NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2024
- 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:
- RCV004019581.1
Allele description [Variation Report for NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys)]
NM_007294.4(BRCA1):c.389A>G (p.Tyr130Cys)
- 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.389A>G (p.Tyr130Cys)
- HGVS:
- NC_000017.11:g.43104174T>C
- NG_005905.2:g.113810A>G
- NM_001407571.1:c.179A>G
- NM_001407581.1:c.389A>G
- NM_001407582.1:c.389A>G
- NM_001407583.1:c.389A>G
- NM_001407585.1:c.389A>G
- NM_001407587.1:c.389A>G
- NM_001407590.1:c.389A>G
- NM_001407591.1:c.389A>G
- NM_001407593.1:c.389A>G
- NM_001407594.1:c.389A>G
- NM_001407596.1:c.389A>G
- NM_001407597.1:c.389A>G
- NM_001407598.1:c.389A>G
- NM_001407602.1:c.389A>G
- NM_001407603.1:c.389A>G
- NM_001407605.1:c.389A>G
- NM_001407610.1:c.389A>G
- NM_001407611.1:c.389A>G
- NM_001407612.1:c.389A>G
- NM_001407613.1:c.389A>G
- NM_001407614.1:c.389A>G
- NM_001407615.1:c.389A>G
- NM_001407616.1:c.389A>G
- NM_001407617.1:c.389A>G
- NM_001407618.1:c.389A>G
- NM_001407619.1:c.389A>G
- NM_001407620.1:c.389A>G
- NM_001407621.1:c.389A>G
- NM_001407622.1:c.389A>G
- NM_001407623.1:c.389A>G
- NM_001407624.1:c.389A>G
- NM_001407625.1:c.389A>G
- NM_001407626.1:c.389A>G
- NM_001407627.1:c.389A>G
- NM_001407628.1:c.389A>G
- NM_001407629.1:c.389A>G
- NM_001407630.1:c.389A>G
- NM_001407631.1:c.389A>G
- NM_001407632.1:c.389A>G
- NM_001407633.1:c.389A>G
- NM_001407634.1:c.389A>G
- NM_001407635.1:c.389A>G
- NM_001407636.1:c.389A>G
- NM_001407637.1:c.389A>G
- NM_001407638.1:c.389A>G
- NM_001407639.1:c.389A>G
- NM_001407640.1:c.389A>G
- NM_001407641.1:c.389A>G
- NM_001407642.1:c.389A>G
- NM_001407644.1:c.389A>G
- NM_001407645.1:c.389A>G
- NM_001407646.1:c.380A>G
- NM_001407647.1:c.380A>G
- NM_001407648.1:c.389A>G
- NM_001407649.1:c.389A>G
- NM_001407652.1:c.389A>G
- NM_001407653.1:c.311A>G
- NM_001407654.1:c.311A>G
- NM_001407655.1:c.311A>G
- NM_001407656.1:c.311A>G
- NM_001407657.1:c.311A>G
- NM_001407658.1:c.311A>G
- NM_001407659.1:c.311A>G
- NM_001407660.1:c.311A>G
- NM_001407661.1:c.311A>G
- NM_001407662.1:c.311A>G
- NM_001407663.1:c.311A>G
- NM_001407664.1:c.389A>G
- NM_001407665.1:c.389A>G
- NM_001407666.1:c.389A>G
- NM_001407667.1:c.389A>G
- NM_001407668.1:c.389A>G
- NM_001407669.1:c.389A>G
- NM_001407670.1:c.389A>G
- NM_001407671.1:c.389A>G
- NM_001407672.1:c.389A>G
- NM_001407673.1:c.389A>G
- NM_001407674.1:c.389A>G
- NM_001407675.1:c.389A>G
- NM_001407676.1:c.389A>G
- NM_001407677.1:c.389A>G
- NM_001407678.1:c.389A>G
- NM_001407679.1:c.389A>G
- NM_001407680.1:c.389A>G
- NM_001407681.1:c.389A>G
- NM_001407682.1:c.389A>G
- NM_001407683.1:c.389A>G
- NM_001407684.1:c.389A>G
- NM_001407685.1:c.389A>G
- NM_001407686.1:c.389A>G
- NM_001407687.1:c.389A>G
- NM_001407688.1:c.389A>G
- NM_001407689.1:c.389A>G
- NM_001407690.1:c.389A>G
- NM_001407691.1:c.389A>G
- NM_001407692.1:c.248A>G
- NM_001407694.1:c.248A>G
- NM_001407695.1:c.248A>G
- NM_001407696.1:c.248A>G
- NM_001407697.1:c.248A>G
- NM_001407698.1:c.248A>G
- NM_001407724.1:c.248A>G
- NM_001407725.1:c.248A>G
- NM_001407726.1:c.248A>G
- NM_001407727.1:c.248A>G
- NM_001407728.1:c.248A>G
- NM_001407729.1:c.248A>G
- NM_001407730.1:c.248A>G
- NM_001407731.1:c.248A>G
- NM_001407732.1:c.248A>G
- NM_001407733.1:c.248A>G
- NM_001407734.1:c.248A>G
- NM_001407735.1:c.248A>G
- NM_001407736.1:c.248A>G
- NM_001407737.1:c.248A>G
- NM_001407738.1:c.248A>G
- NM_001407739.1:c.248A>G
- NM_001407740.1:c.248A>G
- NM_001407741.1:c.248A>G
- NM_001407742.1:c.248A>G
- NM_001407743.1:c.248A>G
- NM_001407744.1:c.248A>G
- NM_001407745.1:c.248A>G
- NM_001407746.1:c.248A>G
- NM_001407747.1:c.248A>G
- NM_001407748.1:c.248A>G
- NM_001407749.1:c.248A>G
- NM_001407750.1:c.248A>G
- NM_001407751.1:c.248A>G
- NM_001407752.1:c.248A>G
- NM_001407838.1:c.248A>G
- NM_001407839.1:c.248A>G
- NM_001407841.1:c.248A>G
- NM_001407842.1:c.248A>G
- NM_001407843.1:c.248A>G
- NM_001407844.1:c.248A>G
- NM_001407845.1:c.248A>G
- NM_001407846.1:c.248A>G
- NM_001407847.1:c.248A>G
- NM_001407848.1:c.248A>G
- NM_001407849.1:c.248A>G
- NM_001407850.1:c.248A>G
- NM_001407851.1:c.248A>G
- NM_001407852.1:c.248A>G
- NM_001407853.1:c.179A>G
- NM_001407854.1:c.389A>G
- NM_001407858.1:c.389A>G
- NM_001407859.1:c.389A>G
- NM_001407860.1:c.389A>G
- NM_001407861.1:c.389A>G
- NM_001407862.1:c.311A>G
- NM_001407863.1:c.389A>G
- NM_001407874.1:c.311A>G
- NM_001407875.1:c.311A>G
- NM_001407879.1:c.179A>G
- NM_001407881.1:c.179A>G
- NM_001407882.1:c.179A>G
- NM_001407884.1:c.179A>G
- NM_001407885.1:c.179A>G
- NM_001407886.1:c.179A>G
- NM_001407887.1:c.179A>G
- NM_001407889.1:c.179A>G
- NM_001407894.1:c.179A>G
- NM_001407895.1:c.179A>G
- NM_001407896.1:c.179A>G
- NM_001407897.1:c.179A>G
- NM_001407898.1:c.179A>G
- NM_001407899.1:c.179A>G
- NM_001407900.1:c.179A>G
- NM_001407902.1:c.179A>G
- NM_001407904.1:c.179A>G
- NM_001407906.1:c.179A>G
- NM_001407907.1:c.179A>G
- NM_001407908.1:c.179A>G
- NM_001407909.1:c.179A>G
- NM_001407910.1:c.179A>G
- NM_001407915.1:c.179A>G
- NM_001407916.1:c.179A>G
- NM_001407917.1:c.179A>G
- NM_001407918.1:c.179A>G
- NM_001407919.1:c.389A>G
- NM_001407920.1:c.248A>G
- NM_001407921.1:c.248A>G
- NM_001407922.1:c.248A>G
- NM_001407923.1:c.248A>G
- NM_001407924.1:c.248A>G
- NM_001407925.1:c.248A>G
- NM_001407926.1:c.248A>G
- NM_001407927.1:c.248A>G
- NM_001407928.1:c.248A>G
- NM_001407929.1:c.248A>G
- NM_001407930.1:c.248A>G
- NM_001407931.1:c.248A>G
- NM_001407932.1:c.248A>G
- NM_001407933.1:c.248A>G
- NM_001407934.1:c.248A>G
- NM_001407935.1:c.248A>G
- NM_001407936.1:c.248A>G
- NM_001407937.1:c.389A>G
- NM_001407938.1:c.389A>G
- NM_001407939.1:c.389A>G
- NM_001407940.1:c.389A>G
- NM_001407941.1:c.389A>G
- NM_001407942.1:c.248A>G
- NM_001407943.1:c.248A>G
- NM_001407944.1:c.248A>G
- NM_001407945.1:c.248A>G
- NM_001407946.1:c.179A>G
- NM_001407947.1:c.179A>G
- NM_001407948.1:c.179A>G
- NM_001407949.1:c.179A>G
- NM_001407950.1:c.179A>G
- NM_001407951.1:c.179A>G
- NM_001407952.1:c.179A>G
- NM_001407953.1:c.179A>G
- NM_001407954.1:c.179A>G
- NM_001407955.1:c.179A>G
- NM_001407956.1:c.179A>G
- NM_001407957.1:c.179A>G
- NM_001407958.1:c.179A>G
- NM_001407959.1:c.8A>G
- NM_001407960.1:c.8A>G
- NM_001407962.1:c.8A>G
- NM_001407963.1:c.8A>G
- NM_001407964.1:c.248A>G
- NM_001407965.1:c.8A>G
- NM_001407968.1:c.389A>G
- NM_001407969.1:c.389A>G
- NM_001407970.1:c.389A>G
- NM_001407971.1:c.389A>G
- NM_001407972.1:c.389A>G
- NM_001407973.1:c.389A>G
- NM_001407974.1:c.389A>G
- NM_001407975.1:c.389A>G
- NM_001407976.1:c.389A>G
- NM_001407977.1:c.389A>G
- NM_001407978.1:c.389A>G
- NM_001407979.1:c.389A>G
- NM_001407980.1:c.389A>G
- NM_001407981.1:c.389A>G
- NM_001407982.1:c.389A>G
- NM_001407983.1:c.389A>G
- NM_001407984.1:c.389A>G
- NM_001407985.1:c.389A>G
- NM_001407986.1:c.389A>G
- NM_001407990.1:c.389A>G
- NM_001407991.1:c.389A>G
- NM_001407992.1:c.389A>G
- NM_001407993.1:c.389A>G
- NM_001408392.1:c.389A>G
- NM_001408396.1:c.389A>G
- NM_001408397.1:c.389A>G
- NM_001408398.1:c.389A>G
- NM_001408399.1:c.389A>G
- NM_001408400.1:c.389A>G
- NM_001408401.1:c.389A>G
- NM_001408402.1:c.389A>G
- NM_001408403.1:c.389A>G
- NM_001408404.1:c.389A>G
- NM_001408406.1:c.389A>G
- NM_001408407.1:c.389A>G
- NM_001408408.1:c.380A>G
- NM_001408409.1:c.311A>G
- NM_001408410.1:c.248A>G
- NM_001408411.1:c.311A>G
- NM_001408412.1:c.311A>G
- NM_001408413.1:c.311A>G
- NM_001408414.1:c.311A>G
- NM_001408415.1:c.311A>G
- NM_001408416.1:c.311A>G
- NM_001408418.1:c.389A>G
- NM_001408419.1:c.389A>G
- NM_001408420.1:c.389A>G
- NM_001408421.1:c.389A>G
- NM_001408422.1:c.389A>G
- NM_001408423.1:c.389A>G
- NM_001408424.1:c.389A>G
- NM_001408425.1:c.389A>G
- NM_001408426.1:c.389A>G
- NM_001408427.1:c.389A>G
- NM_001408428.1:c.389A>G
- NM_001408429.1:c.389A>G
- NM_001408430.1:c.389A>G
- NM_001408431.1:c.389A>G
- NM_001408432.1:c.389A>G
- NM_001408433.1:c.389A>G
- NM_001408434.1:c.389A>G
- NM_001408435.1:c.389A>G
- NM_001408436.1:c.389A>G
- NM_001408437.1:c.389A>G
- NM_001408438.1:c.389A>G
- NM_001408439.1:c.389A>G
- NM_001408440.1:c.389A>G
- NM_001408441.1:c.389A>G
- NM_001408442.1:c.389A>G
- NM_001408443.1:c.389A>G
- NM_001408444.1:c.389A>G
- NM_001408445.1:c.389A>G
- NM_001408446.1:c.389A>G
- NM_001408447.1:c.389A>G
- NM_001408448.1:c.389A>G
- NM_001408450.1:c.389A>G
- NM_001408451.1:c.257A>G
- NM_001408452.1:c.248A>G
- NM_001408453.1:c.248A>G
- NM_001408454.1:c.248A>G
- NM_001408455.1:c.248A>G
- NM_001408456.1:c.248A>G
- NM_001408457.1:c.248A>G
- NM_001408458.1:c.248A>G
- NM_001408459.1:c.248A>G
- NM_001408460.1:c.248A>G
- NM_001408461.1:c.248A>G
- NM_001408462.1:c.248A>G
- NM_001408463.1:c.248A>G
- NM_001408464.1:c.248A>G
- NM_001408465.1:c.248A>G
- NM_001408466.1:c.248A>G
- NM_001408467.1:c.248A>G
- NM_001408468.1:c.248A>G
- NM_001408469.1:c.248A>G
- NM_001408470.1:c.248A>G
- NM_001408472.1:c.389A>G
- NM_001408473.1:c.389A>G
- NM_001408474.1:c.311A>G
- NM_001408475.1:c.311A>G
- NM_001408476.1:c.311A>G
- NM_001408478.1:c.179A>G
- NM_001408479.1:c.179A>G
- NM_001408480.1:c.179A>G
- NM_001408481.1:c.179A>G
- NM_001408482.1:c.179A>G
- NM_001408483.1:c.179A>G
- NM_001408484.1:c.179A>G
- NM_001408485.1:c.179A>G
- NM_001408489.1:c.179A>G
- NM_001408490.1:c.179A>G
- NM_001408491.1:c.179A>G
- NM_001408492.1:c.179A>G
- NM_001408493.1:c.179A>G
- NM_001408494.1:c.389A>G
- NM_001408495.1:c.389A>G
- NM_001408496.1:c.248A>G
- NM_001408497.1:c.248A>G
- NM_001408498.1:c.248A>G
- NM_001408499.1:c.248A>G
- NM_001408500.1:c.248A>G
- NM_001408501.1:c.248A>G
- NM_001408502.1:c.179A>G
- NM_001408503.1:c.248A>G
- NM_001408504.1:c.248A>G
- NM_001408505.1:c.248A>G
- NM_001408506.1:c.179A>G
- NM_001408507.1:c.179A>G
- NM_001408508.1:c.179A>G
- NM_001408509.1:c.179A>G
- NM_001408510.1:c.8A>G
- NM_001408511.1:c.248A>G
- NM_001408512.1:c.8A>G
- NM_001408513.1:c.179A>G
- NM_001408514.1:c.179A>G
- NM_007294.4:c.389A>GMANE SELECT
- NM_007297.4:c.248A>G
- NM_007298.4:c.389A>G
- NM_007299.4:c.389A>G
- NM_007300.4:c.389A>G
- NM_007304.2:c.389A>G
- NP_001394500.1:p.Tyr60Cys
- NP_001394510.1:p.Tyr130Cys
- NP_001394511.1:p.Tyr130Cys
- NP_001394512.1:p.Tyr130Cys
- NP_001394514.1:p.Tyr130Cys
- NP_001394516.1:p.Tyr130Cys
- NP_001394519.1:p.Tyr130Cys
- NP_001394520.1:p.Tyr130Cys
- NP_001394522.1:p.Tyr130Cys
- NP_001394523.1:p.Tyr130Cys
- NP_001394525.1:p.Tyr130Cys
- NP_001394526.1:p.Tyr130Cys
- NP_001394527.1:p.Tyr130Cys
- NP_001394531.1:p.Tyr130Cys
- NP_001394532.1:p.Tyr130Cys
- NP_001394534.1:p.Tyr130Cys
- NP_001394539.1:p.Tyr130Cys
- NP_001394540.1:p.Tyr130Cys
- NP_001394541.1:p.Tyr130Cys
- NP_001394542.1:p.Tyr130Cys
- NP_001394543.1:p.Tyr130Cys
- NP_001394544.1:p.Tyr130Cys
- NP_001394545.1:p.Tyr130Cys
- NP_001394546.1:p.Tyr130Cys
- NP_001394547.1:p.Tyr130Cys
- NP_001394548.1:p.Tyr130Cys
- NP_001394549.1:p.Tyr130Cys
- NP_001394550.1:p.Tyr130Cys
- NP_001394551.1:p.Tyr130Cys
- NP_001394552.1:p.Tyr130Cys
- NP_001394553.1:p.Tyr130Cys
- NP_001394554.1:p.Tyr130Cys
- NP_001394555.1:p.Tyr130Cys
- NP_001394556.1:p.Tyr130Cys
- NP_001394557.1:p.Tyr130Cys
- NP_001394558.1:p.Tyr130Cys
- NP_001394559.1:p.Tyr130Cys
- NP_001394560.1:p.Tyr130Cys
- NP_001394561.1:p.Tyr130Cys
- NP_001394562.1:p.Tyr130Cys
- NP_001394563.1:p.Tyr130Cys
- NP_001394564.1:p.Tyr130Cys
- NP_001394565.1:p.Tyr130Cys
- NP_001394566.1:p.Tyr130Cys
- NP_001394567.1:p.Tyr130Cys
- NP_001394568.1:p.Tyr130Cys
- NP_001394569.1:p.Tyr130Cys
- NP_001394570.1:p.Tyr130Cys
- NP_001394571.1:p.Tyr130Cys
- NP_001394573.1:p.Tyr130Cys
- NP_001394574.1:p.Tyr130Cys
- NP_001394575.1:p.Tyr127Cys
- NP_001394576.1:p.Tyr127Cys
- NP_001394577.1:p.Tyr130Cys
- NP_001394578.1:p.Tyr130Cys
- NP_001394581.1:p.Tyr130Cys
- NP_001394582.1:p.Tyr104Cys
- NP_001394583.1:p.Tyr104Cys
- NP_001394584.1:p.Tyr104Cys
- NP_001394585.1:p.Tyr104Cys
- NP_001394586.1:p.Tyr104Cys
- NP_001394587.1:p.Tyr104Cys
- NP_001394588.1:p.Tyr104Cys
- NP_001394589.1:p.Tyr104Cys
- NP_001394590.1:p.Tyr104Cys
- NP_001394591.1:p.Tyr104Cys
- NP_001394592.1:p.Tyr104Cys
- NP_001394593.1:p.Tyr130Cys
- NP_001394594.1:p.Tyr130Cys
- NP_001394595.1:p.Tyr130Cys
- NP_001394596.1:p.Tyr130Cys
- NP_001394597.1:p.Tyr130Cys
- NP_001394598.1:p.Tyr130Cys
- NP_001394599.1:p.Tyr130Cys
- NP_001394600.1:p.Tyr130Cys
- NP_001394601.1:p.Tyr130Cys
- NP_001394602.1:p.Tyr130Cys
- NP_001394603.1:p.Tyr130Cys
- NP_001394604.1:p.Tyr130Cys
- NP_001394605.1:p.Tyr130Cys
- NP_001394606.1:p.Tyr130Cys
- NP_001394607.1:p.Tyr130Cys
- NP_001394608.1:p.Tyr130Cys
- NP_001394609.1:p.Tyr130Cys
- NP_001394610.1:p.Tyr130Cys
- NP_001394611.1:p.Tyr130Cys
- NP_001394612.1:p.Tyr130Cys
- NP_001394613.1:p.Tyr130Cys
- NP_001394614.1:p.Tyr130Cys
- NP_001394615.1:p.Tyr130Cys
- NP_001394616.1:p.Tyr130Cys
- NP_001394617.1:p.Tyr130Cys
- NP_001394618.1:p.Tyr130Cys
- NP_001394619.1:p.Tyr130Cys
- NP_001394620.1:p.Tyr130Cys
- NP_001394621.1:p.Tyr83Cys
- NP_001394623.1:p.Tyr83Cys
- NP_001394624.1:p.Tyr83Cys
- NP_001394625.1:p.Tyr83Cys
- NP_001394626.1:p.Tyr83Cys
- NP_001394627.1:p.Tyr83Cys
- NP_001394653.1:p.Tyr83Cys
- NP_001394654.1:p.Tyr83Cys
- NP_001394655.1:p.Tyr83Cys
- NP_001394656.1:p.Tyr83Cys
- NP_001394657.1:p.Tyr83Cys
- NP_001394658.1:p.Tyr83Cys
- NP_001394659.1:p.Tyr83Cys
- NP_001394660.1:p.Tyr83Cys
- NP_001394661.1:p.Tyr83Cys
- NP_001394662.1:p.Tyr83Cys
- NP_001394663.1:p.Tyr83Cys
- NP_001394664.1:p.Tyr83Cys
- NP_001394665.1:p.Tyr83Cys
- NP_001394666.1:p.Tyr83Cys
- NP_001394667.1:p.Tyr83Cys
- NP_001394668.1:p.Tyr83Cys
- NP_001394669.1:p.Tyr83Cys
- NP_001394670.1:p.Tyr83Cys
- NP_001394671.1:p.Tyr83Cys
- NP_001394672.1:p.Tyr83Cys
- NP_001394673.1:p.Tyr83Cys
- NP_001394674.1:p.Tyr83Cys
- NP_001394675.1:p.Tyr83Cys
- NP_001394676.1:p.Tyr83Cys
- NP_001394677.1:p.Tyr83Cys
- NP_001394678.1:p.Tyr83Cys
- NP_001394679.1:p.Tyr83Cys
- NP_001394680.1:p.Tyr83Cys
- NP_001394681.1:p.Tyr83Cys
- NP_001394767.1:p.Tyr83Cys
- NP_001394768.1:p.Tyr83Cys
- NP_001394770.1:p.Tyr83Cys
- NP_001394771.1:p.Tyr83Cys
- NP_001394772.1:p.Tyr83Cys
- NP_001394773.1:p.Tyr83Cys
- NP_001394774.1:p.Tyr83Cys
- NP_001394775.1:p.Tyr83Cys
- NP_001394776.1:p.Tyr83Cys
- NP_001394777.1:p.Tyr83Cys
- NP_001394778.1:p.Tyr83Cys
- NP_001394779.1:p.Tyr83Cys
- NP_001394780.1:p.Tyr83Cys
- NP_001394781.1:p.Tyr83Cys
- NP_001394782.1:p.Tyr60Cys
- NP_001394783.1:p.Tyr130Cys
- NP_001394787.1:p.Tyr130Cys
- NP_001394788.1:p.Tyr130Cys
- NP_001394789.1:p.Tyr130Cys
- NP_001394790.1:p.Tyr130Cys
- NP_001394791.1:p.Tyr104Cys
- NP_001394792.1:p.Tyr130Cys
- NP_001394803.1:p.Tyr104Cys
- NP_001394804.1:p.Tyr104Cys
- NP_001394808.1:p.Tyr60Cys
- NP_001394810.1:p.Tyr60Cys
- NP_001394811.1:p.Tyr60Cys
- NP_001394813.1:p.Tyr60Cys
- NP_001394814.1:p.Tyr60Cys
- NP_001394815.1:p.Tyr60Cys
- NP_001394816.1:p.Tyr60Cys
- NP_001394818.1:p.Tyr60Cys
- NP_001394823.1:p.Tyr60Cys
- NP_001394824.1:p.Tyr60Cys
- NP_001394825.1:p.Tyr60Cys
- NP_001394826.1:p.Tyr60Cys
- NP_001394827.1:p.Tyr60Cys
- NP_001394828.1:p.Tyr60Cys
- NP_001394829.1:p.Tyr60Cys
- NP_001394831.1:p.Tyr60Cys
- NP_001394833.1:p.Tyr60Cys
- NP_001394835.1:p.Tyr60Cys
- NP_001394836.1:p.Tyr60Cys
- NP_001394837.1:p.Tyr60Cys
- NP_001394838.1:p.Tyr60Cys
- NP_001394839.1:p.Tyr60Cys
- NP_001394844.1:p.Tyr60Cys
- NP_001394845.1:p.Tyr60Cys
- NP_001394846.1:p.Tyr60Cys
- NP_001394847.1:p.Tyr60Cys
- NP_001394848.1:p.Tyr130Cys
- NP_001394849.1:p.Tyr83Cys
- NP_001394850.1:p.Tyr83Cys
- NP_001394851.1:p.Tyr83Cys
- NP_001394852.1:p.Tyr83Cys
- NP_001394853.1:p.Tyr83Cys
- NP_001394854.1:p.Tyr83Cys
- NP_001394855.1:p.Tyr83Cys
- NP_001394856.1:p.Tyr83Cys
- NP_001394857.1:p.Tyr83Cys
- NP_001394858.1:p.Tyr83Cys
- NP_001394859.1:p.Tyr83Cys
- NP_001394860.1:p.Tyr83Cys
- NP_001394861.1:p.Tyr83Cys
- NP_001394862.1:p.Tyr83Cys
- NP_001394863.1:p.Tyr83Cys
- NP_001394864.1:p.Tyr83Cys
- NP_001394865.1:p.Tyr83Cys
- NP_001394866.1:p.Tyr130Cys
- NP_001394867.1:p.Tyr130Cys
- NP_001394868.1:p.Tyr130Cys
- NP_001394869.1:p.Tyr130Cys
- NP_001394870.1:p.Tyr130Cys
- NP_001394871.1:p.Tyr83Cys
- NP_001394872.1:p.Tyr83Cys
- NP_001394873.1:p.Tyr83Cys
- NP_001394874.1:p.Tyr83Cys
- NP_001394875.1:p.Tyr60Cys
- NP_001394876.1:p.Tyr60Cys
- NP_001394877.1:p.Tyr60Cys
- NP_001394878.1:p.Tyr60Cys
- NP_001394879.1:p.Tyr60Cys
- NP_001394880.1:p.Tyr60Cys
- NP_001394881.1:p.Tyr60Cys
- NP_001394882.1:p.Tyr60Cys
- NP_001394883.1:p.Tyr60Cys
- NP_001394884.1:p.Tyr60Cys
- NP_001394885.1:p.Tyr60Cys
- NP_001394886.1:p.Tyr60Cys
- NP_001394887.1:p.Tyr60Cys
- NP_001394888.1:p.Tyr3Cys
- NP_001394889.1:p.Tyr3Cys
- NP_001394891.1:p.Tyr3Cys
- NP_001394892.1:p.Tyr3Cys
- NP_001394893.1:p.Tyr83Cys
- NP_001394894.1:p.Tyr3Cys
- NP_001394897.1:p.Tyr130Cys
- NP_001394898.1:p.Tyr130Cys
- NP_001394899.1:p.Tyr130Cys
- NP_001394900.1:p.Tyr130Cys
- NP_001394901.1:p.Tyr130Cys
- NP_001394902.1:p.Tyr130Cys
- NP_001394903.1:p.Tyr130Cys
- NP_001394904.1:p.Tyr130Cys
- NP_001394905.1:p.Tyr130Cys
- NP_001394906.1:p.Tyr130Cys
- NP_001394907.1:p.Tyr130Cys
- NP_001394908.1:p.Tyr130Cys
- NP_001394909.1:p.Tyr130Cys
- NP_001394910.1:p.Tyr130Cys
- NP_001394911.1:p.Tyr130Cys
- NP_001394912.1:p.Tyr130Cys
- NP_001394913.1:p.Tyr130Cys
- NP_001394914.1:p.Tyr130Cys
- NP_001394915.1:p.Tyr130Cys
- NP_001394919.1:p.Tyr130Cys
- NP_001394920.1:p.Tyr130Cys
- NP_001394921.1:p.Tyr130Cys
- NP_001394922.1:p.Tyr130Cys
- NP_001395321.1:p.Tyr130Cys
- NP_001395325.1:p.Tyr130Cys
- NP_001395326.1:p.Tyr130Cys
- NP_001395327.1:p.Tyr130Cys
- NP_001395328.1:p.Tyr130Cys
- NP_001395329.1:p.Tyr130Cys
- NP_001395330.1:p.Tyr130Cys
- NP_001395331.1:p.Tyr130Cys
- NP_001395332.1:p.Tyr130Cys
- NP_001395333.1:p.Tyr130Cys
- NP_001395335.1:p.Tyr130Cys
- NP_001395336.1:p.Tyr130Cys
- NP_001395337.1:p.Tyr127Cys
- NP_001395338.1:p.Tyr104Cys
- NP_001395339.1:p.Tyr83Cys
- NP_001395340.1:p.Tyr104Cys
- NP_001395341.1:p.Tyr104Cys
- NP_001395342.1:p.Tyr104Cys
- NP_001395343.1:p.Tyr104Cys
- NP_001395344.1:p.Tyr104Cys
- NP_001395345.1:p.Tyr104Cys
- NP_001395347.1:p.Tyr130Cys
- NP_001395348.1:p.Tyr130Cys
- NP_001395349.1:p.Tyr130Cys
- NP_001395350.1:p.Tyr130Cys
- NP_001395351.1:p.Tyr130Cys
- NP_001395352.1:p.Tyr130Cys
- NP_001395353.1:p.Tyr130Cys
- NP_001395354.1:p.Tyr130Cys
- NP_001395355.1:p.Tyr130Cys
- NP_001395356.1:p.Tyr130Cys
- NP_001395357.1:p.Tyr130Cys
- NP_001395358.1:p.Tyr130Cys
- NP_001395359.1:p.Tyr130Cys
- NP_001395360.1:p.Tyr130Cys
- NP_001395361.1:p.Tyr130Cys
- NP_001395362.1:p.Tyr130Cys
- NP_001395363.1:p.Tyr130Cys
- NP_001395364.1:p.Tyr130Cys
- NP_001395365.1:p.Tyr130Cys
- NP_001395366.1:p.Tyr130Cys
- NP_001395367.1:p.Tyr130Cys
- NP_001395368.1:p.Tyr130Cys
- NP_001395369.1:p.Tyr130Cys
- NP_001395370.1:p.Tyr130Cys
- NP_001395371.1:p.Tyr130Cys
- NP_001395372.1:p.Tyr130Cys
- NP_001395373.1:p.Tyr130Cys
- NP_001395374.1:p.Tyr130Cys
- NP_001395375.1:p.Tyr130Cys
- NP_001395376.1:p.Tyr130Cys
- NP_001395377.1:p.Tyr130Cys
- NP_001395379.1:p.Tyr130Cys
- NP_001395380.1:p.Tyr86Cys
- NP_001395381.1:p.Tyr83Cys
- NP_001395382.1:p.Tyr83Cys
- NP_001395383.1:p.Tyr83Cys
- NP_001395384.1:p.Tyr83Cys
- NP_001395385.1:p.Tyr83Cys
- NP_001395386.1:p.Tyr83Cys
- NP_001395387.1:p.Tyr83Cys
- NP_001395388.1:p.Tyr83Cys
- NP_001395389.1:p.Tyr83Cys
- NP_001395390.1:p.Tyr83Cys
- NP_001395391.1:p.Tyr83Cys
- NP_001395392.1:p.Tyr83Cys
- NP_001395393.1:p.Tyr83Cys
- NP_001395394.1:p.Tyr83Cys
- NP_001395395.1:p.Tyr83Cys
- NP_001395396.1:p.Tyr83Cys
- NP_001395397.1:p.Tyr83Cys
- NP_001395398.1:p.Tyr83Cys
- NP_001395399.1:p.Tyr83Cys
- NP_001395401.1:p.Tyr130Cys
- NP_001395402.1:p.Tyr130Cys
- NP_001395403.1:p.Tyr104Cys
- NP_001395404.1:p.Tyr104Cys
- NP_001395405.1:p.Tyr104Cys
- NP_001395407.1:p.Tyr60Cys
- NP_001395408.1:p.Tyr60Cys
- NP_001395409.1:p.Tyr60Cys
- NP_001395410.1:p.Tyr60Cys
- NP_001395411.1:p.Tyr60Cys
- NP_001395412.1:p.Tyr60Cys
- NP_001395413.1:p.Tyr60Cys
- NP_001395414.1:p.Tyr60Cys
- NP_001395418.1:p.Tyr60Cys
- NP_001395419.1:p.Tyr60Cys
- NP_001395420.1:p.Tyr60Cys
- NP_001395421.1:p.Tyr60Cys
- NP_001395422.1:p.Tyr60Cys
- NP_001395423.1:p.Tyr130Cys
- NP_001395424.1:p.Tyr130Cys
- NP_001395425.1:p.Tyr83Cys
- NP_001395426.1:p.Tyr83Cys
- NP_001395427.1:p.Tyr83Cys
- NP_001395428.1:p.Tyr83Cys
- NP_001395429.1:p.Tyr83Cys
- NP_001395430.1:p.Tyr83Cys
- NP_001395431.1:p.Tyr60Cys
- NP_001395432.1:p.Tyr83Cys
- NP_001395433.1:p.Tyr83Cys
- NP_001395434.1:p.Tyr83Cys
- NP_001395435.1:p.Tyr60Cys
- NP_001395436.1:p.Tyr60Cys
- NP_001395437.1:p.Tyr60Cys
- NP_001395438.1:p.Tyr60Cys
- NP_001395439.1:p.Tyr3Cys
- NP_001395440.1:p.Tyr83Cys
- NP_001395441.1:p.Tyr3Cys
- NP_001395442.1:p.Tyr60Cys
- NP_001395443.1:p.Tyr60Cys
- NP_009225.1:p.Tyr130Cys
- NP_009225.1:p.Tyr130Cys
- NP_009228.2:p.Tyr83Cys
- NP_009229.2:p.Tyr130Cys
- NP_009229.2:p.Tyr130Cys
- NP_009230.2:p.Tyr130Cys
- NP_009231.2:p.Tyr130Cys
- NP_009235.2:p.Tyr130Cys
- LRG_292t1:c.389A>G
- LRG_292:g.113810A>G
- LRG_292p1:p.Tyr130Cys
- NC_000017.10:g.41256191T>C
- NM_007294.3:c.389A>G
- NM_007298.3:c.389A>G
- NR_027676.2:n.569A>G
This HGVS expression did not pass validation- Nucleotide change:
- 508A>G
- Protein change:
- Y104C
- Links:
- dbSNP: rs56055578
- NCBI 1000 Genomes Browser:
- rs56055578
- Molecular consequence:
- NM_001407571.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.257A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.311A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.8A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.248A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.389A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.569A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV005025888 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Mar 11, 2024) | 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 |
Details of each submission
From Ambry Genetics, SCV005025888.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.Y130C variant (also known as c.389A>G), located in coding exon 5 of the BRCA1 gene, results from an A to G substitution at nucleotide position 389. The tyrosine at codon 130 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
# | 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: Sep 29, 2024