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NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 24, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002338789.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn)]

NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn)

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.118G>A (p.Asp40Asn)
HGVS:
  • NC_000017.11:g.43115742C>T
  • NG_005905.2:g.102242G>A
  • NM_001407571.1:c.-71G>A
  • NM_001407581.1:c.118G>A
  • NM_001407582.1:c.118G>A
  • NM_001407583.1:c.118G>A
  • NM_001407585.1:c.118G>A
  • NM_001407587.1:c.118G>A
  • NM_001407590.1:c.118G>A
  • NM_001407591.1:c.118G>A
  • NM_001407593.1:c.118G>A
  • NM_001407594.1:c.118G>A
  • NM_001407596.1:c.118G>A
  • NM_001407597.1:c.118G>A
  • NM_001407598.1:c.118G>A
  • NM_001407602.1:c.118G>A
  • NM_001407603.1:c.118G>A
  • NM_001407605.1:c.118G>A
  • NM_001407610.1:c.118G>A
  • NM_001407611.1:c.118G>A
  • NM_001407612.1:c.118G>A
  • NM_001407613.1:c.118G>A
  • NM_001407614.1:c.118G>A
  • NM_001407615.1:c.118G>A
  • NM_001407616.1:c.118G>A
  • NM_001407617.1:c.118G>A
  • NM_001407618.1:c.118G>A
  • NM_001407619.1:c.118G>A
  • NM_001407620.1:c.118G>A
  • NM_001407621.1:c.118G>A
  • NM_001407622.1:c.118G>A
  • NM_001407623.1:c.118G>A
  • NM_001407624.1:c.118G>A
  • NM_001407625.1:c.118G>A
  • NM_001407626.1:c.118G>A
  • NM_001407627.1:c.118G>A
  • NM_001407628.1:c.118G>A
  • NM_001407629.1:c.118G>A
  • NM_001407630.1:c.118G>A
  • NM_001407631.1:c.118G>A
  • NM_001407632.1:c.118G>A
  • NM_001407633.1:c.118G>A
  • NM_001407634.1:c.118G>A
  • NM_001407635.1:c.118G>A
  • NM_001407636.1:c.118G>A
  • NM_001407637.1:c.118G>A
  • NM_001407638.1:c.118G>A
  • NM_001407639.1:c.118G>A
  • NM_001407640.1:c.118G>A
  • NM_001407641.1:c.118G>A
  • NM_001407642.1:c.118G>A
  • NM_001407644.1:c.118G>A
  • NM_001407645.1:c.118G>A
  • NM_001407646.1:c.118G>A
  • NM_001407647.1:c.118G>A
  • NM_001407648.1:c.118G>A
  • NM_001407649.1:c.118G>A
  • NM_001407652.1:c.118G>A
  • NM_001407653.1:c.118G>A
  • NM_001407654.1:c.118G>A
  • NM_001407655.1:c.118G>A
  • NM_001407656.1:c.118G>A
  • NM_001407657.1:c.118G>A
  • NM_001407658.1:c.118G>A
  • NM_001407659.1:c.118G>A
  • NM_001407660.1:c.118G>A
  • NM_001407661.1:c.118G>A
  • NM_001407662.1:c.118G>A
  • NM_001407663.1:c.118G>A
  • NM_001407664.1:c.118G>A
  • NM_001407665.1:c.118G>A
  • NM_001407666.1:c.118G>A
  • NM_001407667.1:c.118G>A
  • NM_001407668.1:c.118G>A
  • NM_001407669.1:c.118G>A
  • NM_001407670.1:c.118G>A
  • NM_001407671.1:c.118G>A
  • NM_001407672.1:c.118G>A
  • NM_001407673.1:c.118G>A
  • NM_001407674.1:c.118G>A
  • NM_001407675.1:c.118G>A
  • NM_001407676.1:c.118G>A
  • NM_001407677.1:c.118G>A
  • NM_001407678.1:c.118G>A
  • NM_001407679.1:c.118G>A
  • NM_001407680.1:c.118G>A
  • NM_001407681.1:c.118G>A
  • NM_001407682.1:c.118G>A
  • NM_001407683.1:c.118G>A
  • NM_001407684.1:c.118G>A
  • NM_001407685.1:c.118G>A
  • NM_001407686.1:c.118G>A
  • NM_001407687.1:c.118G>A
  • NM_001407688.1:c.118G>A
  • NM_001407689.1:c.118G>A
  • NM_001407690.1:c.118G>A
  • NM_001407691.1:c.118G>A
  • NM_001407694.1:c.-140G>A
  • NM_001407695.1:c.-144G>A
  • NM_001407696.1:c.-140G>A
  • NM_001407697.1:c.-24G>A
  • NM_001407724.1:c.-140G>A
  • NM_001407725.1:c.-24G>A
  • NM_001407727.1:c.-140G>A
  • NM_001407728.1:c.-24G>A
  • NM_001407729.1:c.-24G>A
  • NM_001407730.1:c.-24G>A
  • NM_001407731.1:c.-140G>A
  • NM_001407733.1:c.-140G>A
  • NM_001407734.1:c.-24G>A
  • NM_001407735.1:c.-24G>A
  • NM_001407737.1:c.-24G>A
  • NM_001407739.1:c.-24G>A
  • NM_001407740.1:c.-24G>A
  • NM_001407741.1:c.-24G>A
  • NM_001407743.1:c.-24G>A
  • NM_001407745.1:c.-24G>A
  • NM_001407746.1:c.-140G>A
  • NM_001407748.1:c.-24G>A
  • NM_001407749.1:c.-140G>A
  • NM_001407752.1:c.-24G>A
  • NM_001407838.1:c.-24G>A
  • NM_001407839.1:c.-24G>A
  • NM_001407841.1:c.-20G>A
  • NM_001407842.1:c.-140G>A
  • NM_001407843.1:c.-140G>A
  • NM_001407844.1:c.-24G>A
  • NM_001407846.1:c.-24G>A
  • NM_001407847.1:c.-24G>A
  • NM_001407848.1:c.-24G>A
  • NM_001407850.1:c.-24G>A
  • NM_001407851.1:c.-24G>A
  • NM_001407853.1:c.-71G>A
  • NM_001407854.1:c.118G>A
  • NM_001407858.1:c.118G>A
  • NM_001407859.1:c.118G>A
  • NM_001407860.1:c.118G>A
  • NM_001407861.1:c.118G>A
  • NM_001407862.1:c.118G>A
  • NM_001407863.1:c.118G>A
  • NM_001407874.1:c.118G>A
  • NM_001407875.1:c.118G>A
  • NM_001407879.1:c.-71G>A
  • NM_001407882.1:c.-71G>A
  • NM_001407884.1:c.-71G>A
  • NM_001407885.1:c.-71G>A
  • NM_001407886.1:c.-71G>A
  • NM_001407887.1:c.-71G>A
  • NM_001407889.1:c.-187G>A
  • NM_001407894.1:c.-71G>A
  • NM_001407895.1:c.-71G>A
  • NM_001407896.1:c.-71G>A
  • NM_001407897.1:c.-71G>A
  • NM_001407899.1:c.-71G>A
  • NM_001407900.1:c.-187G>A
  • NM_001407904.1:c.-71G>A
  • NM_001407906.1:c.-71G>A
  • NM_001407907.1:c.-71G>A
  • NM_001407908.1:c.-71G>A
  • NM_001407909.1:c.-71G>A
  • NM_001407910.1:c.-71G>A
  • NM_001407915.1:c.-71G>A
  • NM_001407916.1:c.-71G>A
  • NM_001407917.1:c.-71G>A
  • NM_001407918.1:c.-71G>A
  • NM_001407919.1:c.118G>A
  • NM_001407920.1:c.-24G>A
  • NM_001407921.1:c.-24G>A
  • NM_001407922.1:c.-24G>A
  • NM_001407923.1:c.-24G>A
  • NM_001407926.1:c.-24G>A
  • NM_001407927.1:c.-24G>A
  • NM_001407930.1:c.-140G>A
  • NM_001407933.1:c.-24G>A
  • NM_001407934.1:c.-24G>A
  • NM_001407935.1:c.-24G>A
  • NM_001407937.1:c.118G>A
  • NM_001407938.1:c.118G>A
  • NM_001407939.1:c.118G>A
  • NM_001407940.1:c.118G>A
  • NM_001407941.1:c.118G>A
  • NM_001407942.1:c.-140G>A
  • NM_001407943.1:c.-24G>A
  • NM_001407944.1:c.-24G>A
  • NM_001407946.1:c.-71G>A
  • NM_001407947.1:c.-71G>A
  • NM_001407948.1:c.-71G>A
  • NM_001407949.1:c.-71G>A
  • NM_001407950.1:c.-71G>A
  • NM_001407951.1:c.-71G>A
  • NM_001407952.1:c.-71G>A
  • NM_001407953.1:c.-71G>A
  • NM_001407954.1:c.-71G>A
  • NM_001407955.1:c.-71G>A
  • NM_001407956.1:c.-71G>A
  • NM_001407957.1:c.-71G>A
  • NM_001407958.1:c.-71G>A
  • NM_001407960.1:c.-186G>A
  • NM_001407962.1:c.-186G>A
  • NM_001407964.1:c.-24G>A
  • NM_001407965.1:c.-302G>A
  • NM_001407968.1:c.118G>A
  • NM_001407969.1:c.118G>A
  • NM_001407970.1:c.118G>A
  • NM_001407971.1:c.118G>A
  • NM_001407972.1:c.118G>A
  • NM_001407973.1:c.118G>A
  • NM_001407974.1:c.118G>A
  • NM_001407975.1:c.118G>A
  • NM_001407976.1:c.118G>A
  • NM_001407977.1:c.118G>A
  • NM_001407978.1:c.118G>A
  • NM_001407979.1:c.118G>A
  • NM_001407980.1:c.118G>A
  • NM_001407981.1:c.118G>A
  • NM_001407982.1:c.118G>A
  • NM_001407983.1:c.118G>A
  • NM_001407984.1:c.118G>A
  • NM_001407985.1:c.118G>A
  • NM_001407986.1:c.118G>A
  • NM_001407990.1:c.118G>A
  • NM_001407991.1:c.118G>A
  • NM_001407992.1:c.118G>A
  • NM_001407993.1:c.118G>A
  • NM_001408392.1:c.118G>A
  • NM_001408396.1:c.118G>A
  • NM_001408397.1:c.118G>A
  • NM_001408398.1:c.118G>A
  • NM_001408399.1:c.118G>A
  • NM_001408400.1:c.118G>A
  • NM_001408401.1:c.118G>A
  • NM_001408402.1:c.118G>A
  • NM_001408403.1:c.118G>A
  • NM_001408404.1:c.118G>A
  • NM_001408406.1:c.118G>A
  • NM_001408407.1:c.118G>A
  • NM_001408408.1:c.118G>A
  • NM_001408409.1:c.118G>A
  • NM_001408410.1:c.-24G>A
  • NM_001408411.1:c.118G>A
  • NM_001408412.1:c.118G>A
  • NM_001408413.1:c.118G>A
  • NM_001408414.1:c.118G>A
  • NM_001408415.1:c.118G>A
  • NM_001408416.1:c.118G>A
  • NM_001408418.1:c.118G>A
  • NM_001408419.1:c.118G>A
  • NM_001408420.1:c.118G>A
  • NM_001408421.1:c.118G>A
  • NM_001408422.1:c.118G>A
  • NM_001408423.1:c.118G>A
  • NM_001408424.1:c.118G>A
  • NM_001408425.1:c.118G>A
  • NM_001408426.1:c.118G>A
  • NM_001408427.1:c.118G>A
  • NM_001408428.1:c.118G>A
  • NM_001408429.1:c.118G>A
  • NM_001408430.1:c.118G>A
  • NM_001408431.1:c.118G>A
  • NM_001408432.1:c.118G>A
  • NM_001408433.1:c.118G>A
  • NM_001408434.1:c.118G>A
  • NM_001408435.1:c.118G>A
  • NM_001408436.1:c.118G>A
  • NM_001408437.1:c.118G>A
  • NM_001408438.1:c.118G>A
  • NM_001408439.1:c.118G>A
  • NM_001408440.1:c.118G>A
  • NM_001408441.1:c.118G>A
  • NM_001408442.1:c.118G>A
  • NM_001408443.1:c.118G>A
  • NM_001408444.1:c.118G>A
  • NM_001408445.1:c.118G>A
  • NM_001408446.1:c.118G>A
  • NM_001408447.1:c.118G>A
  • NM_001408448.1:c.118G>A
  • NM_001408450.1:c.118G>A
  • NM_001408452.1:c.-24G>A
  • NM_001408453.1:c.-24G>A
  • NM_001408455.1:c.-140G>A
  • NM_001408456.1:c.-140G>A
  • NM_001408458.1:c.-24G>A
  • NM_001408462.1:c.-24G>A
  • NM_001408463.1:c.-24G>A
  • NM_001408465.1:c.-144G>A
  • NM_001408466.1:c.-24G>A
  • NM_001408468.1:c.-140G>A
  • NM_001408469.1:c.-24G>A
  • NM_001408470.1:c.-24G>A
  • NM_001408472.1:c.118G>A
  • NM_001408473.1:c.118G>A
  • NM_001408474.1:c.118G>A
  • NM_001408475.1:c.118G>A
  • NM_001408476.1:c.118G>A
  • NM_001408478.1:c.-71G>A
  • NM_001408479.1:c.-71G>A
  • NM_001408480.1:c.-71G>A
  • NM_001408481.1:c.-71G>A
  • NM_001408482.1:c.-71G>A
  • NM_001408483.1:c.-71G>A
  • NM_001408484.1:c.-71G>A
  • NM_001408485.1:c.-71G>A
  • NM_001408489.1:c.-71G>A
  • NM_001408490.1:c.-71G>A
  • NM_001408491.1:c.-71G>A
  • NM_001408492.1:c.-187G>A
  • NM_001408493.1:c.-71G>A
  • NM_001408494.1:c.118G>A
  • NM_001408495.1:c.118G>A
  • NM_001408497.1:c.-24G>A
  • NM_001408499.1:c.-24G>A
  • NM_001408500.1:c.-24G>A
  • NM_001408501.1:c.-140G>A
  • NM_001408502.1:c.-71G>A
  • NM_001408503.1:c.-24G>A
  • NM_001408504.1:c.-24G>A
  • NM_001408505.1:c.-24G>A
  • NM_001408506.1:c.-71G>A
  • NM_001408507.1:c.-71G>A
  • NM_001408508.1:c.-71G>A
  • NM_001408509.1:c.-71G>A
  • NM_001408510.1:c.-186G>A
  • NM_001408512.1:c.-186G>A
  • NM_001408513.1:c.-71G>A
  • NM_001408514.1:c.-71G>A
  • NM_007294.4:c.118G>AMANE SELECT
  • NM_007297.4:c.-8+8275G>A
  • NM_007298.4:c.118G>A
  • NM_007299.4:c.118G>A
  • NM_007300.4:c.118G>A
  • NM_007304.2:c.118G>A
  • NP_001394510.1:p.Asp40Asn
  • NP_001394511.1:p.Asp40Asn
  • NP_001394512.1:p.Asp40Asn
  • NP_001394514.1:p.Asp40Asn
  • NP_001394516.1:p.Asp40Asn
  • NP_001394519.1:p.Asp40Asn
  • NP_001394520.1:p.Asp40Asn
  • NP_001394522.1:p.Asp40Asn
  • NP_001394523.1:p.Asp40Asn
  • NP_001394525.1:p.Asp40Asn
  • NP_001394526.1:p.Asp40Asn
  • NP_001394527.1:p.Asp40Asn
  • NP_001394531.1:p.Asp40Asn
  • NP_001394532.1:p.Asp40Asn
  • NP_001394534.1:p.Asp40Asn
  • NP_001394539.1:p.Asp40Asn
  • NP_001394540.1:p.Asp40Asn
  • NP_001394541.1:p.Asp40Asn
  • NP_001394542.1:p.Asp40Asn
  • NP_001394543.1:p.Asp40Asn
  • NP_001394544.1:p.Asp40Asn
  • NP_001394545.1:p.Asp40Asn
  • NP_001394546.1:p.Asp40Asn
  • NP_001394547.1:p.Asp40Asn
  • NP_001394548.1:p.Asp40Asn
  • NP_001394549.1:p.Asp40Asn
  • NP_001394550.1:p.Asp40Asn
  • NP_001394551.1:p.Asp40Asn
  • NP_001394552.1:p.Asp40Asn
  • NP_001394553.1:p.Asp40Asn
  • NP_001394554.1:p.Asp40Asn
  • NP_001394555.1:p.Asp40Asn
  • NP_001394556.1:p.Asp40Asn
  • NP_001394557.1:p.Asp40Asn
  • NP_001394558.1:p.Asp40Asn
  • NP_001394559.1:p.Asp40Asn
  • NP_001394560.1:p.Asp40Asn
  • NP_001394561.1:p.Asp40Asn
  • NP_001394562.1:p.Asp40Asn
  • NP_001394563.1:p.Asp40Asn
  • NP_001394564.1:p.Asp40Asn
  • NP_001394565.1:p.Asp40Asn
  • NP_001394566.1:p.Asp40Asn
  • NP_001394567.1:p.Asp40Asn
  • NP_001394568.1:p.Asp40Asn
  • NP_001394569.1:p.Asp40Asn
  • NP_001394570.1:p.Asp40Asn
  • NP_001394571.1:p.Asp40Asn
  • NP_001394573.1:p.Asp40Asn
  • NP_001394574.1:p.Asp40Asn
  • NP_001394575.1:p.Asp40Asn
  • NP_001394576.1:p.Asp40Asn
  • NP_001394577.1:p.Asp40Asn
  • NP_001394578.1:p.Asp40Asn
  • NP_001394581.1:p.Asp40Asn
  • NP_001394582.1:p.Asp40Asn
  • NP_001394583.1:p.Asp40Asn
  • NP_001394584.1:p.Asp40Asn
  • NP_001394585.1:p.Asp40Asn
  • NP_001394586.1:p.Asp40Asn
  • NP_001394587.1:p.Asp40Asn
  • NP_001394588.1:p.Asp40Asn
  • NP_001394589.1:p.Asp40Asn
  • NP_001394590.1:p.Asp40Asn
  • NP_001394591.1:p.Asp40Asn
  • NP_001394592.1:p.Asp40Asn
  • NP_001394593.1:p.Asp40Asn
  • NP_001394594.1:p.Asp40Asn
  • NP_001394595.1:p.Asp40Asn
  • NP_001394596.1:p.Asp40Asn
  • NP_001394597.1:p.Asp40Asn
  • NP_001394598.1:p.Asp40Asn
  • NP_001394599.1:p.Asp40Asn
  • NP_001394600.1:p.Asp40Asn
  • NP_001394601.1:p.Asp40Asn
  • NP_001394602.1:p.Asp40Asn
  • NP_001394603.1:p.Asp40Asn
  • NP_001394604.1:p.Asp40Asn
  • NP_001394605.1:p.Asp40Asn
  • NP_001394606.1:p.Asp40Asn
  • NP_001394607.1:p.Asp40Asn
  • NP_001394608.1:p.Asp40Asn
  • NP_001394609.1:p.Asp40Asn
  • NP_001394610.1:p.Asp40Asn
  • NP_001394611.1:p.Asp40Asn
  • NP_001394612.1:p.Asp40Asn
  • NP_001394613.1:p.Asp40Asn
  • NP_001394614.1:p.Asp40Asn
  • NP_001394615.1:p.Asp40Asn
  • NP_001394616.1:p.Asp40Asn
  • NP_001394617.1:p.Asp40Asn
  • NP_001394618.1:p.Asp40Asn
  • NP_001394619.1:p.Asp40Asn
  • NP_001394620.1:p.Asp40Asn
  • NP_001394783.1:p.Asp40Asn
  • NP_001394787.1:p.Asp40Asn
  • NP_001394788.1:p.Asp40Asn
  • NP_001394789.1:p.Asp40Asn
  • NP_001394790.1:p.Asp40Asn
  • NP_001394791.1:p.Asp40Asn
  • NP_001394792.1:p.Asp40Asn
  • NP_001394803.1:p.Asp40Asn
  • NP_001394804.1:p.Asp40Asn
  • NP_001394848.1:p.Asp40Asn
  • NP_001394866.1:p.Asp40Asn
  • NP_001394867.1:p.Asp40Asn
  • NP_001394868.1:p.Asp40Asn
  • NP_001394869.1:p.Asp40Asn
  • NP_001394870.1:p.Asp40Asn
  • NP_001394897.1:p.Asp40Asn
  • NP_001394898.1:p.Asp40Asn
  • NP_001394899.1:p.Asp40Asn
  • NP_001394900.1:p.Asp40Asn
  • NP_001394901.1:p.Asp40Asn
  • NP_001394902.1:p.Asp40Asn
  • NP_001394903.1:p.Asp40Asn
  • NP_001394904.1:p.Asp40Asn
  • NP_001394905.1:p.Asp40Asn
  • NP_001394906.1:p.Asp40Asn
  • NP_001394907.1:p.Asp40Asn
  • NP_001394908.1:p.Asp40Asn
  • NP_001394909.1:p.Asp40Asn
  • NP_001394910.1:p.Asp40Asn
  • NP_001394911.1:p.Asp40Asn
  • NP_001394912.1:p.Asp40Asn
  • NP_001394913.1:p.Asp40Asn
  • NP_001394914.1:p.Asp40Asn
  • NP_001394915.1:p.Asp40Asn
  • NP_001394919.1:p.Asp40Asn
  • NP_001394920.1:p.Asp40Asn
  • NP_001394921.1:p.Asp40Asn
  • NP_001394922.1:p.Asp40Asn
  • NP_001395321.1:p.Asp40Asn
  • NP_001395325.1:p.Asp40Asn
  • NP_001395326.1:p.Asp40Asn
  • NP_001395327.1:p.Asp40Asn
  • NP_001395328.1:p.Asp40Asn
  • NP_001395329.1:p.Asp40Asn
  • NP_001395330.1:p.Asp40Asn
  • NP_001395331.1:p.Asp40Asn
  • NP_001395332.1:p.Asp40Asn
  • NP_001395333.1:p.Asp40Asn
  • NP_001395335.1:p.Asp40Asn
  • NP_001395336.1:p.Asp40Asn
  • NP_001395337.1:p.Asp40Asn
  • NP_001395338.1:p.Asp40Asn
  • NP_001395340.1:p.Asp40Asn
  • NP_001395341.1:p.Asp40Asn
  • NP_001395342.1:p.Asp40Asn
  • NP_001395343.1:p.Asp40Asn
  • NP_001395344.1:p.Asp40Asn
  • NP_001395345.1:p.Asp40Asn
  • NP_001395347.1:p.Asp40Asn
  • NP_001395348.1:p.Asp40Asn
  • NP_001395349.1:p.Asp40Asn
  • NP_001395350.1:p.Asp40Asn
  • NP_001395351.1:p.Asp40Asn
  • NP_001395352.1:p.Asp40Asn
  • NP_001395353.1:p.Asp40Asn
  • NP_001395354.1:p.Asp40Asn
  • NP_001395355.1:p.Asp40Asn
  • NP_001395356.1:p.Asp40Asn
  • NP_001395357.1:p.Asp40Asn
  • NP_001395358.1:p.Asp40Asn
  • NP_001395359.1:p.Asp40Asn
  • NP_001395360.1:p.Asp40Asn
  • NP_001395361.1:p.Asp40Asn
  • NP_001395362.1:p.Asp40Asn
  • NP_001395363.1:p.Asp40Asn
  • NP_001395364.1:p.Asp40Asn
  • NP_001395365.1:p.Asp40Asn
  • NP_001395366.1:p.Asp40Asn
  • NP_001395367.1:p.Asp40Asn
  • NP_001395368.1:p.Asp40Asn
  • NP_001395369.1:p.Asp40Asn
  • NP_001395370.1:p.Asp40Asn
  • NP_001395371.1:p.Asp40Asn
  • NP_001395372.1:p.Asp40Asn
  • NP_001395373.1:p.Asp40Asn
  • NP_001395374.1:p.Asp40Asn
  • NP_001395375.1:p.Asp40Asn
  • NP_001395376.1:p.Asp40Asn
  • NP_001395377.1:p.Asp40Asn
  • NP_001395379.1:p.Asp40Asn
  • NP_001395401.1:p.Asp40Asn
  • NP_001395402.1:p.Asp40Asn
  • NP_001395403.1:p.Asp40Asn
  • NP_001395404.1:p.Asp40Asn
  • NP_001395405.1:p.Asp40Asn
  • NP_001395423.1:p.Asp40Asn
  • NP_001395424.1:p.Asp40Asn
  • NP_009225.1:p.Asp40Asn
  • NP_009225.1:p.Asp40Asn
  • NP_009229.2:p.Asp40Asn
  • NP_009229.2:p.Asp40Asn
  • NP_009230.2:p.Asp40Asn
  • NP_009231.2:p.Asp40Asn
  • NP_009235.2:p.Asp40Asn
  • LRG_292t1:c.118G>A
  • LRG_292:g.102242G>A
  • LRG_292p1:p.Asp40Asn
  • NC_000017.10:g.41267759C>T
  • NM_007294.3:c.118G>A
  • NM_007298.3:c.118G>A
  • NR_027676.2:n.320G>A
Protein change:
D40N
Links:
dbSNP: rs879255290
NCBI 1000 Genomes Browser:
rs879255290
Molecular consequence:
  • NM_007297.4:c.-8+8275G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.320G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002643528Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 24, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Ambry Genetics, SCV002643528.3

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

Description

The p.D40N variant (also known as c.118G>A), located in coding exon 2 of the BRCA1 gene, results from a G to A substitution at nucleotide position 118. The aspartic acid at codon 40 is replaced by asparagine, an amino acid with highly similar properties. One functional study found the significance of this nucleotide substitution to be uncertain in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.

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

Last Updated: Jun 23, 2024