NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Mar 23, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- 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:
- RCV000131543.16
Allele description [Variation Report for NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)]
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)
- 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.3596C>T (p.Ala1199Val)
- HGVS:
- NC_000017.11:g.43091935G>A
- NG_005905.2:g.126049C>T
- NG_087068.1:g.917G>A
- NM_001407571.1:c.3383C>T
- NM_001407581.1:c.3596C>T
- NM_001407582.1:c.3596C>T
- NM_001407583.1:c.3596C>T
- NM_001407585.1:c.3596C>T
- NM_001407587.1:c.3593C>T
- NM_001407590.1:c.3593C>T
- NM_001407591.1:c.3593C>T
- NM_001407593.1:c.3596C>T
- NM_001407594.1:c.3596C>T
- NM_001407596.1:c.3596C>T
- NM_001407597.1:c.3596C>T
- NM_001407598.1:c.3596C>T
- NM_001407602.1:c.3596C>T
- NM_001407603.1:c.3596C>T
- NM_001407605.1:c.3596C>T
- NM_001407610.1:c.3593C>T
- NM_001407611.1:c.3593C>T
- NM_001407612.1:c.3593C>T
- NM_001407613.1:c.3593C>T
- NM_001407614.1:c.3593C>T
- NM_001407615.1:c.3593C>T
- NM_001407616.1:c.3596C>T
- NM_001407617.1:c.3596C>T
- NM_001407618.1:c.3596C>T
- NM_001407619.1:c.3596C>T
- NM_001407620.1:c.3596C>T
- NM_001407621.1:c.3596C>T
- NM_001407622.1:c.3596C>T
- NM_001407623.1:c.3596C>T
- NM_001407624.1:c.3596C>T
- NM_001407625.1:c.3596C>T
- NM_001407626.1:c.3596C>T
- NM_001407627.1:c.3593C>T
- NM_001407628.1:c.3593C>T
- NM_001407629.1:c.3593C>T
- NM_001407630.1:c.3593C>T
- NM_001407631.1:c.3593C>T
- NM_001407632.1:c.3593C>T
- NM_001407633.1:c.3593C>T
- NM_001407634.1:c.3593C>T
- NM_001407635.1:c.3593C>T
- NM_001407636.1:c.3593C>T
- NM_001407637.1:c.3593C>T
- NM_001407638.1:c.3593C>T
- NM_001407639.1:c.3596C>T
- NM_001407640.1:c.3596C>T
- NM_001407641.1:c.3596C>T
- NM_001407642.1:c.3596C>T
- NM_001407644.1:c.3593C>T
- NM_001407645.1:c.3593C>T
- NM_001407646.1:c.3587C>T
- NM_001407647.1:c.3587C>T
- NM_001407648.1:c.3473C>T
- NM_001407649.1:c.3470C>T
- NM_001407652.1:c.3596C>T
- NM_001407653.1:c.3518C>T
- NM_001407654.1:c.3518C>T
- NM_001407655.1:c.3518C>T
- NM_001407656.1:c.3518C>T
- NM_001407657.1:c.3518C>T
- NM_001407658.1:c.3518C>T
- NM_001407659.1:c.3515C>T
- NM_001407660.1:c.3515C>T
- NM_001407661.1:c.3515C>T
- NM_001407662.1:c.3515C>T
- NM_001407663.1:c.3518C>T
- NM_001407664.1:c.3473C>T
- NM_001407665.1:c.3473C>T
- NM_001407666.1:c.3473C>T
- NM_001407667.1:c.3473C>T
- NM_001407668.1:c.3473C>T
- NM_001407669.1:c.3473C>T
- NM_001407670.1:c.3470C>T
- NM_001407671.1:c.3470C>T
- NM_001407672.1:c.3470C>T
- NM_001407673.1:c.3470C>T
- NM_001407674.1:c.3473C>T
- NM_001407675.1:c.3473C>T
- NM_001407676.1:c.3473C>T
- NM_001407677.1:c.3473C>T
- NM_001407678.1:c.3473C>T
- NM_001407679.1:c.3473C>T
- NM_001407680.1:c.3473C>T
- NM_001407681.1:c.3473C>T
- NM_001407682.1:c.3473C>T
- NM_001407683.1:c.3473C>T
- NM_001407684.1:c.3596C>T
- NM_001407685.1:c.3470C>T
- NM_001407686.1:c.3470C>T
- NM_001407687.1:c.3470C>T
- NM_001407688.1:c.3470C>T
- NM_001407689.1:c.3470C>T
- NM_001407690.1:c.3470C>T
- NM_001407691.1:c.3470C>T
- NM_001407692.1:c.3455C>T
- NM_001407694.1:c.3455C>T
- NM_001407695.1:c.3455C>T
- NM_001407696.1:c.3455C>T
- NM_001407697.1:c.3455C>T
- NM_001407698.1:c.3455C>T
- NM_001407724.1:c.3455C>T
- NM_001407725.1:c.3455C>T
- NM_001407726.1:c.3455C>T
- NM_001407727.1:c.3455C>T
- NM_001407728.1:c.3455C>T
- NM_001407729.1:c.3455C>T
- NM_001407730.1:c.3455C>T
- NM_001407731.1:c.3455C>T
- NM_001407732.1:c.3455C>T
- NM_001407733.1:c.3455C>T
- NM_001407734.1:c.3455C>T
- NM_001407735.1:c.3455C>T
- NM_001407736.1:c.3455C>T
- NM_001407737.1:c.3455C>T
- NM_001407738.1:c.3455C>T
- NM_001407739.1:c.3455C>T
- NM_001407740.1:c.3452C>T
- NM_001407741.1:c.3452C>T
- NM_001407742.1:c.3452C>T
- NM_001407743.1:c.3452C>T
- NM_001407744.1:c.3452C>T
- NM_001407745.1:c.3452C>T
- NM_001407746.1:c.3452C>T
- NM_001407747.1:c.3452C>T
- NM_001407748.1:c.3452C>T
- NM_001407749.1:c.3452C>T
- NM_001407750.1:c.3455C>T
- NM_001407751.1:c.3455C>T
- NM_001407752.1:c.3455C>T
- NM_001407838.1:c.3452C>T
- NM_001407839.1:c.3452C>T
- NM_001407841.1:c.3452C>T
- NM_001407842.1:c.3452C>T
- NM_001407843.1:c.3452C>T
- NM_001407844.1:c.3452C>T
- NM_001407845.1:c.3452C>T
- NM_001407846.1:c.3452C>T
- NM_001407847.1:c.3452C>T
- NM_001407848.1:c.3452C>T
- NM_001407849.1:c.3452C>T
- NM_001407850.1:c.3455C>T
- NM_001407851.1:c.3455C>T
- NM_001407852.1:c.3455C>T
- NM_001407853.1:c.3383C>T
- NM_001407854.1:c.3596C>T
- NM_001407858.1:c.3596C>T
- NM_001407859.1:c.3596C>T
- NM_001407860.1:c.3593C>T
- NM_001407861.1:c.3593C>T
- NM_001407862.1:c.3395C>T
- NM_001407863.1:c.3473C>T
- NM_001407874.1:c.3392C>T
- NM_001407875.1:c.3392C>T
- NM_001407879.1:c.3386C>T
- NM_001407881.1:c.3386C>T
- NM_001407882.1:c.3386C>T
- NM_001407884.1:c.3386C>T
- NM_001407885.1:c.3386C>T
- NM_001407886.1:c.3386C>T
- NM_001407887.1:c.3386C>T
- NM_001407889.1:c.3386C>T
- NM_001407894.1:c.3383C>T
- NM_001407895.1:c.3383C>T
- NM_001407896.1:c.3383C>T
- NM_001407897.1:c.3383C>T
- NM_001407898.1:c.3383C>T
- NM_001407899.1:c.3383C>T
- NM_001407900.1:c.3386C>T
- NM_001407902.1:c.3386C>T
- NM_001407904.1:c.3386C>T
- NM_001407906.1:c.3386C>T
- NM_001407907.1:c.3386C>T
- NM_001407908.1:c.3386C>T
- NM_001407909.1:c.3386C>T
- NM_001407910.1:c.3386C>T
- NM_001407915.1:c.3383C>T
- NM_001407916.1:c.3383C>T
- NM_001407917.1:c.3383C>T
- NM_001407918.1:c.3383C>T
- NM_001407919.1:c.3473C>T
- NM_001407920.1:c.3332C>T
- NM_001407921.1:c.3332C>T
- NM_001407922.1:c.3332C>T
- NM_001407923.1:c.3332C>T
- NM_001407924.1:c.3332C>T
- NM_001407925.1:c.3332C>T
- NM_001407926.1:c.3332C>T
- NM_001407927.1:c.3332C>T
- NM_001407928.1:c.3332C>T
- NM_001407929.1:c.3332C>T
- NM_001407930.1:c.3329C>T
- NM_001407931.1:c.3329C>T
- NM_001407932.1:c.3329C>T
- NM_001407933.1:c.3332C>T
- NM_001407934.1:c.3329C>T
- NM_001407935.1:c.3332C>T
- NM_001407936.1:c.3329C>T
- NM_001407937.1:c.3473C>T
- NM_001407938.1:c.3473C>T
- NM_001407939.1:c.3473C>T
- NM_001407940.1:c.3470C>T
- NM_001407941.1:c.3470C>T
- NM_001407942.1:c.3455C>T
- NM_001407943.1:c.3452C>T
- NM_001407944.1:c.3455C>T
- NM_001407945.1:c.3455C>T
- NM_001407946.1:c.3263C>T
- NM_001407947.1:c.3263C>T
- NM_001407948.1:c.3263C>T
- NM_001407949.1:c.3263C>T
- NM_001407950.1:c.3263C>T
- NM_001407951.1:c.3263C>T
- NM_001407952.1:c.3263C>T
- NM_001407953.1:c.3263C>T
- NM_001407954.1:c.3260C>T
- NM_001407955.1:c.3260C>T
- NM_001407956.1:c.3260C>T
- NM_001407957.1:c.3263C>T
- NM_001407958.1:c.3260C>T
- NM_001407959.1:c.3215C>T
- NM_001407960.1:c.3215C>T
- NM_001407962.1:c.3212C>T
- NM_001407963.1:c.3215C>T
- NM_001407964.1:c.3452C>T
- NM_001407965.1:c.3092C>T
- NM_001407966.1:c.2708C>T
- NM_001407967.1:c.2708C>T
- NM_001407968.1:c.992C>T
- NM_001407969.1:c.992C>T
- NM_001407970.1:c.788-903C>T
- NM_001407971.1:c.788-903C>T
- NM_001407972.1:c.785-903C>T
- NM_001407973.1:c.788-903C>T
- NM_001407974.1:c.788-903C>T
- NM_001407975.1:c.788-903C>T
- NM_001407976.1:c.788-903C>T
- NM_001407977.1:c.788-903C>T
- NM_001407978.1:c.788-903C>T
- NM_001407979.1:c.788-903C>T
- NM_001407980.1:c.788-903C>T
- NM_001407981.1:c.788-903C>T
- NM_001407982.1:c.788-903C>T
- NM_001407983.1:c.788-903C>T
- NM_001407984.1:c.785-903C>T
- NM_001407985.1:c.785-903C>T
- NM_001407986.1:c.785-903C>T
- NM_001407990.1:c.788-903C>T
- NM_001407991.1:c.785-903C>T
- NM_001407992.1:c.785-903C>T
- NM_001407993.1:c.788-903C>T
- NM_001408392.1:c.785-903C>T
- NM_001408396.1:c.785-903C>T
- NM_001408397.1:c.785-903C>T
- NM_001408398.1:c.785-903C>T
- NM_001408399.1:c.785-903C>T
- NM_001408400.1:c.785-903C>T
- NM_001408401.1:c.785-903C>T
- NM_001408402.1:c.785-903C>T
- NM_001408403.1:c.788-903C>T
- NM_001408404.1:c.788-903C>T
- NM_001408406.1:c.791-912C>T
- NM_001408407.1:c.785-903C>T
- NM_001408408.1:c.779-903C>T
- NM_001408409.1:c.710-903C>T
- NM_001408410.1:c.647-903C>T
- NM_001408411.1:c.710-903C>T
- NM_001408412.1:c.710-903C>T
- NM_001408413.1:c.707-903C>T
- NM_001408414.1:c.710-903C>T
- NM_001408415.1:c.710-903C>T
- NM_001408416.1:c.707-903C>T
- NM_001408418.1:c.671-903C>T
- NM_001408419.1:c.671-903C>T
- NM_001408420.1:c.671-903C>T
- NM_001408421.1:c.668-903C>T
- NM_001408422.1:c.671-903C>T
- NM_001408423.1:c.671-903C>T
- NM_001408424.1:c.668-903C>T
- NM_001408425.1:c.665-903C>T
- NM_001408426.1:c.665-903C>T
- NM_001408427.1:c.665-903C>T
- NM_001408428.1:c.665-903C>T
- NM_001408429.1:c.665-903C>T
- NM_001408430.1:c.665-903C>T
- NM_001408431.1:c.668-903C>T
- NM_001408432.1:c.662-903C>T
- NM_001408433.1:c.662-903C>T
- NM_001408434.1:c.662-903C>T
- NM_001408435.1:c.662-903C>T
- NM_001408436.1:c.665-903C>T
- NM_001408437.1:c.665-903C>T
- NM_001408438.1:c.665-903C>T
- NM_001408439.1:c.665-903C>T
- NM_001408440.1:c.665-903C>T
- NM_001408441.1:c.665-903C>T
- NM_001408442.1:c.665-903C>T
- NM_001408443.1:c.665-903C>T
- NM_001408444.1:c.665-903C>T
- NM_001408445.1:c.662-903C>T
- NM_001408446.1:c.662-903C>T
- NM_001408447.1:c.662-903C>T
- NM_001408448.1:c.662-903C>T
- NM_001408450.1:c.662-903C>T
- NM_001408451.1:c.653-903C>T
- NM_001408452.1:c.647-903C>T
- NM_001408453.1:c.647-903C>T
- NM_001408454.1:c.647-903C>T
- NM_001408455.1:c.647-903C>T
- NM_001408456.1:c.647-903C>T
- NM_001408457.1:c.647-903C>T
- NM_001408458.1:c.647-903C>T
- NM_001408459.1:c.647-903C>T
- NM_001408460.1:c.647-903C>T
- NM_001408461.1:c.647-903C>T
- NM_001408462.1:c.644-903C>T
- NM_001408463.1:c.644-903C>T
- NM_001408464.1:c.644-903C>T
- NM_001408465.1:c.644-903C>T
- NM_001408466.1:c.647-903C>T
- NM_001408467.1:c.647-903C>T
- NM_001408468.1:c.644-903C>T
- NM_001408469.1:c.647-903C>T
- NM_001408470.1:c.644-903C>T
- NM_001408472.1:c.788-903C>T
- NM_001408473.1:c.785-903C>T
- NM_001408474.1:c.587-903C>T
- NM_001408475.1:c.584-903C>T
- NM_001408476.1:c.587-903C>T
- NM_001408478.1:c.578-903C>T
- NM_001408479.1:c.578-903C>T
- NM_001408480.1:c.578-903C>T
- NM_001408481.1:c.578-903C>T
- NM_001408482.1:c.578-903C>T
- NM_001408483.1:c.578-903C>T
- NM_001408484.1:c.578-903C>T
- NM_001408485.1:c.578-903C>T
- NM_001408489.1:c.578-903C>T
- NM_001408490.1:c.575-903C>T
- NM_001408491.1:c.575-903C>T
- NM_001408492.1:c.578-903C>T
- NM_001408493.1:c.575-903C>T
- NM_001408494.1:c.548-903C>T
- NM_001408495.1:c.545-903C>T
- NM_001408496.1:c.524-903C>T
- NM_001408497.1:c.524-903C>T
- NM_001408498.1:c.524-903C>T
- NM_001408499.1:c.524-903C>T
- NM_001408500.1:c.524-903C>T
- NM_001408501.1:c.524-903C>T
- NM_001408502.1:c.455-903C>T
- NM_001408503.1:c.521-903C>T
- NM_001408504.1:c.521-903C>T
- NM_001408505.1:c.521-903C>T
- NM_001408506.1:c.461-903C>T
- NM_001408507.1:c.461-903C>T
- NM_001408508.1:c.452-903C>T
- NM_001408509.1:c.452-903C>T
- NM_001408510.1:c.407-903C>T
- NM_001408511.1:c.404-903C>T
- NM_001408512.1:c.284-903C>T
- NM_001408513.1:c.578-903C>T
- NM_001408514.1:c.578-903C>T
- NM_007294.4:c.3596C>TMANE SELECT
- NM_007297.4:c.3455C>T
- NM_007298.4:c.788-903C>T
- NM_007299.4:c.788-903C>T
- NM_007300.4:c.3596C>T
- NP_001394500.1:p.Ala1128Val
- NP_001394510.1:p.Ala1199Val
- NP_001394511.1:p.Ala1199Val
- NP_001394512.1:p.Ala1199Val
- NP_001394514.1:p.Ala1199Val
- NP_001394516.1:p.Ala1198Val
- NP_001394519.1:p.Ala1198Val
- NP_001394520.1:p.Ala1198Val
- NP_001394522.1:p.Ala1199Val
- NP_001394523.1:p.Ala1199Val
- NP_001394525.1:p.Ala1199Val
- NP_001394526.1:p.Ala1199Val
- NP_001394527.1:p.Ala1199Val
- NP_001394531.1:p.Ala1199Val
- NP_001394532.1:p.Ala1199Val
- NP_001394534.1:p.Ala1199Val
- NP_001394539.1:p.Ala1198Val
- NP_001394540.1:p.Ala1198Val
- NP_001394541.1:p.Ala1198Val
- NP_001394542.1:p.Ala1198Val
- NP_001394543.1:p.Ala1198Val
- NP_001394544.1:p.Ala1198Val
- NP_001394545.1:p.Ala1199Val
- NP_001394546.1:p.Ala1199Val
- NP_001394547.1:p.Ala1199Val
- NP_001394548.1:p.Ala1199Val
- NP_001394549.1:p.Ala1199Val
- NP_001394550.1:p.Ala1199Val
- NP_001394551.1:p.Ala1199Val
- NP_001394552.1:p.Ala1199Val
- NP_001394553.1:p.Ala1199Val
- NP_001394554.1:p.Ala1199Val
- NP_001394555.1:p.Ala1199Val
- NP_001394556.1:p.Ala1198Val
- NP_001394557.1:p.Ala1198Val
- NP_001394558.1:p.Ala1198Val
- NP_001394559.1:p.Ala1198Val
- NP_001394560.1:p.Ala1198Val
- NP_001394561.1:p.Ala1198Val
- NP_001394562.1:p.Ala1198Val
- NP_001394563.1:p.Ala1198Val
- NP_001394564.1:p.Ala1198Val
- NP_001394565.1:p.Ala1198Val
- NP_001394566.1:p.Ala1198Val
- NP_001394567.1:p.Ala1198Val
- NP_001394568.1:p.Ala1199Val
- NP_001394569.1:p.Ala1199Val
- NP_001394570.1:p.Ala1199Val
- NP_001394571.1:p.Ala1199Val
- NP_001394573.1:p.Ala1198Val
- NP_001394574.1:p.Ala1198Val
- NP_001394575.1:p.Ala1196Val
- NP_001394576.1:p.Ala1196Val
- NP_001394577.1:p.Ala1158Val
- NP_001394578.1:p.Ala1157Val
- NP_001394581.1:p.Ala1199Val
- NP_001394582.1:p.Ala1173Val
- NP_001394583.1:p.Ala1173Val
- NP_001394584.1:p.Ala1173Val
- NP_001394585.1:p.Ala1173Val
- NP_001394586.1:p.Ala1173Val
- NP_001394587.1:p.Ala1173Val
- NP_001394588.1:p.Ala1172Val
- NP_001394589.1:p.Ala1172Val
- NP_001394590.1:p.Ala1172Val
- NP_001394591.1:p.Ala1172Val
- NP_001394592.1:p.Ala1173Val
- NP_001394593.1:p.Ala1158Val
- NP_001394594.1:p.Ala1158Val
- NP_001394595.1:p.Ala1158Val
- NP_001394596.1:p.Ala1158Val
- NP_001394597.1:p.Ala1158Val
- NP_001394598.1:p.Ala1158Val
- NP_001394599.1:p.Ala1157Val
- NP_001394600.1:p.Ala1157Val
- NP_001394601.1:p.Ala1157Val
- NP_001394602.1:p.Ala1157Val
- NP_001394603.1:p.Ala1158Val
- NP_001394604.1:p.Ala1158Val
- NP_001394605.1:p.Ala1158Val
- NP_001394606.1:p.Ala1158Val
- NP_001394607.1:p.Ala1158Val
- NP_001394608.1:p.Ala1158Val
- NP_001394609.1:p.Ala1158Val
- NP_001394610.1:p.Ala1158Val
- NP_001394611.1:p.Ala1158Val
- NP_001394612.1:p.Ala1158Val
- NP_001394613.1:p.Ala1199Val
- NP_001394614.1:p.Ala1157Val
- NP_001394615.1:p.Ala1157Val
- NP_001394616.1:p.Ala1157Val
- NP_001394617.1:p.Ala1157Val
- NP_001394618.1:p.Ala1157Val
- NP_001394619.1:p.Ala1157Val
- NP_001394620.1:p.Ala1157Val
- NP_001394621.1:p.Ala1152Val
- NP_001394623.1:p.Ala1152Val
- NP_001394624.1:p.Ala1152Val
- NP_001394625.1:p.Ala1152Val
- NP_001394626.1:p.Ala1152Val
- NP_001394627.1:p.Ala1152Val
- NP_001394653.1:p.Ala1152Val
- NP_001394654.1:p.Ala1152Val
- NP_001394655.1:p.Ala1152Val
- NP_001394656.1:p.Ala1152Val
- NP_001394657.1:p.Ala1152Val
- NP_001394658.1:p.Ala1152Val
- NP_001394659.1:p.Ala1152Val
- NP_001394660.1:p.Ala1152Val
- NP_001394661.1:p.Ala1152Val
- NP_001394662.1:p.Ala1152Val
- NP_001394663.1:p.Ala1152Val
- NP_001394664.1:p.Ala1152Val
- NP_001394665.1:p.Ala1152Val
- NP_001394666.1:p.Ala1152Val
- NP_001394667.1:p.Ala1152Val
- NP_001394668.1:p.Ala1152Val
- NP_001394669.1:p.Ala1151Val
- NP_001394670.1:p.Ala1151Val
- NP_001394671.1:p.Ala1151Val
- NP_001394672.1:p.Ala1151Val
- NP_001394673.1:p.Ala1151Val
- NP_001394674.1:p.Ala1151Val
- NP_001394675.1:p.Ala1151Val
- NP_001394676.1:p.Ala1151Val
- NP_001394677.1:p.Ala1151Val
- NP_001394678.1:p.Ala1151Val
- NP_001394679.1:p.Ala1152Val
- NP_001394680.1:p.Ala1152Val
- NP_001394681.1:p.Ala1152Val
- NP_001394767.1:p.Ala1151Val
- NP_001394768.1:p.Ala1151Val
- NP_001394770.1:p.Ala1151Val
- NP_001394771.1:p.Ala1151Val
- NP_001394772.1:p.Ala1151Val
- NP_001394773.1:p.Ala1151Val
- NP_001394774.1:p.Ala1151Val
- NP_001394775.1:p.Ala1151Val
- NP_001394776.1:p.Ala1151Val
- NP_001394777.1:p.Ala1151Val
- NP_001394778.1:p.Ala1151Val
- NP_001394779.1:p.Ala1152Val
- NP_001394780.1:p.Ala1152Val
- NP_001394781.1:p.Ala1152Val
- NP_001394782.1:p.Ala1128Val
- NP_001394783.1:p.Ala1199Val
- NP_001394787.1:p.Ala1199Val
- NP_001394788.1:p.Ala1199Val
- NP_001394789.1:p.Ala1198Val
- NP_001394790.1:p.Ala1198Val
- NP_001394791.1:p.Ala1132Val
- NP_001394792.1:p.Ala1158Val
- NP_001394803.1:p.Ala1131Val
- NP_001394804.1:p.Ala1131Val
- NP_001394808.1:p.Ala1129Val
- NP_001394810.1:p.Ala1129Val
- NP_001394811.1:p.Ala1129Val
- NP_001394813.1:p.Ala1129Val
- NP_001394814.1:p.Ala1129Val
- NP_001394815.1:p.Ala1129Val
- NP_001394816.1:p.Ala1129Val
- NP_001394818.1:p.Ala1129Val
- NP_001394823.1:p.Ala1128Val
- NP_001394824.1:p.Ala1128Val
- NP_001394825.1:p.Ala1128Val
- NP_001394826.1:p.Ala1128Val
- NP_001394827.1:p.Ala1128Val
- NP_001394828.1:p.Ala1128Val
- NP_001394829.1:p.Ala1129Val
- NP_001394831.1:p.Ala1129Val
- NP_001394833.1:p.Ala1129Val
- NP_001394835.1:p.Ala1129Val
- NP_001394836.1:p.Ala1129Val
- NP_001394837.1:p.Ala1129Val
- NP_001394838.1:p.Ala1129Val
- NP_001394839.1:p.Ala1129Val
- NP_001394844.1:p.Ala1128Val
- NP_001394845.1:p.Ala1128Val
- NP_001394846.1:p.Ala1128Val
- NP_001394847.1:p.Ala1128Val
- NP_001394848.1:p.Ala1158Val
- NP_001394849.1:p.Ala1111Val
- NP_001394850.1:p.Ala1111Val
- NP_001394851.1:p.Ala1111Val
- NP_001394852.1:p.Ala1111Val
- NP_001394853.1:p.Ala1111Val
- NP_001394854.1:p.Ala1111Val
- NP_001394855.1:p.Ala1111Val
- NP_001394856.1:p.Ala1111Val
- NP_001394857.1:p.Ala1111Val
- NP_001394858.1:p.Ala1111Val
- NP_001394859.1:p.Ala1110Val
- NP_001394860.1:p.Ala1110Val
- NP_001394861.1:p.Ala1110Val
- NP_001394862.1:p.Ala1111Val
- NP_001394863.1:p.Ala1110Val
- NP_001394864.1:p.Ala1111Val
- NP_001394865.1:p.Ala1110Val
- NP_001394866.1:p.Ala1158Val
- NP_001394867.1:p.Ala1158Val
- NP_001394868.1:p.Ala1158Val
- NP_001394869.1:p.Ala1157Val
- NP_001394870.1:p.Ala1157Val
- NP_001394871.1:p.Ala1152Val
- NP_001394872.1:p.Ala1151Val
- NP_001394873.1:p.Ala1152Val
- NP_001394874.1:p.Ala1152Val
- NP_001394875.1:p.Ala1088Val
- NP_001394876.1:p.Ala1088Val
- NP_001394877.1:p.Ala1088Val
- NP_001394878.1:p.Ala1088Val
- NP_001394879.1:p.Ala1088Val
- NP_001394880.1:p.Ala1088Val
- NP_001394881.1:p.Ala1088Val
- NP_001394882.1:p.Ala1088Val
- NP_001394883.1:p.Ala1087Val
- NP_001394884.1:p.Ala1087Val
- NP_001394885.1:p.Ala1087Val
- NP_001394886.1:p.Ala1088Val
- NP_001394887.1:p.Ala1087Val
- NP_001394888.1:p.Ala1072Val
- NP_001394889.1:p.Ala1072Val
- NP_001394891.1:p.Ala1071Val
- NP_001394892.1:p.Ala1072Val
- NP_001394893.1:p.Ala1151Val
- NP_001394894.1:p.Ala1031Val
- NP_001394895.1:p.Ala903Val
- NP_001394896.1:p.Ala903Val
- NP_001394897.1:p.Ala331Val
- NP_001394898.1:p.Ala331Val
- NP_009225.1:p.Ala1199Val
- NP_009225.1:p.Ala1199Val
- NP_009228.2:p.Ala1152Val
- NP_009231.2:p.Ala1199Val
- LRG_292t1:c.3596C>T
- LRG_292:g.126049C>T
- LRG_292p1:p.Ala1199Val
- NC_000017.10:g.41243952G>A
- NM_007294.2:c.3596C>T
- NM_007294.3:c.3596C>T
- NR_027676.1:n.3732C>T
- p.A1199V
This HGVS expression did not pass validation- Protein change:
- A1031V
- Links:
- dbSNP: rs587782458
- NCBI 1000 Genomes Browser:
- rs587782458
- Molecular consequence:
- NM_001407970.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-912C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3587C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3587C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3395C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3392C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3392C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.3212C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.3092C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2708C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2708C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
- Observations:
- 1
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 |
---|---|---|---|---|---|---|
SCV000186542 | Ambry Genetics | criteria provided, single submitter (Ambry General Variant Classification Scheme_2022) | Likely benign (May 27, 2017) | germline | clinical testing | |
SCV000911050 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely benign (Jan 13, 2017) | germline | clinical testing | |
SCV003848281 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Dines et al. (Genet Med. 2020)) | Likely benign (Mar 23, 2023) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | 1 | not provided | not provided | 1 | not provided | clinical testing, curation |
Citations
PubMed
BRCA1 and BRCA2 mutations in women from Shanghai China.
Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC, Thomas DB, Ostrander EA.
Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):181-9.
- PMID:
- 14973102
Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.
Carney ME, Basiliere MS, Mates K, Sing CK.
Hawaii Med J. 2010 Nov;69(11):268-71.
- PMID:
- 21218378
- PMCID:
- PMC3071188
Details of each submission
From Ambry Genetics, SCV000186542.6
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (2) |
Description
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 1 | not provided | not provided | 1 | not provided | not provided | not provided |
From Color Diagnostics, LLC DBA Color Health, SCV000911050.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 |
From University of Washington Department of Laboratory Medicine, University of Washington, SCV003848281.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
# | 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: Apr 15, 2024