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NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) AND Malignant tumor of breast

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353548.10

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:
1

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591419Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

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no assertion criteria provided
Benignunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591419.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The BRCA1 p.Met1008Val variant was identified in 12 of 114808 proband chromosomes (frequency: 0.0001) from individuals or families with breast, ovarian and prostate cancer (Bodian 2014, Dorschner 2013, Judkins 2005, Zuhlke 2004). The variant was also identified in dbSNP (ID: rs56321129) “With untested allele”, with a minor allele frequency of 0.0004 (1000 Genomes Project), NHLBI Exome Sequencing Project (Exome Variant Server), HGMD, LOVD, the ClinVar database (classified as a bening variant) the BIC database (17X with no clinical importance), and UMD (6X as a neutral variant). The variant was identified by the Exome Variant Server project in 10 of 4406 African American alleles (frequency: 0.002), although this low number of observations and low frequency is not substantive enough to determine the prevalence of the variant in the general population and its relationship to disease. The p.Met1008 residue is not conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein. However, this information is not predictive enough to rule out pathogenicity. The p.Met1008 variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. Two studies classified the variant as VUS (Dorschner 2013, Judkins 2005). Studies by Abkevich (2004) and Lindor (2012) identified this variant as likely to be neutral or of little clinical significance. Furthermore, functional studies (Judkins 2005, Tavtigian 2006) observed the variant in trans with known deleterious mutations and stated that variants of uncertain clinical significance found to reside in trans with known deleterious mutations impart reduced risk for cancer. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024