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NM_007294.4(BRCA1):c.3050A>C (p.Glu1017Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003177133.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3050A>C (p.Glu1017Ala)]

NM_007294.4(BRCA1):c.3050A>C (p.Glu1017Ala)

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.3050A>C (p.Glu1017Ala)
HGVS:
  • NC_000017.11:g.43092481T>G
  • NG_005905.2:g.125503A>C
  • NM_001407571.1:c.2837A>C
  • NM_001407581.1:c.3050A>C
  • NM_001407582.1:c.3050A>C
  • NM_001407583.1:c.3050A>C
  • NM_001407585.1:c.3050A>C
  • NM_001407587.1:c.3047A>C
  • NM_001407590.1:c.3047A>C
  • NM_001407591.1:c.3047A>C
  • NM_001407593.1:c.3050A>C
  • NM_001407594.1:c.3050A>C
  • NM_001407596.1:c.3050A>C
  • NM_001407597.1:c.3050A>C
  • NM_001407598.1:c.3050A>C
  • NM_001407602.1:c.3050A>C
  • NM_001407603.1:c.3050A>C
  • NM_001407605.1:c.3050A>C
  • NM_001407610.1:c.3047A>C
  • NM_001407611.1:c.3047A>C
  • NM_001407612.1:c.3047A>C
  • NM_001407613.1:c.3047A>C
  • NM_001407614.1:c.3047A>C
  • NM_001407615.1:c.3047A>C
  • NM_001407616.1:c.3050A>C
  • NM_001407617.1:c.3050A>C
  • NM_001407618.1:c.3050A>C
  • NM_001407619.1:c.3050A>C
  • NM_001407620.1:c.3050A>C
  • NM_001407621.1:c.3050A>C
  • NM_001407622.1:c.3050A>C
  • NM_001407623.1:c.3050A>C
  • NM_001407624.1:c.3050A>C
  • NM_001407625.1:c.3050A>C
  • NM_001407626.1:c.3050A>C
  • NM_001407627.1:c.3047A>C
  • NM_001407628.1:c.3047A>C
  • NM_001407629.1:c.3047A>C
  • NM_001407630.1:c.3047A>C
  • NM_001407631.1:c.3047A>C
  • NM_001407632.1:c.3047A>C
  • NM_001407633.1:c.3047A>C
  • NM_001407634.1:c.3047A>C
  • NM_001407635.1:c.3047A>C
  • NM_001407636.1:c.3047A>C
  • NM_001407637.1:c.3047A>C
  • NM_001407638.1:c.3047A>C
  • NM_001407639.1:c.3050A>C
  • NM_001407640.1:c.3050A>C
  • NM_001407641.1:c.3050A>C
  • NM_001407642.1:c.3050A>C
  • NM_001407644.1:c.3047A>C
  • NM_001407645.1:c.3047A>C
  • NM_001407646.1:c.3041A>C
  • NM_001407647.1:c.3041A>C
  • NM_001407648.1:c.2927A>C
  • NM_001407649.1:c.2924A>C
  • NM_001407652.1:c.3050A>C
  • NM_001407653.1:c.2972A>C
  • NM_001407654.1:c.2972A>C
  • NM_001407655.1:c.2972A>C
  • NM_001407656.1:c.2972A>C
  • NM_001407657.1:c.2972A>C
  • NM_001407658.1:c.2972A>C
  • NM_001407659.1:c.2969A>C
  • NM_001407660.1:c.2969A>C
  • NM_001407661.1:c.2969A>C
  • NM_001407662.1:c.2969A>C
  • NM_001407663.1:c.2972A>C
  • NM_001407664.1:c.2927A>C
  • NM_001407665.1:c.2927A>C
  • NM_001407666.1:c.2927A>C
  • NM_001407667.1:c.2927A>C
  • NM_001407668.1:c.2927A>C
  • NM_001407669.1:c.2927A>C
  • NM_001407670.1:c.2924A>C
  • NM_001407671.1:c.2924A>C
  • NM_001407672.1:c.2924A>C
  • NM_001407673.1:c.2924A>C
  • NM_001407674.1:c.2927A>C
  • NM_001407675.1:c.2927A>C
  • NM_001407676.1:c.2927A>C
  • NM_001407677.1:c.2927A>C
  • NM_001407678.1:c.2927A>C
  • NM_001407679.1:c.2927A>C
  • NM_001407680.1:c.2927A>C
  • NM_001407681.1:c.2927A>C
  • NM_001407682.1:c.2927A>C
  • NM_001407683.1:c.2927A>C
  • NM_001407684.1:c.3050A>C
  • NM_001407685.1:c.2924A>C
  • NM_001407686.1:c.2924A>C
  • NM_001407687.1:c.2924A>C
  • NM_001407688.1:c.2924A>C
  • NM_001407689.1:c.2924A>C
  • NM_001407690.1:c.2924A>C
  • NM_001407691.1:c.2924A>C
  • NM_001407692.1:c.2909A>C
  • NM_001407694.1:c.2909A>C
  • NM_001407695.1:c.2909A>C
  • NM_001407696.1:c.2909A>C
  • NM_001407697.1:c.2909A>C
  • NM_001407698.1:c.2909A>C
  • NM_001407724.1:c.2909A>C
  • NM_001407725.1:c.2909A>C
  • NM_001407726.1:c.2909A>C
  • NM_001407727.1:c.2909A>C
  • NM_001407728.1:c.2909A>C
  • NM_001407729.1:c.2909A>C
  • NM_001407730.1:c.2909A>C
  • NM_001407731.1:c.2909A>C
  • NM_001407732.1:c.2909A>C
  • NM_001407733.1:c.2909A>C
  • NM_001407734.1:c.2909A>C
  • NM_001407735.1:c.2909A>C
  • NM_001407736.1:c.2909A>C
  • NM_001407737.1:c.2909A>C
  • NM_001407738.1:c.2909A>C
  • NM_001407739.1:c.2909A>C
  • NM_001407740.1:c.2906A>C
  • NM_001407741.1:c.2906A>C
  • NM_001407742.1:c.2906A>C
  • NM_001407743.1:c.2906A>C
  • NM_001407744.1:c.2906A>C
  • NM_001407745.1:c.2906A>C
  • NM_001407746.1:c.2906A>C
  • NM_001407747.1:c.2906A>C
  • NM_001407748.1:c.2906A>C
  • NM_001407749.1:c.2906A>C
  • NM_001407750.1:c.2909A>C
  • NM_001407751.1:c.2909A>C
  • NM_001407752.1:c.2909A>C
  • NM_001407838.1:c.2906A>C
  • NM_001407839.1:c.2906A>C
  • NM_001407841.1:c.2906A>C
  • NM_001407842.1:c.2906A>C
  • NM_001407843.1:c.2906A>C
  • NM_001407844.1:c.2906A>C
  • NM_001407845.1:c.2906A>C
  • NM_001407846.1:c.2906A>C
  • NM_001407847.1:c.2906A>C
  • NM_001407848.1:c.2906A>C
  • NM_001407849.1:c.2906A>C
  • NM_001407850.1:c.2909A>C
  • NM_001407851.1:c.2909A>C
  • NM_001407852.1:c.2909A>C
  • NM_001407853.1:c.2837A>C
  • NM_001407854.1:c.3050A>C
  • NM_001407858.1:c.3050A>C
  • NM_001407859.1:c.3050A>C
  • NM_001407860.1:c.3047A>C
  • NM_001407861.1:c.3047A>C
  • NM_001407862.1:c.2849A>C
  • NM_001407863.1:c.2927A>C
  • NM_001407874.1:c.2846A>C
  • NM_001407875.1:c.2846A>C
  • NM_001407879.1:c.2840A>C
  • NM_001407881.1:c.2840A>C
  • NM_001407882.1:c.2840A>C
  • NM_001407884.1:c.2840A>C
  • NM_001407885.1:c.2840A>C
  • NM_001407886.1:c.2840A>C
  • NM_001407887.1:c.2840A>C
  • NM_001407889.1:c.2840A>C
  • NM_001407894.1:c.2837A>C
  • NM_001407895.1:c.2837A>C
  • NM_001407896.1:c.2837A>C
  • NM_001407897.1:c.2837A>C
  • NM_001407898.1:c.2837A>C
  • NM_001407899.1:c.2837A>C
  • NM_001407900.1:c.2840A>C
  • NM_001407902.1:c.2840A>C
  • NM_001407904.1:c.2840A>C
  • NM_001407906.1:c.2840A>C
  • NM_001407907.1:c.2840A>C
  • NM_001407908.1:c.2840A>C
  • NM_001407909.1:c.2840A>C
  • NM_001407910.1:c.2840A>C
  • NM_001407915.1:c.2837A>C
  • NM_001407916.1:c.2837A>C
  • NM_001407917.1:c.2837A>C
  • NM_001407918.1:c.2837A>C
  • NM_001407919.1:c.2927A>C
  • NM_001407920.1:c.2786A>C
  • NM_001407921.1:c.2786A>C
  • NM_001407922.1:c.2786A>C
  • NM_001407923.1:c.2786A>C
  • NM_001407924.1:c.2786A>C
  • NM_001407925.1:c.2786A>C
  • NM_001407926.1:c.2786A>C
  • NM_001407927.1:c.2786A>C
  • NM_001407928.1:c.2786A>C
  • NM_001407929.1:c.2786A>C
  • NM_001407930.1:c.2783A>C
  • NM_001407931.1:c.2783A>C
  • NM_001407932.1:c.2783A>C
  • NM_001407933.1:c.2786A>C
  • NM_001407934.1:c.2783A>C
  • NM_001407935.1:c.2786A>C
  • NM_001407936.1:c.2783A>C
  • NM_001407937.1:c.2927A>C
  • NM_001407938.1:c.2927A>C
  • NM_001407939.1:c.2927A>C
  • NM_001407940.1:c.2924A>C
  • NM_001407941.1:c.2924A>C
  • NM_001407942.1:c.2909A>C
  • NM_001407943.1:c.2906A>C
  • NM_001407944.1:c.2909A>C
  • NM_001407945.1:c.2909A>C
  • NM_001407946.1:c.2717A>C
  • NM_001407947.1:c.2717A>C
  • NM_001407948.1:c.2717A>C
  • NM_001407949.1:c.2717A>C
  • NM_001407950.1:c.2717A>C
  • NM_001407951.1:c.2717A>C
  • NM_001407952.1:c.2717A>C
  • NM_001407953.1:c.2717A>C
  • NM_001407954.1:c.2714A>C
  • NM_001407955.1:c.2714A>C
  • NM_001407956.1:c.2714A>C
  • NM_001407957.1:c.2717A>C
  • NM_001407958.1:c.2714A>C
  • NM_001407959.1:c.2669A>C
  • NM_001407960.1:c.2669A>C
  • NM_001407962.1:c.2666A>C
  • NM_001407963.1:c.2669A>C
  • NM_001407964.1:c.2906A>C
  • NM_001407965.1:c.2546A>C
  • NM_001407966.1:c.2162A>C
  • NM_001407967.1:c.2162A>C
  • NM_001407968.1:c.788-342A>C
  • NM_001407969.1:c.788-342A>C
  • NM_001407970.1:c.788-1449A>C
  • NM_001407971.1:c.788-1449A>C
  • NM_001407972.1:c.785-1449A>C
  • NM_001407973.1:c.788-1449A>C
  • NM_001407974.1:c.788-1449A>C
  • NM_001407975.1:c.788-1449A>C
  • NM_001407976.1:c.788-1449A>C
  • NM_001407977.1:c.788-1449A>C
  • NM_001407978.1:c.788-1449A>C
  • NM_001407979.1:c.788-1449A>C
  • NM_001407980.1:c.788-1449A>C
  • NM_001407981.1:c.788-1449A>C
  • NM_001407982.1:c.788-1449A>C
  • NM_001407983.1:c.788-1449A>C
  • NM_001407984.1:c.785-1449A>C
  • NM_001407985.1:c.785-1449A>C
  • NM_001407986.1:c.785-1449A>C
  • NM_001407990.1:c.788-1449A>C
  • NM_001407991.1:c.785-1449A>C
  • NM_001407992.1:c.785-1449A>C
  • NM_001407993.1:c.788-1449A>C
  • NM_001408392.1:c.785-1449A>C
  • NM_001408396.1:c.785-1449A>C
  • NM_001408397.1:c.785-1449A>C
  • NM_001408398.1:c.785-1449A>C
  • NM_001408399.1:c.785-1449A>C
  • NM_001408400.1:c.785-1449A>C
  • NM_001408401.1:c.785-1449A>C
  • NM_001408402.1:c.785-1449A>C
  • NM_001408403.1:c.788-1449A>C
  • NM_001408404.1:c.788-1449A>C
  • NM_001408406.1:c.791-1458A>C
  • NM_001408407.1:c.785-1449A>C
  • NM_001408408.1:c.779-1449A>C
  • NM_001408409.1:c.710-1449A>C
  • NM_001408410.1:c.647-1449A>C
  • NM_001408411.1:c.710-1449A>C
  • NM_001408412.1:c.710-1449A>C
  • NM_001408413.1:c.707-1449A>C
  • NM_001408414.1:c.710-1449A>C
  • NM_001408415.1:c.710-1449A>C
  • NM_001408416.1:c.707-1449A>C
  • NM_001408418.1:c.671-1449A>C
  • NM_001408419.1:c.671-1449A>C
  • NM_001408420.1:c.671-1449A>C
  • NM_001408421.1:c.668-1449A>C
  • NM_001408422.1:c.671-1449A>C
  • NM_001408423.1:c.671-1449A>C
  • NM_001408424.1:c.668-1449A>C
  • NM_001408425.1:c.665-1449A>C
  • NM_001408426.1:c.665-1449A>C
  • NM_001408427.1:c.665-1449A>C
  • NM_001408428.1:c.665-1449A>C
  • NM_001408429.1:c.665-1449A>C
  • NM_001408430.1:c.665-1449A>C
  • NM_001408431.1:c.668-1449A>C
  • NM_001408432.1:c.662-1449A>C
  • NM_001408433.1:c.662-1449A>C
  • NM_001408434.1:c.662-1449A>C
  • NM_001408435.1:c.662-1449A>C
  • NM_001408436.1:c.665-1449A>C
  • NM_001408437.1:c.665-1449A>C
  • NM_001408438.1:c.665-1449A>C
  • NM_001408439.1:c.665-1449A>C
  • NM_001408440.1:c.665-1449A>C
  • NM_001408441.1:c.665-1449A>C
  • NM_001408442.1:c.665-1449A>C
  • NM_001408443.1:c.665-1449A>C
  • NM_001408444.1:c.665-1449A>C
  • NM_001408445.1:c.662-1449A>C
  • NM_001408446.1:c.662-1449A>C
  • NM_001408447.1:c.662-1449A>C
  • NM_001408448.1:c.662-1449A>C
  • NM_001408450.1:c.662-1449A>C
  • NM_001408451.1:c.653-1449A>C
  • NM_001408452.1:c.647-1449A>C
  • NM_001408453.1:c.647-1449A>C
  • NM_001408454.1:c.647-1449A>C
  • NM_001408455.1:c.647-1449A>C
  • NM_001408456.1:c.647-1449A>C
  • NM_001408457.1:c.647-1449A>C
  • NM_001408458.1:c.647-1449A>C
  • NM_001408459.1:c.647-1449A>C
  • NM_001408460.1:c.647-1449A>C
  • NM_001408461.1:c.647-1449A>C
  • NM_001408462.1:c.644-1449A>C
  • NM_001408463.1:c.644-1449A>C
  • NM_001408464.1:c.644-1449A>C
  • NM_001408465.1:c.644-1449A>C
  • NM_001408466.1:c.647-1449A>C
  • NM_001408467.1:c.647-1449A>C
  • NM_001408468.1:c.644-1449A>C
  • NM_001408469.1:c.647-1449A>C
  • NM_001408470.1:c.644-1449A>C
  • NM_001408472.1:c.788-1449A>C
  • NM_001408473.1:c.785-1449A>C
  • NM_001408474.1:c.587-1449A>C
  • NM_001408475.1:c.584-1449A>C
  • NM_001408476.1:c.587-1449A>C
  • NM_001408478.1:c.578-1449A>C
  • NM_001408479.1:c.578-1449A>C
  • NM_001408480.1:c.578-1449A>C
  • NM_001408481.1:c.578-1449A>C
  • NM_001408482.1:c.578-1449A>C
  • NM_001408483.1:c.578-1449A>C
  • NM_001408484.1:c.578-1449A>C
  • NM_001408485.1:c.578-1449A>C
  • NM_001408489.1:c.578-1449A>C
  • NM_001408490.1:c.575-1449A>C
  • NM_001408491.1:c.575-1449A>C
  • NM_001408492.1:c.578-1449A>C
  • NM_001408493.1:c.575-1449A>C
  • NM_001408494.1:c.548-1449A>C
  • NM_001408495.1:c.545-1449A>C
  • NM_001408496.1:c.524-1449A>C
  • NM_001408497.1:c.524-1449A>C
  • NM_001408498.1:c.524-1449A>C
  • NM_001408499.1:c.524-1449A>C
  • NM_001408500.1:c.524-1449A>C
  • NM_001408501.1:c.524-1449A>C
  • NM_001408502.1:c.455-1449A>C
  • NM_001408503.1:c.521-1449A>C
  • NM_001408504.1:c.521-1449A>C
  • NM_001408505.1:c.521-1449A>C
  • NM_001408506.1:c.461-1449A>C
  • NM_001408507.1:c.461-1449A>C
  • NM_001408508.1:c.452-1449A>C
  • NM_001408509.1:c.452-1449A>C
  • NM_001408510.1:c.407-1449A>C
  • NM_001408511.1:c.404-1449A>C
  • NM_001408512.1:c.284-1449A>C
  • NM_001408513.1:c.578-1449A>C
  • NM_001408514.1:c.578-1449A>C
  • NM_007294.4:c.3050A>CMANE SELECT
  • NM_007297.4:c.2909A>C
  • NM_007298.4:c.788-1449A>C
  • NM_007299.4:c.788-1449A>C
  • NM_007300.4:c.3050A>C
  • NP_001394500.1:p.Glu946Ala
  • NP_001394510.1:p.Glu1017Ala
  • NP_001394511.1:p.Glu1017Ala
  • NP_001394512.1:p.Glu1017Ala
  • NP_001394514.1:p.Glu1017Ala
  • NP_001394516.1:p.Glu1016Ala
  • NP_001394519.1:p.Glu1016Ala
  • NP_001394520.1:p.Glu1016Ala
  • NP_001394522.1:p.Glu1017Ala
  • NP_001394523.1:p.Glu1017Ala
  • NP_001394525.1:p.Glu1017Ala
  • NP_001394526.1:p.Glu1017Ala
  • NP_001394527.1:p.Glu1017Ala
  • NP_001394531.1:p.Glu1017Ala
  • NP_001394532.1:p.Glu1017Ala
  • NP_001394534.1:p.Glu1017Ala
  • NP_001394539.1:p.Glu1016Ala
  • NP_001394540.1:p.Glu1016Ala
  • NP_001394541.1:p.Glu1016Ala
  • NP_001394542.1:p.Glu1016Ala
  • NP_001394543.1:p.Glu1016Ala
  • NP_001394544.1:p.Glu1016Ala
  • NP_001394545.1:p.Glu1017Ala
  • NP_001394546.1:p.Glu1017Ala
  • NP_001394547.1:p.Glu1017Ala
  • NP_001394548.1:p.Glu1017Ala
  • NP_001394549.1:p.Glu1017Ala
  • NP_001394550.1:p.Glu1017Ala
  • NP_001394551.1:p.Glu1017Ala
  • NP_001394552.1:p.Glu1017Ala
  • NP_001394553.1:p.Glu1017Ala
  • NP_001394554.1:p.Glu1017Ala
  • NP_001394555.1:p.Glu1017Ala
  • NP_001394556.1:p.Glu1016Ala
  • NP_001394557.1:p.Glu1016Ala
  • NP_001394558.1:p.Glu1016Ala
  • NP_001394559.1:p.Glu1016Ala
  • NP_001394560.1:p.Glu1016Ala
  • NP_001394561.1:p.Glu1016Ala
  • NP_001394562.1:p.Glu1016Ala
  • NP_001394563.1:p.Glu1016Ala
  • NP_001394564.1:p.Glu1016Ala
  • NP_001394565.1:p.Glu1016Ala
  • NP_001394566.1:p.Glu1016Ala
  • NP_001394567.1:p.Glu1016Ala
  • NP_001394568.1:p.Glu1017Ala
  • NP_001394569.1:p.Glu1017Ala
  • NP_001394570.1:p.Glu1017Ala
  • NP_001394571.1:p.Glu1017Ala
  • NP_001394573.1:p.Glu1016Ala
  • NP_001394574.1:p.Glu1016Ala
  • NP_001394575.1:p.Glu1014Ala
  • NP_001394576.1:p.Glu1014Ala
  • NP_001394577.1:p.Glu976Ala
  • NP_001394578.1:p.Glu975Ala
  • NP_001394581.1:p.Glu1017Ala
  • NP_001394582.1:p.Glu991Ala
  • NP_001394583.1:p.Glu991Ala
  • NP_001394584.1:p.Glu991Ala
  • NP_001394585.1:p.Glu991Ala
  • NP_001394586.1:p.Glu991Ala
  • NP_001394587.1:p.Glu991Ala
  • NP_001394588.1:p.Glu990Ala
  • NP_001394589.1:p.Glu990Ala
  • NP_001394590.1:p.Glu990Ala
  • NP_001394591.1:p.Glu990Ala
  • NP_001394592.1:p.Glu991Ala
  • NP_001394593.1:p.Glu976Ala
  • NP_001394594.1:p.Glu976Ala
  • NP_001394595.1:p.Glu976Ala
  • NP_001394596.1:p.Glu976Ala
  • NP_001394597.1:p.Glu976Ala
  • NP_001394598.1:p.Glu976Ala
  • NP_001394599.1:p.Glu975Ala
  • NP_001394600.1:p.Glu975Ala
  • NP_001394601.1:p.Glu975Ala
  • NP_001394602.1:p.Glu975Ala
  • NP_001394603.1:p.Glu976Ala
  • NP_001394604.1:p.Glu976Ala
  • NP_001394605.1:p.Glu976Ala
  • NP_001394606.1:p.Glu976Ala
  • NP_001394607.1:p.Glu976Ala
  • NP_001394608.1:p.Glu976Ala
  • NP_001394609.1:p.Glu976Ala
  • NP_001394610.1:p.Glu976Ala
  • NP_001394611.1:p.Glu976Ala
  • NP_001394612.1:p.Glu976Ala
  • NP_001394613.1:p.Glu1017Ala
  • NP_001394614.1:p.Glu975Ala
  • NP_001394615.1:p.Glu975Ala
  • NP_001394616.1:p.Glu975Ala
  • NP_001394617.1:p.Glu975Ala
  • NP_001394618.1:p.Glu975Ala
  • NP_001394619.1:p.Glu975Ala
  • NP_001394620.1:p.Glu975Ala
  • NP_001394621.1:p.Glu970Ala
  • NP_001394623.1:p.Glu970Ala
  • NP_001394624.1:p.Glu970Ala
  • NP_001394625.1:p.Glu970Ala
  • NP_001394626.1:p.Glu970Ala
  • NP_001394627.1:p.Glu970Ala
  • NP_001394653.1:p.Glu970Ala
  • NP_001394654.1:p.Glu970Ala
  • NP_001394655.1:p.Glu970Ala
  • NP_001394656.1:p.Glu970Ala
  • NP_001394657.1:p.Glu970Ala
  • NP_001394658.1:p.Glu970Ala
  • NP_001394659.1:p.Glu970Ala
  • NP_001394660.1:p.Glu970Ala
  • NP_001394661.1:p.Glu970Ala
  • NP_001394662.1:p.Glu970Ala
  • NP_001394663.1:p.Glu970Ala
  • NP_001394664.1:p.Glu970Ala
  • NP_001394665.1:p.Glu970Ala
  • NP_001394666.1:p.Glu970Ala
  • NP_001394667.1:p.Glu970Ala
  • NP_001394668.1:p.Glu970Ala
  • NP_001394669.1:p.Glu969Ala
  • NP_001394670.1:p.Glu969Ala
  • NP_001394671.1:p.Glu969Ala
  • NP_001394672.1:p.Glu969Ala
  • NP_001394673.1:p.Glu969Ala
  • NP_001394674.1:p.Glu969Ala
  • NP_001394675.1:p.Glu969Ala
  • NP_001394676.1:p.Glu969Ala
  • NP_001394677.1:p.Glu969Ala
  • NP_001394678.1:p.Glu969Ala
  • NP_001394679.1:p.Glu970Ala
  • NP_001394680.1:p.Glu970Ala
  • NP_001394681.1:p.Glu970Ala
  • NP_001394767.1:p.Glu969Ala
  • NP_001394768.1:p.Glu969Ala
  • NP_001394770.1:p.Glu969Ala
  • NP_001394771.1:p.Glu969Ala
  • NP_001394772.1:p.Glu969Ala
  • NP_001394773.1:p.Glu969Ala
  • NP_001394774.1:p.Glu969Ala
  • NP_001394775.1:p.Glu969Ala
  • NP_001394776.1:p.Glu969Ala
  • NP_001394777.1:p.Glu969Ala
  • NP_001394778.1:p.Glu969Ala
  • NP_001394779.1:p.Glu970Ala
  • NP_001394780.1:p.Glu970Ala
  • NP_001394781.1:p.Glu970Ala
  • NP_001394782.1:p.Glu946Ala
  • NP_001394783.1:p.Glu1017Ala
  • NP_001394787.1:p.Glu1017Ala
  • NP_001394788.1:p.Glu1017Ala
  • NP_001394789.1:p.Glu1016Ala
  • NP_001394790.1:p.Glu1016Ala
  • NP_001394791.1:p.Glu950Ala
  • NP_001394792.1:p.Glu976Ala
  • NP_001394803.1:p.Glu949Ala
  • NP_001394804.1:p.Glu949Ala
  • NP_001394808.1:p.Glu947Ala
  • NP_001394810.1:p.Glu947Ala
  • NP_001394811.1:p.Glu947Ala
  • NP_001394813.1:p.Glu947Ala
  • NP_001394814.1:p.Glu947Ala
  • NP_001394815.1:p.Glu947Ala
  • NP_001394816.1:p.Glu947Ala
  • NP_001394818.1:p.Glu947Ala
  • NP_001394823.1:p.Glu946Ala
  • NP_001394824.1:p.Glu946Ala
  • NP_001394825.1:p.Glu946Ala
  • NP_001394826.1:p.Glu946Ala
  • NP_001394827.1:p.Glu946Ala
  • NP_001394828.1:p.Glu946Ala
  • NP_001394829.1:p.Glu947Ala
  • NP_001394831.1:p.Glu947Ala
  • NP_001394833.1:p.Glu947Ala
  • NP_001394835.1:p.Glu947Ala
  • NP_001394836.1:p.Glu947Ala
  • NP_001394837.1:p.Glu947Ala
  • NP_001394838.1:p.Glu947Ala
  • NP_001394839.1:p.Glu947Ala
  • NP_001394844.1:p.Glu946Ala
  • NP_001394845.1:p.Glu946Ala
  • NP_001394846.1:p.Glu946Ala
  • NP_001394847.1:p.Glu946Ala
  • NP_001394848.1:p.Glu976Ala
  • NP_001394849.1:p.Glu929Ala
  • NP_001394850.1:p.Glu929Ala
  • NP_001394851.1:p.Glu929Ala
  • NP_001394852.1:p.Glu929Ala
  • NP_001394853.1:p.Glu929Ala
  • NP_001394854.1:p.Glu929Ala
  • NP_001394855.1:p.Glu929Ala
  • NP_001394856.1:p.Glu929Ala
  • NP_001394857.1:p.Glu929Ala
  • NP_001394858.1:p.Glu929Ala
  • NP_001394859.1:p.Glu928Ala
  • NP_001394860.1:p.Glu928Ala
  • NP_001394861.1:p.Glu928Ala
  • NP_001394862.1:p.Glu929Ala
  • NP_001394863.1:p.Glu928Ala
  • NP_001394864.1:p.Glu929Ala
  • NP_001394865.1:p.Glu928Ala
  • NP_001394866.1:p.Glu976Ala
  • NP_001394867.1:p.Glu976Ala
  • NP_001394868.1:p.Glu976Ala
  • NP_001394869.1:p.Glu975Ala
  • NP_001394870.1:p.Glu975Ala
  • NP_001394871.1:p.Glu970Ala
  • NP_001394872.1:p.Glu969Ala
  • NP_001394873.1:p.Glu970Ala
  • NP_001394874.1:p.Glu970Ala
  • NP_001394875.1:p.Glu906Ala
  • NP_001394876.1:p.Glu906Ala
  • NP_001394877.1:p.Glu906Ala
  • NP_001394878.1:p.Glu906Ala
  • NP_001394879.1:p.Glu906Ala
  • NP_001394880.1:p.Glu906Ala
  • NP_001394881.1:p.Glu906Ala
  • NP_001394882.1:p.Glu906Ala
  • NP_001394883.1:p.Glu905Ala
  • NP_001394884.1:p.Glu905Ala
  • NP_001394885.1:p.Glu905Ala
  • NP_001394886.1:p.Glu906Ala
  • NP_001394887.1:p.Glu905Ala
  • NP_001394888.1:p.Glu890Ala
  • NP_001394889.1:p.Glu890Ala
  • NP_001394891.1:p.Glu889Ala
  • NP_001394892.1:p.Glu890Ala
  • NP_001394893.1:p.Glu969Ala
  • NP_001394894.1:p.Glu849Ala
  • NP_001394895.1:p.Glu721Ala
  • NP_001394896.1:p.Glu721Ala
  • NP_009225.1:p.Glu1017Ala
  • NP_009225.1:p.Glu1017Ala
  • NP_009228.2:p.Glu970Ala
  • NP_009231.2:p.Glu1017Ala
  • LRG_292t1:c.3050A>C
  • LRG_292:g.125503A>C
  • LRG_292p1:p.Glu1017Ala
  • NC_000017.10:g.41244498T>G
  • NM_007294.3:c.3050A>C
  • NR_027676.2:n.3227A>C
Protein change:
E1014A
Molecular consequence:
  • NM_001407968.1:c.788-342A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-342A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1458A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1449A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3041A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3041A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3047A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2840A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2837A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2783A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2783A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2783A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2783A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2786A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2783A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2927A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2714A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2714A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2714A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2717A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2714A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2669A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2669A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2666A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2669A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2906A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2546A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2162A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2162A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3050A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV003856672Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Uncertain significance
    (Feb 16, 2023)     		germlineclinical testing

    Citation Link

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    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Ambry Genetics, SCV003856672.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided

    Description

    The p.E1017A variant (also known as c.3050A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 3050. The glutamic acid at codon 1017 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: May 1, 2024