U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 3, 2023
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003156724.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly)]

NM_007294.4(BRCA1):c.3209C>G (p.Ala1070Gly)

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.3209C>G (p.Ala1070Gly)
HGVS:
  • NC_000017.11:g.43092322G>C
  • NG_005905.2:g.125662C>G
  • NG_087068.1:g.1304G>C
  • NM_001407571.1:c.2996C>G
  • NM_001407581.1:c.3209C>G
  • NM_001407582.1:c.3209C>G
  • NM_001407583.1:c.3209C>G
  • NM_001407585.1:c.3209C>G
  • NM_001407587.1:c.3206C>G
  • NM_001407590.1:c.3206C>G
  • NM_001407591.1:c.3206C>G
  • NM_001407593.1:c.3209C>G
  • NM_001407594.1:c.3209C>G
  • NM_001407596.1:c.3209C>G
  • NM_001407597.1:c.3209C>G
  • NM_001407598.1:c.3209C>G
  • NM_001407602.1:c.3209C>G
  • NM_001407603.1:c.3209C>G
  • NM_001407605.1:c.3209C>G
  • NM_001407610.1:c.3206C>G
  • NM_001407611.1:c.3206C>G
  • NM_001407612.1:c.3206C>G
  • NM_001407613.1:c.3206C>G
  • NM_001407614.1:c.3206C>G
  • NM_001407615.1:c.3206C>G
  • NM_001407616.1:c.3209C>G
  • NM_001407617.1:c.3209C>G
  • NM_001407618.1:c.3209C>G
  • NM_001407619.1:c.3209C>G
  • NM_001407620.1:c.3209C>G
  • NM_001407621.1:c.3209C>G
  • NM_001407622.1:c.3209C>G
  • NM_001407623.1:c.3209C>G
  • NM_001407624.1:c.3209C>G
  • NM_001407625.1:c.3209C>G
  • NM_001407626.1:c.3209C>G
  • NM_001407627.1:c.3206C>G
  • NM_001407628.1:c.3206C>G
  • NM_001407629.1:c.3206C>G
  • NM_001407630.1:c.3206C>G
  • NM_001407631.1:c.3206C>G
  • NM_001407632.1:c.3206C>G
  • NM_001407633.1:c.3206C>G
  • NM_001407634.1:c.3206C>G
  • NM_001407635.1:c.3206C>G
  • NM_001407636.1:c.3206C>G
  • NM_001407637.1:c.3206C>G
  • NM_001407638.1:c.3206C>G
  • NM_001407639.1:c.3209C>G
  • NM_001407640.1:c.3209C>G
  • NM_001407641.1:c.3209C>G
  • NM_001407642.1:c.3209C>G
  • NM_001407644.1:c.3206C>G
  • NM_001407645.1:c.3206C>G
  • NM_001407646.1:c.3200C>G
  • NM_001407647.1:c.3200C>G
  • NM_001407648.1:c.3086C>G
  • NM_001407649.1:c.3083C>G
  • NM_001407652.1:c.3209C>G
  • NM_001407653.1:c.3131C>G
  • NM_001407654.1:c.3131C>G
  • NM_001407655.1:c.3131C>G
  • NM_001407656.1:c.3131C>G
  • NM_001407657.1:c.3131C>G
  • NM_001407658.1:c.3131C>G
  • NM_001407659.1:c.3128C>G
  • NM_001407660.1:c.3128C>G
  • NM_001407661.1:c.3128C>G
  • NM_001407662.1:c.3128C>G
  • NM_001407663.1:c.3131C>G
  • NM_001407664.1:c.3086C>G
  • NM_001407665.1:c.3086C>G
  • NM_001407666.1:c.3086C>G
  • NM_001407667.1:c.3086C>G
  • NM_001407668.1:c.3086C>G
  • NM_001407669.1:c.3086C>G
  • NM_001407670.1:c.3083C>G
  • NM_001407671.1:c.3083C>G
  • NM_001407672.1:c.3083C>G
  • NM_001407673.1:c.3083C>G
  • NM_001407674.1:c.3086C>G
  • NM_001407675.1:c.3086C>G
  • NM_001407676.1:c.3086C>G
  • NM_001407677.1:c.3086C>G
  • NM_001407678.1:c.3086C>G
  • NM_001407679.1:c.3086C>G
  • NM_001407680.1:c.3086C>G
  • NM_001407681.1:c.3086C>G
  • NM_001407682.1:c.3086C>G
  • NM_001407683.1:c.3086C>G
  • NM_001407684.1:c.3209C>G
  • NM_001407685.1:c.3083C>G
  • NM_001407686.1:c.3083C>G
  • NM_001407687.1:c.3083C>G
  • NM_001407688.1:c.3083C>G
  • NM_001407689.1:c.3083C>G
  • NM_001407690.1:c.3083C>G
  • NM_001407691.1:c.3083C>G
  • NM_001407692.1:c.3068C>G
  • NM_001407694.1:c.3068C>G
  • NM_001407695.1:c.3068C>G
  • NM_001407696.1:c.3068C>G
  • NM_001407697.1:c.3068C>G
  • NM_001407698.1:c.3068C>G
  • NM_001407724.1:c.3068C>G
  • NM_001407725.1:c.3068C>G
  • NM_001407726.1:c.3068C>G
  • NM_001407727.1:c.3068C>G
  • NM_001407728.1:c.3068C>G
  • NM_001407729.1:c.3068C>G
  • NM_001407730.1:c.3068C>G
  • NM_001407731.1:c.3068C>G
  • NM_001407732.1:c.3068C>G
  • NM_001407733.1:c.3068C>G
  • NM_001407734.1:c.3068C>G
  • NM_001407735.1:c.3068C>G
  • NM_001407736.1:c.3068C>G
  • NM_001407737.1:c.3068C>G
  • NM_001407738.1:c.3068C>G
  • NM_001407739.1:c.3068C>G
  • NM_001407740.1:c.3065C>G
  • NM_001407741.1:c.3065C>G
  • NM_001407742.1:c.3065C>G
  • NM_001407743.1:c.3065C>G
  • NM_001407744.1:c.3065C>G
  • NM_001407745.1:c.3065C>G
  • NM_001407746.1:c.3065C>G
  • NM_001407747.1:c.3065C>G
  • NM_001407748.1:c.3065C>G
  • NM_001407749.1:c.3065C>G
  • NM_001407750.1:c.3068C>G
  • NM_001407751.1:c.3068C>G
  • NM_001407752.1:c.3068C>G
  • NM_001407838.1:c.3065C>G
  • NM_001407839.1:c.3065C>G
  • NM_001407841.1:c.3065C>G
  • NM_001407842.1:c.3065C>G
  • NM_001407843.1:c.3065C>G
  • NM_001407844.1:c.3065C>G
  • NM_001407845.1:c.3065C>G
  • NM_001407846.1:c.3065C>G
  • NM_001407847.1:c.3065C>G
  • NM_001407848.1:c.3065C>G
  • NM_001407849.1:c.3065C>G
  • NM_001407850.1:c.3068C>G
  • NM_001407851.1:c.3068C>G
  • NM_001407852.1:c.3068C>G
  • NM_001407853.1:c.2996C>G
  • NM_001407854.1:c.3209C>G
  • NM_001407858.1:c.3209C>G
  • NM_001407859.1:c.3209C>G
  • NM_001407860.1:c.3206C>G
  • NM_001407861.1:c.3206C>G
  • NM_001407862.1:c.3008C>G
  • NM_001407863.1:c.3086C>G
  • NM_001407874.1:c.3005C>G
  • NM_001407875.1:c.3005C>G
  • NM_001407879.1:c.2999C>G
  • NM_001407881.1:c.2999C>G
  • NM_001407882.1:c.2999C>G
  • NM_001407884.1:c.2999C>G
  • NM_001407885.1:c.2999C>G
  • NM_001407886.1:c.2999C>G
  • NM_001407887.1:c.2999C>G
  • NM_001407889.1:c.2999C>G
  • NM_001407894.1:c.2996C>G
  • NM_001407895.1:c.2996C>G
  • NM_001407896.1:c.2996C>G
  • NM_001407897.1:c.2996C>G
  • NM_001407898.1:c.2996C>G
  • NM_001407899.1:c.2996C>G
  • NM_001407900.1:c.2999C>G
  • NM_001407902.1:c.2999C>G
  • NM_001407904.1:c.2999C>G
  • NM_001407906.1:c.2999C>G
  • NM_001407907.1:c.2999C>G
  • NM_001407908.1:c.2999C>G
  • NM_001407909.1:c.2999C>G
  • NM_001407910.1:c.2999C>G
  • NM_001407915.1:c.2996C>G
  • NM_001407916.1:c.2996C>G
  • NM_001407917.1:c.2996C>G
  • NM_001407918.1:c.2996C>G
  • NM_001407919.1:c.3086C>G
  • NM_001407920.1:c.2945C>G
  • NM_001407921.1:c.2945C>G
  • NM_001407922.1:c.2945C>G
  • NM_001407923.1:c.2945C>G
  • NM_001407924.1:c.2945C>G
  • NM_001407925.1:c.2945C>G
  • NM_001407926.1:c.2945C>G
  • NM_001407927.1:c.2945C>G
  • NM_001407928.1:c.2945C>G
  • NM_001407929.1:c.2945C>G
  • NM_001407930.1:c.2942C>G
  • NM_001407931.1:c.2942C>G
  • NM_001407932.1:c.2942C>G
  • NM_001407933.1:c.2945C>G
  • NM_001407934.1:c.2942C>G
  • NM_001407935.1:c.2945C>G
  • NM_001407936.1:c.2942C>G
  • NM_001407937.1:c.3086C>G
  • NM_001407938.1:c.3086C>G
  • NM_001407939.1:c.3086C>G
  • NM_001407940.1:c.3083C>G
  • NM_001407941.1:c.3083C>G
  • NM_001407942.1:c.3068C>G
  • NM_001407943.1:c.3065C>G
  • NM_001407944.1:c.3068C>G
  • NM_001407945.1:c.3068C>G
  • NM_001407946.1:c.2876C>G
  • NM_001407947.1:c.2876C>G
  • NM_001407948.1:c.2876C>G
  • NM_001407949.1:c.2876C>G
  • NM_001407950.1:c.2876C>G
  • NM_001407951.1:c.2876C>G
  • NM_001407952.1:c.2876C>G
  • NM_001407953.1:c.2876C>G
  • NM_001407954.1:c.2873C>G
  • NM_001407955.1:c.2873C>G
  • NM_001407956.1:c.2873C>G
  • NM_001407957.1:c.2876C>G
  • NM_001407958.1:c.2873C>G
  • NM_001407959.1:c.2828C>G
  • NM_001407960.1:c.2828C>G
  • NM_001407962.1:c.2825C>G
  • NM_001407963.1:c.2828C>G
  • NM_001407964.1:c.3065C>G
  • NM_001407965.1:c.2705C>G
  • NM_001407966.1:c.2321C>G
  • NM_001407967.1:c.2321C>G
  • NM_001407968.1:c.788-183C>G
  • NM_001407969.1:c.788-183C>G
  • NM_001407970.1:c.788-1290C>G
  • NM_001407971.1:c.788-1290C>G
  • NM_001407972.1:c.785-1290C>G
  • NM_001407973.1:c.788-1290C>G
  • NM_001407974.1:c.788-1290C>G
  • NM_001407975.1:c.788-1290C>G
  • NM_001407976.1:c.788-1290C>G
  • NM_001407977.1:c.788-1290C>G
  • NM_001407978.1:c.788-1290C>G
  • NM_001407979.1:c.788-1290C>G
  • NM_001407980.1:c.788-1290C>G
  • NM_001407981.1:c.788-1290C>G
  • NM_001407982.1:c.788-1290C>G
  • NM_001407983.1:c.788-1290C>G
  • NM_001407984.1:c.785-1290C>G
  • NM_001407985.1:c.785-1290C>G
  • NM_001407986.1:c.785-1290C>G
  • NM_001407990.1:c.788-1290C>G
  • NM_001407991.1:c.785-1290C>G
  • NM_001407992.1:c.785-1290C>G
  • NM_001407993.1:c.788-1290C>G
  • NM_001408392.1:c.785-1290C>G
  • NM_001408396.1:c.785-1290C>G
  • NM_001408397.1:c.785-1290C>G
  • NM_001408398.1:c.785-1290C>G
  • NM_001408399.1:c.785-1290C>G
  • NM_001408400.1:c.785-1290C>G
  • NM_001408401.1:c.785-1290C>G
  • NM_001408402.1:c.785-1290C>G
  • NM_001408403.1:c.788-1290C>G
  • NM_001408404.1:c.788-1290C>G
  • NM_001408406.1:c.791-1299C>G
  • NM_001408407.1:c.785-1290C>G
  • NM_001408408.1:c.779-1290C>G
  • NM_001408409.1:c.710-1290C>G
  • NM_001408410.1:c.647-1290C>G
  • NM_001408411.1:c.710-1290C>G
  • NM_001408412.1:c.710-1290C>G
  • NM_001408413.1:c.707-1290C>G
  • NM_001408414.1:c.710-1290C>G
  • NM_001408415.1:c.710-1290C>G
  • NM_001408416.1:c.707-1290C>G
  • NM_001408418.1:c.671-1290C>G
  • NM_001408419.1:c.671-1290C>G
  • NM_001408420.1:c.671-1290C>G
  • NM_001408421.1:c.668-1290C>G
  • NM_001408422.1:c.671-1290C>G
  • NM_001408423.1:c.671-1290C>G
  • NM_001408424.1:c.668-1290C>G
  • NM_001408425.1:c.665-1290C>G
  • NM_001408426.1:c.665-1290C>G
  • NM_001408427.1:c.665-1290C>G
  • NM_001408428.1:c.665-1290C>G
  • NM_001408429.1:c.665-1290C>G
  • NM_001408430.1:c.665-1290C>G
  • NM_001408431.1:c.668-1290C>G
  • NM_001408432.1:c.662-1290C>G
  • NM_001408433.1:c.662-1290C>G
  • NM_001408434.1:c.662-1290C>G
  • NM_001408435.1:c.662-1290C>G
  • NM_001408436.1:c.665-1290C>G
  • NM_001408437.1:c.665-1290C>G
  • NM_001408438.1:c.665-1290C>G
  • NM_001408439.1:c.665-1290C>G
  • NM_001408440.1:c.665-1290C>G
  • NM_001408441.1:c.665-1290C>G
  • NM_001408442.1:c.665-1290C>G
  • NM_001408443.1:c.665-1290C>G
  • NM_001408444.1:c.665-1290C>G
  • NM_001408445.1:c.662-1290C>G
  • NM_001408446.1:c.662-1290C>G
  • NM_001408447.1:c.662-1290C>G
  • NM_001408448.1:c.662-1290C>G
  • NM_001408450.1:c.662-1290C>G
  • NM_001408451.1:c.653-1290C>G
  • NM_001408452.1:c.647-1290C>G
  • NM_001408453.1:c.647-1290C>G
  • NM_001408454.1:c.647-1290C>G
  • NM_001408455.1:c.647-1290C>G
  • NM_001408456.1:c.647-1290C>G
  • NM_001408457.1:c.647-1290C>G
  • NM_001408458.1:c.647-1290C>G
  • NM_001408459.1:c.647-1290C>G
  • NM_001408460.1:c.647-1290C>G
  • NM_001408461.1:c.647-1290C>G
  • NM_001408462.1:c.644-1290C>G
  • NM_001408463.1:c.644-1290C>G
  • NM_001408464.1:c.644-1290C>G
  • NM_001408465.1:c.644-1290C>G
  • NM_001408466.1:c.647-1290C>G
  • NM_001408467.1:c.647-1290C>G
  • NM_001408468.1:c.644-1290C>G
  • NM_001408469.1:c.647-1290C>G
  • NM_001408470.1:c.644-1290C>G
  • NM_001408472.1:c.788-1290C>G
  • NM_001408473.1:c.785-1290C>G
  • NM_001408474.1:c.587-1290C>G
  • NM_001408475.1:c.584-1290C>G
  • NM_001408476.1:c.587-1290C>G
  • NM_001408478.1:c.578-1290C>G
  • NM_001408479.1:c.578-1290C>G
  • NM_001408480.1:c.578-1290C>G
  • NM_001408481.1:c.578-1290C>G
  • NM_001408482.1:c.578-1290C>G
  • NM_001408483.1:c.578-1290C>G
  • NM_001408484.1:c.578-1290C>G
  • NM_001408485.1:c.578-1290C>G
  • NM_001408489.1:c.578-1290C>G
  • NM_001408490.1:c.575-1290C>G
  • NM_001408491.1:c.575-1290C>G
  • NM_001408492.1:c.578-1290C>G
  • NM_001408493.1:c.575-1290C>G
  • NM_001408494.1:c.548-1290C>G
  • NM_001408495.1:c.545-1290C>G
  • NM_001408496.1:c.524-1290C>G
  • NM_001408497.1:c.524-1290C>G
  • NM_001408498.1:c.524-1290C>G
  • NM_001408499.1:c.524-1290C>G
  • NM_001408500.1:c.524-1290C>G
  • NM_001408501.1:c.524-1290C>G
  • NM_001408502.1:c.455-1290C>G
  • NM_001408503.1:c.521-1290C>G
  • NM_001408504.1:c.521-1290C>G
  • NM_001408505.1:c.521-1290C>G
  • NM_001408506.1:c.461-1290C>G
  • NM_001408507.1:c.461-1290C>G
  • NM_001408508.1:c.452-1290C>G
  • NM_001408509.1:c.452-1290C>G
  • NM_001408510.1:c.407-1290C>G
  • NM_001408511.1:c.404-1290C>G
  • NM_001408512.1:c.284-1290C>G
  • NM_001408513.1:c.578-1290C>G
  • NM_001408514.1:c.578-1290C>G
  • NM_007294.4:c.3209C>GMANE SELECT
  • NM_007297.4:c.3068C>G
  • NM_007298.4:c.788-1290C>G
  • NM_007299.4:c.788-1290C>G
  • NM_007300.4:c.3209C>G
  • NP_001394500.1:p.Ala999Gly
  • NP_001394510.1:p.Ala1070Gly
  • NP_001394511.1:p.Ala1070Gly
  • NP_001394512.1:p.Ala1070Gly
  • NP_001394514.1:p.Ala1070Gly
  • NP_001394516.1:p.Ala1069Gly
  • NP_001394519.1:p.Ala1069Gly
  • NP_001394520.1:p.Ala1069Gly
  • NP_001394522.1:p.Ala1070Gly
  • NP_001394523.1:p.Ala1070Gly
  • NP_001394525.1:p.Ala1070Gly
  • NP_001394526.1:p.Ala1070Gly
  • NP_001394527.1:p.Ala1070Gly
  • NP_001394531.1:p.Ala1070Gly
  • NP_001394532.1:p.Ala1070Gly
  • NP_001394534.1:p.Ala1070Gly
  • NP_001394539.1:p.Ala1069Gly
  • NP_001394540.1:p.Ala1069Gly
  • NP_001394541.1:p.Ala1069Gly
  • NP_001394542.1:p.Ala1069Gly
  • NP_001394543.1:p.Ala1069Gly
  • NP_001394544.1:p.Ala1069Gly
  • NP_001394545.1:p.Ala1070Gly
  • NP_001394546.1:p.Ala1070Gly
  • NP_001394547.1:p.Ala1070Gly
  • NP_001394548.1:p.Ala1070Gly
  • NP_001394549.1:p.Ala1070Gly
  • NP_001394550.1:p.Ala1070Gly
  • NP_001394551.1:p.Ala1070Gly
  • NP_001394552.1:p.Ala1070Gly
  • NP_001394553.1:p.Ala1070Gly
  • NP_001394554.1:p.Ala1070Gly
  • NP_001394555.1:p.Ala1070Gly
  • NP_001394556.1:p.Ala1069Gly
  • NP_001394557.1:p.Ala1069Gly
  • NP_001394558.1:p.Ala1069Gly
  • NP_001394559.1:p.Ala1069Gly
  • NP_001394560.1:p.Ala1069Gly
  • NP_001394561.1:p.Ala1069Gly
  • NP_001394562.1:p.Ala1069Gly
  • NP_001394563.1:p.Ala1069Gly
  • NP_001394564.1:p.Ala1069Gly
  • NP_001394565.1:p.Ala1069Gly
  • NP_001394566.1:p.Ala1069Gly
  • NP_001394567.1:p.Ala1069Gly
  • NP_001394568.1:p.Ala1070Gly
  • NP_001394569.1:p.Ala1070Gly
  • NP_001394570.1:p.Ala1070Gly
  • NP_001394571.1:p.Ala1070Gly
  • NP_001394573.1:p.Ala1069Gly
  • NP_001394574.1:p.Ala1069Gly
  • NP_001394575.1:p.Ala1067Gly
  • NP_001394576.1:p.Ala1067Gly
  • NP_001394577.1:p.Ala1029Gly
  • NP_001394578.1:p.Ala1028Gly
  • NP_001394581.1:p.Ala1070Gly
  • NP_001394582.1:p.Ala1044Gly
  • NP_001394583.1:p.Ala1044Gly
  • NP_001394584.1:p.Ala1044Gly
  • NP_001394585.1:p.Ala1044Gly
  • NP_001394586.1:p.Ala1044Gly
  • NP_001394587.1:p.Ala1044Gly
  • NP_001394588.1:p.Ala1043Gly
  • NP_001394589.1:p.Ala1043Gly
  • NP_001394590.1:p.Ala1043Gly
  • NP_001394591.1:p.Ala1043Gly
  • NP_001394592.1:p.Ala1044Gly
  • NP_001394593.1:p.Ala1029Gly
  • NP_001394594.1:p.Ala1029Gly
  • NP_001394595.1:p.Ala1029Gly
  • NP_001394596.1:p.Ala1029Gly
  • NP_001394597.1:p.Ala1029Gly
  • NP_001394598.1:p.Ala1029Gly
  • NP_001394599.1:p.Ala1028Gly
  • NP_001394600.1:p.Ala1028Gly
  • NP_001394601.1:p.Ala1028Gly
  • NP_001394602.1:p.Ala1028Gly
  • NP_001394603.1:p.Ala1029Gly
  • NP_001394604.1:p.Ala1029Gly
  • NP_001394605.1:p.Ala1029Gly
  • NP_001394606.1:p.Ala1029Gly
  • NP_001394607.1:p.Ala1029Gly
  • NP_001394608.1:p.Ala1029Gly
  • NP_001394609.1:p.Ala1029Gly
  • NP_001394610.1:p.Ala1029Gly
  • NP_001394611.1:p.Ala1029Gly
  • NP_001394612.1:p.Ala1029Gly
  • NP_001394613.1:p.Ala1070Gly
  • NP_001394614.1:p.Ala1028Gly
  • NP_001394615.1:p.Ala1028Gly
  • NP_001394616.1:p.Ala1028Gly
  • NP_001394617.1:p.Ala1028Gly
  • NP_001394618.1:p.Ala1028Gly
  • NP_001394619.1:p.Ala1028Gly
  • NP_001394620.1:p.Ala1028Gly
  • NP_001394621.1:p.Ala1023Gly
  • NP_001394623.1:p.Ala1023Gly
  • NP_001394624.1:p.Ala1023Gly
  • NP_001394625.1:p.Ala1023Gly
  • NP_001394626.1:p.Ala1023Gly
  • NP_001394627.1:p.Ala1023Gly
  • NP_001394653.1:p.Ala1023Gly
  • NP_001394654.1:p.Ala1023Gly
  • NP_001394655.1:p.Ala1023Gly
  • NP_001394656.1:p.Ala1023Gly
  • NP_001394657.1:p.Ala1023Gly
  • NP_001394658.1:p.Ala1023Gly
  • NP_001394659.1:p.Ala1023Gly
  • NP_001394660.1:p.Ala1023Gly
  • NP_001394661.1:p.Ala1023Gly
  • NP_001394662.1:p.Ala1023Gly
  • NP_001394663.1:p.Ala1023Gly
  • NP_001394664.1:p.Ala1023Gly
  • NP_001394665.1:p.Ala1023Gly
  • NP_001394666.1:p.Ala1023Gly
  • NP_001394667.1:p.Ala1023Gly
  • NP_001394668.1:p.Ala1023Gly
  • NP_001394669.1:p.Ala1022Gly
  • NP_001394670.1:p.Ala1022Gly
  • NP_001394671.1:p.Ala1022Gly
  • NP_001394672.1:p.Ala1022Gly
  • NP_001394673.1:p.Ala1022Gly
  • NP_001394674.1:p.Ala1022Gly
  • NP_001394675.1:p.Ala1022Gly
  • NP_001394676.1:p.Ala1022Gly
  • NP_001394677.1:p.Ala1022Gly
  • NP_001394678.1:p.Ala1022Gly
  • NP_001394679.1:p.Ala1023Gly
  • NP_001394680.1:p.Ala1023Gly
  • NP_001394681.1:p.Ala1023Gly
  • NP_001394767.1:p.Ala1022Gly
  • NP_001394768.1:p.Ala1022Gly
  • NP_001394770.1:p.Ala1022Gly
  • NP_001394771.1:p.Ala1022Gly
  • NP_001394772.1:p.Ala1022Gly
  • NP_001394773.1:p.Ala1022Gly
  • NP_001394774.1:p.Ala1022Gly
  • NP_001394775.1:p.Ala1022Gly
  • NP_001394776.1:p.Ala1022Gly
  • NP_001394777.1:p.Ala1022Gly
  • NP_001394778.1:p.Ala1022Gly
  • NP_001394779.1:p.Ala1023Gly
  • NP_001394780.1:p.Ala1023Gly
  • NP_001394781.1:p.Ala1023Gly
  • NP_001394782.1:p.Ala999Gly
  • NP_001394783.1:p.Ala1070Gly
  • NP_001394787.1:p.Ala1070Gly
  • NP_001394788.1:p.Ala1070Gly
  • NP_001394789.1:p.Ala1069Gly
  • NP_001394790.1:p.Ala1069Gly
  • NP_001394791.1:p.Ala1003Gly
  • NP_001394792.1:p.Ala1029Gly
  • NP_001394803.1:p.Ala1002Gly
  • NP_001394804.1:p.Ala1002Gly
  • NP_001394808.1:p.Ala1000Gly
  • NP_001394810.1:p.Ala1000Gly
  • NP_001394811.1:p.Ala1000Gly
  • NP_001394813.1:p.Ala1000Gly
  • NP_001394814.1:p.Ala1000Gly
  • NP_001394815.1:p.Ala1000Gly
  • NP_001394816.1:p.Ala1000Gly
  • NP_001394818.1:p.Ala1000Gly
  • NP_001394823.1:p.Ala999Gly
  • NP_001394824.1:p.Ala999Gly
  • NP_001394825.1:p.Ala999Gly
  • NP_001394826.1:p.Ala999Gly
  • NP_001394827.1:p.Ala999Gly
  • NP_001394828.1:p.Ala999Gly
  • NP_001394829.1:p.Ala1000Gly
  • NP_001394831.1:p.Ala1000Gly
  • NP_001394833.1:p.Ala1000Gly
  • NP_001394835.1:p.Ala1000Gly
  • NP_001394836.1:p.Ala1000Gly
  • NP_001394837.1:p.Ala1000Gly
  • NP_001394838.1:p.Ala1000Gly
  • NP_001394839.1:p.Ala1000Gly
  • NP_001394844.1:p.Ala999Gly
  • NP_001394845.1:p.Ala999Gly
  • NP_001394846.1:p.Ala999Gly
  • NP_001394847.1:p.Ala999Gly
  • NP_001394848.1:p.Ala1029Gly
  • NP_001394849.1:p.Ala982Gly
  • NP_001394850.1:p.Ala982Gly
  • NP_001394851.1:p.Ala982Gly
  • NP_001394852.1:p.Ala982Gly
  • NP_001394853.1:p.Ala982Gly
  • NP_001394854.1:p.Ala982Gly
  • NP_001394855.1:p.Ala982Gly
  • NP_001394856.1:p.Ala982Gly
  • NP_001394857.1:p.Ala982Gly
  • NP_001394858.1:p.Ala982Gly
  • NP_001394859.1:p.Ala981Gly
  • NP_001394860.1:p.Ala981Gly
  • NP_001394861.1:p.Ala981Gly
  • NP_001394862.1:p.Ala982Gly
  • NP_001394863.1:p.Ala981Gly
  • NP_001394864.1:p.Ala982Gly
  • NP_001394865.1:p.Ala981Gly
  • NP_001394866.1:p.Ala1029Gly
  • NP_001394867.1:p.Ala1029Gly
  • NP_001394868.1:p.Ala1029Gly
  • NP_001394869.1:p.Ala1028Gly
  • NP_001394870.1:p.Ala1028Gly
  • NP_001394871.1:p.Ala1023Gly
  • NP_001394872.1:p.Ala1022Gly
  • NP_001394873.1:p.Ala1023Gly
  • NP_001394874.1:p.Ala1023Gly
  • NP_001394875.1:p.Ala959Gly
  • NP_001394876.1:p.Ala959Gly
  • NP_001394877.1:p.Ala959Gly
  • NP_001394878.1:p.Ala959Gly
  • NP_001394879.1:p.Ala959Gly
  • NP_001394880.1:p.Ala959Gly
  • NP_001394881.1:p.Ala959Gly
  • NP_001394882.1:p.Ala959Gly
  • NP_001394883.1:p.Ala958Gly
  • NP_001394884.1:p.Ala958Gly
  • NP_001394885.1:p.Ala958Gly
  • NP_001394886.1:p.Ala959Gly
  • NP_001394887.1:p.Ala958Gly
  • NP_001394888.1:p.Ala943Gly
  • NP_001394889.1:p.Ala943Gly
  • NP_001394891.1:p.Ala942Gly
  • NP_001394892.1:p.Ala943Gly
  • NP_001394893.1:p.Ala1022Gly
  • NP_001394894.1:p.Ala902Gly
  • NP_001394895.1:p.Ala774Gly
  • NP_001394896.1:p.Ala774Gly
  • NP_009225.1:p.Ala1070Gly
  • NP_009225.1:p.Ala1070Gly
  • NP_009228.2:p.Ala1023Gly
  • NP_009231.2:p.Ala1070Gly
  • LRG_292t1:c.3209C>G
  • LRG_292:g.125662C>G
  • LRG_292p1:p.Ala1070Gly
  • NC_000017.10:g.41244339G>C
  • NM_007294.3:c.3209C>G
  • NM_007294.3:c.3209C>G
  • NR_027676.1:n.3345C>G
Nucleotide change:
3328C>G
Protein change:
A1000G
Links:
dbSNP: rs397507212
NCBI 1000 Genomes Browser:
rs397507212
Molecular consequence:
  • NM_001407968.1:c.788-183C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-183C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1299C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1290C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3200C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3200C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3128C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3128C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3128C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3128C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3131C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3008C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3005C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3005C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2999C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2996C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2942C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2942C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2942C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2942C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2945C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2942C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3086C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3083C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2873C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2873C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2873C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2876C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2873C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2828C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2828C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2825C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2828C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3065C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2705C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2321C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2321C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3209C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3068C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3209C>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003850865University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

SCV004004338Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 3, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]
PMID:
31911673
PMCID:
PMC7200594

Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.

Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.

J Cancer Res Clin Oncol. 2021 Mar;147(3):871-879. doi: 10.1007/s00432-020-03377-6. Epub 2020 Sep 3. Erratum in: J Cancer Res Clin Oncol. 2021 Aug;147(8):2487. doi: 10.1007/s00432-020-03399-0.

PubMed [citation]
PMID:
32885271

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003850865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

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

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

From Ambry Genetics, SCV004004338.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.A1070G variant (also known as c.3209C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3209. The alanine at codon 1070 is replaced by glycine, an amino acid with similar properties. This variant was also observed in 1/3251 individuals who met eligibility criteria for hereditary breast and ovarian cancer syndrome (Lerner-Ellis J et al. J Cancer Res Clin Oncol, 2021 Mar;147:871-879). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024