NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) AND not specified

Germline classification:: Benign/Likely benign (7 submissions)
Last evaluated:: Aug 15, 2023
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:: RCV000120275.34

Allele description [Variation Report for NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)]

NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)

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.3022A>G (p.Met1008Val)

Other names:

p.M1008V:ATG>GTG; 3141A>G; NP_009225.1:p.Met1008Val

HGVS:

NC_000017.11:g.43092509T>C
NG_005905.2:g.125475A>G
NM_001407571.1:c.2809A>G
NM_001407581.1:c.3022A>G
NM_001407582.1:c.3022A>G
NM_001407583.1:c.3022A>G
NM_001407585.1:c.3022A>G
NM_001407587.1:c.3019A>G
NM_001407590.1:c.3019A>G
NM_001407591.1:c.3019A>G
NM_001407593.1:c.3022A>G
NM_001407594.1:c.3022A>G
NM_001407596.1:c.3022A>G
NM_001407597.1:c.3022A>G
NM_001407598.1:c.3022A>G
NM_001407602.1:c.3022A>G
NM_001407603.1:c.3022A>G
NM_001407605.1:c.3022A>G
NM_001407610.1:c.3019A>G
NM_001407611.1:c.3019A>G
NM_001407612.1:c.3019A>G
NM_001407613.1:c.3019A>G
NM_001407614.1:c.3019A>G
NM_001407615.1:c.3019A>G
NM_001407616.1:c.3022A>G
NM_001407617.1:c.3022A>G
NM_001407618.1:c.3022A>G
NM_001407619.1:c.3022A>G
NM_001407620.1:c.3022A>G
NM_001407621.1:c.3022A>G
NM_001407622.1:c.3022A>G
NM_001407623.1:c.3022A>G
NM_001407624.1:c.3022A>G
NM_001407625.1:c.3022A>G
NM_001407626.1:c.3022A>G
NM_001407627.1:c.3019A>G
NM_001407628.1:c.3019A>G
NM_001407629.1:c.3019A>G
NM_001407630.1:c.3019A>G
NM_001407631.1:c.3019A>G
NM_001407632.1:c.3019A>G
NM_001407633.1:c.3019A>G
NM_001407634.1:c.3019A>G
NM_001407635.1:c.3019A>G
NM_001407636.1:c.3019A>G
NM_001407637.1:c.3019A>G
NM_001407638.1:c.3019A>G
NM_001407639.1:c.3022A>G
NM_001407640.1:c.3022A>G
NM_001407641.1:c.3022A>G
NM_001407642.1:c.3022A>G
NM_001407644.1:c.3019A>G
NM_001407645.1:c.3019A>G
NM_001407646.1:c.3013A>G
NM_001407647.1:c.3013A>G
NM_001407648.1:c.2899A>G
NM_001407649.1:c.2896A>G
NM_001407652.1:c.3022A>G
NM_001407653.1:c.2944A>G
NM_001407654.1:c.2944A>G
NM_001407655.1:c.2944A>G
NM_001407656.1:c.2944A>G
NM_001407657.1:c.2944A>G
NM_001407658.1:c.2944A>G
NM_001407659.1:c.2941A>G
NM_001407660.1:c.2941A>G
NM_001407661.1:c.2941A>G
NM_001407662.1:c.2941A>G
NM_001407663.1:c.2944A>G
NM_001407664.1:c.2899A>G
NM_001407665.1:c.2899A>G
NM_001407666.1:c.2899A>G
NM_001407667.1:c.2899A>G
NM_001407668.1:c.2899A>G
NM_001407669.1:c.2899A>G
NM_001407670.1:c.2896A>G
NM_001407671.1:c.2896A>G
NM_001407672.1:c.2896A>G
NM_001407673.1:c.2896A>G
NM_001407674.1:c.2899A>G
NM_001407675.1:c.2899A>G
NM_001407676.1:c.2899A>G
NM_001407677.1:c.2899A>G
NM_001407678.1:c.2899A>G
NM_001407679.1:c.2899A>G
NM_001407680.1:c.2899A>G
NM_001407681.1:c.2899A>G
NM_001407682.1:c.2899A>G
NM_001407683.1:c.2899A>G
NM_001407684.1:c.3022A>G
NM_001407685.1:c.2896A>G
NM_001407686.1:c.2896A>G
NM_001407687.1:c.2896A>G
NM_001407688.1:c.2896A>G
NM_001407689.1:c.2896A>G
NM_001407690.1:c.2896A>G
NM_001407691.1:c.2896A>G
NM_001407692.1:c.2881A>G
NM_001407694.1:c.2881A>G
NM_001407695.1:c.2881A>G
NM_001407696.1:c.2881A>G
NM_001407697.1:c.2881A>G
NM_001407698.1:c.2881A>G
NM_001407724.1:c.2881A>G
NM_001407725.1:c.2881A>G
NM_001407726.1:c.2881A>G
NM_001407727.1:c.2881A>G
NM_001407728.1:c.2881A>G
NM_001407729.1:c.2881A>G
NM_001407730.1:c.2881A>G
NM_001407731.1:c.2881A>G
NM_001407732.1:c.2881A>G
NM_001407733.1:c.2881A>G
NM_001407734.1:c.2881A>G
NM_001407735.1:c.2881A>G
NM_001407736.1:c.2881A>G
NM_001407737.1:c.2881A>G
NM_001407738.1:c.2881A>G
NM_001407739.1:c.2881A>G
NM_001407740.1:c.2878A>G
NM_001407741.1:c.2878A>G
NM_001407742.1:c.2878A>G
NM_001407743.1:c.2878A>G
NM_001407744.1:c.2878A>G
NM_001407745.1:c.2878A>G
NM_001407746.1:c.2878A>G
NM_001407747.1:c.2878A>G
NM_001407748.1:c.2878A>G
NM_001407749.1:c.2878A>G
NM_001407750.1:c.2881A>G
NM_001407751.1:c.2881A>G
NM_001407752.1:c.2881A>G
NM_001407838.1:c.2878A>G
NM_001407839.1:c.2878A>G
NM_001407841.1:c.2878A>G
NM_001407842.1:c.2878A>G
NM_001407843.1:c.2878A>G
NM_001407844.1:c.2878A>G
NM_001407845.1:c.2878A>G
NM_001407846.1:c.2878A>G
NM_001407847.1:c.2878A>G
NM_001407848.1:c.2878A>G
NM_001407849.1:c.2878A>G
NM_001407850.1:c.2881A>G
NM_001407851.1:c.2881A>G
NM_001407852.1:c.2881A>G
NM_001407853.1:c.2809A>G
NM_001407854.1:c.3022A>G
NM_001407858.1:c.3022A>G
NM_001407859.1:c.3022A>G
NM_001407860.1:c.3019A>G
NM_001407861.1:c.3019A>G
NM_001407862.1:c.2821A>G
NM_001407863.1:c.2899A>G
NM_001407874.1:c.2818A>G
NM_001407875.1:c.2818A>G
NM_001407879.1:c.2812A>G
NM_001407881.1:c.2812A>G
NM_001407882.1:c.2812A>G
NM_001407884.1:c.2812A>G
NM_001407885.1:c.2812A>G
NM_001407886.1:c.2812A>G
NM_001407887.1:c.2812A>G
NM_001407889.1:c.2812A>G
NM_001407894.1:c.2809A>G
NM_001407895.1:c.2809A>G
NM_001407896.1:c.2809A>G
NM_001407897.1:c.2809A>G
NM_001407898.1:c.2809A>G
NM_001407899.1:c.2809A>G
NM_001407900.1:c.2812A>G
NM_001407902.1:c.2812A>G
NM_001407904.1:c.2812A>G
NM_001407906.1:c.2812A>G
NM_001407907.1:c.2812A>G
NM_001407908.1:c.2812A>G
NM_001407909.1:c.2812A>G
NM_001407910.1:c.2812A>G
NM_001407915.1:c.2809A>G
NM_001407916.1:c.2809A>G
NM_001407917.1:c.2809A>G
NM_001407918.1:c.2809A>G
NM_001407919.1:c.2899A>G
NM_001407920.1:c.2758A>G
NM_001407921.1:c.2758A>G
NM_001407922.1:c.2758A>G
NM_001407923.1:c.2758A>G
NM_001407924.1:c.2758A>G
NM_001407925.1:c.2758A>G
NM_001407926.1:c.2758A>G
NM_001407927.1:c.2758A>G
NM_001407928.1:c.2758A>G
NM_001407929.1:c.2758A>G
NM_001407930.1:c.2755A>G
NM_001407931.1:c.2755A>G
NM_001407932.1:c.2755A>G
NM_001407933.1:c.2758A>G
NM_001407934.1:c.2755A>G
NM_001407935.1:c.2758A>G
NM_001407936.1:c.2755A>G
NM_001407937.1:c.2899A>G
NM_001407938.1:c.2899A>G
NM_001407939.1:c.2899A>G
NM_001407940.1:c.2896A>G
NM_001407941.1:c.2896A>G
NM_001407942.1:c.2881A>G
NM_001407943.1:c.2878A>G
NM_001407944.1:c.2881A>G
NM_001407945.1:c.2881A>G
NM_001407946.1:c.2689A>G
NM_001407947.1:c.2689A>G
NM_001407948.1:c.2689A>G
NM_001407949.1:c.2689A>G
NM_001407950.1:c.2689A>G
NM_001407951.1:c.2689A>G
NM_001407952.1:c.2689A>G
NM_001407953.1:c.2689A>G
NM_001407954.1:c.2686A>G
NM_001407955.1:c.2686A>G
NM_001407956.1:c.2686A>G
NM_001407957.1:c.2689A>G
NM_001407958.1:c.2686A>G
NM_001407959.1:c.2641A>G
NM_001407960.1:c.2641A>G
NM_001407962.1:c.2638A>G
NM_001407963.1:c.2641A>G
NM_001407964.1:c.2878A>G
NM_001407965.1:c.2518A>G
NM_001407966.1:c.2134A>G
NM_001407967.1:c.2134A>G
NM_001407968.1:c.788-370A>G
NM_001407969.1:c.788-370A>G
NM_001407970.1:c.788-1477A>G
NM_001407971.1:c.788-1477A>G
NM_001407972.1:c.785-1477A>G
NM_001407973.1:c.788-1477A>G
NM_001407974.1:c.788-1477A>G
NM_001407975.1:c.788-1477A>G
NM_001407976.1:c.788-1477A>G
NM_001407977.1:c.788-1477A>G
NM_001407978.1:c.788-1477A>G
NM_001407979.1:c.788-1477A>G
NM_001407980.1:c.788-1477A>G
NM_001407981.1:c.788-1477A>G
NM_001407982.1:c.788-1477A>G
NM_001407983.1:c.788-1477A>G
NM_001407984.1:c.785-1477A>G
NM_001407985.1:c.785-1477A>G
NM_001407986.1:c.785-1477A>G
NM_001407990.1:c.788-1477A>G
NM_001407991.1:c.785-1477A>G
NM_001407992.1:c.785-1477A>G
NM_001407993.1:c.788-1477A>G
NM_001408392.1:c.785-1477A>G
NM_001408396.1:c.785-1477A>G
NM_001408397.1:c.785-1477A>G
NM_001408398.1:c.785-1477A>G
NM_001408399.1:c.785-1477A>G
NM_001408400.1:c.785-1477A>G
NM_001408401.1:c.785-1477A>G
NM_001408402.1:c.785-1477A>G
NM_001408403.1:c.788-1477A>G
NM_001408404.1:c.788-1477A>G
NM_001408406.1:c.791-1486A>G
NM_001408407.1:c.785-1477A>G
NM_001408408.1:c.779-1477A>G
NM_001408409.1:c.710-1477A>G
NM_001408410.1:c.647-1477A>G
NM_001408411.1:c.710-1477A>G
NM_001408412.1:c.710-1477A>G
NM_001408413.1:c.707-1477A>G
NM_001408414.1:c.710-1477A>G
NM_001408415.1:c.710-1477A>G
NM_001408416.1:c.707-1477A>G
NM_001408418.1:c.671-1477A>G
NM_001408419.1:c.671-1477A>G
NM_001408420.1:c.671-1477A>G
NM_001408421.1:c.668-1477A>G
NM_001408422.1:c.671-1477A>G
NM_001408423.1:c.671-1477A>G
NM_001408424.1:c.668-1477A>G
NM_001408425.1:c.665-1477A>G
NM_001408426.1:c.665-1477A>G
NM_001408427.1:c.665-1477A>G
NM_001408428.1:c.665-1477A>G
NM_001408429.1:c.665-1477A>G
NM_001408430.1:c.665-1477A>G
NM_001408431.1:c.668-1477A>G
NM_001408432.1:c.662-1477A>G
NM_001408433.1:c.662-1477A>G
NM_001408434.1:c.662-1477A>G
NM_001408435.1:c.662-1477A>G
NM_001408436.1:c.665-1477A>G
NM_001408437.1:c.665-1477A>G
NM_001408438.1:c.665-1477A>G
NM_001408439.1:c.665-1477A>G
NM_001408440.1:c.665-1477A>G
NM_001408441.1:c.665-1477A>G
NM_001408442.1:c.665-1477A>G
NM_001408443.1:c.665-1477A>G
NM_001408444.1:c.665-1477A>G
NM_001408445.1:c.662-1477A>G
NM_001408446.1:c.662-1477A>G
NM_001408447.1:c.662-1477A>G
NM_001408448.1:c.662-1477A>G
NM_001408450.1:c.662-1477A>G
NM_001408451.1:c.653-1477A>G
NM_001408452.1:c.647-1477A>G
NM_001408453.1:c.647-1477A>G
NM_001408454.1:c.647-1477A>G
NM_001408455.1:c.647-1477A>G
NM_001408456.1:c.647-1477A>G
NM_001408457.1:c.647-1477A>G
NM_001408458.1:c.647-1477A>G
NM_001408459.1:c.647-1477A>G
NM_001408460.1:c.647-1477A>G
NM_001408461.1:c.647-1477A>G
NM_001408462.1:c.644-1477A>G
NM_001408463.1:c.644-1477A>G
NM_001408464.1:c.644-1477A>G
NM_001408465.1:c.644-1477A>G
NM_001408466.1:c.647-1477A>G
NM_001408467.1:c.647-1477A>G
NM_001408468.1:c.644-1477A>G
NM_001408469.1:c.647-1477A>G
NM_001408470.1:c.644-1477A>G
NM_001408472.1:c.788-1477A>G
NM_001408473.1:c.785-1477A>G
NM_001408474.1:c.587-1477A>G
NM_001408475.1:c.584-1477A>G
NM_001408476.1:c.587-1477A>G
NM_001408478.1:c.578-1477A>G
NM_001408479.1:c.578-1477A>G
NM_001408480.1:c.578-1477A>G
NM_001408481.1:c.578-1477A>G
NM_001408482.1:c.578-1477A>G
NM_001408483.1:c.578-1477A>G
NM_001408484.1:c.578-1477A>G
NM_001408485.1:c.578-1477A>G
NM_001408489.1:c.578-1477A>G
NM_001408490.1:c.575-1477A>G
NM_001408491.1:c.575-1477A>G
NM_001408492.1:c.578-1477A>G
NM_001408493.1:c.575-1477A>G
NM_001408494.1:c.548-1477A>G
NM_001408495.1:c.545-1477A>G
NM_001408496.1:c.524-1477A>G
NM_001408497.1:c.524-1477A>G
NM_001408498.1:c.524-1477A>G
NM_001408499.1:c.524-1477A>G
NM_001408500.1:c.524-1477A>G
NM_001408501.1:c.524-1477A>G
NM_001408502.1:c.455-1477A>G
NM_001408503.1:c.521-1477A>G
NM_001408504.1:c.521-1477A>G
NM_001408505.1:c.521-1477A>G
NM_001408506.1:c.461-1477A>G
NM_001408507.1:c.461-1477A>G
NM_001408508.1:c.452-1477A>G
NM_001408509.1:c.452-1477A>G
NM_001408510.1:c.407-1477A>G
NM_001408511.1:c.404-1477A>G
NM_001408512.1:c.284-1477A>G
NM_001408513.1:c.578-1477A>G
NM_001408514.1:c.578-1477A>G
NM_007294.4:c.3022A>GMANE SELECT
NM_007297.4:c.2881A>G
NM_007298.4:c.788-1477A>G
NM_007299.4:c.788-1477A>G
NM_007300.4:c.3022A>G
NP_001394500.1:p.Met937Val
NP_001394510.1:p.Met1008Val
NP_001394511.1:p.Met1008Val
NP_001394512.1:p.Met1008Val
NP_001394514.1:p.Met1008Val
NP_001394516.1:p.Met1007Val
NP_001394519.1:p.Met1007Val
NP_001394520.1:p.Met1007Val
NP_001394522.1:p.Met1008Val
NP_001394523.1:p.Met1008Val
NP_001394525.1:p.Met1008Val
NP_001394526.1:p.Met1008Val
NP_001394527.1:p.Met1008Val
NP_001394531.1:p.Met1008Val
NP_001394532.1:p.Met1008Val
NP_001394534.1:p.Met1008Val
NP_001394539.1:p.Met1007Val
NP_001394540.1:p.Met1007Val
NP_001394541.1:p.Met1007Val
NP_001394542.1:p.Met1007Val
NP_001394543.1:p.Met1007Val
NP_001394544.1:p.Met1007Val
NP_001394545.1:p.Met1008Val
NP_001394546.1:p.Met1008Val
NP_001394547.1:p.Met1008Val
NP_001394548.1:p.Met1008Val
NP_001394549.1:p.Met1008Val
NP_001394550.1:p.Met1008Val
NP_001394551.1:p.Met1008Val
NP_001394552.1:p.Met1008Val
NP_001394553.1:p.Met1008Val
NP_001394554.1:p.Met1008Val
NP_001394555.1:p.Met1008Val
NP_001394556.1:p.Met1007Val
NP_001394557.1:p.Met1007Val
NP_001394558.1:p.Met1007Val
NP_001394559.1:p.Met1007Val
NP_001394560.1:p.Met1007Val
NP_001394561.1:p.Met1007Val
NP_001394562.1:p.Met1007Val
NP_001394563.1:p.Met1007Val
NP_001394564.1:p.Met1007Val
NP_001394565.1:p.Met1007Val
NP_001394566.1:p.Met1007Val
NP_001394567.1:p.Met1007Val
NP_001394568.1:p.Met1008Val
NP_001394569.1:p.Met1008Val
NP_001394570.1:p.Met1008Val
NP_001394571.1:p.Met1008Val
NP_001394573.1:p.Met1007Val
NP_001394574.1:p.Met1007Val
NP_001394575.1:p.Met1005Val
NP_001394576.1:p.Met1005Val
NP_001394577.1:p.Met967Val
NP_001394578.1:p.Met966Val
NP_001394581.1:p.Met1008Val
NP_001394582.1:p.Met982Val
NP_001394583.1:p.Met982Val
NP_001394584.1:p.Met982Val
NP_001394585.1:p.Met982Val
NP_001394586.1:p.Met982Val
NP_001394587.1:p.Met982Val
NP_001394588.1:p.Met981Val
NP_001394589.1:p.Met981Val
NP_001394590.1:p.Met981Val
NP_001394591.1:p.Met981Val
NP_001394592.1:p.Met982Val
NP_001394593.1:p.Met967Val
NP_001394594.1:p.Met967Val
NP_001394595.1:p.Met967Val
NP_001394596.1:p.Met967Val
NP_001394597.1:p.Met967Val
NP_001394598.1:p.Met967Val
NP_001394599.1:p.Met966Val
NP_001394600.1:p.Met966Val
NP_001394601.1:p.Met966Val
NP_001394602.1:p.Met966Val
NP_001394603.1:p.Met967Val
NP_001394604.1:p.Met967Val
NP_001394605.1:p.Met967Val
NP_001394606.1:p.Met967Val
NP_001394607.1:p.Met967Val
NP_001394608.1:p.Met967Val
NP_001394609.1:p.Met967Val
NP_001394610.1:p.Met967Val
NP_001394611.1:p.Met967Val
NP_001394612.1:p.Met967Val
NP_001394613.1:p.Met1008Val
NP_001394614.1:p.Met966Val
NP_001394615.1:p.Met966Val
NP_001394616.1:p.Met966Val
NP_001394617.1:p.Met966Val
NP_001394618.1:p.Met966Val
NP_001394619.1:p.Met966Val
NP_001394620.1:p.Met966Val
NP_001394621.1:p.Met961Val
NP_001394623.1:p.Met961Val
NP_001394624.1:p.Met961Val
NP_001394625.1:p.Met961Val
NP_001394626.1:p.Met961Val
NP_001394627.1:p.Met961Val
NP_001394653.1:p.Met961Val
NP_001394654.1:p.Met961Val
NP_001394655.1:p.Met961Val
NP_001394656.1:p.Met961Val
NP_001394657.1:p.Met961Val
NP_001394658.1:p.Met961Val
NP_001394659.1:p.Met961Val
NP_001394660.1:p.Met961Val
NP_001394661.1:p.Met961Val
NP_001394662.1:p.Met961Val
NP_001394663.1:p.Met961Val
NP_001394664.1:p.Met961Val
NP_001394665.1:p.Met961Val
NP_001394666.1:p.Met961Val
NP_001394667.1:p.Met961Val
NP_001394668.1:p.Met961Val
NP_001394669.1:p.Met960Val
NP_001394670.1:p.Met960Val
NP_001394671.1:p.Met960Val
NP_001394672.1:p.Met960Val
NP_001394673.1:p.Met960Val
NP_001394674.1:p.Met960Val
NP_001394675.1:p.Met960Val
NP_001394676.1:p.Met960Val
NP_001394677.1:p.Met960Val
NP_001394678.1:p.Met960Val
NP_001394679.1:p.Met961Val
NP_001394680.1:p.Met961Val
NP_001394681.1:p.Met961Val
NP_001394767.1:p.Met960Val
NP_001394768.1:p.Met960Val
NP_001394770.1:p.Met960Val
NP_001394771.1:p.Met960Val
NP_001394772.1:p.Met960Val
NP_001394773.1:p.Met960Val
NP_001394774.1:p.Met960Val
NP_001394775.1:p.Met960Val
NP_001394776.1:p.Met960Val
NP_001394777.1:p.Met960Val
NP_001394778.1:p.Met960Val
NP_001394779.1:p.Met961Val
NP_001394780.1:p.Met961Val
NP_001394781.1:p.Met961Val
NP_001394782.1:p.Met937Val
NP_001394783.1:p.Met1008Val
NP_001394787.1:p.Met1008Val
NP_001394788.1:p.Met1008Val
NP_001394789.1:p.Met1007Val
NP_001394790.1:p.Met1007Val
NP_001394791.1:p.Met941Val
NP_001394792.1:p.Met967Val
NP_001394803.1:p.Met940Val
NP_001394804.1:p.Met940Val
NP_001394808.1:p.Met938Val
NP_001394810.1:p.Met938Val
NP_001394811.1:p.Met938Val
NP_001394813.1:p.Met938Val
NP_001394814.1:p.Met938Val
NP_001394815.1:p.Met938Val
NP_001394816.1:p.Met938Val
NP_001394818.1:p.Met938Val
NP_001394823.1:p.Met937Val
NP_001394824.1:p.Met937Val
NP_001394825.1:p.Met937Val
NP_001394826.1:p.Met937Val
NP_001394827.1:p.Met937Val
NP_001394828.1:p.Met937Val
NP_001394829.1:p.Met938Val
NP_001394831.1:p.Met938Val
NP_001394833.1:p.Met938Val
NP_001394835.1:p.Met938Val
NP_001394836.1:p.Met938Val
NP_001394837.1:p.Met938Val
NP_001394838.1:p.Met938Val
NP_001394839.1:p.Met938Val
NP_001394844.1:p.Met937Val
NP_001394845.1:p.Met937Val
NP_001394846.1:p.Met937Val
NP_001394847.1:p.Met937Val
NP_001394848.1:p.Met967Val
NP_001394849.1:p.Met920Val
NP_001394850.1:p.Met920Val
NP_001394851.1:p.Met920Val
NP_001394852.1:p.Met920Val
NP_001394853.1:p.Met920Val
NP_001394854.1:p.Met920Val
NP_001394855.1:p.Met920Val
NP_001394856.1:p.Met920Val
NP_001394857.1:p.Met920Val
NP_001394858.1:p.Met920Val
NP_001394859.1:p.Met919Val
NP_001394860.1:p.Met919Val
NP_001394861.1:p.Met919Val
NP_001394862.1:p.Met920Val
NP_001394863.1:p.Met919Val
NP_001394864.1:p.Met920Val
NP_001394865.1:p.Met919Val
NP_001394866.1:p.Met967Val
NP_001394867.1:p.Met967Val
NP_001394868.1:p.Met967Val
NP_001394869.1:p.Met966Val
NP_001394870.1:p.Met966Val
NP_001394871.1:p.Met961Val
NP_001394872.1:p.Met960Val
NP_001394873.1:p.Met961Val
NP_001394874.1:p.Met961Val
NP_001394875.1:p.Met897Val
NP_001394876.1:p.Met897Val
NP_001394877.1:p.Met897Val
NP_001394878.1:p.Met897Val
NP_001394879.1:p.Met897Val
NP_001394880.1:p.Met897Val
NP_001394881.1:p.Met897Val
NP_001394882.1:p.Met897Val
NP_001394883.1:p.Met896Val
NP_001394884.1:p.Met896Val
NP_001394885.1:p.Met896Val
NP_001394886.1:p.Met897Val
NP_001394887.1:p.Met896Val
NP_001394888.1:p.Met881Val
NP_001394889.1:p.Met881Val
NP_001394891.1:p.Met880Val
NP_001394892.1:p.Met881Val
NP_001394893.1:p.Met960Val
NP_001394894.1:p.Met840Val
NP_001394895.1:p.Met712Val
NP_001394896.1:p.Met712Val
NP_009225.1:p.Met1008Val
NP_009225.1:p.Met1008Val
NP_009228.2:p.Met961Val
NP_009231.2:p.Met1008Val
LRG_292t1:c.3022A>G
LRG_292:g.125475A>G
LRG_292p1:p.Met1008Val
NC_000017.10:g.41244526T>C
NM_007294.3:c.3022A>G
NM_007294.4:c.3022A>G
NR_027676.1:n.3158A>G
U14680.1:n.3141A>G
p.M1008V

Protein change:

M1005V

Links:

BRCA1-HCI: BRCA1_00019; dbSNP: rs56321129

NCBI 1000 Genomes Browser:

rs56321129

Molecular consequence:

NM_001407968.1:c.788-370A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-370A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1486A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1477A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.2941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.2941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.2941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.2941A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.2944A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3019A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2821A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2818A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2818A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2812A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2809A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2758A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2755A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2899A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2689A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2686A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2638A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2878A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2518A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2134A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3022A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Human DNA sequence from clone CH502-31G15 on chromosome 6, complete sequence
Human DNA sequence from clone CH502-31G15 on chromosome 6, complete sequence
gi|21655350|emb|AL663093.10|

Nucleotide
Human DNA sequence from clone CH502-92J3 on chromosome 6, complete sequence
Human DNA sequence from clone CH502-92J3 on chromosome 6, complete sequence
gi|21314871|emb|AL732432.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084427	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000224984	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Dec 5, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001156829	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Likely benign (Aug 29, 2018)	germline	clinical testing	Citation Link,
SCV001951086	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001970350	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002070809	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (May 30, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002551009	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.

Hum Mutat. 2012 Jan;33(1):8-21. doi: 10.1002/humu.21627. Epub 2011 Nov 3. Review.

PubMed [citation]

PMID:: 21990134
PMCID:: PMC3242438

See all PubMed Citations (3)

Details of each submission

From ITMI, SCV000084427.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0.0116	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0007	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000224984.5

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001156829.1

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

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001951086.1

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

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001970350.1

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

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

From Genetic Services Laboratory, University of Chicago, SCV002070809.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002551009.4

#	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

Last Updated: Nov 3, 2024

Relating variation to medicine