NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 9, 2021
- 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:
- RCV000570823.7
Allele description [Variation Report for NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)]
NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)
- Other names:
- 4344C>T
- HGVS:
- NC_000017.11:g.43082536G>A
- NG_005905.2:g.135448C>T
- NM_001407571.1:c.4012C>T
- NM_001407581.1:c.4225C>T
- NM_001407582.1:c.4225C>T
- NM_001407583.1:c.4225C>T
- NM_001407585.1:c.4225C>T
- NM_001407587.1:c.4222C>T
- NM_001407590.1:c.4222C>T
- NM_001407591.1:c.4222C>T
- NM_001407593.1:c.4225C>T
- NM_001407594.1:c.4225C>T
- NM_001407596.1:c.4225C>T
- NM_001407597.1:c.4225C>T
- NM_001407598.1:c.4225C>T
- NM_001407602.1:c.4225C>T
- NM_001407603.1:c.4225C>T
- NM_001407605.1:c.4225C>T
- NM_001407610.1:c.4222C>T
- NM_001407611.1:c.4222C>T
- NM_001407612.1:c.4222C>T
- NM_001407613.1:c.4222C>T
- NM_001407614.1:c.4222C>T
- NM_001407615.1:c.4222C>T
- NM_001407616.1:c.4225C>T
- NM_001407617.1:c.4225C>T
- NM_001407618.1:c.4225C>T
- NM_001407619.1:c.4225C>T
- NM_001407620.1:c.4225C>T
- NM_001407621.1:c.4225C>T
- NM_001407622.1:c.4225C>T
- NM_001407623.1:c.4225C>T
- NM_001407624.1:c.4222C>T
- NM_001407625.1:c.4222C>T
- NM_001407626.1:c.4222C>T
- NM_001407627.1:c.4219C>T
- NM_001407628.1:c.4219C>T
- NM_001407629.1:c.4219C>T
- NM_001407630.1:c.4219C>T
- NM_001407631.1:c.4219C>T
- NM_001407632.1:c.4219C>T
- NM_001407633.1:c.4222C>T
- NM_001407634.1:c.4222C>T
- NM_001407635.1:c.4222C>T
- NM_001407636.1:c.4222C>T
- NM_001407637.1:c.4222C>T
- NM_001407638.1:c.4222C>T
- NM_001407639.1:c.4222C>T
- NM_001407640.1:c.4222C>T
- NM_001407641.1:c.4222C>T
- NM_001407642.1:c.4222C>T
- NM_001407644.1:c.4219C>T
- NM_001407645.1:c.4219C>T
- NM_001407646.1:c.4213C>T
- NM_001407647.1:c.4213C>T
- NM_001407648.1:c.4102C>T
- NM_001407649.1:c.4099C>T
- NM_001407652.1:c.4225C>T
- NM_001407653.1:c.4147C>T
- NM_001407654.1:c.4147C>T
- NM_001407655.1:c.4147C>T
- NM_001407656.1:c.4144C>T
- NM_001407657.1:c.4147C>T
- NM_001407658.1:c.4147C>T
- NM_001407659.1:c.4141C>T
- NM_001407660.1:c.4141C>T
- NM_001407661.1:c.4144C>T
- NM_001407662.1:c.4144C>T
- NM_001407663.1:c.4144C>T
- NM_001407664.1:c.4102C>T
- NM_001407665.1:c.4102C>T
- NM_001407666.1:c.4102C>T
- NM_001407667.1:c.4102C>T
- NM_001407668.1:c.4102C>T
- NM_001407669.1:c.4102C>T
- NM_001407670.1:c.4099C>T
- NM_001407671.1:c.4099C>T
- NM_001407672.1:c.4099C>T
- NM_001407673.1:c.4099C>T
- NM_001407674.1:c.4099C>T
- NM_001407675.1:c.4099C>T
- NM_001407676.1:c.4099C>T
- NM_001407677.1:c.4102C>T
- NM_001407678.1:c.4102C>T
- NM_001407679.1:c.4102C>T
- NM_001407680.1:c.4102C>T
- NM_001407681.1:c.4099C>T
- NM_001407682.1:c.4099C>T
- NM_001407683.1:c.4099C>T
- NM_001407684.1:c.4225C>T
- NM_001407685.1:c.4096C>T
- NM_001407686.1:c.4096C>T
- NM_001407687.1:c.4096C>T
- NM_001407688.1:c.4099C>T
- NM_001407689.1:c.4099C>T
- NM_001407690.1:c.4096C>T
- NM_001407691.1:c.4096C>T
- NM_001407692.1:c.4084C>T
- NM_001407694.1:c.4084C>T
- NM_001407695.1:c.4084C>T
- NM_001407696.1:c.4084C>T
- NM_001407697.1:c.4084C>T
- NM_001407698.1:c.4084C>T
- NM_001407724.1:c.4084C>T
- NM_001407725.1:c.4084C>T
- NM_001407726.1:c.4084C>T
- NM_001407727.1:c.4084C>T
- NM_001407728.1:c.4084C>T
- NM_001407729.1:c.4084C>T
- NM_001407730.1:c.4084C>T
- NM_001407731.1:c.4084C>T
- NM_001407732.1:c.4084C>T
- NM_001407733.1:c.4084C>T
- NM_001407734.1:c.4084C>T
- NM_001407735.1:c.4084C>T
- NM_001407736.1:c.4084C>T
- NM_001407737.1:c.4084C>T
- NM_001407738.1:c.4084C>T
- NM_001407739.1:c.4084C>T
- NM_001407740.1:c.4081C>T
- NM_001407741.1:c.4081C>T
- NM_001407742.1:c.4081C>T
- NM_001407743.1:c.4081C>T
- NM_001407744.1:c.4081C>T
- NM_001407745.1:c.4081C>T
- NM_001407746.1:c.4081C>T
- NM_001407747.1:c.4081C>T
- NM_001407748.1:c.4081C>T
- NM_001407749.1:c.4081C>T
- NM_001407750.1:c.4081C>T
- NM_001407751.1:c.4081C>T
- NM_001407752.1:c.4081C>T
- NM_001407838.1:c.4081C>T
- NM_001407839.1:c.4081C>T
- NM_001407841.1:c.4081C>T
- NM_001407842.1:c.4081C>T
- NM_001407843.1:c.4081C>T
- NM_001407844.1:c.4081C>T
- NM_001407845.1:c.4081C>T
- NM_001407846.1:c.4081C>T
- NM_001407847.1:c.4078C>T
- NM_001407848.1:c.4078C>T
- NM_001407849.1:c.4078C>T
- NM_001407850.1:c.4081C>T
- NM_001407851.1:c.4081C>T
- NM_001407852.1:c.4081C>T
- NM_001407853.1:c.4012C>T
- NM_001407854.1:c.4225C>T
- NM_001407858.1:c.4225C>T
- NM_001407859.1:c.4225C>T
- NM_001407860.1:c.4222C>T
- NM_001407861.1:c.4222C>T
- NM_001407862.1:c.4024C>T
- NM_001407863.1:c.4102C>T
- NM_001407874.1:c.4021C>T
- NM_001407875.1:c.4021C>T
- NM_001407879.1:c.4015C>T
- NM_001407881.1:c.4015C>T
- NM_001407882.1:c.4015C>T
- NM_001407884.1:c.4015C>T
- NM_001407885.1:c.4015C>T
- NM_001407886.1:c.4015C>T
- NM_001407887.1:c.4015C>T
- NM_001407889.1:c.4015C>T
- NM_001407894.1:c.4012C>T
- NM_001407895.1:c.4012C>T
- NM_001407896.1:c.4012C>T
- NM_001407897.1:c.4012C>T
- NM_001407898.1:c.4012C>T
- NM_001407899.1:c.4012C>T
- NM_001407900.1:c.4015C>T
- NM_001407902.1:c.4015C>T
- NM_001407904.1:c.4015C>T
- NM_001407906.1:c.4015C>T
- NM_001407907.1:c.4012C>T
- NM_001407908.1:c.4012C>T
- NM_001407909.1:c.4012C>T
- NM_001407910.1:c.4012C>T
- NM_001407915.1:c.4009C>T
- NM_001407916.1:c.4012C>T
- NM_001407917.1:c.4012C>T
- NM_001407918.1:c.4012C>T
- NM_001407919.1:c.4102C>T
- NM_001407920.1:c.3961C>T
- NM_001407921.1:c.3961C>T
- NM_001407922.1:c.3961C>T
- NM_001407923.1:c.3961C>T
- NM_001407924.1:c.3961C>T
- NM_001407925.1:c.3961C>T
- NM_001407926.1:c.3961C>T
- NM_001407927.1:c.3961C>T
- NM_001407928.1:c.3961C>T
- NM_001407929.1:c.3961C>T
- NM_001407930.1:c.3958C>T
- NM_001407931.1:c.3958C>T
- NM_001407932.1:c.3958C>T
- NM_001407933.1:c.3958C>T
- NM_001407934.1:c.3955C>T
- NM_001407935.1:c.3958C>T
- NM_001407936.1:c.3958C>T
- NM_001407937.1:c.4102C>T
- NM_001407938.1:c.4102C>T
- NM_001407939.1:c.4102C>T
- NM_001407940.1:c.4099C>T
- NM_001407941.1:c.4099C>T
- NM_001407942.1:c.4084C>T
- NM_001407943.1:c.4081C>T
- NM_001407944.1:c.4084C>T
- NM_001407945.1:c.4084C>T
- NM_001407946.1:c.3892C>T
- NM_001407947.1:c.3892C>T
- NM_001407948.1:c.3892C>T
- NM_001407949.1:c.3892C>T
- NM_001407950.1:c.3892C>T
- NM_001407951.1:c.3892C>T
- NM_001407952.1:c.3889C>T
- NM_001407953.1:c.3889C>T
- NM_001407954.1:c.3889C>T
- NM_001407955.1:c.3889C>T
- NM_001407956.1:c.3886C>T
- NM_001407957.1:c.3889C>T
- NM_001407958.1:c.3889C>T
- NM_001407959.1:c.3844C>T
- NM_001407960.1:c.3844C>T
- NM_001407962.1:c.3841C>T
- NM_001407963.1:c.3841C>T
- NM_001407964.1:c.4081C>T
- NM_001407965.1:c.3718C>T
- NM_001407966.1:c.3337C>T
- NM_001407967.1:c.3337C>T
- NM_001407968.1:c.1621C>T
- NM_001407969.1:c.1618C>T
- NM_001407970.1:c.916C>T
- NM_001407971.1:c.916C>T
- NM_001407972.1:c.913C>T
- NM_001407973.1:c.916C>T
- NM_001407974.1:c.916C>T
- NM_001407975.1:c.916C>T
- NM_001407976.1:c.916C>T
- NM_001407977.1:c.916C>T
- NM_001407978.1:c.916C>T
- NM_001407979.1:c.913C>T
- NM_001407980.1:c.913C>T
- NM_001407981.1:c.913C>T
- NM_001407982.1:c.913C>T
- NM_001407983.1:c.913C>T
- NM_001407984.1:c.913C>T
- NM_001407985.1:c.913C>T
- NM_001407986.1:c.913C>T
- NM_001407990.1:c.913C>T
- NM_001407991.1:c.913C>T
- NM_001407992.1:c.913C>T
- NM_001407993.1:c.916C>T
- NM_001408392.1:c.913C>T
- NM_001408396.1:c.913C>T
- NM_001408397.1:c.913C>T
- NM_001408398.1:c.913C>T
- NM_001408399.1:c.913C>T
- NM_001408400.1:c.910C>T
- NM_001408401.1:c.910C>T
- NM_001408402.1:c.910C>T
- NM_001408403.1:c.913C>T
- NM_001408404.1:c.913C>T
- NM_001408406.1:c.907C>T
- NM_001408407.1:c.910C>T
- NM_001408408.1:c.907C>T
- NM_001408409.1:c.838C>T
- NM_001408410.1:c.775C>T
- NM_001408411.1:c.838C>T
- NM_001408412.1:c.838C>T
- NM_001408413.1:c.835C>T
- NM_001408414.1:c.838C>T
- NM_001408415.1:c.838C>T
- NM_001408416.1:c.835C>T
- NM_001408418.1:c.799C>T
- NM_001408419.1:c.799C>T
- NM_001408420.1:c.799C>T
- NM_001408421.1:c.796C>T
- NM_001408422.1:c.799C>T
- NM_001408423.1:c.799C>T
- NM_001408424.1:c.796C>T
- NM_001408425.1:c.793C>T
- NM_001408426.1:c.793C>T
- NM_001408427.1:c.793C>T
- NM_001408428.1:c.793C>T
- NM_001408429.1:c.793C>T
- NM_001408430.1:c.793C>T
- NM_001408431.1:c.796C>T
- NM_001408432.1:c.790C>T
- NM_001408433.1:c.790C>T
- NM_001408434.1:c.790C>T
- NM_001408435.1:c.790C>T
- NM_001408436.1:c.793C>T
- NM_001408437.1:c.793C>T
- NM_001408438.1:c.793C>T
- NM_001408439.1:c.793C>T
- NM_001408440.1:c.793C>T
- NM_001408441.1:c.790C>T
- NM_001408442.1:c.790C>T
- NM_001408443.1:c.790C>T
- NM_001408444.1:c.790C>T
- NM_001408445.1:c.790C>T
- NM_001408446.1:c.790C>T
- NM_001408447.1:c.790C>T
- NM_001408448.1:c.790C>T
- NM_001408450.1:c.790C>T
- NM_001408451.1:c.781C>T
- NM_001408452.1:c.775C>T
- NM_001408453.1:c.775C>T
- NM_001408454.1:c.775C>T
- NM_001408455.1:c.775C>T
- NM_001408456.1:c.775C>T
- NM_001408457.1:c.775C>T
- NM_001408458.1:c.775C>T
- NM_001408459.1:c.775C>T
- NM_001408460.1:c.775C>T
- NM_001408461.1:c.775C>T
- NM_001408462.1:c.772C>T
- NM_001408463.1:c.772C>T
- NM_001408464.1:c.772C>T
- NM_001408465.1:c.772C>T
- NM_001408466.1:c.772C>T
- NM_001408467.1:c.772C>T
- NM_001408468.1:c.772C>T
- NM_001408469.1:c.772C>T
- NM_001408470.1:c.769C>T
- NM_001408472.1:c.913C>T
- NM_001408473.1:c.913C>T
- NM_001408474.1:c.715C>T
- NM_001408475.1:c.712C>T
- NM_001408476.1:c.715C>T
- NM_001408478.1:c.706C>T
- NM_001408479.1:c.706C>T
- NM_001408480.1:c.706C>T
- NM_001408481.1:c.706C>T
- NM_001408482.1:c.706C>T
- NM_001408483.1:c.706C>T
- NM_001408484.1:c.706C>T
- NM_001408485.1:c.706C>T
- NM_001408489.1:c.703C>T
- NM_001408490.1:c.703C>T
- NM_001408491.1:c.703C>T
- NM_001408492.1:c.703C>T
- NM_001408493.1:c.703C>T
- NM_001408494.1:c.676C>T
- NM_001408495.1:c.673C>T
- NM_001408496.1:c.652C>T
- NM_001408497.1:c.652C>T
- NM_001408498.1:c.652C>T
- NM_001408499.1:c.652C>T
- NM_001408500.1:c.652C>T
- NM_001408501.1:c.652C>T
- NM_001408502.1:c.583C>T
- NM_001408503.1:c.649C>T
- NM_001408504.1:c.649C>T
- NM_001408505.1:c.649C>T
- NM_001408506.1:c.589C>T
- NM_001408507.1:c.586C>T
- NM_001408508.1:c.577C>T
- NM_001408509.1:c.577C>T
- NM_001408510.1:c.535C>T
- NM_001408511.1:c.532C>T
- NM_001408512.1:c.412C>T
- NM_001408513.1:c.703C>T
- NM_001408514.1:c.706C>T
- NM_007294.4:c.4225C>TMANE SELECT
- NM_007297.4:c.4084C>T
- NM_007298.4:c.916C>T
- NM_007299.4:c.916C>T
- NM_007300.4:c.4225C>T
- NM_007304.2:c.916C>T
- NP_001394500.1:p.Gln1338Ter
- NP_001394510.1:p.Gln1409Ter
- NP_001394511.1:p.Gln1409Ter
- NP_001394512.1:p.Gln1409Ter
- NP_001394514.1:p.Gln1409Ter
- NP_001394516.1:p.Gln1408Ter
- NP_001394519.1:p.Gln1408Ter
- NP_001394520.1:p.Gln1408Ter
- NP_001394522.1:p.Gln1409Ter
- NP_001394523.1:p.Gln1409Ter
- NP_001394525.1:p.Gln1409Ter
- NP_001394526.1:p.Gln1409Ter
- NP_001394527.1:p.Gln1409Ter
- NP_001394531.1:p.Gln1409Ter
- NP_001394532.1:p.Gln1409Ter
- NP_001394534.1:p.Gln1409Ter
- NP_001394539.1:p.Gln1408Ter
- NP_001394540.1:p.Gln1408Ter
- NP_001394541.1:p.Gln1408Ter
- NP_001394542.1:p.Gln1408Ter
- NP_001394543.1:p.Gln1408Ter
- NP_001394544.1:p.Gln1408Ter
- NP_001394545.1:p.Gln1409Ter
- NP_001394546.1:p.Gln1409Ter
- NP_001394547.1:p.Gln1409Ter
- NP_001394548.1:p.Gln1409Ter
- NP_001394549.1:p.Gln1409Ter
- NP_001394550.1:p.Gln1409Ter
- NP_001394551.1:p.Gln1409Ter
- NP_001394552.1:p.Gln1409Ter
- NP_001394553.1:p.Gln1408Ter
- NP_001394554.1:p.Gln1408Ter
- NP_001394555.1:p.Gln1408Ter
- NP_001394556.1:p.Gln1407Ter
- NP_001394557.1:p.Gln1407Ter
- NP_001394558.1:p.Gln1407Ter
- NP_001394559.1:p.Gln1407Ter
- NP_001394560.1:p.Gln1407Ter
- NP_001394561.1:p.Gln1407Ter
- NP_001394562.1:p.Gln1408Ter
- NP_001394563.1:p.Gln1408Ter
- NP_001394564.1:p.Gln1408Ter
- NP_001394565.1:p.Gln1408Ter
- NP_001394566.1:p.Gln1408Ter
- NP_001394567.1:p.Gln1408Ter
- NP_001394568.1:p.Gln1408Ter
- NP_001394569.1:p.Gln1408Ter
- NP_001394570.1:p.Gln1408Ter
- NP_001394571.1:p.Gln1408Ter
- NP_001394573.1:p.Gln1407Ter
- NP_001394574.1:p.Gln1407Ter
- NP_001394575.1:p.Gln1405Ter
- NP_001394576.1:p.Gln1405Ter
- NP_001394577.1:p.Gln1368Ter
- NP_001394578.1:p.Gln1367Ter
- NP_001394581.1:p.Gln1409Ter
- NP_001394582.1:p.Gln1383Ter
- NP_001394583.1:p.Gln1383Ter
- NP_001394584.1:p.Gln1383Ter
- NP_001394585.1:p.Gln1382Ter
- NP_001394586.1:p.Gln1383Ter
- NP_001394587.1:p.Gln1383Ter
- NP_001394588.1:p.Gln1381Ter
- NP_001394589.1:p.Gln1381Ter
- NP_001394590.1:p.Gln1382Ter
- NP_001394591.1:p.Gln1382Ter
- NP_001394592.1:p.Gln1382Ter
- NP_001394593.1:p.Gln1368Ter
- NP_001394594.1:p.Gln1368Ter
- NP_001394595.1:p.Gln1368Ter
- NP_001394596.1:p.Gln1368Ter
- NP_001394597.1:p.Gln1368Ter
- NP_001394598.1:p.Gln1368Ter
- NP_001394599.1:p.Gln1367Ter
- NP_001394600.1:p.Gln1367Ter
- NP_001394601.1:p.Gln1367Ter
- NP_001394602.1:p.Gln1367Ter
- NP_001394603.1:p.Gln1367Ter
- NP_001394604.1:p.Gln1367Ter
- NP_001394605.1:p.Gln1367Ter
- NP_001394606.1:p.Gln1368Ter
- NP_001394607.1:p.Gln1368Ter
- NP_001394608.1:p.Gln1368Ter
- NP_001394609.1:p.Gln1368Ter
- NP_001394610.1:p.Gln1367Ter
- NP_001394611.1:p.Gln1367Ter
- NP_001394612.1:p.Gln1367Ter
- NP_001394613.1:p.Gln1409Ter
- NP_001394614.1:p.Gln1366Ter
- NP_001394615.1:p.Gln1366Ter
- NP_001394616.1:p.Gln1366Ter
- NP_001394617.1:p.Gln1367Ter
- NP_001394618.1:p.Gln1367Ter
- NP_001394619.1:p.Gln1366Ter
- NP_001394620.1:p.Gln1366Ter
- NP_001394621.1:p.Gln1362Ter
- NP_001394623.1:p.Gln1362Ter
- NP_001394624.1:p.Gln1362Ter
- NP_001394625.1:p.Gln1362Ter
- NP_001394626.1:p.Gln1362Ter
- NP_001394627.1:p.Gln1362Ter
- NP_001394653.1:p.Gln1362Ter
- NP_001394654.1:p.Gln1362Ter
- NP_001394655.1:p.Gln1362Ter
- NP_001394656.1:p.Gln1362Ter
- NP_001394657.1:p.Gln1362Ter
- NP_001394658.1:p.Gln1362Ter
- NP_001394659.1:p.Gln1362Ter
- NP_001394660.1:p.Gln1362Ter
- NP_001394661.1:p.Gln1362Ter
- NP_001394662.1:p.Gln1362Ter
- NP_001394663.1:p.Gln1362Ter
- NP_001394664.1:p.Gln1362Ter
- NP_001394665.1:p.Gln1362Ter
- NP_001394666.1:p.Gln1362Ter
- NP_001394667.1:p.Gln1362Ter
- NP_001394668.1:p.Gln1362Ter
- NP_001394669.1:p.Gln1361Ter
- NP_001394670.1:p.Gln1361Ter
- NP_001394671.1:p.Gln1361Ter
- NP_001394672.1:p.Gln1361Ter
- NP_001394673.1:p.Gln1361Ter
- NP_001394674.1:p.Gln1361Ter
- NP_001394675.1:p.Gln1361Ter
- NP_001394676.1:p.Gln1361Ter
- NP_001394677.1:p.Gln1361Ter
- NP_001394678.1:p.Gln1361Ter
- NP_001394679.1:p.Gln1361Ter
- NP_001394680.1:p.Gln1361Ter
- NP_001394681.1:p.Gln1361Ter
- NP_001394767.1:p.Gln1361Ter
- NP_001394768.1:p.Gln1361Ter
- NP_001394770.1:p.Gln1361Ter
- NP_001394771.1:p.Gln1361Ter
- NP_001394772.1:p.Gln1361Ter
- NP_001394773.1:p.Gln1361Ter
- NP_001394774.1:p.Gln1361Ter
- NP_001394775.1:p.Gln1361Ter
- NP_001394776.1:p.Gln1360Ter
- NP_001394777.1:p.Gln1360Ter
- NP_001394778.1:p.Gln1360Ter
- NP_001394779.1:p.Gln1361Ter
- NP_001394780.1:p.Gln1361Ter
- NP_001394781.1:p.Gln1361Ter
- NP_001394782.1:p.Gln1338Ter
- NP_001394783.1:p.Gln1409Ter
- NP_001394787.1:p.Gln1409Ter
- NP_001394788.1:p.Gln1409Ter
- NP_001394789.1:p.Gln1408Ter
- NP_001394790.1:p.Gln1408Ter
- NP_001394791.1:p.Gln1342Ter
- NP_001394792.1:p.Gln1368Ter
- NP_001394803.1:p.Gln1341Ter
- NP_001394804.1:p.Gln1341Ter
- NP_001394808.1:p.Gln1339Ter
- NP_001394810.1:p.Gln1339Ter
- NP_001394811.1:p.Gln1339Ter
- NP_001394813.1:p.Gln1339Ter
- NP_001394814.1:p.Gln1339Ter
- NP_001394815.1:p.Gln1339Ter
- NP_001394816.1:p.Gln1339Ter
- NP_001394818.1:p.Gln1339Ter
- NP_001394823.1:p.Gln1338Ter
- NP_001394824.1:p.Gln1338Ter
- NP_001394825.1:p.Gln1338Ter
- NP_001394826.1:p.Gln1338Ter
- NP_001394827.1:p.Gln1338Ter
- NP_001394828.1:p.Gln1338Ter
- NP_001394829.1:p.Gln1339Ter
- NP_001394831.1:p.Gln1339Ter
- NP_001394833.1:p.Gln1339Ter
- NP_001394835.1:p.Gln1339Ter
- NP_001394836.1:p.Gln1338Ter
- NP_001394837.1:p.Gln1338Ter
- NP_001394838.1:p.Gln1338Ter
- NP_001394839.1:p.Gln1338Ter
- NP_001394844.1:p.Gln1337Ter
- NP_001394845.1:p.Gln1338Ter
- NP_001394846.1:p.Gln1338Ter
- NP_001394847.1:p.Gln1338Ter
- NP_001394848.1:p.Gln1368Ter
- NP_001394849.1:p.Gln1321Ter
- NP_001394850.1:p.Gln1321Ter
- NP_001394851.1:p.Gln1321Ter
- NP_001394852.1:p.Gln1321Ter
- NP_001394853.1:p.Gln1321Ter
- NP_001394854.1:p.Gln1321Ter
- NP_001394855.1:p.Gln1321Ter
- NP_001394856.1:p.Gln1321Ter
- NP_001394857.1:p.Gln1321Ter
- NP_001394858.1:p.Gln1321Ter
- NP_001394859.1:p.Gln1320Ter
- NP_001394860.1:p.Gln1320Ter
- NP_001394861.1:p.Gln1320Ter
- NP_001394862.1:p.Gln1320Ter
- NP_001394863.1:p.Gln1319Ter
- NP_001394864.1:p.Gln1320Ter
- NP_001394865.1:p.Gln1320Ter
- NP_001394866.1:p.Gln1368Ter
- NP_001394867.1:p.Gln1368Ter
- NP_001394868.1:p.Gln1368Ter
- NP_001394869.1:p.Gln1367Ter
- NP_001394870.1:p.Gln1367Ter
- NP_001394871.1:p.Gln1362Ter
- NP_001394872.1:p.Gln1361Ter
- NP_001394873.1:p.Gln1362Ter
- NP_001394874.1:p.Gln1362Ter
- NP_001394875.1:p.Gln1298Ter
- NP_001394876.1:p.Gln1298Ter
- NP_001394877.1:p.Gln1298Ter
- NP_001394878.1:p.Gln1298Ter
- NP_001394879.1:p.Gln1298Ter
- NP_001394880.1:p.Gln1298Ter
- NP_001394881.1:p.Gln1297Ter
- NP_001394882.1:p.Gln1297Ter
- NP_001394883.1:p.Gln1297Ter
- NP_001394884.1:p.Gln1297Ter
- NP_001394885.1:p.Gln1296Ter
- NP_001394886.1:p.Gln1297Ter
- NP_001394887.1:p.Gln1297Ter
- NP_001394888.1:p.Gln1282Ter
- NP_001394889.1:p.Gln1282Ter
- NP_001394891.1:p.Gln1281Ter
- NP_001394892.1:p.Gln1281Ter
- NP_001394893.1:p.Gln1361Ter
- NP_001394894.1:p.Gln1240Ter
- NP_001394895.1:p.Gln1113Ter
- NP_001394896.1:p.Gln1113Ter
- NP_001394897.1:p.Gln541Ter
- NP_001394898.1:p.Gln540Ter
- NP_001394899.1:p.Gln306Ter
- NP_001394900.1:p.Gln306Ter
- NP_001394901.1:p.Gln305Ter
- NP_001394902.1:p.Gln306Ter
- NP_001394903.1:p.Gln306Ter
- NP_001394904.1:p.Gln306Ter
- NP_001394905.1:p.Gln306Ter
- NP_001394906.1:p.Gln306Ter
- NP_001394907.1:p.Gln306Ter
- NP_001394908.1:p.Gln305Ter
- NP_001394909.1:p.Gln305Ter
- NP_001394910.1:p.Gln305Ter
- NP_001394911.1:p.Gln305Ter
- NP_001394912.1:p.Gln305Ter
- NP_001394913.1:p.Gln305Ter
- NP_001394914.1:p.Gln305Ter
- NP_001394915.1:p.Gln305Ter
- NP_001394919.1:p.Gln305Ter
- NP_001394920.1:p.Gln305Ter
- NP_001394921.1:p.Gln305Ter
- NP_001394922.1:p.Gln306Ter
- NP_001395321.1:p.Gln305Ter
- NP_001395325.1:p.Gln305Ter
- NP_001395326.1:p.Gln305Ter
- NP_001395327.1:p.Gln305Ter
- NP_001395328.1:p.Gln305Ter
- NP_001395329.1:p.Gln304Ter
- NP_001395330.1:p.Gln304Ter
- NP_001395331.1:p.Gln304Ter
- NP_001395332.1:p.Gln305Ter
- NP_001395333.1:p.Gln305Ter
- NP_001395335.1:p.Gln303Ter
- NP_001395336.1:p.Gln304Ter
- NP_001395337.1:p.Gln303Ter
- NP_001395338.1:p.Gln280Ter
- NP_001395339.1:p.Gln259Ter
- NP_001395340.1:p.Gln280Ter
- NP_001395341.1:p.Gln280Ter
- NP_001395342.1:p.Gln279Ter
- NP_001395343.1:p.Gln280Ter
- NP_001395344.1:p.Gln280Ter
- NP_001395345.1:p.Gln279Ter
- NP_001395347.1:p.Gln267Ter
- NP_001395348.1:p.Gln267Ter
- NP_001395349.1:p.Gln267Ter
- NP_001395350.1:p.Gln266Ter
- NP_001395351.1:p.Gln267Ter
- NP_001395352.1:p.Gln267Ter
- NP_001395353.1:p.Gln266Ter
- NP_001395354.1:p.Gln265Ter
- NP_001395355.1:p.Gln265Ter
- NP_001395356.1:p.Gln265Ter
- NP_001395357.1:p.Gln265Ter
- NP_001395358.1:p.Gln265Ter
- NP_001395359.1:p.Gln265Ter
- NP_001395360.1:p.Gln266Ter
- NP_001395361.1:p.Gln264Ter
- NP_001395362.1:p.Gln264Ter
- NP_001395363.1:p.Gln264Ter
- NP_001395364.1:p.Gln264Ter
- NP_001395365.1:p.Gln265Ter
- NP_001395366.1:p.Gln265Ter
- NP_001395367.1:p.Gln265Ter
- NP_001395368.1:p.Gln265Ter
- NP_001395369.1:p.Gln265Ter
- NP_001395370.1:p.Gln264Ter
- NP_001395371.1:p.Gln264Ter
- NP_001395372.1:p.Gln264Ter
- NP_001395373.1:p.Gln264Ter
- NP_001395374.1:p.Gln264Ter
- NP_001395375.1:p.Gln264Ter
- NP_001395376.1:p.Gln264Ter
- NP_001395377.1:p.Gln264Ter
- NP_001395379.1:p.Gln264Ter
- NP_001395380.1:p.Gln261Ter
- NP_001395381.1:p.Gln259Ter
- NP_001395382.1:p.Gln259Ter
- NP_001395383.1:p.Gln259Ter
- NP_001395384.1:p.Gln259Ter
- NP_001395385.1:p.Gln259Ter
- NP_001395386.1:p.Gln259Ter
- NP_001395387.1:p.Gln259Ter
- NP_001395388.1:p.Gln259Ter
- NP_001395389.1:p.Gln259Ter
- NP_001395390.1:p.Gln259Ter
- NP_001395391.1:p.Gln258Ter
- NP_001395392.1:p.Gln258Ter
- NP_001395393.1:p.Gln258Ter
- NP_001395394.1:p.Gln258Ter
- NP_001395395.1:p.Gln258Ter
- NP_001395396.1:p.Gln258Ter
- NP_001395397.1:p.Gln258Ter
- NP_001395398.1:p.Gln258Ter
- NP_001395399.1:p.Gln257Ter
- NP_001395401.1:p.Gln305Ter
- NP_001395402.1:p.Gln305Ter
- NP_001395403.1:p.Gln239Ter
- NP_001395404.1:p.Gln238Ter
- NP_001395405.1:p.Gln239Ter
- NP_001395407.1:p.Gln236Ter
- NP_001395408.1:p.Gln236Ter
- NP_001395409.1:p.Gln236Ter
- NP_001395410.1:p.Gln236Ter
- NP_001395411.1:p.Gln236Ter
- NP_001395412.1:p.Gln236Ter
- NP_001395413.1:p.Gln236Ter
- NP_001395414.1:p.Gln236Ter
- NP_001395418.1:p.Gln235Ter
- NP_001395419.1:p.Gln235Ter
- NP_001395420.1:p.Gln235Ter
- NP_001395421.1:p.Gln235Ter
- NP_001395422.1:p.Gln235Ter
- NP_001395423.1:p.Gln226Ter
- NP_001395424.1:p.Gln225Ter
- NP_001395425.1:p.Gln218Ter
- NP_001395426.1:p.Gln218Ter
- NP_001395427.1:p.Gln218Ter
- NP_001395428.1:p.Gln218Ter
- NP_001395429.1:p.Gln218Ter
- NP_001395430.1:p.Gln218Ter
- NP_001395431.1:p.Gln195Ter
- NP_001395432.1:p.Gln217Ter
- NP_001395433.1:p.Gln217Ter
- NP_001395434.1:p.Gln217Ter
- NP_001395435.1:p.Gln197Ter
- NP_001395436.1:p.Gln196Ter
- NP_001395437.1:p.Gln193Ter
- NP_001395438.1:p.Gln193Ter
- NP_001395439.1:p.Gln179Ter
- NP_001395440.1:p.Gln178Ter
- NP_001395441.1:p.Gln138Ter
- NP_001395442.1:p.Gln235Ter
- NP_001395443.1:p.Gln236Ter
- NP_009225.1:p.Gln1409Ter
- NP_009225.1:p.Gln1409Ter
- NP_009228.2:p.Gln1362Ter
- NP_009229.2:p.Gln306Ter
- NP_009229.2:p.Gln306Ter
- NP_009230.2:p.Gln306Ter
- NP_009231.2:p.Gln1409Ter
- NP_009235.2:p.Gln306Ter
- LRG_292t1:c.4225C>T
- LRG_292:g.135448C>T
- LRG_292p1:p.Gln1409Ter
- NC_000017.10:g.41234553G>A
- NM_007294.3:c.4225C>T
- NM_007298.3:c.916C>T
- NR_027676.2:n.4402C>T
- p.Gln1409X
This HGVS expression did not pass validation- Protein change:
- Q1113*
- Links:
- dbSNP: rs886040218
- NCBI 1000 Genomes Browser:
- rs886040218
- Molecular consequence:
- NR_027676.2:n.4402C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001407571.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407581.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.4219C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.4213C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.4213C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.4147C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.4147C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.4147C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.4144C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.4147C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.4147C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.4141C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.4141C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.4144C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.4144C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.4144C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.4096C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.4096C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.4096C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.4096C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.4096C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407692.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407694.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407695.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407696.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407697.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407698.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407724.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407725.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407726.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407727.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407728.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407729.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407730.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407731.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407732.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407733.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407734.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407735.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407736.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407737.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407738.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407739.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407740.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407741.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407742.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407743.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407744.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407745.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407746.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407747.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407748.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407749.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407750.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407751.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407752.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407838.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407839.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407841.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407842.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407843.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407844.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407845.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407846.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407847.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407848.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407849.1:c.4078C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407850.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407851.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407852.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407853.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.4222C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.4024C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.4021C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.4021C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407879.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407881.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407882.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407884.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407885.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407886.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407887.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407889.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407894.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407895.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407896.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407897.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407898.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407899.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407900.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407902.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407904.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407906.1:c.4015C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407907.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407908.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407909.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407910.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407915.1:c.4009C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407916.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407917.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407918.1:c.4012C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407920.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407921.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407922.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407923.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407924.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407925.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407926.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407927.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407928.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407929.1:c.3961C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407930.1:c.3958C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407931.1:c.3958C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407932.1:c.3958C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407933.1:c.3958C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407934.1:c.3955C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407935.1:c.3958C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407936.1:c.3958C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.4102C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.4099C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407942.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407943.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407944.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407945.1:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407946.1:c.3892C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407947.1:c.3892C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407948.1:c.3892C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407949.1:c.3892C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407950.1:c.3892C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407951.1:c.3892C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407952.1:c.3889C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407953.1:c.3889C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407954.1:c.3889C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407955.1:c.3889C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407956.1:c.3886C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407957.1:c.3889C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407958.1:c.3889C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407959.1:c.3844C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407960.1:c.3844C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407962.1:c.3841C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407963.1:c.3841C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407964.1:c.4081C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407965.1:c.3718C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407966.1:c.3337C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407967.1:c.3337C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407968.1:c.1621C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407969.1:c.1618C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407970.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407971.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407972.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407973.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407974.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407975.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407976.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407977.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407978.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407979.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407980.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407981.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407982.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407983.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407984.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407985.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407986.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407990.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407991.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407992.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407993.1:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408392.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408396.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408397.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408398.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408399.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408400.1:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408401.1:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408402.1:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408403.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408404.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408406.1:c.907C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408407.1:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408408.1:c.907C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408409.1:c.838C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408410.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408411.1:c.838C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408412.1:c.838C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408413.1:c.835C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408414.1:c.838C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408415.1:c.838C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408416.1:c.835C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408418.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408419.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408420.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408421.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408422.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408423.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408424.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408425.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408426.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408427.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408428.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408429.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408430.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408431.1:c.796C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408432.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408433.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408434.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408435.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408436.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408437.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408438.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408439.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408440.1:c.793C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408441.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408442.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408443.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408444.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408445.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408446.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408447.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408448.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408450.1:c.790C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408451.1:c.781C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408452.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408453.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408454.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408455.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408456.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408457.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408458.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408459.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408460.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408461.1:c.775C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408462.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408463.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408464.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408465.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408466.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408467.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408468.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408469.1:c.772C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408470.1:c.769C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408472.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408473.1:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408474.1:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408475.1:c.712C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408476.1:c.715C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408478.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408479.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408480.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408481.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408482.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408483.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408484.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408485.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408489.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408490.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408491.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408492.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408493.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408494.1:c.676C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408495.1:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408496.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408497.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408498.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408499.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408500.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408501.1:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408502.1:c.583C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408503.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408504.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408505.1:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408506.1:c.589C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408507.1:c.586C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408508.1:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408509.1:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408510.1:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408511.1:c.532C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408512.1:c.412C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408513.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408514.1:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007297.4:c.4084C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007298.4:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007299.4:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.4225C>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007304.2:c.916C>T - nonsense - [Sequence Ontology: SO:0001587]
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
-
alpha-sarcoglycan isoform X1 [Python bivittatus]
alpha-sarcoglycan isoform X1 [Python bivittatus]gi|602636091|ref|XP_007424905.1|Protein
-
branched-chain amino acid ABC transporter permease [Cellulomonas iranensis]
branched-chain amino acid ABC transporter permease [Cellulomonas iranensis]gi|2111156271|gnl|PRJNA768313|LFM56 5|gb|UCN16260.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000661147 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Aug 9, 2021) | germline | clinical testing | |
SCV001345916 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Jan 15, 2020) | 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
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.
Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.
- PMID:
- 29446198
- PMCID:
- PMC5903938
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Ambry Genetics, SCV000661147.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The p.Q1409* pathogenic mutation (also known as c.4225C>T), located in coding exon 11 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4225. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
# | 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 Color Diagnostics, LLC DBA Color Health, SCV001345916.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This variant changes 1 nucleotide in exon 12 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
# | 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