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NM_007294.4(BRCA1):c.98A>C (p.Glu33Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 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:
RCV000214380.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.98A>C (p.Glu33Ala)]

NM_007294.4(BRCA1):c.98A>C (p.Glu33Ala)

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.98A>C (p.Glu33Ala)
HGVS:
  • NC_000017.11:g.43115762T>G
  • NG_005905.2:g.102222A>C
  • NM_001407571.1:c.-91A>C
  • NM_001407581.1:c.98A>C
  • NM_001407582.1:c.98A>C
  • NM_001407583.1:c.98A>C
  • NM_001407585.1:c.98A>C
  • NM_001407587.1:c.98A>C
  • NM_001407590.1:c.98A>C
  • NM_001407591.1:c.98A>C
  • NM_001407593.1:c.98A>C
  • NM_001407594.1:c.98A>C
  • NM_001407596.1:c.98A>C
  • NM_001407597.1:c.98A>C
  • NM_001407598.1:c.98A>C
  • NM_001407602.1:c.98A>C
  • NM_001407603.1:c.98A>C
  • NM_001407605.1:c.98A>C
  • NM_001407610.1:c.98A>C
  • NM_001407611.1:c.98A>C
  • NM_001407612.1:c.98A>C
  • NM_001407613.1:c.98A>C
  • NM_001407614.1:c.98A>C
  • NM_001407615.1:c.98A>C
  • NM_001407616.1:c.98A>C
  • NM_001407617.1:c.98A>C
  • NM_001407618.1:c.98A>C
  • NM_001407619.1:c.98A>C
  • NM_001407620.1:c.98A>C
  • NM_001407621.1:c.98A>C
  • NM_001407622.1:c.98A>C
  • NM_001407623.1:c.98A>C
  • NM_001407624.1:c.98A>C
  • NM_001407625.1:c.98A>C
  • NM_001407626.1:c.98A>C
  • NM_001407627.1:c.98A>C
  • NM_001407628.1:c.98A>C
  • NM_001407629.1:c.98A>C
  • NM_001407630.1:c.98A>C
  • NM_001407631.1:c.98A>C
  • NM_001407632.1:c.98A>C
  • NM_001407633.1:c.98A>C
  • NM_001407634.1:c.98A>C
  • NM_001407635.1:c.98A>C
  • NM_001407636.1:c.98A>C
  • NM_001407637.1:c.98A>C
  • NM_001407638.1:c.98A>C
  • NM_001407639.1:c.98A>C
  • NM_001407640.1:c.98A>C
  • NM_001407641.1:c.98A>C
  • NM_001407642.1:c.98A>C
  • NM_001407644.1:c.98A>C
  • NM_001407645.1:c.98A>C
  • NM_001407646.1:c.98A>C
  • NM_001407647.1:c.98A>C
  • NM_001407648.1:c.98A>C
  • NM_001407649.1:c.98A>C
  • NM_001407652.1:c.98A>C
  • NM_001407653.1:c.98A>C
  • NM_001407654.1:c.98A>C
  • NM_001407655.1:c.98A>C
  • NM_001407656.1:c.98A>C
  • NM_001407657.1:c.98A>C
  • NM_001407658.1:c.98A>C
  • NM_001407659.1:c.98A>C
  • NM_001407660.1:c.98A>C
  • NM_001407661.1:c.98A>C
  • NM_001407662.1:c.98A>C
  • NM_001407663.1:c.98A>C
  • NM_001407664.1:c.98A>C
  • NM_001407665.1:c.98A>C
  • NM_001407666.1:c.98A>C
  • NM_001407667.1:c.98A>C
  • NM_001407668.1:c.98A>C
  • NM_001407669.1:c.98A>C
  • NM_001407670.1:c.98A>C
  • NM_001407671.1:c.98A>C
  • NM_001407672.1:c.98A>C
  • NM_001407673.1:c.98A>C
  • NM_001407674.1:c.98A>C
  • NM_001407675.1:c.98A>C
  • NM_001407676.1:c.98A>C
  • NM_001407677.1:c.98A>C
  • NM_001407678.1:c.98A>C
  • NM_001407679.1:c.98A>C
  • NM_001407680.1:c.98A>C
  • NM_001407681.1:c.98A>C
  • NM_001407682.1:c.98A>C
  • NM_001407683.1:c.98A>C
  • NM_001407684.1:c.98A>C
  • NM_001407685.1:c.98A>C
  • NM_001407686.1:c.98A>C
  • NM_001407687.1:c.98A>C
  • NM_001407688.1:c.98A>C
  • NM_001407689.1:c.98A>C
  • NM_001407690.1:c.98A>C
  • NM_001407691.1:c.98A>C
  • NM_001407694.1:c.-160A>C
  • NM_001407695.1:c.-164A>C
  • NM_001407696.1:c.-160A>C
  • NM_001407697.1:c.-44A>C
  • NM_001407724.1:c.-160A>C
  • NM_001407725.1:c.-44A>C
  • NM_001407727.1:c.-160A>C
  • NM_001407728.1:c.-44A>C
  • NM_001407729.1:c.-44A>C
  • NM_001407730.1:c.-44A>C
  • NM_001407731.1:c.-160A>C
  • NM_001407733.1:c.-160A>C
  • NM_001407734.1:c.-44A>C
  • NM_001407735.1:c.-44A>C
  • NM_001407737.1:c.-44A>C
  • NM_001407739.1:c.-44A>C
  • NM_001407740.1:c.-44A>C
  • NM_001407741.1:c.-44A>C
  • NM_001407743.1:c.-44A>C
  • NM_001407745.1:c.-44A>C
  • NM_001407746.1:c.-160A>C
  • NM_001407748.1:c.-44A>C
  • NM_001407749.1:c.-160A>C
  • NM_001407752.1:c.-44A>C
  • NM_001407838.1:c.-44A>C
  • NM_001407839.1:c.-44A>C
  • NM_001407841.1:c.-40A>C
  • NM_001407842.1:c.-160A>C
  • NM_001407843.1:c.-160A>C
  • NM_001407844.1:c.-44A>C
  • NM_001407846.1:c.-44A>C
  • NM_001407847.1:c.-44A>C
  • NM_001407848.1:c.-44A>C
  • NM_001407850.1:c.-44A>C
  • NM_001407851.1:c.-44A>C
  • NM_001407853.1:c.-91A>C
  • NM_001407854.1:c.98A>C
  • NM_001407858.1:c.98A>C
  • NM_001407859.1:c.98A>C
  • NM_001407860.1:c.98A>C
  • NM_001407861.1:c.98A>C
  • NM_001407862.1:c.98A>C
  • NM_001407863.1:c.98A>C
  • NM_001407874.1:c.98A>C
  • NM_001407875.1:c.98A>C
  • NM_001407879.1:c.-91A>C
  • NM_001407882.1:c.-91A>C
  • NM_001407884.1:c.-91A>C
  • NM_001407885.1:c.-91A>C
  • NM_001407886.1:c.-91A>C
  • NM_001407887.1:c.-91A>C
  • NM_001407889.1:c.-207A>C
  • NM_001407894.1:c.-91A>C
  • NM_001407895.1:c.-91A>C
  • NM_001407896.1:c.-91A>C
  • NM_001407897.1:c.-91A>C
  • NM_001407899.1:c.-91A>C
  • NM_001407900.1:c.-207A>C
  • NM_001407904.1:c.-91A>C
  • NM_001407906.1:c.-91A>C
  • NM_001407907.1:c.-91A>C
  • NM_001407908.1:c.-91A>C
  • NM_001407909.1:c.-91A>C
  • NM_001407910.1:c.-91A>C
  • NM_001407915.1:c.-91A>C
  • NM_001407916.1:c.-91A>C
  • NM_001407917.1:c.-91A>C
  • NM_001407918.1:c.-91A>C
  • NM_001407919.1:c.98A>C
  • NM_001407920.1:c.-44A>C
  • NM_001407921.1:c.-44A>C
  • NM_001407922.1:c.-44A>C
  • NM_001407923.1:c.-44A>C
  • NM_001407926.1:c.-44A>C
  • NM_001407927.1:c.-44A>C
  • NM_001407930.1:c.-160A>C
  • NM_001407933.1:c.-44A>C
  • NM_001407934.1:c.-44A>C
  • NM_001407935.1:c.-44A>C
  • NM_001407937.1:c.98A>C
  • NM_001407938.1:c.98A>C
  • NM_001407939.1:c.98A>C
  • NM_001407940.1:c.98A>C
  • NM_001407941.1:c.98A>C
  • NM_001407942.1:c.-160A>C
  • NM_001407943.1:c.-44A>C
  • NM_001407944.1:c.-44A>C
  • NM_001407946.1:c.-91A>C
  • NM_001407947.1:c.-91A>C
  • NM_001407948.1:c.-91A>C
  • NM_001407949.1:c.-91A>C
  • NM_001407950.1:c.-91A>C
  • NM_001407951.1:c.-91A>C
  • NM_001407952.1:c.-91A>C
  • NM_001407953.1:c.-91A>C
  • NM_001407954.1:c.-91A>C
  • NM_001407955.1:c.-91A>C
  • NM_001407956.1:c.-91A>C
  • NM_001407957.1:c.-91A>C
  • NM_001407958.1:c.-91A>C
  • NM_001407960.1:c.-206A>C
  • NM_001407962.1:c.-206A>C
  • NM_001407964.1:c.-44A>C
  • NM_001407965.1:c.-322A>C
  • NM_001407968.1:c.98A>C
  • NM_001407969.1:c.98A>C
  • NM_001407970.1:c.98A>C
  • NM_001407971.1:c.98A>C
  • NM_001407972.1:c.98A>C
  • NM_001407973.1:c.98A>C
  • NM_001407974.1:c.98A>C
  • NM_001407975.1:c.98A>C
  • NM_001407976.1:c.98A>C
  • NM_001407977.1:c.98A>C
  • NM_001407978.1:c.98A>C
  • NM_001407979.1:c.98A>C
  • NM_001407980.1:c.98A>C
  • NM_001407981.1:c.98A>C
  • NM_001407982.1:c.98A>C
  • NM_001407983.1:c.98A>C
  • NM_001407984.1:c.98A>C
  • NM_001407985.1:c.98A>C
  • NM_001407986.1:c.98A>C
  • NM_001407990.1:c.98A>C
  • NM_001407991.1:c.98A>C
  • NM_001407992.1:c.98A>C
  • NM_001407993.1:c.98A>C
  • NM_001408392.1:c.98A>C
  • NM_001408396.1:c.98A>C
  • NM_001408397.1:c.98A>C
  • NM_001408398.1:c.98A>C
  • NM_001408399.1:c.98A>C
  • NM_001408400.1:c.98A>C
  • NM_001408401.1:c.98A>C
  • NM_001408402.1:c.98A>C
  • NM_001408403.1:c.98A>C
  • NM_001408404.1:c.98A>C
  • NM_001408406.1:c.98A>C
  • NM_001408407.1:c.98A>C
  • NM_001408408.1:c.98A>C
  • NM_001408409.1:c.98A>C
  • NM_001408410.1:c.-44A>C
  • NM_001408411.1:c.98A>C
  • NM_001408412.1:c.98A>C
  • NM_001408413.1:c.98A>C
  • NM_001408414.1:c.98A>C
  • NM_001408415.1:c.98A>C
  • NM_001408416.1:c.98A>C
  • NM_001408418.1:c.98A>C
  • NM_001408419.1:c.98A>C
  • NM_001408420.1:c.98A>C
  • NM_001408421.1:c.98A>C
  • NM_001408422.1:c.98A>C
  • NM_001408423.1:c.98A>C
  • NM_001408424.1:c.98A>C
  • NM_001408425.1:c.98A>C
  • NM_001408426.1:c.98A>C
  • NM_001408427.1:c.98A>C
  • NM_001408428.1:c.98A>C
  • NM_001408429.1:c.98A>C
  • NM_001408430.1:c.98A>C
  • NM_001408431.1:c.98A>C
  • NM_001408432.1:c.98A>C
  • NM_001408433.1:c.98A>C
  • NM_001408434.1:c.98A>C
  • NM_001408435.1:c.98A>C
  • NM_001408436.1:c.98A>C
  • NM_001408437.1:c.98A>C
  • NM_001408438.1:c.98A>C
  • NM_001408439.1:c.98A>C
  • NM_001408440.1:c.98A>C
  • NM_001408441.1:c.98A>C
  • NM_001408442.1:c.98A>C
  • NM_001408443.1:c.98A>C
  • NM_001408444.1:c.98A>C
  • NM_001408445.1:c.98A>C
  • NM_001408446.1:c.98A>C
  • NM_001408447.1:c.98A>C
  • NM_001408448.1:c.98A>C
  • NM_001408450.1:c.98A>C
  • NM_001408452.1:c.-44A>C
  • NM_001408453.1:c.-44A>C
  • NM_001408455.1:c.-160A>C
  • NM_001408456.1:c.-160A>C
  • NM_001408458.1:c.-44A>C
  • NM_001408462.1:c.-44A>C
  • NM_001408463.1:c.-44A>C
  • NM_001408465.1:c.-164A>C
  • NM_001408466.1:c.-44A>C
  • NM_001408468.1:c.-160A>C
  • NM_001408469.1:c.-44A>C
  • NM_001408470.1:c.-44A>C
  • NM_001408472.1:c.98A>C
  • NM_001408473.1:c.98A>C
  • NM_001408474.1:c.98A>C
  • NM_001408475.1:c.98A>C
  • NM_001408476.1:c.98A>C
  • NM_001408478.1:c.-91A>C
  • NM_001408479.1:c.-91A>C
  • NM_001408480.1:c.-91A>C
  • NM_001408481.1:c.-91A>C
  • NM_001408482.1:c.-91A>C
  • NM_001408483.1:c.-91A>C
  • NM_001408484.1:c.-91A>C
  • NM_001408485.1:c.-91A>C
  • NM_001408489.1:c.-91A>C
  • NM_001408490.1:c.-91A>C
  • NM_001408491.1:c.-91A>C
  • NM_001408492.1:c.-207A>C
  • NM_001408493.1:c.-91A>C
  • NM_001408494.1:c.98A>C
  • NM_001408495.1:c.98A>C
  • NM_001408497.1:c.-44A>C
  • NM_001408499.1:c.-44A>C
  • NM_001408500.1:c.-44A>C
  • NM_001408501.1:c.-160A>C
  • NM_001408502.1:c.-91A>C
  • NM_001408503.1:c.-44A>C
  • NM_001408504.1:c.-44A>C
  • NM_001408505.1:c.-44A>C
  • NM_001408506.1:c.-91A>C
  • NM_001408507.1:c.-91A>C
  • NM_001408508.1:c.-91A>C
  • NM_001408509.1:c.-91A>C
  • NM_001408510.1:c.-206A>C
  • NM_001408512.1:c.-206A>C
  • NM_001408513.1:c.-91A>C
  • NM_001408514.1:c.-91A>C
  • NM_007294.4:c.98A>CMANE SELECT
  • NM_007297.4:c.-8+8255A>C
  • NM_007298.4:c.98A>C
  • NM_007299.4:c.98A>C
  • NM_007300.4:c.98A>C
  • NM_007304.2:c.98A>C
  • NP_001394510.1:p.Glu33Ala
  • NP_001394511.1:p.Glu33Ala
  • NP_001394512.1:p.Glu33Ala
  • NP_001394514.1:p.Glu33Ala
  • NP_001394516.1:p.Glu33Ala
  • NP_001394519.1:p.Glu33Ala
  • NP_001394520.1:p.Glu33Ala
  • NP_001394522.1:p.Glu33Ala
  • NP_001394523.1:p.Glu33Ala
  • NP_001394525.1:p.Glu33Ala
  • NP_001394526.1:p.Glu33Ala
  • NP_001394527.1:p.Glu33Ala
  • NP_001394531.1:p.Glu33Ala
  • NP_001394532.1:p.Glu33Ala
  • NP_001394534.1:p.Glu33Ala
  • NP_001394539.1:p.Glu33Ala
  • NP_001394540.1:p.Glu33Ala
  • NP_001394541.1:p.Glu33Ala
  • NP_001394542.1:p.Glu33Ala
  • NP_001394543.1:p.Glu33Ala
  • NP_001394544.1:p.Glu33Ala
  • NP_001394545.1:p.Glu33Ala
  • NP_001394546.1:p.Glu33Ala
  • NP_001394547.1:p.Glu33Ala
  • NP_001394548.1:p.Glu33Ala
  • NP_001394549.1:p.Glu33Ala
  • NP_001394550.1:p.Glu33Ala
  • NP_001394551.1:p.Glu33Ala
  • NP_001394552.1:p.Glu33Ala
  • NP_001394553.1:p.Glu33Ala
  • NP_001394554.1:p.Glu33Ala
  • NP_001394555.1:p.Glu33Ala
  • NP_001394556.1:p.Glu33Ala
  • NP_001394557.1:p.Glu33Ala
  • NP_001394558.1:p.Glu33Ala
  • NP_001394559.1:p.Glu33Ala
  • NP_001394560.1:p.Glu33Ala
  • NP_001394561.1:p.Glu33Ala
  • NP_001394562.1:p.Glu33Ala
  • NP_001394563.1:p.Glu33Ala
  • NP_001394564.1:p.Glu33Ala
  • NP_001394565.1:p.Glu33Ala
  • NP_001394566.1:p.Glu33Ala
  • NP_001394567.1:p.Glu33Ala
  • NP_001394568.1:p.Glu33Ala
  • NP_001394569.1:p.Glu33Ala
  • NP_001394570.1:p.Glu33Ala
  • NP_001394571.1:p.Glu33Ala
  • NP_001394573.1:p.Glu33Ala
  • NP_001394574.1:p.Glu33Ala
  • NP_001394575.1:p.Glu33Ala
  • NP_001394576.1:p.Glu33Ala
  • NP_001394577.1:p.Glu33Ala
  • NP_001394578.1:p.Glu33Ala
  • NP_001394581.1:p.Glu33Ala
  • NP_001394582.1:p.Glu33Ala
  • NP_001394583.1:p.Glu33Ala
  • NP_001394584.1:p.Glu33Ala
  • NP_001394585.1:p.Glu33Ala
  • NP_001394586.1:p.Glu33Ala
  • NP_001394587.1:p.Glu33Ala
  • NP_001394588.1:p.Glu33Ala
  • NP_001394589.1:p.Glu33Ala
  • NP_001394590.1:p.Glu33Ala
  • NP_001394591.1:p.Glu33Ala
  • NP_001394592.1:p.Glu33Ala
  • NP_001394593.1:p.Glu33Ala
  • NP_001394594.1:p.Glu33Ala
  • NP_001394595.1:p.Glu33Ala
  • NP_001394596.1:p.Glu33Ala
  • NP_001394597.1:p.Glu33Ala
  • NP_001394598.1:p.Glu33Ala
  • NP_001394599.1:p.Glu33Ala
  • NP_001394600.1:p.Glu33Ala
  • NP_001394601.1:p.Glu33Ala
  • NP_001394602.1:p.Glu33Ala
  • NP_001394603.1:p.Glu33Ala
  • NP_001394604.1:p.Glu33Ala
  • NP_001394605.1:p.Glu33Ala
  • NP_001394606.1:p.Glu33Ala
  • NP_001394607.1:p.Glu33Ala
  • NP_001394608.1:p.Glu33Ala
  • NP_001394609.1:p.Glu33Ala
  • NP_001394610.1:p.Glu33Ala
  • NP_001394611.1:p.Glu33Ala
  • NP_001394612.1:p.Glu33Ala
  • NP_001394613.1:p.Glu33Ala
  • NP_001394614.1:p.Glu33Ala
  • NP_001394615.1:p.Glu33Ala
  • NP_001394616.1:p.Glu33Ala
  • NP_001394617.1:p.Glu33Ala
  • NP_001394618.1:p.Glu33Ala
  • NP_001394619.1:p.Glu33Ala
  • NP_001394620.1:p.Glu33Ala
  • NP_001394783.1:p.Glu33Ala
  • NP_001394787.1:p.Glu33Ala
  • NP_001394788.1:p.Glu33Ala
  • NP_001394789.1:p.Glu33Ala
  • NP_001394790.1:p.Glu33Ala
  • NP_001394791.1:p.Glu33Ala
  • NP_001394792.1:p.Glu33Ala
  • NP_001394803.1:p.Glu33Ala
  • NP_001394804.1:p.Glu33Ala
  • NP_001394848.1:p.Glu33Ala
  • NP_001394866.1:p.Glu33Ala
  • NP_001394867.1:p.Glu33Ala
  • NP_001394868.1:p.Glu33Ala
  • NP_001394869.1:p.Glu33Ala
  • NP_001394870.1:p.Glu33Ala
  • NP_001394897.1:p.Glu33Ala
  • NP_001394898.1:p.Glu33Ala
  • NP_001394899.1:p.Glu33Ala
  • NP_001394900.1:p.Glu33Ala
  • NP_001394901.1:p.Glu33Ala
  • NP_001394902.1:p.Glu33Ala
  • NP_001394903.1:p.Glu33Ala
  • NP_001394904.1:p.Glu33Ala
  • NP_001394905.1:p.Glu33Ala
  • NP_001394906.1:p.Glu33Ala
  • NP_001394907.1:p.Glu33Ala
  • NP_001394908.1:p.Glu33Ala
  • NP_001394909.1:p.Glu33Ala
  • NP_001394910.1:p.Glu33Ala
  • NP_001394911.1:p.Glu33Ala
  • NP_001394912.1:p.Glu33Ala
  • NP_001394913.1:p.Glu33Ala
  • NP_001394914.1:p.Glu33Ala
  • NP_001394915.1:p.Glu33Ala
  • NP_001394919.1:p.Glu33Ala
  • NP_001394920.1:p.Glu33Ala
  • NP_001394921.1:p.Glu33Ala
  • NP_001394922.1:p.Glu33Ala
  • NP_001395321.1:p.Glu33Ala
  • NP_001395325.1:p.Glu33Ala
  • NP_001395326.1:p.Glu33Ala
  • NP_001395327.1:p.Glu33Ala
  • NP_001395328.1:p.Glu33Ala
  • NP_001395329.1:p.Glu33Ala
  • NP_001395330.1:p.Glu33Ala
  • NP_001395331.1:p.Glu33Ala
  • NP_001395332.1:p.Glu33Ala
  • NP_001395333.1:p.Glu33Ala
  • NP_001395335.1:p.Glu33Ala
  • NP_001395336.1:p.Glu33Ala
  • NP_001395337.1:p.Glu33Ala
  • NP_001395338.1:p.Glu33Ala
  • NP_001395340.1:p.Glu33Ala
  • NP_001395341.1:p.Glu33Ala
  • NP_001395342.1:p.Glu33Ala
  • NP_001395343.1:p.Glu33Ala
  • NP_001395344.1:p.Glu33Ala
  • NP_001395345.1:p.Glu33Ala
  • NP_001395347.1:p.Glu33Ala
  • NP_001395348.1:p.Glu33Ala
  • NP_001395349.1:p.Glu33Ala
  • NP_001395350.1:p.Glu33Ala
  • NP_001395351.1:p.Glu33Ala
  • NP_001395352.1:p.Glu33Ala
  • NP_001395353.1:p.Glu33Ala
  • NP_001395354.1:p.Glu33Ala
  • NP_001395355.1:p.Glu33Ala
  • NP_001395356.1:p.Glu33Ala
  • NP_001395357.1:p.Glu33Ala
  • NP_001395358.1:p.Glu33Ala
  • NP_001395359.1:p.Glu33Ala
  • NP_001395360.1:p.Glu33Ala
  • NP_001395361.1:p.Glu33Ala
  • NP_001395362.1:p.Glu33Ala
  • NP_001395363.1:p.Glu33Ala
  • NP_001395364.1:p.Glu33Ala
  • NP_001395365.1:p.Glu33Ala
  • NP_001395366.1:p.Glu33Ala
  • NP_001395367.1:p.Glu33Ala
  • NP_001395368.1:p.Glu33Ala
  • NP_001395369.1:p.Glu33Ala
  • NP_001395370.1:p.Glu33Ala
  • NP_001395371.1:p.Glu33Ala
  • NP_001395372.1:p.Glu33Ala
  • NP_001395373.1:p.Glu33Ala
  • NP_001395374.1:p.Glu33Ala
  • NP_001395375.1:p.Glu33Ala
  • NP_001395376.1:p.Glu33Ala
  • NP_001395377.1:p.Glu33Ala
  • NP_001395379.1:p.Glu33Ala
  • NP_001395401.1:p.Glu33Ala
  • NP_001395402.1:p.Glu33Ala
  • NP_001395403.1:p.Glu33Ala
  • NP_001395404.1:p.Glu33Ala
  • NP_001395405.1:p.Glu33Ala
  • NP_001395423.1:p.Glu33Ala
  • NP_001395424.1:p.Glu33Ala
  • NP_009225.1:p.Glu33Ala
  • NP_009225.1:p.Glu33Ala
  • NP_009229.2:p.Glu33Ala
  • NP_009229.2:p.Glu33Ala
  • NP_009230.2:p.Glu33Ala
  • NP_009231.2:p.Glu33Ala
  • NP_009235.2:p.Glu33Ala
  • LRG_292t1:c.98A>C
  • LRG_292:g.102222A>C
  • LRG_292p1:p.Glu33Ala
  • NC_000017.10:g.41267779T>G
  • NM_007294.3:c.98A>C
  • NM_007298.3:c.98A>C
  • NR_027676.2:n.300A>C
Protein change:
E33A
Links:
dbSNP: rs876660844
NCBI 1000 Genomes Browser:
rs876660844
Molecular consequence:
  • NM_007297.4:c.-8+8255A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.98A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.300A>C - 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
SCV000278593Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 26, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.

Muller D, Bonaiti-Pellié C, Abecassis J, Stoppa-Lyonnet D, Fricker JP.

Fam Cancer. 2004;3(1):15-20.

PubMed [citation]
PMID:
15131401

Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

Millot GA, Berger A, Lejour V, Boulé JB, Bobo C, Cullin C, Lopes J, Stoppa-Lyonnet D, Nicolas A.

Hum Mutat. 2011 Dec;32(12):1470-80. doi: 10.1002/humu.21608. Epub 2011 Oct 20.

PubMed [citation]
PMID:
21922593
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000278593.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

The p.E33A variant (also known as c.98A>C), located in coding exon 2 of the BRCA1 gene, results from an A to C substitution at nucleotide position 98. The glutamic acid at codon 33 is replaced by alanine, an amino acid with dissimilar properties. This alteration has been identified in several breast cancer families (Muller D et al. Fam. Cancer, 2004;3:15-20; Martelotto LG et al. Genome Biol., 2014 Oct;15:484). This alteration was partially functional in a yeast-based assay but showed wild-type like function in multiple other assays (Millot GA et al. Hum. Mutat., 2011 Dec;32:1470-80; Starita LM et al. Am. J. Hum. Genet., 2018 10;103:498-508; Findlay GM et al. Nature, 2018 10;562:217-222; Starita LM et al. Genetics, 2015 Jun;200:413-22). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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