NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Jan 31, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000048051.26

Allele description [Variation Report for NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)]

NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)

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.3024G>A (p.Met1008Ile)

Other names:

NP_009225.1:p.Met1008Ile

HGVS:

NC_000017.11:g.43092507C>T
NG_005905.2:g.125477G>A
NM_001407571.1:c.2811G>A
NM_001407581.1:c.3024G>A
NM_001407582.1:c.3024G>A
NM_001407583.1:c.3024G>A
NM_001407585.1:c.3024G>A
NM_001407587.1:c.3021G>A
NM_001407590.1:c.3021G>A
NM_001407591.1:c.3021G>A
NM_001407593.1:c.3024G>A
NM_001407594.1:c.3024G>A
NM_001407596.1:c.3024G>A
NM_001407597.1:c.3024G>A
NM_001407598.1:c.3024G>A
NM_001407602.1:c.3024G>A
NM_001407603.1:c.3024G>A
NM_001407605.1:c.3024G>A
NM_001407610.1:c.3021G>A
NM_001407611.1:c.3021G>A
NM_001407612.1:c.3021G>A
NM_001407613.1:c.3021G>A
NM_001407614.1:c.3021G>A
NM_001407615.1:c.3021G>A
NM_001407616.1:c.3024G>A
NM_001407617.1:c.3024G>A
NM_001407618.1:c.3024G>A
NM_001407619.1:c.3024G>A
NM_001407620.1:c.3024G>A
NM_001407621.1:c.3024G>A
NM_001407622.1:c.3024G>A
NM_001407623.1:c.3024G>A
NM_001407624.1:c.3024G>A
NM_001407625.1:c.3024G>A
NM_001407626.1:c.3024G>A
NM_001407627.1:c.3021G>A
NM_001407628.1:c.3021G>A
NM_001407629.1:c.3021G>A
NM_001407630.1:c.3021G>A
NM_001407631.1:c.3021G>A
NM_001407632.1:c.3021G>A
NM_001407633.1:c.3021G>A
NM_001407634.1:c.3021G>A
NM_001407635.1:c.3021G>A
NM_001407636.1:c.3021G>A
NM_001407637.1:c.3021G>A
NM_001407638.1:c.3021G>A
NM_001407639.1:c.3024G>A
NM_001407640.1:c.3024G>A
NM_001407641.1:c.3024G>A
NM_001407642.1:c.3024G>A
NM_001407644.1:c.3021G>A
NM_001407645.1:c.3021G>A
NM_001407646.1:c.3015G>A
NM_001407647.1:c.3015G>A
NM_001407648.1:c.2901G>A
NM_001407649.1:c.2898G>A
NM_001407652.1:c.3024G>A
NM_001407653.1:c.2946G>A
NM_001407654.1:c.2946G>A
NM_001407655.1:c.2946G>A
NM_001407656.1:c.2946G>A
NM_001407657.1:c.2946G>A
NM_001407658.1:c.2946G>A
NM_001407659.1:c.2943G>A
NM_001407660.1:c.2943G>A
NM_001407661.1:c.2943G>A
NM_001407662.1:c.2943G>A
NM_001407663.1:c.2946G>A
NM_001407664.1:c.2901G>A
NM_001407665.1:c.2901G>A
NM_001407666.1:c.2901G>A
NM_001407667.1:c.2901G>A
NM_001407668.1:c.2901G>A
NM_001407669.1:c.2901G>A
NM_001407670.1:c.2898G>A
NM_001407671.1:c.2898G>A
NM_001407672.1:c.2898G>A
NM_001407673.1:c.2898G>A
NM_001407674.1:c.2901G>A
NM_001407675.1:c.2901G>A
NM_001407676.1:c.2901G>A
NM_001407677.1:c.2901G>A
NM_001407678.1:c.2901G>A
NM_001407679.1:c.2901G>A
NM_001407680.1:c.2901G>A
NM_001407681.1:c.2901G>A
NM_001407682.1:c.2901G>A
NM_001407683.1:c.2901G>A
NM_001407684.1:c.3024G>A
NM_001407685.1:c.2898G>A
NM_001407686.1:c.2898G>A
NM_001407687.1:c.2898G>A
NM_001407688.1:c.2898G>A
NM_001407689.1:c.2898G>A
NM_001407690.1:c.2898G>A
NM_001407691.1:c.2898G>A
NM_001407692.1:c.2883G>A
NM_001407694.1:c.2883G>A
NM_001407695.1:c.2883G>A
NM_001407696.1:c.2883G>A
NM_001407697.1:c.2883G>A
NM_001407698.1:c.2883G>A
NM_001407724.1:c.2883G>A
NM_001407725.1:c.2883G>A
NM_001407726.1:c.2883G>A
NM_001407727.1:c.2883G>A
NM_001407728.1:c.2883G>A
NM_001407729.1:c.2883G>A
NM_001407730.1:c.2883G>A
NM_001407731.1:c.2883G>A
NM_001407732.1:c.2883G>A
NM_001407733.1:c.2883G>A
NM_001407734.1:c.2883G>A
NM_001407735.1:c.2883G>A
NM_001407736.1:c.2883G>A
NM_001407737.1:c.2883G>A
NM_001407738.1:c.2883G>A
NM_001407739.1:c.2883G>A
NM_001407740.1:c.2880G>A
NM_001407741.1:c.2880G>A
NM_001407742.1:c.2880G>A
NM_001407743.1:c.2880G>A
NM_001407744.1:c.2880G>A
NM_001407745.1:c.2880G>A
NM_001407746.1:c.2880G>A
NM_001407747.1:c.2880G>A
NM_001407748.1:c.2880G>A
NM_001407749.1:c.2880G>A
NM_001407750.1:c.2883G>A
NM_001407751.1:c.2883G>A
NM_001407752.1:c.2883G>A
NM_001407838.1:c.2880G>A
NM_001407839.1:c.2880G>A
NM_001407841.1:c.2880G>A
NM_001407842.1:c.2880G>A
NM_001407843.1:c.2880G>A
NM_001407844.1:c.2880G>A
NM_001407845.1:c.2880G>A
NM_001407846.1:c.2880G>A
NM_001407847.1:c.2880G>A
NM_001407848.1:c.2880G>A
NM_001407849.1:c.2880G>A
NM_001407850.1:c.2883G>A
NM_001407851.1:c.2883G>A
NM_001407852.1:c.2883G>A
NM_001407853.1:c.2811G>A
NM_001407854.1:c.3024G>A
NM_001407858.1:c.3024G>A
NM_001407859.1:c.3024G>A
NM_001407860.1:c.3021G>A
NM_001407861.1:c.3021G>A
NM_001407862.1:c.2823G>A
NM_001407863.1:c.2901G>A
NM_001407874.1:c.2820G>A
NM_001407875.1:c.2820G>A
NM_001407879.1:c.2814G>A
NM_001407881.1:c.2814G>A
NM_001407882.1:c.2814G>A
NM_001407884.1:c.2814G>A
NM_001407885.1:c.2814G>A
NM_001407886.1:c.2814G>A
NM_001407887.1:c.2814G>A
NM_001407889.1:c.2814G>A
NM_001407894.1:c.2811G>A
NM_001407895.1:c.2811G>A
NM_001407896.1:c.2811G>A
NM_001407897.1:c.2811G>A
NM_001407898.1:c.2811G>A
NM_001407899.1:c.2811G>A
NM_001407900.1:c.2814G>A
NM_001407902.1:c.2814G>A
NM_001407904.1:c.2814G>A
NM_001407906.1:c.2814G>A
NM_001407907.1:c.2814G>A
NM_001407908.1:c.2814G>A
NM_001407909.1:c.2814G>A
NM_001407910.1:c.2814G>A
NM_001407915.1:c.2811G>A
NM_001407916.1:c.2811G>A
NM_001407917.1:c.2811G>A
NM_001407918.1:c.2811G>A
NM_001407919.1:c.2901G>A
NM_001407920.1:c.2760G>A
NM_001407921.1:c.2760G>A
NM_001407922.1:c.2760G>A
NM_001407923.1:c.2760G>A
NM_001407924.1:c.2760G>A
NM_001407925.1:c.2760G>A
NM_001407926.1:c.2760G>A
NM_001407927.1:c.2760G>A
NM_001407928.1:c.2760G>A
NM_001407929.1:c.2760G>A
NM_001407930.1:c.2757G>A
NM_001407931.1:c.2757G>A
NM_001407932.1:c.2757G>A
NM_001407933.1:c.2760G>A
NM_001407934.1:c.2757G>A
NM_001407935.1:c.2760G>A
NM_001407936.1:c.2757G>A
NM_001407937.1:c.2901G>A
NM_001407938.1:c.2901G>A
NM_001407939.1:c.2901G>A
NM_001407940.1:c.2898G>A
NM_001407941.1:c.2898G>A
NM_001407942.1:c.2883G>A
NM_001407943.1:c.2880G>A
NM_001407944.1:c.2883G>A
NM_001407945.1:c.2883G>A
NM_001407946.1:c.2691G>A
NM_001407947.1:c.2691G>A
NM_001407948.1:c.2691G>A
NM_001407949.1:c.2691G>A
NM_001407950.1:c.2691G>A
NM_001407951.1:c.2691G>A
NM_001407952.1:c.2691G>A
NM_001407953.1:c.2691G>A
NM_001407954.1:c.2688G>A
NM_001407955.1:c.2688G>A
NM_001407956.1:c.2688G>A
NM_001407957.1:c.2691G>A
NM_001407958.1:c.2688G>A
NM_001407959.1:c.2643G>A
NM_001407960.1:c.2643G>A
NM_001407962.1:c.2640G>A
NM_001407963.1:c.2643G>A
NM_001407964.1:c.2880G>A
NM_001407965.1:c.2520G>A
NM_001407966.1:c.2136G>A
NM_001407967.1:c.2136G>A
NM_001407968.1:c.788-368G>A
NM_001407969.1:c.788-368G>A
NM_001407970.1:c.788-1475G>A
NM_001407971.1:c.788-1475G>A
NM_001407972.1:c.785-1475G>A
NM_001407973.1:c.788-1475G>A
NM_001407974.1:c.788-1475G>A
NM_001407975.1:c.788-1475G>A
NM_001407976.1:c.788-1475G>A
NM_001407977.1:c.788-1475G>A
NM_001407978.1:c.788-1475G>A
NM_001407979.1:c.788-1475G>A
NM_001407980.1:c.788-1475G>A
NM_001407981.1:c.788-1475G>A
NM_001407982.1:c.788-1475G>A
NM_001407983.1:c.788-1475G>A
NM_001407984.1:c.785-1475G>A
NM_001407985.1:c.785-1475G>A
NM_001407986.1:c.785-1475G>A
NM_001407990.1:c.788-1475G>A
NM_001407991.1:c.785-1475G>A
NM_001407992.1:c.785-1475G>A
NM_001407993.1:c.788-1475G>A
NM_001408392.1:c.785-1475G>A
NM_001408396.1:c.785-1475G>A
NM_001408397.1:c.785-1475G>A
NM_001408398.1:c.785-1475G>A
NM_001408399.1:c.785-1475G>A
NM_001408400.1:c.785-1475G>A
NM_001408401.1:c.785-1475G>A
NM_001408402.1:c.785-1475G>A
NM_001408403.1:c.788-1475G>A
NM_001408404.1:c.788-1475G>A
NM_001408406.1:c.791-1484G>A
NM_001408407.1:c.785-1475G>A
NM_001408408.1:c.779-1475G>A
NM_001408409.1:c.710-1475G>A
NM_001408410.1:c.647-1475G>A
NM_001408411.1:c.710-1475G>A
NM_001408412.1:c.710-1475G>A
NM_001408413.1:c.707-1475G>A
NM_001408414.1:c.710-1475G>A
NM_001408415.1:c.710-1475G>A
NM_001408416.1:c.707-1475G>A
NM_001408418.1:c.671-1475G>A
NM_001408419.1:c.671-1475G>A
NM_001408420.1:c.671-1475G>A
NM_001408421.1:c.668-1475G>A
NM_001408422.1:c.671-1475G>A
NM_001408423.1:c.671-1475G>A
NM_001408424.1:c.668-1475G>A
NM_001408425.1:c.665-1475G>A
NM_001408426.1:c.665-1475G>A
NM_001408427.1:c.665-1475G>A
NM_001408428.1:c.665-1475G>A
NM_001408429.1:c.665-1475G>A
NM_001408430.1:c.665-1475G>A
NM_001408431.1:c.668-1475G>A
NM_001408432.1:c.662-1475G>A
NM_001408433.1:c.662-1475G>A
NM_001408434.1:c.662-1475G>A
NM_001408435.1:c.662-1475G>A
NM_001408436.1:c.665-1475G>A
NM_001408437.1:c.665-1475G>A
NM_001408438.1:c.665-1475G>A
NM_001408439.1:c.665-1475G>A
NM_001408440.1:c.665-1475G>A
NM_001408441.1:c.665-1475G>A
NM_001408442.1:c.665-1475G>A
NM_001408443.1:c.665-1475G>A
NM_001408444.1:c.665-1475G>A
NM_001408445.1:c.662-1475G>A
NM_001408446.1:c.662-1475G>A
NM_001408447.1:c.662-1475G>A
NM_001408448.1:c.662-1475G>A
NM_001408450.1:c.662-1475G>A
NM_001408451.1:c.653-1475G>A
NM_001408452.1:c.647-1475G>A
NM_001408453.1:c.647-1475G>A
NM_001408454.1:c.647-1475G>A
NM_001408455.1:c.647-1475G>A
NM_001408456.1:c.647-1475G>A
NM_001408457.1:c.647-1475G>A
NM_001408458.1:c.647-1475G>A
NM_001408459.1:c.647-1475G>A
NM_001408460.1:c.647-1475G>A
NM_001408461.1:c.647-1475G>A
NM_001408462.1:c.644-1475G>A
NM_001408463.1:c.644-1475G>A
NM_001408464.1:c.644-1475G>A
NM_001408465.1:c.644-1475G>A
NM_001408466.1:c.647-1475G>A
NM_001408467.1:c.647-1475G>A
NM_001408468.1:c.644-1475G>A
NM_001408469.1:c.647-1475G>A
NM_001408470.1:c.644-1475G>A
NM_001408472.1:c.788-1475G>A
NM_001408473.1:c.785-1475G>A
NM_001408474.1:c.587-1475G>A
NM_001408475.1:c.584-1475G>A
NM_001408476.1:c.587-1475G>A
NM_001408478.1:c.578-1475G>A
NM_001408479.1:c.578-1475G>A
NM_001408480.1:c.578-1475G>A
NM_001408481.1:c.578-1475G>A
NM_001408482.1:c.578-1475G>A
NM_001408483.1:c.578-1475G>A
NM_001408484.1:c.578-1475G>A
NM_001408485.1:c.578-1475G>A
NM_001408489.1:c.578-1475G>A
NM_001408490.1:c.575-1475G>A
NM_001408491.1:c.575-1475G>A
NM_001408492.1:c.578-1475G>A
NM_001408493.1:c.575-1475G>A
NM_001408494.1:c.548-1475G>A
NM_001408495.1:c.545-1475G>A
NM_001408496.1:c.524-1475G>A
NM_001408497.1:c.524-1475G>A
NM_001408498.1:c.524-1475G>A
NM_001408499.1:c.524-1475G>A
NM_001408500.1:c.524-1475G>A
NM_001408501.1:c.524-1475G>A
NM_001408502.1:c.455-1475G>A
NM_001408503.1:c.521-1475G>A
NM_001408504.1:c.521-1475G>A
NM_001408505.1:c.521-1475G>A
NM_001408506.1:c.461-1475G>A
NM_001408507.1:c.461-1475G>A
NM_001408508.1:c.452-1475G>A
NM_001408509.1:c.452-1475G>A
NM_001408510.1:c.407-1475G>A
NM_001408511.1:c.404-1475G>A
NM_001408512.1:c.284-1475G>A
NM_001408513.1:c.578-1475G>A
NM_001408514.1:c.578-1475G>A
NM_007294.4:c.3024G>AMANE SELECT
NM_007297.4:c.2883G>A
NM_007298.4:c.788-1475G>A
NM_007299.4:c.788-1475G>A
NM_007300.4:c.3024G>A
NP_001394500.1:p.Met937Ile
NP_001394510.1:p.Met1008Ile
NP_001394511.1:p.Met1008Ile
NP_001394512.1:p.Met1008Ile
NP_001394514.1:p.Met1008Ile
NP_001394516.1:p.Met1007Ile
NP_001394519.1:p.Met1007Ile
NP_001394520.1:p.Met1007Ile
NP_001394522.1:p.Met1008Ile
NP_001394523.1:p.Met1008Ile
NP_001394525.1:p.Met1008Ile
NP_001394526.1:p.Met1008Ile
NP_001394527.1:p.Met1008Ile
NP_001394531.1:p.Met1008Ile
NP_001394532.1:p.Met1008Ile
NP_001394534.1:p.Met1008Ile
NP_001394539.1:p.Met1007Ile
NP_001394540.1:p.Met1007Ile
NP_001394541.1:p.Met1007Ile
NP_001394542.1:p.Met1007Ile
NP_001394543.1:p.Met1007Ile
NP_001394544.1:p.Met1007Ile
NP_001394545.1:p.Met1008Ile
NP_001394546.1:p.Met1008Ile
NP_001394547.1:p.Met1008Ile
NP_001394548.1:p.Met1008Ile
NP_001394549.1:p.Met1008Ile
NP_001394550.1:p.Met1008Ile
NP_001394551.1:p.Met1008Ile
NP_001394552.1:p.Met1008Ile
NP_001394553.1:p.Met1008Ile
NP_001394554.1:p.Met1008Ile
NP_001394555.1:p.Met1008Ile
NP_001394556.1:p.Met1007Ile
NP_001394557.1:p.Met1007Ile
NP_001394558.1:p.Met1007Ile
NP_001394559.1:p.Met1007Ile
NP_001394560.1:p.Met1007Ile
NP_001394561.1:p.Met1007Ile
NP_001394562.1:p.Met1007Ile
NP_001394563.1:p.Met1007Ile
NP_001394564.1:p.Met1007Ile
NP_001394565.1:p.Met1007Ile
NP_001394566.1:p.Met1007Ile
NP_001394567.1:p.Met1007Ile
NP_001394568.1:p.Met1008Ile
NP_001394569.1:p.Met1008Ile
NP_001394570.1:p.Met1008Ile
NP_001394571.1:p.Met1008Ile
NP_001394573.1:p.Met1007Ile
NP_001394574.1:p.Met1007Ile
NP_001394575.1:p.Met1005Ile
NP_001394576.1:p.Met1005Ile
NP_001394577.1:p.Met967Ile
NP_001394578.1:p.Met966Ile
NP_001394581.1:p.Met1008Ile
NP_001394582.1:p.Met982Ile
NP_001394583.1:p.Met982Ile
NP_001394584.1:p.Met982Ile
NP_001394585.1:p.Met982Ile
NP_001394586.1:p.Met982Ile
NP_001394587.1:p.Met982Ile
NP_001394588.1:p.Met981Ile
NP_001394589.1:p.Met981Ile
NP_001394590.1:p.Met981Ile
NP_001394591.1:p.Met981Ile
NP_001394592.1:p.Met982Ile
NP_001394593.1:p.Met967Ile
NP_001394594.1:p.Met967Ile
NP_001394595.1:p.Met967Ile
NP_001394596.1:p.Met967Ile
NP_001394597.1:p.Met967Ile
NP_001394598.1:p.Met967Ile
NP_001394599.1:p.Met966Ile
NP_001394600.1:p.Met966Ile
NP_001394601.1:p.Met966Ile
NP_001394602.1:p.Met966Ile
NP_001394603.1:p.Met967Ile
NP_001394604.1:p.Met967Ile
NP_001394605.1:p.Met967Ile
NP_001394606.1:p.Met967Ile
NP_001394607.1:p.Met967Ile
NP_001394608.1:p.Met967Ile
NP_001394609.1:p.Met967Ile
NP_001394610.1:p.Met967Ile
NP_001394611.1:p.Met967Ile
NP_001394612.1:p.Met967Ile
NP_001394613.1:p.Met1008Ile
NP_001394614.1:p.Met966Ile
NP_001394615.1:p.Met966Ile
NP_001394616.1:p.Met966Ile
NP_001394617.1:p.Met966Ile
NP_001394618.1:p.Met966Ile
NP_001394619.1:p.Met966Ile
NP_001394620.1:p.Met966Ile
NP_001394621.1:p.Met961Ile
NP_001394623.1:p.Met961Ile
NP_001394624.1:p.Met961Ile
NP_001394625.1:p.Met961Ile
NP_001394626.1:p.Met961Ile
NP_001394627.1:p.Met961Ile
NP_001394653.1:p.Met961Ile
NP_001394654.1:p.Met961Ile
NP_001394655.1:p.Met961Ile
NP_001394656.1:p.Met961Ile
NP_001394657.1:p.Met961Ile
NP_001394658.1:p.Met961Ile
NP_001394659.1:p.Met961Ile
NP_001394660.1:p.Met961Ile
NP_001394661.1:p.Met961Ile
NP_001394662.1:p.Met961Ile
NP_001394663.1:p.Met961Ile
NP_001394664.1:p.Met961Ile
NP_001394665.1:p.Met961Ile
NP_001394666.1:p.Met961Ile
NP_001394667.1:p.Met961Ile
NP_001394668.1:p.Met961Ile
NP_001394669.1:p.Met960Ile
NP_001394670.1:p.Met960Ile
NP_001394671.1:p.Met960Ile
NP_001394672.1:p.Met960Ile
NP_001394673.1:p.Met960Ile
NP_001394674.1:p.Met960Ile
NP_001394675.1:p.Met960Ile
NP_001394676.1:p.Met960Ile
NP_001394677.1:p.Met960Ile
NP_001394678.1:p.Met960Ile
NP_001394679.1:p.Met961Ile
NP_001394680.1:p.Met961Ile
NP_001394681.1:p.Met961Ile
NP_001394767.1:p.Met960Ile
NP_001394768.1:p.Met960Ile
NP_001394770.1:p.Met960Ile
NP_001394771.1:p.Met960Ile
NP_001394772.1:p.Met960Ile
NP_001394773.1:p.Met960Ile
NP_001394774.1:p.Met960Ile
NP_001394775.1:p.Met960Ile
NP_001394776.1:p.Met960Ile
NP_001394777.1:p.Met960Ile
NP_001394778.1:p.Met960Ile
NP_001394779.1:p.Met961Ile
NP_001394780.1:p.Met961Ile
NP_001394781.1:p.Met961Ile
NP_001394782.1:p.Met937Ile
NP_001394783.1:p.Met1008Ile
NP_001394787.1:p.Met1008Ile
NP_001394788.1:p.Met1008Ile
NP_001394789.1:p.Met1007Ile
NP_001394790.1:p.Met1007Ile
NP_001394791.1:p.Met941Ile
NP_001394792.1:p.Met967Ile
NP_001394803.1:p.Met940Ile
NP_001394804.1:p.Met940Ile
NP_001394808.1:p.Met938Ile
NP_001394810.1:p.Met938Ile
NP_001394811.1:p.Met938Ile
NP_001394813.1:p.Met938Ile
NP_001394814.1:p.Met938Ile
NP_001394815.1:p.Met938Ile
NP_001394816.1:p.Met938Ile
NP_001394818.1:p.Met938Ile
NP_001394823.1:p.Met937Ile
NP_001394824.1:p.Met937Ile
NP_001394825.1:p.Met937Ile
NP_001394826.1:p.Met937Ile
NP_001394827.1:p.Met937Ile
NP_001394828.1:p.Met937Ile
NP_001394829.1:p.Met938Ile
NP_001394831.1:p.Met938Ile
NP_001394833.1:p.Met938Ile
NP_001394835.1:p.Met938Ile
NP_001394836.1:p.Met938Ile
NP_001394837.1:p.Met938Ile
NP_001394838.1:p.Met938Ile
NP_001394839.1:p.Met938Ile
NP_001394844.1:p.Met937Ile
NP_001394845.1:p.Met937Ile
NP_001394846.1:p.Met937Ile
NP_001394847.1:p.Met937Ile
NP_001394848.1:p.Met967Ile
NP_001394849.1:p.Met920Ile
NP_001394850.1:p.Met920Ile
NP_001394851.1:p.Met920Ile
NP_001394852.1:p.Met920Ile
NP_001394853.1:p.Met920Ile
NP_001394854.1:p.Met920Ile
NP_001394855.1:p.Met920Ile
NP_001394856.1:p.Met920Ile
NP_001394857.1:p.Met920Ile
NP_001394858.1:p.Met920Ile
NP_001394859.1:p.Met919Ile
NP_001394860.1:p.Met919Ile
NP_001394861.1:p.Met919Ile
NP_001394862.1:p.Met920Ile
NP_001394863.1:p.Met919Ile
NP_001394864.1:p.Met920Ile
NP_001394865.1:p.Met919Ile
NP_001394866.1:p.Met967Ile
NP_001394867.1:p.Met967Ile
NP_001394868.1:p.Met967Ile
NP_001394869.1:p.Met966Ile
NP_001394870.1:p.Met966Ile
NP_001394871.1:p.Met961Ile
NP_001394872.1:p.Met960Ile
NP_001394873.1:p.Met961Ile
NP_001394874.1:p.Met961Ile
NP_001394875.1:p.Met897Ile
NP_001394876.1:p.Met897Ile
NP_001394877.1:p.Met897Ile
NP_001394878.1:p.Met897Ile
NP_001394879.1:p.Met897Ile
NP_001394880.1:p.Met897Ile
NP_001394881.1:p.Met897Ile
NP_001394882.1:p.Met897Ile
NP_001394883.1:p.Met896Ile
NP_001394884.1:p.Met896Ile
NP_001394885.1:p.Met896Ile
NP_001394886.1:p.Met897Ile
NP_001394887.1:p.Met896Ile
NP_001394888.1:p.Met881Ile
NP_001394889.1:p.Met881Ile
NP_001394891.1:p.Met880Ile
NP_001394892.1:p.Met881Ile
NP_001394893.1:p.Met960Ile
NP_001394894.1:p.Met840Ile
NP_001394895.1:p.Met712Ile
NP_001394896.1:p.Met712Ile
NP_009225.1:p.Met1008Ile
NP_009225.1:p.Met1008Ile
NP_009228.2:p.Met961Ile
NP_009231.2:p.Met1008Ile
LRG_292t1:c.3024G>A
LRG_292:g.125477G>A
LRG_292p1:p.Met1008Ile
NC_000017.10:g.41244524C>T
NM_007294.3:c.3024G>A
NM_007294.4:c.3024G>A
NM_007300.3:c.3024G>A
NR_027676.1:n.3160G>A
P38398:p.Met1008Ile
U14680.1:n.3143G>A
p.M1008I

Nucleotide change:

3143G>A

Protein change:

M1005I

Links:

BRCA1-HCI: BRCA1_00020; UniProtKB: P38398#VAR_007777; dbSNP: rs1800704

NCBI 1000 Genomes Browser:

rs1800704

Molecular consequence:

NM_001407968.1:c.788-368G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-368G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1484G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1475G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.2943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.2943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.2943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.2943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.2946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2820G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2814G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2811G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2757G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2901G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2898G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2688G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2688G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2688G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2688G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2643G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2643G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2640G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2643G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2880G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2520G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2136G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2136G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2883G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3024G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076064	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000267854	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Apr 25, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002025966	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 16, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000076064

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

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

SCV000267854

Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Apr 25, 2016)

germline

clinical testing

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

SCV002025966

National Health Laboratory Service, Universitas Academic Hospital and University of the Free State

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Nov 16, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

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

Details of each submission

From Invitae, SCV000076064.16

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

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

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV000267854.1

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

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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002025966.1

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

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

Last Updated: Jun 2, 2024

ClinVar

Relating variation to medicine