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NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser) AND Malignant tumor of breast

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001357345.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)]

NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)

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.3086A>G (p.Asn1029Ser)
HGVS:
  • NC_000017.11:g.43092445T>C
  • NG_005905.2:g.125539A>G
  • NM_001407571.1:c.2873A>G
  • NM_001407581.1:c.3086A>G
  • NM_001407582.1:c.3086A>G
  • NM_001407583.1:c.3086A>G
  • NM_001407585.1:c.3086A>G
  • NM_001407587.1:c.3083A>G
  • NM_001407590.1:c.3083A>G
  • NM_001407591.1:c.3083A>G
  • NM_001407593.1:c.3086A>G
  • NM_001407594.1:c.3086A>G
  • NM_001407596.1:c.3086A>G
  • NM_001407597.1:c.3086A>G
  • NM_001407598.1:c.3086A>G
  • NM_001407602.1:c.3086A>G
  • NM_001407603.1:c.3086A>G
  • NM_001407605.1:c.3086A>G
  • NM_001407610.1:c.3083A>G
  • NM_001407611.1:c.3083A>G
  • NM_001407612.1:c.3083A>G
  • NM_001407613.1:c.3083A>G
  • NM_001407614.1:c.3083A>G
  • NM_001407615.1:c.3083A>G
  • NM_001407616.1:c.3086A>G
  • NM_001407617.1:c.3086A>G
  • NM_001407618.1:c.3086A>G
  • NM_001407619.1:c.3086A>G
  • NM_001407620.1:c.3086A>G
  • NM_001407621.1:c.3086A>G
  • NM_001407622.1:c.3086A>G
  • NM_001407623.1:c.3086A>G
  • NM_001407624.1:c.3086A>G
  • NM_001407625.1:c.3086A>G
  • NM_001407626.1:c.3086A>G
  • NM_001407627.1:c.3083A>G
  • NM_001407628.1:c.3083A>G
  • NM_001407629.1:c.3083A>G
  • NM_001407630.1:c.3083A>G
  • NM_001407631.1:c.3083A>G
  • NM_001407632.1:c.3083A>G
  • NM_001407633.1:c.3083A>G
  • NM_001407634.1:c.3083A>G
  • NM_001407635.1:c.3083A>G
  • NM_001407636.1:c.3083A>G
  • NM_001407637.1:c.3083A>G
  • NM_001407638.1:c.3083A>G
  • NM_001407639.1:c.3086A>G
  • NM_001407640.1:c.3086A>G
  • NM_001407641.1:c.3086A>G
  • NM_001407642.1:c.3086A>G
  • NM_001407644.1:c.3083A>G
  • NM_001407645.1:c.3083A>G
  • NM_001407646.1:c.3077A>G
  • NM_001407647.1:c.3077A>G
  • NM_001407648.1:c.2963A>G
  • NM_001407649.1:c.2960A>G
  • NM_001407652.1:c.3086A>G
  • NM_001407653.1:c.3008A>G
  • NM_001407654.1:c.3008A>G
  • NM_001407655.1:c.3008A>G
  • NM_001407656.1:c.3008A>G
  • NM_001407657.1:c.3008A>G
  • NM_001407658.1:c.3008A>G
  • NM_001407659.1:c.3005A>G
  • NM_001407660.1:c.3005A>G
  • NM_001407661.1:c.3005A>G
  • NM_001407662.1:c.3005A>G
  • NM_001407663.1:c.3008A>G
  • NM_001407664.1:c.2963A>G
  • NM_001407665.1:c.2963A>G
  • NM_001407666.1:c.2963A>G
  • NM_001407667.1:c.2963A>G
  • NM_001407668.1:c.2963A>G
  • NM_001407669.1:c.2963A>G
  • NM_001407670.1:c.2960A>G
  • NM_001407671.1:c.2960A>G
  • NM_001407672.1:c.2960A>G
  • NM_001407673.1:c.2960A>G
  • NM_001407674.1:c.2963A>G
  • NM_001407675.1:c.2963A>G
  • NM_001407676.1:c.2963A>G
  • NM_001407677.1:c.2963A>G
  • NM_001407678.1:c.2963A>G
  • NM_001407679.1:c.2963A>G
  • NM_001407680.1:c.2963A>G
  • NM_001407681.1:c.2963A>G
  • NM_001407682.1:c.2963A>G
  • NM_001407683.1:c.2963A>G
  • NM_001407684.1:c.3086A>G
  • NM_001407685.1:c.2960A>G
  • NM_001407686.1:c.2960A>G
  • NM_001407687.1:c.2960A>G
  • NM_001407688.1:c.2960A>G
  • NM_001407689.1:c.2960A>G
  • NM_001407690.1:c.2960A>G
  • NM_001407691.1:c.2960A>G
  • NM_001407692.1:c.2945A>G
  • NM_001407694.1:c.2945A>G
  • NM_001407695.1:c.2945A>G
  • NM_001407696.1:c.2945A>G
  • NM_001407697.1:c.2945A>G
  • NM_001407698.1:c.2945A>G
  • NM_001407724.1:c.2945A>G
  • NM_001407725.1:c.2945A>G
  • NM_001407726.1:c.2945A>G
  • NM_001407727.1:c.2945A>G
  • NM_001407728.1:c.2945A>G
  • NM_001407729.1:c.2945A>G
  • NM_001407730.1:c.2945A>G
  • NM_001407731.1:c.2945A>G
  • NM_001407732.1:c.2945A>G
  • NM_001407733.1:c.2945A>G
  • NM_001407734.1:c.2945A>G
  • NM_001407735.1:c.2945A>G
  • NM_001407736.1:c.2945A>G
  • NM_001407737.1:c.2945A>G
  • NM_001407738.1:c.2945A>G
  • NM_001407739.1:c.2945A>G
  • NM_001407740.1:c.2942A>G
  • NM_001407741.1:c.2942A>G
  • NM_001407742.1:c.2942A>G
  • NM_001407743.1:c.2942A>G
  • NM_001407744.1:c.2942A>G
  • NM_001407745.1:c.2942A>G
  • NM_001407746.1:c.2942A>G
  • NM_001407747.1:c.2942A>G
  • NM_001407748.1:c.2942A>G
  • NM_001407749.1:c.2942A>G
  • NM_001407750.1:c.2945A>G
  • NM_001407751.1:c.2945A>G
  • NM_001407752.1:c.2945A>G
  • NM_001407838.1:c.2942A>G
  • NM_001407839.1:c.2942A>G
  • NM_001407841.1:c.2942A>G
  • NM_001407842.1:c.2942A>G
  • NM_001407843.1:c.2942A>G
  • NM_001407844.1:c.2942A>G
  • NM_001407845.1:c.2942A>G
  • NM_001407846.1:c.2942A>G
  • NM_001407847.1:c.2942A>G
  • NM_001407848.1:c.2942A>G
  • NM_001407849.1:c.2942A>G
  • NM_001407850.1:c.2945A>G
  • NM_001407851.1:c.2945A>G
  • NM_001407852.1:c.2945A>G
  • NM_001407853.1:c.2873A>G
  • NM_001407854.1:c.3086A>G
  • NM_001407858.1:c.3086A>G
  • NM_001407859.1:c.3086A>G
  • NM_001407860.1:c.3083A>G
  • NM_001407861.1:c.3083A>G
  • NM_001407862.1:c.2885A>G
  • NM_001407863.1:c.2963A>G
  • NM_001407874.1:c.2882A>G
  • NM_001407875.1:c.2882A>G
  • NM_001407879.1:c.2876A>G
  • NM_001407881.1:c.2876A>G
  • NM_001407882.1:c.2876A>G
  • NM_001407884.1:c.2876A>G
  • NM_001407885.1:c.2876A>G
  • NM_001407886.1:c.2876A>G
  • NM_001407887.1:c.2876A>G
  • NM_001407889.1:c.2876A>G
  • NM_001407894.1:c.2873A>G
  • NM_001407895.1:c.2873A>G
  • NM_001407896.1:c.2873A>G
  • NM_001407897.1:c.2873A>G
  • NM_001407898.1:c.2873A>G
  • NM_001407899.1:c.2873A>G
  • NM_001407900.1:c.2876A>G
  • NM_001407902.1:c.2876A>G
  • NM_001407904.1:c.2876A>G
  • NM_001407906.1:c.2876A>G
  • NM_001407907.1:c.2876A>G
  • NM_001407908.1:c.2876A>G
  • NM_001407909.1:c.2876A>G
  • NM_001407910.1:c.2876A>G
  • NM_001407915.1:c.2873A>G
  • NM_001407916.1:c.2873A>G
  • NM_001407917.1:c.2873A>G
  • NM_001407918.1:c.2873A>G
  • NM_001407919.1:c.2963A>G
  • NM_001407920.1:c.2822A>G
  • NM_001407921.1:c.2822A>G
  • NM_001407922.1:c.2822A>G
  • NM_001407923.1:c.2822A>G
  • NM_001407924.1:c.2822A>G
  • NM_001407925.1:c.2822A>G
  • NM_001407926.1:c.2822A>G
  • NM_001407927.1:c.2822A>G
  • NM_001407928.1:c.2822A>G
  • NM_001407929.1:c.2822A>G
  • NM_001407930.1:c.2819A>G
  • NM_001407931.1:c.2819A>G
  • NM_001407932.1:c.2819A>G
  • NM_001407933.1:c.2822A>G
  • NM_001407934.1:c.2819A>G
  • NM_001407935.1:c.2822A>G
  • NM_001407936.1:c.2819A>G
  • NM_001407937.1:c.2963A>G
  • NM_001407938.1:c.2963A>G
  • NM_001407939.1:c.2963A>G
  • NM_001407940.1:c.2960A>G
  • NM_001407941.1:c.2960A>G
  • NM_001407942.1:c.2945A>G
  • NM_001407943.1:c.2942A>G
  • NM_001407944.1:c.2945A>G
  • NM_001407945.1:c.2945A>G
  • NM_001407946.1:c.2753A>G
  • NM_001407947.1:c.2753A>G
  • NM_001407948.1:c.2753A>G
  • NM_001407949.1:c.2753A>G
  • NM_001407950.1:c.2753A>G
  • NM_001407951.1:c.2753A>G
  • NM_001407952.1:c.2753A>G
  • NM_001407953.1:c.2753A>G
  • NM_001407954.1:c.2750A>G
  • NM_001407955.1:c.2750A>G
  • NM_001407956.1:c.2750A>G
  • NM_001407957.1:c.2753A>G
  • NM_001407958.1:c.2750A>G
  • NM_001407959.1:c.2705A>G
  • NM_001407960.1:c.2705A>G
  • NM_001407962.1:c.2702A>G
  • NM_001407963.1:c.2705A>G
  • NM_001407964.1:c.2942A>G
  • NM_001407965.1:c.2582A>G
  • NM_001407966.1:c.2198A>G
  • NM_001407967.1:c.2198A>G
  • NM_001407968.1:c.788-306A>G
  • NM_001407969.1:c.788-306A>G
  • NM_001407970.1:c.788-1413A>G
  • NM_001407971.1:c.788-1413A>G
  • NM_001407972.1:c.785-1413A>G
  • NM_001407973.1:c.788-1413A>G
  • NM_001407974.1:c.788-1413A>G
  • NM_001407975.1:c.788-1413A>G
  • NM_001407976.1:c.788-1413A>G
  • NM_001407977.1:c.788-1413A>G
  • NM_001407978.1:c.788-1413A>G
  • NM_001407979.1:c.788-1413A>G
  • NM_001407980.1:c.788-1413A>G
  • NM_001407981.1:c.788-1413A>G
  • NM_001407982.1:c.788-1413A>G
  • NM_001407983.1:c.788-1413A>G
  • NM_001407984.1:c.785-1413A>G
  • NM_001407985.1:c.785-1413A>G
  • NM_001407986.1:c.785-1413A>G
  • NM_001407990.1:c.788-1413A>G
  • NM_001407991.1:c.785-1413A>G
  • NM_001407992.1:c.785-1413A>G
  • NM_001407993.1:c.788-1413A>G
  • NM_001408392.1:c.785-1413A>G
  • NM_001408396.1:c.785-1413A>G
  • NM_001408397.1:c.785-1413A>G
  • NM_001408398.1:c.785-1413A>G
  • NM_001408399.1:c.785-1413A>G
  • NM_001408400.1:c.785-1413A>G
  • NM_001408401.1:c.785-1413A>G
  • NM_001408402.1:c.785-1413A>G
  • NM_001408403.1:c.788-1413A>G
  • NM_001408404.1:c.788-1413A>G
  • NM_001408406.1:c.791-1422A>G
  • NM_001408407.1:c.785-1413A>G
  • NM_001408408.1:c.779-1413A>G
  • NM_001408409.1:c.710-1413A>G
  • NM_001408410.1:c.647-1413A>G
  • NM_001408411.1:c.710-1413A>G
  • NM_001408412.1:c.710-1413A>G
  • NM_001408413.1:c.707-1413A>G
  • NM_001408414.1:c.710-1413A>G
  • NM_001408415.1:c.710-1413A>G
  • NM_001408416.1:c.707-1413A>G
  • NM_001408418.1:c.671-1413A>G
  • NM_001408419.1:c.671-1413A>G
  • NM_001408420.1:c.671-1413A>G
  • NM_001408421.1:c.668-1413A>G
  • NM_001408422.1:c.671-1413A>G
  • NM_001408423.1:c.671-1413A>G
  • NM_001408424.1:c.668-1413A>G
  • NM_001408425.1:c.665-1413A>G
  • NM_001408426.1:c.665-1413A>G
  • NM_001408427.1:c.665-1413A>G
  • NM_001408428.1:c.665-1413A>G
  • NM_001408429.1:c.665-1413A>G
  • NM_001408430.1:c.665-1413A>G
  • NM_001408431.1:c.668-1413A>G
  • NM_001408432.1:c.662-1413A>G
  • NM_001408433.1:c.662-1413A>G
  • NM_001408434.1:c.662-1413A>G
  • NM_001408435.1:c.662-1413A>G
  • NM_001408436.1:c.665-1413A>G
  • NM_001408437.1:c.665-1413A>G
  • NM_001408438.1:c.665-1413A>G
  • NM_001408439.1:c.665-1413A>G
  • NM_001408440.1:c.665-1413A>G
  • NM_001408441.1:c.665-1413A>G
  • NM_001408442.1:c.665-1413A>G
  • NM_001408443.1:c.665-1413A>G
  • NM_001408444.1:c.665-1413A>G
  • NM_001408445.1:c.662-1413A>G
  • NM_001408446.1:c.662-1413A>G
  • NM_001408447.1:c.662-1413A>G
  • NM_001408448.1:c.662-1413A>G
  • NM_001408450.1:c.662-1413A>G
  • NM_001408451.1:c.653-1413A>G
  • NM_001408452.1:c.647-1413A>G
  • NM_001408453.1:c.647-1413A>G
  • NM_001408454.1:c.647-1413A>G
  • NM_001408455.1:c.647-1413A>G
  • NM_001408456.1:c.647-1413A>G
  • NM_001408457.1:c.647-1413A>G
  • NM_001408458.1:c.647-1413A>G
  • NM_001408459.1:c.647-1413A>G
  • NM_001408460.1:c.647-1413A>G
  • NM_001408461.1:c.647-1413A>G
  • NM_001408462.1:c.644-1413A>G
  • NM_001408463.1:c.644-1413A>G
  • NM_001408464.1:c.644-1413A>G
  • NM_001408465.1:c.644-1413A>G
  • NM_001408466.1:c.647-1413A>G
  • NM_001408467.1:c.647-1413A>G
  • NM_001408468.1:c.644-1413A>G
  • NM_001408469.1:c.647-1413A>G
  • NM_001408470.1:c.644-1413A>G
  • NM_001408472.1:c.788-1413A>G
  • NM_001408473.1:c.785-1413A>G
  • NM_001408474.1:c.587-1413A>G
  • NM_001408475.1:c.584-1413A>G
  • NM_001408476.1:c.587-1413A>G
  • NM_001408478.1:c.578-1413A>G
  • NM_001408479.1:c.578-1413A>G
  • NM_001408480.1:c.578-1413A>G
  • NM_001408481.1:c.578-1413A>G
  • NM_001408482.1:c.578-1413A>G
  • NM_001408483.1:c.578-1413A>G
  • NM_001408484.1:c.578-1413A>G
  • NM_001408485.1:c.578-1413A>G
  • NM_001408489.1:c.578-1413A>G
  • NM_001408490.1:c.575-1413A>G
  • NM_001408491.1:c.575-1413A>G
  • NM_001408492.1:c.578-1413A>G
  • NM_001408493.1:c.575-1413A>G
  • NM_001408494.1:c.548-1413A>G
  • NM_001408495.1:c.545-1413A>G
  • NM_001408496.1:c.524-1413A>G
  • NM_001408497.1:c.524-1413A>G
  • NM_001408498.1:c.524-1413A>G
  • NM_001408499.1:c.524-1413A>G
  • NM_001408500.1:c.524-1413A>G
  • NM_001408501.1:c.524-1413A>G
  • NM_001408502.1:c.455-1413A>G
  • NM_001408503.1:c.521-1413A>G
  • NM_001408504.1:c.521-1413A>G
  • NM_001408505.1:c.521-1413A>G
  • NM_001408506.1:c.461-1413A>G
  • NM_001408507.1:c.461-1413A>G
  • NM_001408508.1:c.452-1413A>G
  • NM_001408509.1:c.452-1413A>G
  • NM_001408510.1:c.407-1413A>G
  • NM_001408511.1:c.404-1413A>G
  • NM_001408512.1:c.284-1413A>G
  • NM_001408513.1:c.578-1413A>G
  • NM_001408514.1:c.578-1413A>G
  • NM_007294.4:c.3086A>GMANE SELECT
  • NM_007297.4:c.2945A>G
  • NM_007298.4:c.788-1413A>G
  • NM_007299.4:c.788-1413A>G
  • NM_007300.4:c.3086A>G
  • NP_001394500.1:p.Asn958Ser
  • NP_001394510.1:p.Asn1029Ser
  • NP_001394511.1:p.Asn1029Ser
  • NP_001394512.1:p.Asn1029Ser
  • NP_001394514.1:p.Asn1029Ser
  • NP_001394516.1:p.Asn1028Ser
  • NP_001394519.1:p.Asn1028Ser
  • NP_001394520.1:p.Asn1028Ser
  • NP_001394522.1:p.Asn1029Ser
  • NP_001394523.1:p.Asn1029Ser
  • NP_001394525.1:p.Asn1029Ser
  • NP_001394526.1:p.Asn1029Ser
  • NP_001394527.1:p.Asn1029Ser
  • NP_001394531.1:p.Asn1029Ser
  • NP_001394532.1:p.Asn1029Ser
  • NP_001394534.1:p.Asn1029Ser
  • NP_001394539.1:p.Asn1028Ser
  • NP_001394540.1:p.Asn1028Ser
  • NP_001394541.1:p.Asn1028Ser
  • NP_001394542.1:p.Asn1028Ser
  • NP_001394543.1:p.Asn1028Ser
  • NP_001394544.1:p.Asn1028Ser
  • NP_001394545.1:p.Asn1029Ser
  • NP_001394546.1:p.Asn1029Ser
  • NP_001394547.1:p.Asn1029Ser
  • NP_001394548.1:p.Asn1029Ser
  • NP_001394549.1:p.Asn1029Ser
  • NP_001394550.1:p.Asn1029Ser
  • NP_001394551.1:p.Asn1029Ser
  • NP_001394552.1:p.Asn1029Ser
  • NP_001394553.1:p.Asn1029Ser
  • NP_001394554.1:p.Asn1029Ser
  • NP_001394555.1:p.Asn1029Ser
  • NP_001394556.1:p.Asn1028Ser
  • NP_001394557.1:p.Asn1028Ser
  • NP_001394558.1:p.Asn1028Ser
  • NP_001394559.1:p.Asn1028Ser
  • NP_001394560.1:p.Asn1028Ser
  • NP_001394561.1:p.Asn1028Ser
  • NP_001394562.1:p.Asn1028Ser
  • NP_001394563.1:p.Asn1028Ser
  • NP_001394564.1:p.Asn1028Ser
  • NP_001394565.1:p.Asn1028Ser
  • NP_001394566.1:p.Asn1028Ser
  • NP_001394567.1:p.Asn1028Ser
  • NP_001394568.1:p.Asn1029Ser
  • NP_001394569.1:p.Asn1029Ser
  • NP_001394570.1:p.Asn1029Ser
  • NP_001394571.1:p.Asn1029Ser
  • NP_001394573.1:p.Asn1028Ser
  • NP_001394574.1:p.Asn1028Ser
  • NP_001394575.1:p.Asn1026Ser
  • NP_001394576.1:p.Asn1026Ser
  • NP_001394577.1:p.Asn988Ser
  • NP_001394578.1:p.Asn987Ser
  • NP_001394581.1:p.Asn1029Ser
  • NP_001394582.1:p.Asn1003Ser
  • NP_001394583.1:p.Asn1003Ser
  • NP_001394584.1:p.Asn1003Ser
  • NP_001394585.1:p.Asn1003Ser
  • NP_001394586.1:p.Asn1003Ser
  • NP_001394587.1:p.Asn1003Ser
  • NP_001394588.1:p.Asn1002Ser
  • NP_001394589.1:p.Asn1002Ser
  • NP_001394590.1:p.Asn1002Ser
  • NP_001394591.1:p.Asn1002Ser
  • NP_001394592.1:p.Asn1003Ser
  • NP_001394593.1:p.Asn988Ser
  • NP_001394594.1:p.Asn988Ser
  • NP_001394595.1:p.Asn988Ser
  • NP_001394596.1:p.Asn988Ser
  • NP_001394597.1:p.Asn988Ser
  • NP_001394598.1:p.Asn988Ser
  • NP_001394599.1:p.Asn987Ser
  • NP_001394600.1:p.Asn987Ser
  • NP_001394601.1:p.Asn987Ser
  • NP_001394602.1:p.Asn987Ser
  • NP_001394603.1:p.Asn988Ser
  • NP_001394604.1:p.Asn988Ser
  • NP_001394605.1:p.Asn988Ser
  • NP_001394606.1:p.Asn988Ser
  • NP_001394607.1:p.Asn988Ser
  • NP_001394608.1:p.Asn988Ser
  • NP_001394609.1:p.Asn988Ser
  • NP_001394610.1:p.Asn988Ser
  • NP_001394611.1:p.Asn988Ser
  • NP_001394612.1:p.Asn988Ser
  • NP_001394613.1:p.Asn1029Ser
  • NP_001394614.1:p.Asn987Ser
  • NP_001394615.1:p.Asn987Ser
  • NP_001394616.1:p.Asn987Ser
  • NP_001394617.1:p.Asn987Ser
  • NP_001394618.1:p.Asn987Ser
  • NP_001394619.1:p.Asn987Ser
  • NP_001394620.1:p.Asn987Ser
  • NP_001394621.1:p.Asn982Ser
  • NP_001394623.1:p.Asn982Ser
  • NP_001394624.1:p.Asn982Ser
  • NP_001394625.1:p.Asn982Ser
  • NP_001394626.1:p.Asn982Ser
  • NP_001394627.1:p.Asn982Ser
  • NP_001394653.1:p.Asn982Ser
  • NP_001394654.1:p.Asn982Ser
  • NP_001394655.1:p.Asn982Ser
  • NP_001394656.1:p.Asn982Ser
  • NP_001394657.1:p.Asn982Ser
  • NP_001394658.1:p.Asn982Ser
  • NP_001394659.1:p.Asn982Ser
  • NP_001394660.1:p.Asn982Ser
  • NP_001394661.1:p.Asn982Ser
  • NP_001394662.1:p.Asn982Ser
  • NP_001394663.1:p.Asn982Ser
  • NP_001394664.1:p.Asn982Ser
  • NP_001394665.1:p.Asn982Ser
  • NP_001394666.1:p.Asn982Ser
  • NP_001394667.1:p.Asn982Ser
  • NP_001394668.1:p.Asn982Ser
  • NP_001394669.1:p.Asn981Ser
  • NP_001394670.1:p.Asn981Ser
  • NP_001394671.1:p.Asn981Ser
  • NP_001394672.1:p.Asn981Ser
  • NP_001394673.1:p.Asn981Ser
  • NP_001394674.1:p.Asn981Ser
  • NP_001394675.1:p.Asn981Ser
  • NP_001394676.1:p.Asn981Ser
  • NP_001394677.1:p.Asn981Ser
  • NP_001394678.1:p.Asn981Ser
  • NP_001394679.1:p.Asn982Ser
  • NP_001394680.1:p.Asn982Ser
  • NP_001394681.1:p.Asn982Ser
  • NP_001394767.1:p.Asn981Ser
  • NP_001394768.1:p.Asn981Ser
  • NP_001394770.1:p.Asn981Ser
  • NP_001394771.1:p.Asn981Ser
  • NP_001394772.1:p.Asn981Ser
  • NP_001394773.1:p.Asn981Ser
  • NP_001394774.1:p.Asn981Ser
  • NP_001394775.1:p.Asn981Ser
  • NP_001394776.1:p.Asn981Ser
  • NP_001394777.1:p.Asn981Ser
  • NP_001394778.1:p.Asn981Ser
  • NP_001394779.1:p.Asn982Ser
  • NP_001394780.1:p.Asn982Ser
  • NP_001394781.1:p.Asn982Ser
  • NP_001394782.1:p.Asn958Ser
  • NP_001394783.1:p.Asn1029Ser
  • NP_001394787.1:p.Asn1029Ser
  • NP_001394788.1:p.Asn1029Ser
  • NP_001394789.1:p.Asn1028Ser
  • NP_001394790.1:p.Asn1028Ser
  • NP_001394791.1:p.Asn962Ser
  • NP_001394792.1:p.Asn988Ser
  • NP_001394803.1:p.Asn961Ser
  • NP_001394804.1:p.Asn961Ser
  • NP_001394808.1:p.Asn959Ser
  • NP_001394810.1:p.Asn959Ser
  • NP_001394811.1:p.Asn959Ser
  • NP_001394813.1:p.Asn959Ser
  • NP_001394814.1:p.Asn959Ser
  • NP_001394815.1:p.Asn959Ser
  • NP_001394816.1:p.Asn959Ser
  • NP_001394818.1:p.Asn959Ser
  • NP_001394823.1:p.Asn958Ser
  • NP_001394824.1:p.Asn958Ser
  • NP_001394825.1:p.Asn958Ser
  • NP_001394826.1:p.Asn958Ser
  • NP_001394827.1:p.Asn958Ser
  • NP_001394828.1:p.Asn958Ser
  • NP_001394829.1:p.Asn959Ser
  • NP_001394831.1:p.Asn959Ser
  • NP_001394833.1:p.Asn959Ser
  • NP_001394835.1:p.Asn959Ser
  • NP_001394836.1:p.Asn959Ser
  • NP_001394837.1:p.Asn959Ser
  • NP_001394838.1:p.Asn959Ser
  • NP_001394839.1:p.Asn959Ser
  • NP_001394844.1:p.Asn958Ser
  • NP_001394845.1:p.Asn958Ser
  • NP_001394846.1:p.Asn958Ser
  • NP_001394847.1:p.Asn958Ser
  • NP_001394848.1:p.Asn988Ser
  • NP_001394849.1:p.Asn941Ser
  • NP_001394850.1:p.Asn941Ser
  • NP_001394851.1:p.Asn941Ser
  • NP_001394852.1:p.Asn941Ser
  • NP_001394853.1:p.Asn941Ser
  • NP_001394854.1:p.Asn941Ser
  • NP_001394855.1:p.Asn941Ser
  • NP_001394856.1:p.Asn941Ser
  • NP_001394857.1:p.Asn941Ser
  • NP_001394858.1:p.Asn941Ser
  • NP_001394859.1:p.Asn940Ser
  • NP_001394860.1:p.Asn940Ser
  • NP_001394861.1:p.Asn940Ser
  • NP_001394862.1:p.Asn941Ser
  • NP_001394863.1:p.Asn940Ser
  • NP_001394864.1:p.Asn941Ser
  • NP_001394865.1:p.Asn940Ser
  • NP_001394866.1:p.Asn988Ser
  • NP_001394867.1:p.Asn988Ser
  • NP_001394868.1:p.Asn988Ser
  • NP_001394869.1:p.Asn987Ser
  • NP_001394870.1:p.Asn987Ser
  • NP_001394871.1:p.Asn982Ser
  • NP_001394872.1:p.Asn981Ser
  • NP_001394873.1:p.Asn982Ser
  • NP_001394874.1:p.Asn982Ser
  • NP_001394875.1:p.Asn918Ser
  • NP_001394876.1:p.Asn918Ser
  • NP_001394877.1:p.Asn918Ser
  • NP_001394878.1:p.Asn918Ser
  • NP_001394879.1:p.Asn918Ser
  • NP_001394880.1:p.Asn918Ser
  • NP_001394881.1:p.Asn918Ser
  • NP_001394882.1:p.Asn918Ser
  • NP_001394883.1:p.Asn917Ser
  • NP_001394884.1:p.Asn917Ser
  • NP_001394885.1:p.Asn917Ser
  • NP_001394886.1:p.Asn918Ser
  • NP_001394887.1:p.Asn917Ser
  • NP_001394888.1:p.Asn902Ser
  • NP_001394889.1:p.Asn902Ser
  • NP_001394891.1:p.Asn901Ser
  • NP_001394892.1:p.Asn902Ser
  • NP_001394893.1:p.Asn981Ser
  • NP_001394894.1:p.Asn861Ser
  • NP_001394895.1:p.Asn733Ser
  • NP_001394896.1:p.Asn733Ser
  • NP_009225.1:p.Asn1029Ser
  • NP_009225.1:p.Asn1029Ser
  • NP_009228.2:p.Asn982Ser
  • NP_009231.2:p.Asn1029Ser
  • LRG_292t1:c.3086A>G
  • LRG_292:g.125539A>G
  • LRG_292p1:p.Asn1029Ser
  • NC_000017.10:g.41244462T>C
  • NM_007294.3:c.3086A>G
  • NR_027676.1:n.3222A>G
Protein change:
N1002S
Links:
dbSNP: rs753286589
NCBI 1000 Genomes Browser:
rs753286589
Molecular consequence:
  • NM_001407968.1:c.788-306A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-306A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1422A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1413A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3077A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3077A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3005A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3005A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3005A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3005A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3008A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3083A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2885A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2819A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2819A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2819A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2819A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2819A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2960A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2705A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2705A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2702A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2705A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2582A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2198A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2198A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3086A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001552792Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

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no assertion criteria provided
Uncertain significanceunknownclinical testing

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Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001552792.1

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

Description

The BRCA1 p.Asn1029Ser variant was not identified in the literature nor was it identified in the following databases: ClinVar, GeneInsight-COGR, Cosmic, MutDB, LOVD 3.0, BIC Database, ARUP Laboratories, Zhejiang Colon Cancer Database, databases. The variant was identified in dbSNP (ID: rs753286589) as “NA”, and UMD-LSDB (1 x, as 3-UV, co-occurring with a BRCA1 variant of uncertain significance c.3185G>T, p.Gly1062Val). The variant was also identified by our laboratory in 1 individual with a co-occurring uncertain significance variant of BRCA1 (c.3185G>T, p.Gly1062Val), as noted in UMD database. The variant was identified in control databases in 2 of 245930 chromosomes at a frequency of 0.000008 (Genome Aggregation Consortium Feb 27, 2017). The p.Asn1029 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Sep 29, 2024