NM_007294.4(BRCA1):c.3994G>C (p.Gly1332Arg) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 29, 2022
- 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:
- RCV001222187.7
Allele description [Variation Report for NM_007294.4(BRCA1):c.3994G>C (p.Gly1332Arg)]
NM_007294.4(BRCA1):c.3994G>C (p.Gly1332Arg)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.3994G>C (p.Gly1332Arg)
- HGVS:
- NC_000017.11:g.43091537C>G
- NG_005905.2:g.126447G>C
- NG_087068.1:g.519C>G
- NM_001407571.1:c.3781G>C
- NM_001407581.1:c.3994G>C
- NM_001407582.1:c.3994G>C
- NM_001407583.1:c.3994G>C
- NM_001407585.1:c.3994G>C
- NM_001407587.1:c.3991G>C
- NM_001407590.1:c.3991G>C
- NM_001407591.1:c.3991G>C
- NM_001407593.1:c.3994G>C
- NM_001407594.1:c.3994G>C
- NM_001407596.1:c.3994G>C
- NM_001407597.1:c.3994G>C
- NM_001407598.1:c.3994G>C
- NM_001407602.1:c.3994G>C
- NM_001407603.1:c.3994G>C
- NM_001407605.1:c.3994G>C
- NM_001407610.1:c.3991G>C
- NM_001407611.1:c.3991G>C
- NM_001407612.1:c.3991G>C
- NM_001407613.1:c.3991G>C
- NM_001407614.1:c.3991G>C
- NM_001407615.1:c.3991G>C
- NM_001407616.1:c.3994G>C
- NM_001407617.1:c.3994G>C
- NM_001407618.1:c.3994G>C
- NM_001407619.1:c.3994G>C
- NM_001407620.1:c.3994G>C
- NM_001407621.1:c.3994G>C
- NM_001407622.1:c.3994G>C
- NM_001407623.1:c.3994G>C
- NM_001407624.1:c.3994G>C
- NM_001407625.1:c.3994G>C
- NM_001407626.1:c.3994G>C
- NM_001407627.1:c.3991G>C
- NM_001407628.1:c.3991G>C
- NM_001407629.1:c.3991G>C
- NM_001407630.1:c.3991G>C
- NM_001407631.1:c.3991G>C
- NM_001407632.1:c.3991G>C
- NM_001407633.1:c.3991G>C
- NM_001407634.1:c.3991G>C
- NM_001407635.1:c.3991G>C
- NM_001407636.1:c.3991G>C
- NM_001407637.1:c.3991G>C
- NM_001407638.1:c.3991G>C
- NM_001407639.1:c.3994G>C
- NM_001407640.1:c.3994G>C
- NM_001407641.1:c.3994G>C
- NM_001407642.1:c.3994G>C
- NM_001407644.1:c.3991G>C
- NM_001407645.1:c.3991G>C
- NM_001407646.1:c.3985G>C
- NM_001407647.1:c.3985G>C
- NM_001407648.1:c.3871G>C
- NM_001407649.1:c.3868G>C
- NM_001407652.1:c.3994G>C
- NM_001407653.1:c.3916G>C
- NM_001407654.1:c.3916G>C
- NM_001407655.1:c.3916G>C
- NM_001407656.1:c.3916G>C
- NM_001407657.1:c.3916G>C
- NM_001407658.1:c.3916G>C
- NM_001407659.1:c.3913G>C
- NM_001407660.1:c.3913G>C
- NM_001407661.1:c.3913G>C
- NM_001407662.1:c.3913G>C
- NM_001407663.1:c.3916G>C
- NM_001407664.1:c.3871G>C
- NM_001407665.1:c.3871G>C
- NM_001407666.1:c.3871G>C
- NM_001407667.1:c.3871G>C
- NM_001407668.1:c.3871G>C
- NM_001407669.1:c.3871G>C
- NM_001407670.1:c.3868G>C
- NM_001407671.1:c.3868G>C
- NM_001407672.1:c.3868G>C
- NM_001407673.1:c.3868G>C
- NM_001407674.1:c.3871G>C
- NM_001407675.1:c.3871G>C
- NM_001407676.1:c.3871G>C
- NM_001407677.1:c.3871G>C
- NM_001407678.1:c.3871G>C
- NM_001407679.1:c.3871G>C
- NM_001407680.1:c.3871G>C
- NM_001407681.1:c.3871G>C
- NM_001407682.1:c.3871G>C
- NM_001407683.1:c.3871G>C
- NM_001407684.1:c.3994G>C
- NM_001407685.1:c.3868G>C
- NM_001407686.1:c.3868G>C
- NM_001407687.1:c.3868G>C
- NM_001407688.1:c.3868G>C
- NM_001407689.1:c.3868G>C
- NM_001407690.1:c.3868G>C
- NM_001407691.1:c.3868G>C
- NM_001407692.1:c.3853G>C
- NM_001407694.1:c.3853G>C
- NM_001407695.1:c.3853G>C
- NM_001407696.1:c.3853G>C
- NM_001407697.1:c.3853G>C
- NM_001407698.1:c.3853G>C
- NM_001407724.1:c.3853G>C
- NM_001407725.1:c.3853G>C
- NM_001407726.1:c.3853G>C
- NM_001407727.1:c.3853G>C
- NM_001407728.1:c.3853G>C
- NM_001407729.1:c.3853G>C
- NM_001407730.1:c.3853G>C
- NM_001407731.1:c.3853G>C
- NM_001407732.1:c.3853G>C
- NM_001407733.1:c.3853G>C
- NM_001407734.1:c.3853G>C
- NM_001407735.1:c.3853G>C
- NM_001407736.1:c.3853G>C
- NM_001407737.1:c.3853G>C
- NM_001407738.1:c.3853G>C
- NM_001407739.1:c.3853G>C
- NM_001407740.1:c.3850G>C
- NM_001407741.1:c.3850G>C
- NM_001407742.1:c.3850G>C
- NM_001407743.1:c.3850G>C
- NM_001407744.1:c.3850G>C
- NM_001407745.1:c.3850G>C
- NM_001407746.1:c.3850G>C
- NM_001407747.1:c.3850G>C
- NM_001407748.1:c.3850G>C
- NM_001407749.1:c.3850G>C
- NM_001407750.1:c.3853G>C
- NM_001407751.1:c.3853G>C
- NM_001407752.1:c.3853G>C
- NM_001407838.1:c.3850G>C
- NM_001407839.1:c.3850G>C
- NM_001407841.1:c.3850G>C
- NM_001407842.1:c.3850G>C
- NM_001407843.1:c.3850G>C
- NM_001407844.1:c.3850G>C
- NM_001407845.1:c.3850G>C
- NM_001407846.1:c.3850G>C
- NM_001407847.1:c.3850G>C
- NM_001407848.1:c.3850G>C
- NM_001407849.1:c.3850G>C
- NM_001407850.1:c.3853G>C
- NM_001407851.1:c.3853G>C
- NM_001407852.1:c.3853G>C
- NM_001407853.1:c.3781G>C
- NM_001407854.1:c.3994G>C
- NM_001407858.1:c.3994G>C
- NM_001407859.1:c.3994G>C
- NM_001407860.1:c.3991G>C
- NM_001407861.1:c.3991G>C
- NM_001407862.1:c.3793G>C
- NM_001407863.1:c.3871G>C
- NM_001407874.1:c.3790G>C
- NM_001407875.1:c.3790G>C
- NM_001407879.1:c.3784G>C
- NM_001407881.1:c.3784G>C
- NM_001407882.1:c.3784G>C
- NM_001407884.1:c.3784G>C
- NM_001407885.1:c.3784G>C
- NM_001407886.1:c.3784G>C
- NM_001407887.1:c.3784G>C
- NM_001407889.1:c.3784G>C
- NM_001407894.1:c.3781G>C
- NM_001407895.1:c.3781G>C
- NM_001407896.1:c.3781G>C
- NM_001407897.1:c.3781G>C
- NM_001407898.1:c.3781G>C
- NM_001407899.1:c.3781G>C
- NM_001407900.1:c.3784G>C
- NM_001407902.1:c.3784G>C
- NM_001407904.1:c.3784G>C
- NM_001407906.1:c.3784G>C
- NM_001407907.1:c.3784G>C
- NM_001407908.1:c.3784G>C
- NM_001407909.1:c.3784G>C
- NM_001407910.1:c.3784G>C
- NM_001407915.1:c.3781G>C
- NM_001407916.1:c.3781G>C
- NM_001407917.1:c.3781G>C
- NM_001407918.1:c.3781G>C
- NM_001407919.1:c.3871G>C
- NM_001407920.1:c.3730G>C
- NM_001407921.1:c.3730G>C
- NM_001407922.1:c.3730G>C
- NM_001407923.1:c.3730G>C
- NM_001407924.1:c.3730G>C
- NM_001407925.1:c.3730G>C
- NM_001407926.1:c.3730G>C
- NM_001407927.1:c.3730G>C
- NM_001407928.1:c.3730G>C
- NM_001407929.1:c.3730G>C
- NM_001407930.1:c.3727G>C
- NM_001407931.1:c.3727G>C
- NM_001407932.1:c.3727G>C
- NM_001407933.1:c.3730G>C
- NM_001407934.1:c.3727G>C
- NM_001407935.1:c.3730G>C
- NM_001407936.1:c.3727G>C
- NM_001407937.1:c.3871G>C
- NM_001407938.1:c.3871G>C
- NM_001407939.1:c.3871G>C
- NM_001407940.1:c.3868G>C
- NM_001407941.1:c.3868G>C
- NM_001407942.1:c.3853G>C
- NM_001407943.1:c.3850G>C
- NM_001407944.1:c.3853G>C
- NM_001407945.1:c.3853G>C
- NM_001407946.1:c.3661G>C
- NM_001407947.1:c.3661G>C
- NM_001407948.1:c.3661G>C
- NM_001407949.1:c.3661G>C
- NM_001407950.1:c.3661G>C
- NM_001407951.1:c.3661G>C
- NM_001407952.1:c.3661G>C
- NM_001407953.1:c.3661G>C
- NM_001407954.1:c.3658G>C
- NM_001407955.1:c.3658G>C
- NM_001407956.1:c.3658G>C
- NM_001407957.1:c.3661G>C
- NM_001407958.1:c.3658G>C
- NM_001407959.1:c.3613G>C
- NM_001407960.1:c.3613G>C
- NM_001407962.1:c.3610G>C
- NM_001407963.1:c.3613G>C
- NM_001407964.1:c.3850G>C
- NM_001407965.1:c.3490G>C
- NM_001407966.1:c.3106G>C
- NM_001407967.1:c.3106G>C
- NM_001407968.1:c.1390G>C
- NM_001407969.1:c.1390G>C
- NM_001407970.1:c.788-505G>C
- NM_001407971.1:c.788-505G>C
- NM_001407972.1:c.785-505G>C
- NM_001407973.1:c.788-505G>C
- NM_001407974.1:c.788-505G>C
- NM_001407975.1:c.788-505G>C
- NM_001407976.1:c.788-505G>C
- NM_001407977.1:c.788-505G>C
- NM_001407978.1:c.788-505G>C
- NM_001407979.1:c.788-505G>C
- NM_001407980.1:c.788-505G>C
- NM_001407981.1:c.788-505G>C
- NM_001407982.1:c.788-505G>C
- NM_001407983.1:c.788-505G>C
- NM_001407984.1:c.785-505G>C
- NM_001407985.1:c.785-505G>C
- NM_001407986.1:c.785-505G>C
- NM_001407990.1:c.788-505G>C
- NM_001407991.1:c.785-505G>C
- NM_001407992.1:c.785-505G>C
- NM_001407993.1:c.788-505G>C
- NM_001408392.1:c.785-505G>C
- NM_001408396.1:c.785-505G>C
- NM_001408397.1:c.785-505G>C
- NM_001408398.1:c.785-505G>C
- NM_001408399.1:c.785-505G>C
- NM_001408400.1:c.785-505G>C
- NM_001408401.1:c.785-505G>C
- NM_001408402.1:c.785-505G>C
- NM_001408403.1:c.788-505G>C
- NM_001408404.1:c.788-505G>C
- NM_001408406.1:c.791-514G>C
- NM_001408407.1:c.785-505G>C
- NM_001408408.1:c.779-505G>C
- NM_001408409.1:c.710-505G>C
- NM_001408410.1:c.647-505G>C
- NM_001408411.1:c.710-505G>C
- NM_001408412.1:c.710-505G>C
- NM_001408413.1:c.707-505G>C
- NM_001408414.1:c.710-505G>C
- NM_001408415.1:c.710-505G>C
- NM_001408416.1:c.707-505G>C
- NM_001408418.1:c.671-505G>C
- NM_001408419.1:c.671-505G>C
- NM_001408420.1:c.671-505G>C
- NM_001408421.1:c.668-505G>C
- NM_001408422.1:c.671-505G>C
- NM_001408423.1:c.671-505G>C
- NM_001408424.1:c.668-505G>C
- NM_001408425.1:c.665-505G>C
- NM_001408426.1:c.665-505G>C
- NM_001408427.1:c.665-505G>C
- NM_001408428.1:c.665-505G>C
- NM_001408429.1:c.665-505G>C
- NM_001408430.1:c.665-505G>C
- NM_001408431.1:c.668-505G>C
- NM_001408432.1:c.662-505G>C
- NM_001408433.1:c.662-505G>C
- NM_001408434.1:c.662-505G>C
- NM_001408435.1:c.662-505G>C
- NM_001408436.1:c.665-505G>C
- NM_001408437.1:c.665-505G>C
- NM_001408438.1:c.665-505G>C
- NM_001408439.1:c.665-505G>C
- NM_001408440.1:c.665-505G>C
- NM_001408441.1:c.665-505G>C
- NM_001408442.1:c.665-505G>C
- NM_001408443.1:c.665-505G>C
- NM_001408444.1:c.665-505G>C
- NM_001408445.1:c.662-505G>C
- NM_001408446.1:c.662-505G>C
- NM_001408447.1:c.662-505G>C
- NM_001408448.1:c.662-505G>C
- NM_001408450.1:c.662-505G>C
- NM_001408451.1:c.653-505G>C
- NM_001408452.1:c.647-505G>C
- NM_001408453.1:c.647-505G>C
- NM_001408454.1:c.647-505G>C
- NM_001408455.1:c.647-505G>C
- NM_001408456.1:c.647-505G>C
- NM_001408457.1:c.647-505G>C
- NM_001408458.1:c.647-505G>C
- NM_001408459.1:c.647-505G>C
- NM_001408460.1:c.647-505G>C
- NM_001408461.1:c.647-505G>C
- NM_001408462.1:c.644-505G>C
- NM_001408463.1:c.644-505G>C
- NM_001408464.1:c.644-505G>C
- NM_001408465.1:c.644-505G>C
- NM_001408466.1:c.647-505G>C
- NM_001408467.1:c.647-505G>C
- NM_001408468.1:c.644-505G>C
- NM_001408469.1:c.647-505G>C
- NM_001408470.1:c.644-505G>C
- NM_001408472.1:c.788-505G>C
- NM_001408473.1:c.785-505G>C
- NM_001408474.1:c.587-505G>C
- NM_001408475.1:c.584-505G>C
- NM_001408476.1:c.587-505G>C
- NM_001408478.1:c.578-505G>C
- NM_001408479.1:c.578-505G>C
- NM_001408480.1:c.578-505G>C
- NM_001408481.1:c.578-505G>C
- NM_001408482.1:c.578-505G>C
- NM_001408483.1:c.578-505G>C
- NM_001408484.1:c.578-505G>C
- NM_001408485.1:c.578-505G>C
- NM_001408489.1:c.578-505G>C
- NM_001408490.1:c.575-505G>C
- NM_001408491.1:c.575-505G>C
- NM_001408492.1:c.578-505G>C
- NM_001408493.1:c.575-505G>C
- NM_001408494.1:c.548-505G>C
- NM_001408495.1:c.545-505G>C
- NM_001408496.1:c.524-505G>C
- NM_001408497.1:c.524-505G>C
- NM_001408498.1:c.524-505G>C
- NM_001408499.1:c.524-505G>C
- NM_001408500.1:c.524-505G>C
- NM_001408501.1:c.524-505G>C
- NM_001408502.1:c.455-505G>C
- NM_001408503.1:c.521-505G>C
- NM_001408504.1:c.521-505G>C
- NM_001408505.1:c.521-505G>C
- NM_001408506.1:c.461-505G>C
- NM_001408507.1:c.461-505G>C
- NM_001408508.1:c.452-505G>C
- NM_001408509.1:c.452-505G>C
- NM_001408510.1:c.407-505G>C
- NM_001408511.1:c.404-505G>C
- NM_001408512.1:c.284-505G>C
- NM_001408513.1:c.578-505G>C
- NM_001408514.1:c.578-505G>C
- NM_007294.4:c.3994G>CMANE SELECT
- NM_007297.4:c.3853G>C
- NM_007298.4:c.788-505G>C
- NM_007299.4:c.788-505G>C
- NM_007300.4:c.3994G>C
- NP_001394500.1:p.Gly1261Arg
- NP_001394510.1:p.Gly1332Arg
- NP_001394511.1:p.Gly1332Arg
- NP_001394512.1:p.Gly1332Arg
- NP_001394514.1:p.Gly1332Arg
- NP_001394516.1:p.Gly1331Arg
- NP_001394519.1:p.Gly1331Arg
- NP_001394520.1:p.Gly1331Arg
- NP_001394522.1:p.Gly1332Arg
- NP_001394523.1:p.Gly1332Arg
- NP_001394525.1:p.Gly1332Arg
- NP_001394526.1:p.Gly1332Arg
- NP_001394527.1:p.Gly1332Arg
- NP_001394531.1:p.Gly1332Arg
- NP_001394532.1:p.Gly1332Arg
- NP_001394534.1:p.Gly1332Arg
- NP_001394539.1:p.Gly1331Arg
- NP_001394540.1:p.Gly1331Arg
- NP_001394541.1:p.Gly1331Arg
- NP_001394542.1:p.Gly1331Arg
- NP_001394543.1:p.Gly1331Arg
- NP_001394544.1:p.Gly1331Arg
- NP_001394545.1:p.Gly1332Arg
- NP_001394546.1:p.Gly1332Arg
- NP_001394547.1:p.Gly1332Arg
- NP_001394548.1:p.Gly1332Arg
- NP_001394549.1:p.Gly1332Arg
- NP_001394550.1:p.Gly1332Arg
- NP_001394551.1:p.Gly1332Arg
- NP_001394552.1:p.Gly1332Arg
- NP_001394553.1:p.Gly1332Arg
- NP_001394554.1:p.Gly1332Arg
- NP_001394555.1:p.Gly1332Arg
- NP_001394556.1:p.Gly1331Arg
- NP_001394557.1:p.Gly1331Arg
- NP_001394558.1:p.Gly1331Arg
- NP_001394559.1:p.Gly1331Arg
- NP_001394560.1:p.Gly1331Arg
- NP_001394561.1:p.Gly1331Arg
- NP_001394562.1:p.Gly1331Arg
- NP_001394563.1:p.Gly1331Arg
- NP_001394564.1:p.Gly1331Arg
- NP_001394565.1:p.Gly1331Arg
- NP_001394566.1:p.Gly1331Arg
- NP_001394567.1:p.Gly1331Arg
- NP_001394568.1:p.Gly1332Arg
- NP_001394569.1:p.Gly1332Arg
- NP_001394570.1:p.Gly1332Arg
- NP_001394571.1:p.Gly1332Arg
- NP_001394573.1:p.Gly1331Arg
- NP_001394574.1:p.Gly1331Arg
- NP_001394575.1:p.Gly1329Arg
- NP_001394576.1:p.Gly1329Arg
- NP_001394577.1:p.Gly1291Arg
- NP_001394578.1:p.Gly1290Arg
- NP_001394581.1:p.Gly1332Arg
- NP_001394582.1:p.Gly1306Arg
- NP_001394583.1:p.Gly1306Arg
- NP_001394584.1:p.Gly1306Arg
- NP_001394585.1:p.Gly1306Arg
- NP_001394586.1:p.Gly1306Arg
- NP_001394587.1:p.Gly1306Arg
- NP_001394588.1:p.Gly1305Arg
- NP_001394589.1:p.Gly1305Arg
- NP_001394590.1:p.Gly1305Arg
- NP_001394591.1:p.Gly1305Arg
- NP_001394592.1:p.Gly1306Arg
- NP_001394593.1:p.Gly1291Arg
- NP_001394594.1:p.Gly1291Arg
- NP_001394595.1:p.Gly1291Arg
- NP_001394596.1:p.Gly1291Arg
- NP_001394597.1:p.Gly1291Arg
- NP_001394598.1:p.Gly1291Arg
- NP_001394599.1:p.Gly1290Arg
- NP_001394600.1:p.Gly1290Arg
- NP_001394601.1:p.Gly1290Arg
- NP_001394602.1:p.Gly1290Arg
- NP_001394603.1:p.Gly1291Arg
- NP_001394604.1:p.Gly1291Arg
- NP_001394605.1:p.Gly1291Arg
- NP_001394606.1:p.Gly1291Arg
- NP_001394607.1:p.Gly1291Arg
- NP_001394608.1:p.Gly1291Arg
- NP_001394609.1:p.Gly1291Arg
- NP_001394610.1:p.Gly1291Arg
- NP_001394611.1:p.Gly1291Arg
- NP_001394612.1:p.Gly1291Arg
- NP_001394613.1:p.Gly1332Arg
- NP_001394614.1:p.Gly1290Arg
- NP_001394615.1:p.Gly1290Arg
- NP_001394616.1:p.Gly1290Arg
- NP_001394617.1:p.Gly1290Arg
- NP_001394618.1:p.Gly1290Arg
- NP_001394619.1:p.Gly1290Arg
- NP_001394620.1:p.Gly1290Arg
- NP_001394621.1:p.Gly1285Arg
- NP_001394623.1:p.Gly1285Arg
- NP_001394624.1:p.Gly1285Arg
- NP_001394625.1:p.Gly1285Arg
- NP_001394626.1:p.Gly1285Arg
- NP_001394627.1:p.Gly1285Arg
- NP_001394653.1:p.Gly1285Arg
- NP_001394654.1:p.Gly1285Arg
- NP_001394655.1:p.Gly1285Arg
- NP_001394656.1:p.Gly1285Arg
- NP_001394657.1:p.Gly1285Arg
- NP_001394658.1:p.Gly1285Arg
- NP_001394659.1:p.Gly1285Arg
- NP_001394660.1:p.Gly1285Arg
- NP_001394661.1:p.Gly1285Arg
- NP_001394662.1:p.Gly1285Arg
- NP_001394663.1:p.Gly1285Arg
- NP_001394664.1:p.Gly1285Arg
- NP_001394665.1:p.Gly1285Arg
- NP_001394666.1:p.Gly1285Arg
- NP_001394667.1:p.Gly1285Arg
- NP_001394668.1:p.Gly1285Arg
- NP_001394669.1:p.Gly1284Arg
- NP_001394670.1:p.Gly1284Arg
- NP_001394671.1:p.Gly1284Arg
- NP_001394672.1:p.Gly1284Arg
- NP_001394673.1:p.Gly1284Arg
- NP_001394674.1:p.Gly1284Arg
- NP_001394675.1:p.Gly1284Arg
- NP_001394676.1:p.Gly1284Arg
- NP_001394677.1:p.Gly1284Arg
- NP_001394678.1:p.Gly1284Arg
- NP_001394679.1:p.Gly1285Arg
- NP_001394680.1:p.Gly1285Arg
- NP_001394681.1:p.Gly1285Arg
- NP_001394767.1:p.Gly1284Arg
- NP_001394768.1:p.Gly1284Arg
- NP_001394770.1:p.Gly1284Arg
- NP_001394771.1:p.Gly1284Arg
- NP_001394772.1:p.Gly1284Arg
- NP_001394773.1:p.Gly1284Arg
- NP_001394774.1:p.Gly1284Arg
- NP_001394775.1:p.Gly1284Arg
- NP_001394776.1:p.Gly1284Arg
- NP_001394777.1:p.Gly1284Arg
- NP_001394778.1:p.Gly1284Arg
- NP_001394779.1:p.Gly1285Arg
- NP_001394780.1:p.Gly1285Arg
- NP_001394781.1:p.Gly1285Arg
- NP_001394782.1:p.Gly1261Arg
- NP_001394783.1:p.Gly1332Arg
- NP_001394787.1:p.Gly1332Arg
- NP_001394788.1:p.Gly1332Arg
- NP_001394789.1:p.Gly1331Arg
- NP_001394790.1:p.Gly1331Arg
- NP_001394791.1:p.Gly1265Arg
- NP_001394792.1:p.Gly1291Arg
- NP_001394803.1:p.Gly1264Arg
- NP_001394804.1:p.Gly1264Arg
- NP_001394808.1:p.Gly1262Arg
- NP_001394810.1:p.Gly1262Arg
- NP_001394811.1:p.Gly1262Arg
- NP_001394813.1:p.Gly1262Arg
- NP_001394814.1:p.Gly1262Arg
- NP_001394815.1:p.Gly1262Arg
- NP_001394816.1:p.Gly1262Arg
- NP_001394818.1:p.Gly1262Arg
- NP_001394823.1:p.Gly1261Arg
- NP_001394824.1:p.Gly1261Arg
- NP_001394825.1:p.Gly1261Arg
- NP_001394826.1:p.Gly1261Arg
- NP_001394827.1:p.Gly1261Arg
- NP_001394828.1:p.Gly1261Arg
- NP_001394829.1:p.Gly1262Arg
- NP_001394831.1:p.Gly1262Arg
- NP_001394833.1:p.Gly1262Arg
- NP_001394835.1:p.Gly1262Arg
- NP_001394836.1:p.Gly1262Arg
- NP_001394837.1:p.Gly1262Arg
- NP_001394838.1:p.Gly1262Arg
- NP_001394839.1:p.Gly1262Arg
- NP_001394844.1:p.Gly1261Arg
- NP_001394845.1:p.Gly1261Arg
- NP_001394846.1:p.Gly1261Arg
- NP_001394847.1:p.Gly1261Arg
- NP_001394848.1:p.Gly1291Arg
- NP_001394849.1:p.Gly1244Arg
- NP_001394850.1:p.Gly1244Arg
- NP_001394851.1:p.Gly1244Arg
- NP_001394852.1:p.Gly1244Arg
- NP_001394853.1:p.Gly1244Arg
- NP_001394854.1:p.Gly1244Arg
- NP_001394855.1:p.Gly1244Arg
- NP_001394856.1:p.Gly1244Arg
- NP_001394857.1:p.Gly1244Arg
- NP_001394858.1:p.Gly1244Arg
- NP_001394859.1:p.Gly1243Arg
- NP_001394860.1:p.Gly1243Arg
- NP_001394861.1:p.Gly1243Arg
- NP_001394862.1:p.Gly1244Arg
- NP_001394863.1:p.Gly1243Arg
- NP_001394864.1:p.Gly1244Arg
- NP_001394865.1:p.Gly1243Arg
- NP_001394866.1:p.Gly1291Arg
- NP_001394867.1:p.Gly1291Arg
- NP_001394868.1:p.Gly1291Arg
- NP_001394869.1:p.Gly1290Arg
- NP_001394870.1:p.Gly1290Arg
- NP_001394871.1:p.Gly1285Arg
- NP_001394872.1:p.Gly1284Arg
- NP_001394873.1:p.Gly1285Arg
- NP_001394874.1:p.Gly1285Arg
- NP_001394875.1:p.Gly1221Arg
- NP_001394876.1:p.Gly1221Arg
- NP_001394877.1:p.Gly1221Arg
- NP_001394878.1:p.Gly1221Arg
- NP_001394879.1:p.Gly1221Arg
- NP_001394880.1:p.Gly1221Arg
- NP_001394881.1:p.Gly1221Arg
- NP_001394882.1:p.Gly1221Arg
- NP_001394883.1:p.Gly1220Arg
- NP_001394884.1:p.Gly1220Arg
- NP_001394885.1:p.Gly1220Arg
- NP_001394886.1:p.Gly1221Arg
- NP_001394887.1:p.Gly1220Arg
- NP_001394888.1:p.Gly1205Arg
- NP_001394889.1:p.Gly1205Arg
- NP_001394891.1:p.Gly1204Arg
- NP_001394892.1:p.Gly1205Arg
- NP_001394893.1:p.Gly1284Arg
- NP_001394894.1:p.Gly1164Arg
- NP_001394895.1:p.Gly1036Arg
- NP_001394896.1:p.Gly1036Arg
- NP_001394897.1:p.Gly464Arg
- NP_001394898.1:p.Gly464Arg
- NP_009225.1:p.Gly1332Arg
- NP_009225.1:p.Gly1332Arg
- NP_009228.2:p.Gly1285Arg
- NP_009231.2:p.Gly1332Arg
- LRG_292t1:c.3994G>C
- LRG_292:g.126447G>C
- LRG_292p1:p.Gly1332Arg
- NC_000017.10:g.41243554C>G
- NM_007294.3:c.3994G>C
- NR_027676.1:n.4130G>C
This HGVS expression did not pass validation- Protein change:
- G1036R
- Links:
- dbSNP: rs2053488210
- NCBI 1000 Genomes Browser:
- rs2053488210
- Molecular consequence:
- NM_001407970.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-514G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-505G>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3985G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3985G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3913G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3913G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3913G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3913G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3916G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3991G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3793G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3790G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3790G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3784G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3781G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.3727G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.3727G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.3727G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.3727G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.3730G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.3727G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3871G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3868G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.3658G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.3658G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.3658G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.3661G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.3658G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.3613G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.3613G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.3610G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.3613G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3850G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3490G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.3106G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.3106G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.1390G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.1390G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3853G>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3994G>C - missense variant - [Sequence Ontology: SO:0001583]
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
-
Chromatium violascens 16S rRNA gene, strain DSM 168T
Chromatium violascens 16S rRNA gene, strain DSM 168Tgi|3927905|emb|AJ224438.1|Nucleotide
-
Sequence 1289 from Patent WO2015059690
Sequence 1289 from Patent WO2015059690gi|1010553540|emb|LP125777.1||pat|W 5059690|1289Nucleotide
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JP 2014003973-A/6: Method of evaluating inhibitory effect on damp-dry malodor
JP 2014003973-A/6: Method of evaluating inhibitory effect on damp-dry malodorgi|618732232|dbj|HW410835.1||pat|JP 003973|6Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001394276 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Uncertain significance (May 29, 2022) | 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
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, SCV001394276.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 950471). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1332 of the BRCA1 protein (p.Gly1332Arg).
# | 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