NM_007294.4(BRCA1):c.112A>G (p.Lys38Glu) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 25, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV002554645.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.112A>G (p.Lys38Glu)]
NM_007294.4(BRCA1):c.112A>G (p.Lys38Glu)
- 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.112A>G (p.Lys38Glu)
- HGVS:
- NC_000017.11:g.43115748T>C
- NG_005905.2:g.102236A>G
- NM_001407571.1:c.-77A>G
- NM_001407581.1:c.112A>G
- NM_001407582.1:c.112A>G
- NM_001407583.1:c.112A>G
- NM_001407585.1:c.112A>G
- NM_001407587.1:c.112A>G
- NM_001407590.1:c.112A>G
- NM_001407591.1:c.112A>G
- NM_001407593.1:c.112A>G
- NM_001407594.1:c.112A>G
- NM_001407596.1:c.112A>G
- NM_001407597.1:c.112A>G
- NM_001407598.1:c.112A>G
- NM_001407602.1:c.112A>G
- NM_001407603.1:c.112A>G
- NM_001407605.1:c.112A>G
- NM_001407610.1:c.112A>G
- NM_001407611.1:c.112A>G
- NM_001407612.1:c.112A>G
- NM_001407613.1:c.112A>G
- NM_001407614.1:c.112A>G
- NM_001407615.1:c.112A>G
- NM_001407616.1:c.112A>G
- NM_001407617.1:c.112A>G
- NM_001407618.1:c.112A>G
- NM_001407619.1:c.112A>G
- NM_001407620.1:c.112A>G
- NM_001407621.1:c.112A>G
- NM_001407622.1:c.112A>G
- NM_001407623.1:c.112A>G
- NM_001407624.1:c.112A>G
- NM_001407625.1:c.112A>G
- NM_001407626.1:c.112A>G
- NM_001407627.1:c.112A>G
- NM_001407628.1:c.112A>G
- NM_001407629.1:c.112A>G
- NM_001407630.1:c.112A>G
- NM_001407631.1:c.112A>G
- NM_001407632.1:c.112A>G
- NM_001407633.1:c.112A>G
- NM_001407634.1:c.112A>G
- NM_001407635.1:c.112A>G
- NM_001407636.1:c.112A>G
- NM_001407637.1:c.112A>G
- NM_001407638.1:c.112A>G
- NM_001407639.1:c.112A>G
- NM_001407640.1:c.112A>G
- NM_001407641.1:c.112A>G
- NM_001407642.1:c.112A>G
- NM_001407644.1:c.112A>G
- NM_001407645.1:c.112A>G
- NM_001407646.1:c.112A>G
- NM_001407647.1:c.112A>G
- NM_001407648.1:c.112A>G
- NM_001407649.1:c.112A>G
- NM_001407652.1:c.112A>G
- NM_001407653.1:c.112A>G
- NM_001407654.1:c.112A>G
- NM_001407655.1:c.112A>G
- NM_001407656.1:c.112A>G
- NM_001407657.1:c.112A>G
- NM_001407658.1:c.112A>G
- NM_001407659.1:c.112A>G
- NM_001407660.1:c.112A>G
- NM_001407661.1:c.112A>G
- NM_001407662.1:c.112A>G
- NM_001407663.1:c.112A>G
- NM_001407664.1:c.112A>G
- NM_001407665.1:c.112A>G
- NM_001407666.1:c.112A>G
- NM_001407667.1:c.112A>G
- NM_001407668.1:c.112A>G
- NM_001407669.1:c.112A>G
- NM_001407670.1:c.112A>G
- NM_001407671.1:c.112A>G
- NM_001407672.1:c.112A>G
- NM_001407673.1:c.112A>G
- NM_001407674.1:c.112A>G
- NM_001407675.1:c.112A>G
- NM_001407676.1:c.112A>G
- NM_001407677.1:c.112A>G
- NM_001407678.1:c.112A>G
- NM_001407679.1:c.112A>G
- NM_001407680.1:c.112A>G
- NM_001407681.1:c.112A>G
- NM_001407682.1:c.112A>G
- NM_001407683.1:c.112A>G
- NM_001407684.1:c.112A>G
- NM_001407685.1:c.112A>G
- NM_001407686.1:c.112A>G
- NM_001407687.1:c.112A>G
- NM_001407688.1:c.112A>G
- NM_001407689.1:c.112A>G
- NM_001407690.1:c.112A>G
- NM_001407691.1:c.112A>G
- NM_001407694.1:c.-146A>G
- NM_001407695.1:c.-150A>G
- NM_001407696.1:c.-146A>G
- NM_001407697.1:c.-30A>G
- NM_001407724.1:c.-146A>G
- NM_001407725.1:c.-30A>G
- NM_001407727.1:c.-146A>G
- NM_001407728.1:c.-30A>G
- NM_001407729.1:c.-30A>G
- NM_001407730.1:c.-30A>G
- NM_001407731.1:c.-146A>G
- NM_001407733.1:c.-146A>G
- NM_001407734.1:c.-30A>G
- NM_001407735.1:c.-30A>G
- NM_001407737.1:c.-30A>G
- NM_001407739.1:c.-30A>G
- NM_001407740.1:c.-30A>G
- NM_001407741.1:c.-30A>G
- NM_001407743.1:c.-30A>G
- NM_001407745.1:c.-30A>G
- NM_001407746.1:c.-146A>G
- NM_001407748.1:c.-30A>G
- NM_001407749.1:c.-146A>G
- NM_001407752.1:c.-30A>G
- NM_001407838.1:c.-30A>G
- NM_001407839.1:c.-30A>G
- NM_001407841.1:c.-26A>G
- NM_001407842.1:c.-146A>G
- NM_001407843.1:c.-146A>G
- NM_001407844.1:c.-30A>G
- NM_001407846.1:c.-30A>G
- NM_001407847.1:c.-30A>G
- NM_001407848.1:c.-30A>G
- NM_001407850.1:c.-30A>G
- NM_001407851.1:c.-30A>G
- NM_001407853.1:c.-77A>G
- NM_001407854.1:c.112A>G
- NM_001407858.1:c.112A>G
- NM_001407859.1:c.112A>G
- NM_001407860.1:c.112A>G
- NM_001407861.1:c.112A>G
- NM_001407862.1:c.112A>G
- NM_001407863.1:c.112A>G
- NM_001407874.1:c.112A>G
- NM_001407875.1:c.112A>G
- NM_001407879.1:c.-77A>G
- NM_001407882.1:c.-77A>G
- NM_001407884.1:c.-77A>G
- NM_001407885.1:c.-77A>G
- NM_001407886.1:c.-77A>G
- NM_001407887.1:c.-77A>G
- NM_001407889.1:c.-193A>G
- NM_001407894.1:c.-77A>G
- NM_001407895.1:c.-77A>G
- NM_001407896.1:c.-77A>G
- NM_001407897.1:c.-77A>G
- NM_001407899.1:c.-77A>G
- NM_001407900.1:c.-193A>G
- NM_001407904.1:c.-77A>G
- NM_001407906.1:c.-77A>G
- NM_001407907.1:c.-77A>G
- NM_001407908.1:c.-77A>G
- NM_001407909.1:c.-77A>G
- NM_001407910.1:c.-77A>G
- NM_001407915.1:c.-77A>G
- NM_001407916.1:c.-77A>G
- NM_001407917.1:c.-77A>G
- NM_001407918.1:c.-77A>G
- NM_001407919.1:c.112A>G
- NM_001407920.1:c.-30A>G
- NM_001407921.1:c.-30A>G
- NM_001407922.1:c.-30A>G
- NM_001407923.1:c.-30A>G
- NM_001407926.1:c.-30A>G
- NM_001407927.1:c.-30A>G
- NM_001407930.1:c.-146A>G
- NM_001407933.1:c.-30A>G
- NM_001407934.1:c.-30A>G
- NM_001407935.1:c.-30A>G
- NM_001407937.1:c.112A>G
- NM_001407938.1:c.112A>G
- NM_001407939.1:c.112A>G
- NM_001407940.1:c.112A>G
- NM_001407941.1:c.112A>G
- NM_001407942.1:c.-146A>G
- NM_001407943.1:c.-30A>G
- NM_001407944.1:c.-30A>G
- NM_001407946.1:c.-77A>G
- NM_001407947.1:c.-77A>G
- NM_001407948.1:c.-77A>G
- NM_001407949.1:c.-77A>G
- NM_001407950.1:c.-77A>G
- NM_001407951.1:c.-77A>G
- NM_001407952.1:c.-77A>G
- NM_001407953.1:c.-77A>G
- NM_001407954.1:c.-77A>G
- NM_001407955.1:c.-77A>G
- NM_001407956.1:c.-77A>G
- NM_001407957.1:c.-77A>G
- NM_001407958.1:c.-77A>G
- NM_001407960.1:c.-192A>G
- NM_001407962.1:c.-192A>G
- NM_001407964.1:c.-30A>G
- NM_001407965.1:c.-308A>G
- NM_001407968.1:c.112A>G
- NM_001407969.1:c.112A>G
- NM_001407970.1:c.112A>G
- NM_001407971.1:c.112A>G
- NM_001407972.1:c.112A>G
- NM_001407973.1:c.112A>G
- NM_001407974.1:c.112A>G
- NM_001407975.1:c.112A>G
- NM_001407976.1:c.112A>G
- NM_001407977.1:c.112A>G
- NM_001407978.1:c.112A>G
- NM_001407979.1:c.112A>G
- NM_001407980.1:c.112A>G
- NM_001407981.1:c.112A>G
- NM_001407982.1:c.112A>G
- NM_001407983.1:c.112A>G
- NM_001407984.1:c.112A>G
- NM_001407985.1:c.112A>G
- NM_001407986.1:c.112A>G
- NM_001407990.1:c.112A>G
- NM_001407991.1:c.112A>G
- NM_001407992.1:c.112A>G
- NM_001407993.1:c.112A>G
- NM_001408392.1:c.112A>G
- NM_001408396.1:c.112A>G
- NM_001408397.1:c.112A>G
- NM_001408398.1:c.112A>G
- NM_001408399.1:c.112A>G
- NM_001408400.1:c.112A>G
- NM_001408401.1:c.112A>G
- NM_001408402.1:c.112A>G
- NM_001408403.1:c.112A>G
- NM_001408404.1:c.112A>G
- NM_001408406.1:c.112A>G
- NM_001408407.1:c.112A>G
- NM_001408408.1:c.112A>G
- NM_001408409.1:c.112A>G
- NM_001408410.1:c.-30A>G
- NM_001408411.1:c.112A>G
- NM_001408412.1:c.112A>G
- NM_001408413.1:c.112A>G
- NM_001408414.1:c.112A>G
- NM_001408415.1:c.112A>G
- NM_001408416.1:c.112A>G
- NM_001408418.1:c.112A>G
- NM_001408419.1:c.112A>G
- NM_001408420.1:c.112A>G
- NM_001408421.1:c.112A>G
- NM_001408422.1:c.112A>G
- NM_001408423.1:c.112A>G
- NM_001408424.1:c.112A>G
- NM_001408425.1:c.112A>G
- NM_001408426.1:c.112A>G
- NM_001408427.1:c.112A>G
- NM_001408428.1:c.112A>G
- NM_001408429.1:c.112A>G
- NM_001408430.1:c.112A>G
- NM_001408431.1:c.112A>G
- NM_001408432.1:c.112A>G
- NM_001408433.1:c.112A>G
- NM_001408434.1:c.112A>G
- NM_001408435.1:c.112A>G
- NM_001408436.1:c.112A>G
- NM_001408437.1:c.112A>G
- NM_001408438.1:c.112A>G
- NM_001408439.1:c.112A>G
- NM_001408440.1:c.112A>G
- NM_001408441.1:c.112A>G
- NM_001408442.1:c.112A>G
- NM_001408443.1:c.112A>G
- NM_001408444.1:c.112A>G
- NM_001408445.1:c.112A>G
- NM_001408446.1:c.112A>G
- NM_001408447.1:c.112A>G
- NM_001408448.1:c.112A>G
- NM_001408450.1:c.112A>G
- NM_001408452.1:c.-30A>G
- NM_001408453.1:c.-30A>G
- NM_001408455.1:c.-146A>G
- NM_001408456.1:c.-146A>G
- NM_001408458.1:c.-30A>G
- NM_001408462.1:c.-30A>G
- NM_001408463.1:c.-30A>G
- NM_001408465.1:c.-150A>G
- NM_001408466.1:c.-30A>G
- NM_001408468.1:c.-146A>G
- NM_001408469.1:c.-30A>G
- NM_001408470.1:c.-30A>G
- NM_001408472.1:c.112A>G
- NM_001408473.1:c.112A>G
- NM_001408474.1:c.112A>G
- NM_001408475.1:c.112A>G
- NM_001408476.1:c.112A>G
- NM_001408478.1:c.-77A>G
- NM_001408479.1:c.-77A>G
- NM_001408480.1:c.-77A>G
- NM_001408481.1:c.-77A>G
- NM_001408482.1:c.-77A>G
- NM_001408483.1:c.-77A>G
- NM_001408484.1:c.-77A>G
- NM_001408485.1:c.-77A>G
- NM_001408489.1:c.-77A>G
- NM_001408490.1:c.-77A>G
- NM_001408491.1:c.-77A>G
- NM_001408492.1:c.-193A>G
- NM_001408493.1:c.-77A>G
- NM_001408494.1:c.112A>G
- NM_001408495.1:c.112A>G
- NM_001408497.1:c.-30A>G
- NM_001408499.1:c.-30A>G
- NM_001408500.1:c.-30A>G
- NM_001408501.1:c.-146A>G
- NM_001408502.1:c.-77A>G
- NM_001408503.1:c.-30A>G
- NM_001408504.1:c.-30A>G
- NM_001408505.1:c.-30A>G
- NM_001408506.1:c.-77A>G
- NM_001408507.1:c.-77A>G
- NM_001408508.1:c.-77A>G
- NM_001408509.1:c.-77A>G
- NM_001408510.1:c.-192A>G
- NM_001408512.1:c.-192A>G
- NM_001408513.1:c.-77A>G
- NM_001408514.1:c.-77A>G
- NM_007294.4:c.112A>GMANE SELECT
- NM_007297.4:c.-8+8269A>G
- NM_007298.4:c.112A>G
- NM_007299.4:c.112A>G
- NM_007300.4:c.112A>G
- NM_007304.2:c.112A>G
- NP_001394510.1:p.Lys38Glu
- NP_001394511.1:p.Lys38Glu
- NP_001394512.1:p.Lys38Glu
- NP_001394514.1:p.Lys38Glu
- NP_001394516.1:p.Lys38Glu
- NP_001394519.1:p.Lys38Glu
- NP_001394520.1:p.Lys38Glu
- NP_001394522.1:p.Lys38Glu
- NP_001394523.1:p.Lys38Glu
- NP_001394525.1:p.Lys38Glu
- NP_001394526.1:p.Lys38Glu
- NP_001394527.1:p.Lys38Glu
- NP_001394531.1:p.Lys38Glu
- NP_001394532.1:p.Lys38Glu
- NP_001394534.1:p.Lys38Glu
- NP_001394539.1:p.Lys38Glu
- NP_001394540.1:p.Lys38Glu
- NP_001394541.1:p.Lys38Glu
- NP_001394542.1:p.Lys38Glu
- NP_001394543.1:p.Lys38Glu
- NP_001394544.1:p.Lys38Glu
- NP_001394545.1:p.Lys38Glu
- NP_001394546.1:p.Lys38Glu
- NP_001394547.1:p.Lys38Glu
- NP_001394548.1:p.Lys38Glu
- NP_001394549.1:p.Lys38Glu
- NP_001394550.1:p.Lys38Glu
- NP_001394551.1:p.Lys38Glu
- NP_001394552.1:p.Lys38Glu
- NP_001394553.1:p.Lys38Glu
- NP_001394554.1:p.Lys38Glu
- NP_001394555.1:p.Lys38Glu
- NP_001394556.1:p.Lys38Glu
- NP_001394557.1:p.Lys38Glu
- NP_001394558.1:p.Lys38Glu
- NP_001394559.1:p.Lys38Glu
- NP_001394560.1:p.Lys38Glu
- NP_001394561.1:p.Lys38Glu
- NP_001394562.1:p.Lys38Glu
- NP_001394563.1:p.Lys38Glu
- NP_001394564.1:p.Lys38Glu
- NP_001394565.1:p.Lys38Glu
- NP_001394566.1:p.Lys38Glu
- NP_001394567.1:p.Lys38Glu
- NP_001394568.1:p.Lys38Glu
- NP_001394569.1:p.Lys38Glu
- NP_001394570.1:p.Lys38Glu
- NP_001394571.1:p.Lys38Glu
- NP_001394573.1:p.Lys38Glu
- NP_001394574.1:p.Lys38Glu
- NP_001394575.1:p.Lys38Glu
- NP_001394576.1:p.Lys38Glu
- NP_001394577.1:p.Lys38Glu
- NP_001394578.1:p.Lys38Glu
- NP_001394581.1:p.Lys38Glu
- NP_001394582.1:p.Lys38Glu
- NP_001394583.1:p.Lys38Glu
- NP_001394584.1:p.Lys38Glu
- NP_001394585.1:p.Lys38Glu
- NP_001394586.1:p.Lys38Glu
- NP_001394587.1:p.Lys38Glu
- NP_001394588.1:p.Lys38Glu
- NP_001394589.1:p.Lys38Glu
- NP_001394590.1:p.Lys38Glu
- NP_001394591.1:p.Lys38Glu
- NP_001394592.1:p.Lys38Glu
- NP_001394593.1:p.Lys38Glu
- NP_001394594.1:p.Lys38Glu
- NP_001394595.1:p.Lys38Glu
- NP_001394596.1:p.Lys38Glu
- NP_001394597.1:p.Lys38Glu
- NP_001394598.1:p.Lys38Glu
- NP_001394599.1:p.Lys38Glu
- NP_001394600.1:p.Lys38Glu
- NP_001394601.1:p.Lys38Glu
- NP_001394602.1:p.Lys38Glu
- NP_001394603.1:p.Lys38Glu
- NP_001394604.1:p.Lys38Glu
- NP_001394605.1:p.Lys38Glu
- NP_001394606.1:p.Lys38Glu
- NP_001394607.1:p.Lys38Glu
- NP_001394608.1:p.Lys38Glu
- NP_001394609.1:p.Lys38Glu
- NP_001394610.1:p.Lys38Glu
- NP_001394611.1:p.Lys38Glu
- NP_001394612.1:p.Lys38Glu
- NP_001394613.1:p.Lys38Glu
- NP_001394614.1:p.Lys38Glu
- NP_001394615.1:p.Lys38Glu
- NP_001394616.1:p.Lys38Glu
- NP_001394617.1:p.Lys38Glu
- NP_001394618.1:p.Lys38Glu
- NP_001394619.1:p.Lys38Glu
- NP_001394620.1:p.Lys38Glu
- NP_001394783.1:p.Lys38Glu
- NP_001394787.1:p.Lys38Glu
- NP_001394788.1:p.Lys38Glu
- NP_001394789.1:p.Lys38Glu
- NP_001394790.1:p.Lys38Glu
- NP_001394791.1:p.Lys38Glu
- NP_001394792.1:p.Lys38Glu
- NP_001394803.1:p.Lys38Glu
- NP_001394804.1:p.Lys38Glu
- NP_001394848.1:p.Lys38Glu
- NP_001394866.1:p.Lys38Glu
- NP_001394867.1:p.Lys38Glu
- NP_001394868.1:p.Lys38Glu
- NP_001394869.1:p.Lys38Glu
- NP_001394870.1:p.Lys38Glu
- NP_001394897.1:p.Lys38Glu
- NP_001394898.1:p.Lys38Glu
- NP_001394899.1:p.Lys38Glu
- NP_001394900.1:p.Lys38Glu
- NP_001394901.1:p.Lys38Glu
- NP_001394902.1:p.Lys38Glu
- NP_001394903.1:p.Lys38Glu
- NP_001394904.1:p.Lys38Glu
- NP_001394905.1:p.Lys38Glu
- NP_001394906.1:p.Lys38Glu
- NP_001394907.1:p.Lys38Glu
- NP_001394908.1:p.Lys38Glu
- NP_001394909.1:p.Lys38Glu
- NP_001394910.1:p.Lys38Glu
- NP_001394911.1:p.Lys38Glu
- NP_001394912.1:p.Lys38Glu
- NP_001394913.1:p.Lys38Glu
- NP_001394914.1:p.Lys38Glu
- NP_001394915.1:p.Lys38Glu
- NP_001394919.1:p.Lys38Glu
- NP_001394920.1:p.Lys38Glu
- NP_001394921.1:p.Lys38Glu
- NP_001394922.1:p.Lys38Glu
- NP_001395321.1:p.Lys38Glu
- NP_001395325.1:p.Lys38Glu
- NP_001395326.1:p.Lys38Glu
- NP_001395327.1:p.Lys38Glu
- NP_001395328.1:p.Lys38Glu
- NP_001395329.1:p.Lys38Glu
- NP_001395330.1:p.Lys38Glu
- NP_001395331.1:p.Lys38Glu
- NP_001395332.1:p.Lys38Glu
- NP_001395333.1:p.Lys38Glu
- NP_001395335.1:p.Lys38Glu
- NP_001395336.1:p.Lys38Glu
- NP_001395337.1:p.Lys38Glu
- NP_001395338.1:p.Lys38Glu
- NP_001395340.1:p.Lys38Glu
- NP_001395341.1:p.Lys38Glu
- NP_001395342.1:p.Lys38Glu
- NP_001395343.1:p.Lys38Glu
- NP_001395344.1:p.Lys38Glu
- NP_001395345.1:p.Lys38Glu
- NP_001395347.1:p.Lys38Glu
- NP_001395348.1:p.Lys38Glu
- NP_001395349.1:p.Lys38Glu
- NP_001395350.1:p.Lys38Glu
- NP_001395351.1:p.Lys38Glu
- NP_001395352.1:p.Lys38Glu
- NP_001395353.1:p.Lys38Glu
- NP_001395354.1:p.Lys38Glu
- NP_001395355.1:p.Lys38Glu
- NP_001395356.1:p.Lys38Glu
- NP_001395357.1:p.Lys38Glu
- NP_001395358.1:p.Lys38Glu
- NP_001395359.1:p.Lys38Glu
- NP_001395360.1:p.Lys38Glu
- NP_001395361.1:p.Lys38Glu
- NP_001395362.1:p.Lys38Glu
- NP_001395363.1:p.Lys38Glu
- NP_001395364.1:p.Lys38Glu
- NP_001395365.1:p.Lys38Glu
- NP_001395366.1:p.Lys38Glu
- NP_001395367.1:p.Lys38Glu
- NP_001395368.1:p.Lys38Glu
- NP_001395369.1:p.Lys38Glu
- NP_001395370.1:p.Lys38Glu
- NP_001395371.1:p.Lys38Glu
- NP_001395372.1:p.Lys38Glu
- NP_001395373.1:p.Lys38Glu
- NP_001395374.1:p.Lys38Glu
- NP_001395375.1:p.Lys38Glu
- NP_001395376.1:p.Lys38Glu
- NP_001395377.1:p.Lys38Glu
- NP_001395379.1:p.Lys38Glu
- NP_001395401.1:p.Lys38Glu
- NP_001395402.1:p.Lys38Glu
- NP_001395403.1:p.Lys38Glu
- NP_001395404.1:p.Lys38Glu
- NP_001395405.1:p.Lys38Glu
- NP_001395423.1:p.Lys38Glu
- NP_001395424.1:p.Lys38Glu
- NP_009225.1:p.Lys38Glu
- NP_009225.1:p.Lys38Glu
- NP_009229.2:p.Lys38Glu
- NP_009229.2:p.Lys38Glu
- NP_009230.2:p.Lys38Glu
- NP_009231.2:p.Lys38Glu
- NP_009235.2:p.Lys38Glu
- LRG_292t1:c.112A>G
- LRG_292:g.102236A>G
- LRG_292p1:p.Lys38Glu
- NC_000017.10:g.41267765T>C
- NC_000017.10:g.41267765T>C
- NM_007294.3:c.112A>G
- NM_007298.3:c.112A>G
- NR_027676.2:n.314A>G
This HGVS expression did not pass validation- Protein change:
- K38E
- Links:
- dbSNP: rs2055252323
- NCBI 1000 Genomes Browser:
- rs2055252323
- Molecular consequence:
- NM_007297.4:c.-8+8269A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.112A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.314A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.112A>G, a MISSENSE variant, produced a function score of -0.06, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003266696 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (Nov 25, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical 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.
- PMID:
- 30209399
- PMCID:
- PMC6181777
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.
- PMID:
- 28492532
- PMCID:
- PMC5632818
Details of each submission
From Invitae, SCV003266696.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 38 of the BRCA1 protein (p.Lys38Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 865129). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jul 15, 2024