001408465.1:c.644-1088G>A
NM_001408466.1:c.647-1088G>A
NM_001408467.1:c.647-1088G>A
NM_001408468.1:c.644-1088G>A
NM_001408469.1:c.647-1088G>A
NM_001408470.1:c.644-1088G>A
NM_001408472.1:c.788-1088G>A
NM_001408473.1:c.785-1088G>A
NM_001408474.1:c.587-1088G>A
NM_001408475.1:c.584-1088G>A
NM_001408476.1:c.587-1088G>A
NM_001408478.1:c.578-1088G>A
NM_001408479.1:c.578-1088G>A
NM_001408480.1:c.578-1088G>A
NM_001408481.1:c.578-1088G>A
NM_001408482.1:c.578-1088G>A
NM_001408483.1:c.578-1088G>A
NM_001408484.1:c.578-1088G>A
NM_001408485.1:c.578-1088G>A
NM_001408489.1:c.578-1088G>A
NM_001408490.1:c.575-1088G>A
NM_001408491.1:c.575-1088G>A
NM_001408492.1:c.578-1088G>A
NM_001408493.1:c.575-1088G>A
NM_001408494.1:c.548-1088G>A
NM_001408495.1:c.545-1088G>A
NM_001408496.1:c.524-1088G>A
NM_001408497.1:c.524-1088G>A
NM_001408498.1:c.524-1088G>A
NM_001408499.1:c.524-1088G>A
NM_001408500.1:c.524-1088G>A
NM_001408501.1:c.524-1088G>A
NM_001408502.1:c.455-1088G>A
NM_001408503.1:c.521-1088G>A
NM_001408504.1:c.521-1088G>A
NM_001408505.1:c.521-1088G>A
NM_001408506.1:c.461-1088G>A
NM_001408507.1:c.461-1088G>A
NM_001408508.1:c.452-1088G>A
NM_001408509.1:c.452-1088G>A
NM_001408510.1:c.407-1088G>A
NM_001408511.1:c.404-1088G>A
NM_001408512.1:c.284-1088G>A
NM_001408513.1:c.578-1088G>A
NM_001408514.1:c.578-1088G>A
NM_007294.4:c.3411G>AMANE SELECT
NM_007297.4:c.3270G>A
NM_007298.4:c.788-1088G>A
NM_007299.4:c.788-1088G>A
NM_007300.4:c.3411G>A
NP_001394500.1:p.Met1066Ile
NP_001394510.1:p.Met1137Ile
NP_001394511.1:p.Met1137Ile
NP_001394512.1:p.Met1137Ile
NP_001394514.1:p.Met1137Ile
NP_001394516.1:p.Met1136Ile
NP_001394519.1:p.Met1136Ile
NP_001394520.1:p.Met1136Ile
NP_001394522.1:p.Met1137Ile
NP_001394523.1:p.Met1137Ile
NP_001394525.1:p.Met1137Ile
NP_001394526.1:p.Met1137Ile
NP_001394527.1:p.Met1137Ile
NP_001394531.1:p.Met1137Ile
NP_001394532.1:p.Met1137Ile
NP_001394534.1:p.Met1137Ile
NP_001394539.1:p.Met1136Ile
NP_001394540.1:p.Met1136Ile
NP_001394541.1:p.Met1136Ile
NP_001394542.1:p.Met1136Ile
NP_001394543.1:p.Met1136Ile
NP_001394544.1:p.Met1136Ile
NP_001394545.1:p.Met1137Ile
NP_001394546.1:p.Met1137Ile
NP_001394547.1:p.Met1137Ile
NP_001394548.1:p.Met1137Ile
NP_001394549.1:p.Met1137Ile
NP_001394550.1:p.Met1137Ile
NP_001394551.1:p.Met1137Ile
NP_001394552.1:p.Met1137Ile
NP_001394553.1:p.Met1137Ile
NP_001394554.1:p.Met1137Ile
NP_001394555.1:p.Met1137Ile
NP_001394556.1:p.Met1136Ile
NP_001394557.1:p.Met1136Ile
NP_001394558.1:p.Met1136Ile
NP_001394559.1:p.Met1136Ile
NP_001394560.1:p.Met1136Ile
NP_001394561.1:p.Met1136Ile
NP_001394562.1:p.Met1136Ile
NP_001394563.1:p.Met1136Ile
NP_001394564.1:p.Met1136Ile
NP_001394565.1:p.Met1136Ile
NP_001394566.1:p.Met1136Ile
NP_001394567.1:p.Met1136Ile
NP_001394568.1:p.Met1137Ile
NP_001394569.1:p.Met1137Ile
NP_001394570.1:p.Met1137Ile
NP_001394571.1:p.Met1137Ile
NP_001394573.1:p.Met1136Ile
NP_001394574.1:p.Met1136Ile
NP_001394575.1:p.Met1134Ile
NP_001394576.1:p.Met1134Ile
NP_001394577.1:p.Met1096Ile
NP_001394578.1:p.Met1095Ile
NP_001394581.1:p.Met1137Ile
NP_001394582.1:p.Met1111Ile
NP_001394583.1:p.Met1111Ile
NP_001394584.1:p.Met1111Ile
NP_001394585.1:p.Met1111Ile
NP_001394586.1:p.Met1111Ile
NP_001394587.1:p.Met1111Ile
NP_001394588.1:p.Met1110Ile
NP_001394589.1:p.Met1110Ile
NP_001394590.1:p.Met1110Ile
NP_001394591.1:p.Met1110Ile
NP_001394592.1:p.Met1111Ile
NP_001394593.1:p.Met1096Ile
NP_001394594.1:p.Met1096Ile
NP_001394595.1:p.Met1096Ile
NP_001394596.1:p.Met1096Ile
NP_001394597.1:p.Met1096Ile
NP_001394598.1:p.Met1096Ile
NP_001394599.1:p.Met1095Ile
NP_001394600.1:p.Met1095Ile
NP_001394601.1:p.Met1095Ile
NP_001394602.1:p.Met1095Ile
NP_001394603.1:p.Met1096Ile
NP_001394604.1:p.Met1096Ile
NP_001394605.1:p.Met1096Ile
NP_001394606.1:p.Met1096Ile
NP_001394607.1:p.Met1096Ile
NP_001394608.1:p.Met1096Ile
NP_001394609.1:p.Met1096Ile
NP_001394610.1:p.Met1096Ile
NP_001394611.1:p.Met1096Ile
NP_001394612.1:p.Met1096Ile
NP_001394613.1:p.Met1137Ile
NP_001394614.1:p.Met1095Ile
NP_001394615.1:p.Met1095Ile
NP_001394616.1:p.Met1095Ile
NP_001394617.1:p.Met1095Ile
NP_001394618.1:p.Met1095Ile
NP_001394619.1:p.Met1095Ile
NP_001394620.1:p.Met1095Ile
NP_001394621.1:p.Met1090Ile
NP_001394623.1:p.Met1090Ile
NP_001394624.1:p.Met1090Ile
NP_001394625.1:p.Met1090Ile
NP_001394626.1:p.Met1090Ile
NP_001394627.1:p.Met1090Ile
NP_001394653.1:p.Met1090Ile
NP_001394654.1:p.Met1090Ile
NP_001394655.1:p.Met1090Ile
NP_001394656.1:p.Met1090Ile
NP_001394657.1:p.Met1090Ile
NP_001394658.1:p.Met1090Ile
NP_001394659.1:p.Met1090Ile
NP_001394660.1:p.Met1090Ile
NP_001394661.1:p.Met1090Ile
NP_001394662.1:p.Met1090Ile
NP_001394663.1:p.Met1090Ile
NP_001394664.1:p.Met1090Ile
NP_001394665.1:p.Met1090Ile
NP_001394666.1:p.Met1090Ile
NP_001394667.1:p.Met1090Ile
NP_001394668.1:p.Met1090Ile
NP_001394669.1:p.Met1089Ile
NP_001394670.1:p.Met1089Ile
NP_001394671.1:p.Met1089Ile
NP_001394672.1:p.Met1089Ile
NP_001394673.1:p.Met1089Ile
NP_001394674.1:p.Met1089Ile
NP_001394675.1:p.Met1089Ile
NP_001394676.1:p.Met1089Ile
NP_001394677.1:p.Met1089Ile
NP_001394678.1:p.Met1089Ile
NP_001394679.1:p.Met1090Ile
NP_001394680.1:p.Met1090Ile
NP_001394681.1:p.Met1090Ile
NP_001394767.1:p.Met1089Ile
NP_001394768.1:p.Met1089Ile
NP_001394770.1:p.Met1089Ile
NP_001394771.1:p.Met1089Ile
NP_001394772.1:p.Met1089Ile
NP_001394773.1:p.Met1089Ile
NP_001394774.1:p.Met1089Ile
NP_001394775.1:p.Met1089Ile
NP_001394776.1:p.Met1089Ile
NP_001394777.1:p.Met1089Ile
NP_001394778.1:p.Met1089Ile
NP_001394779.1:p.Met1090Ile
NP_001394780.1:p.Met1090Ile
NP_001394781.1:p.Met1090Ile
NP_001394782.1:p.Met1066Ile
NP_001394783.1:p.Met1137Ile
NP_001394787.1:p.Met1137Ile
NP_001394788.1:p.Met1137Ile
NP_001394789.1:p.Met1136Ile
NP_001394790.1:p.Met1136Ile
NP_001394791.1:p.Met1070Ile
NP_001394792.1:p.Met1096Ile
NP_001394803.1:p.Met1069Ile
NP_001394804.1:p.Met1069Ile
NP_001394808.1:p.Met1067Ile
NP_001394810.1:p.Met1067Ile
NP_001394811.1:p.Met1067Ile
NP_001394813.1:p.Met1067Ile
NP_001394814.1:p.Met1067Ile
NP_001394815.1:p.Met1067Ile
NP_001394816.1:p.Met1067Ile
NP_001394818.1:p.Met1067Ile
NP_001394823.1:p.Met1066Ile
NP_001394824.1:p.Met1066Ile
NP_001394825.1:p.Met1066Ile
NP_001394826.1:p.Met1066Ile
NP_001394827.1:p.Met1066Ile
NP_001394828.1:p.Met1066Ile
NP_001394829.1:p.Met1067Ile
NP_001394831.1:p.Met1067Ile
NP_001394833.1:p.Met1067Ile
NP_001394835.1:p.Met1067Ile
NP_001394836.1:p.Met1067Ile
NP_001394837.1:p.Met1067Ile
NP_001394838.1:p.Met1067Ile
NP_001394839.1:p.Met1067Ile
NP_001394844.1:p.Met1066Ile
NP_001394845.1:p.Met1066Ile
NP_001394846.1:p.Met1066Ile
NP_001394847.1:p.Met1066Ile
NP_001394848.1:p.Met1096Ile
NP_001394849.1:p.Met1049Ile
NP_001394850.1:p.Met1049Ile
NP_001394851.1:p.Met1049Ile
NP_001394852.1:p.Met1049Ile
NP_001394853.1:p.Met1049Ile
NP_001394854.1:p.Met1049Ile
NP_001394855.1:p.Met1049Ile
NP_001394856.1:p.Met1049Ile
NP_001394857.1:p.Met1049Ile
NP_001394858.1:p.Met1049Ile
NP_001394859.1:p.Met1048Ile
NP_001394860.1:p.Met1048Ile
NP_001394861.1:p.Met1048Ile
NP_001394862.1:p.Met1049Ile
NP_001394863.1:p.Met1048Ile
NP_001394864.1:p.Met1049Ile
NP_001394865.1:p.Met1048Ile
NP_001394866.1:p.Met1096Ile
NP_001394867.1:p.Met1096Ile
NP_001394868.1:p.Met1096Ile
NP_001394869.1:p.Met1095Ile
NP_001394870.1:p.Met1095Ile
NP_001394871.1:p.Met1090Ile
NP_001394872.1:p.Met1089Ile
NP_001394873.1:p.Met1090Ile
NP_001394874.1:p.Met1090Ile
NP_001394875.1:p.Met1026Ile
NP_001394876.1:p.Met1026Ile
NP_001394877.1:p.Met1026Ile
NP_001394878.1:p.Met1026Ile
NP_001394879.1:p.Met1026Ile
NP_001394880.1:p.Met1026Ile
NP_001394881.1:p.Met1026Ile
NP_001394882.1:p.Met1026Ile
NP_001394883.1:p.Met1025Ile
NP_001394884.1:p.Met1025Ile
NP_001394885.1:p.Met1025Ile
NP_001394886.1:p.Met1026Ile
NP_001394887.1:p.Met1025Ile
NP_001394888.1:p.Met1010Ile
NP_001394889.1:p.Met1010Ile
NP_001394891.1:p.Met1009Ile
NP_001394892.1:p.Met1010Ile
NP_001394893.1:p.Met1089Ile
NP_001394894.1:p.Met969Ile
NP_001394895.1:p.Met841Ile
NP_001394896.1:p.Met841Ile
NP_001394897.1:p.Met269Ile
NP_001394898.1:p.Met269Ile
NP_009225.1:p.Met1137Ile
NP_009225.1:p.Met1137Ile
NP_009228.2:p.Met1090Ile
NP_009231.2:p.Met1137Ile
LRG_292t1:c.3411G>A
LRG_292:g.125864G>A
LRG_292p1:p.Met1137Ile
NC_000017.10:g.41244137C>T
NM_007294.3:c.3411G>A
NR_027676.1:n.3547G>A
p.M1137I

Protein change:

M1009I

Links:

dbSNP: rs786202900

NCBI 1000 Genomes Browser:

rs786202900

Molecular consequence:

NM_001407970.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1097G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1088G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3402G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3330G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3330G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3330G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3330G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3333G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3210G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3147G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3144G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3288G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3285G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.3075G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.3075G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.3075G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.3078G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.3075G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.3030G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.3030G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.3027G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.3030G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3267G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2907G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2523G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3270G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3411G>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
SCV000216716	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 18, 2022)	germline	clinical testing	Citation Link,
SCV000912038	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 14, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003850379	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

SCV000216716

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 18, 2022)

germline

clinical testing

Citation Link,

SCV000912038

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 14, 2023)

germline

clinical testing

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

SCV003850379

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	clinical testing, curation

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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 Ambry Genetics, SCV000216716.6

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

Description

The p.M1137I variant (also known as c.3411G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 3411. The methionine at codon 1137 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV000912038.3

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

Description

This missense variant replaces methionine with isoleucine at codon 1137 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has been identified in 2/282406 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003850379.1

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

Description

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

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine