- This record was updated by the submitter. Please see the current version.
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 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:
- RCV000162872.18
Allele description
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)
- 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.4117G>T (p.Glu1373Ter)
- Other names:
- p.E1373*:GAG>TAG
- HGVS:
- NC_000017.11:g.43091012C>A
- NG_005905.2:g.126972G>T
- NM_001407571.1:c.3904G>T
- NM_001407581.1:c.4117G>T
- NM_001407582.1:c.4117G>T
- NM_001407583.1:c.4117G>T
- NM_001407585.1:c.4117G>T
- NM_001407587.1:c.4114G>T
- NM_001407590.1:c.4114G>T
- NM_001407591.1:c.4114G>T
- NM_001407593.1:c.4117G>T
- NM_001407594.1:c.4117G>T
- NM_001407596.1:c.4117G>T
- NM_001407597.1:c.4117G>T
- NM_001407598.1:c.4117G>T
- NM_001407602.1:c.4117G>T
- NM_001407603.1:c.4117G>T
- NM_001407605.1:c.4117G>T
- NM_001407610.1:c.4114G>T
- NM_001407611.1:c.4114G>T
- NM_001407612.1:c.4114G>T
- NM_001407613.1:c.4114G>T
- NM_001407614.1:c.4114G>T
- NM_001407615.1:c.4114G>T
- NM_001407616.1:c.4117G>T
- NM_001407617.1:c.4117G>T
- NM_001407618.1:c.4117G>T
- NM_001407619.1:c.4117G>T
- NM_001407620.1:c.4117G>T
- NM_001407621.1:c.4117G>T
- NM_001407622.1:c.4117G>T
- NM_001407623.1:c.4117G>T
- NM_001407624.1:c.4117G>T
- NM_001407625.1:c.4117G>T
- NM_001407626.1:c.4117G>T
- NM_001407627.1:c.4114G>T
- NM_001407628.1:c.4114G>T
- NM_001407629.1:c.4114G>T
- NM_001407630.1:c.4114G>T
- NM_001407631.1:c.4114G>T
- NM_001407632.1:c.4114G>T
- NM_001407633.1:c.4114G>T
- NM_001407634.1:c.4114G>T
- NM_001407635.1:c.4114G>T
- NM_001407636.1:c.4114G>T
- NM_001407637.1:c.4114G>T
- NM_001407638.1:c.4114G>T
- NM_001407639.1:c.4117G>T
- NM_001407640.1:c.4117G>T
- NM_001407641.1:c.4117G>T
- NM_001407642.1:c.4117G>T
- NM_001407644.1:c.4114G>T
- NM_001407645.1:c.4114G>T
- NM_001407646.1:c.4108G>T
- NM_001407647.1:c.4108G>T
- NM_001407648.1:c.3994G>T
- NM_001407649.1:c.3991G>T
- NM_001407652.1:c.4117G>T
- NM_001407653.1:c.4039G>T
- NM_001407654.1:c.4039G>T
- NM_001407655.1:c.4039G>T
- NM_001407656.1:c.4039G>T
- NM_001407657.1:c.4039G>T
- NM_001407658.1:c.4039G>T
- NM_001407659.1:c.4036G>T
- NM_001407660.1:c.4036G>T
- NM_001407661.1:c.4036G>T
- NM_001407662.1:c.4036G>T
- NM_001407663.1:c.4039G>T
- NM_001407664.1:c.3994G>T
- NM_001407665.1:c.3994G>T
- NM_001407666.1:c.3994G>T
- NM_001407667.1:c.3994G>T
- NM_001407668.1:c.3994G>T
- NM_001407669.1:c.3994G>T
- NM_001407670.1:c.3991G>T
- NM_001407671.1:c.3991G>T
- NM_001407672.1:c.3991G>T
- NM_001407673.1:c.3991G>T
- NM_001407674.1:c.3994G>T
- NM_001407675.1:c.3994G>T
- NM_001407676.1:c.3994G>T
- NM_001407677.1:c.3994G>T
- NM_001407678.1:c.3994G>T
- NM_001407679.1:c.3994G>T
- NM_001407680.1:c.3994G>T
- NM_001407681.1:c.3994G>T
- NM_001407682.1:c.3994G>T
- NM_001407683.1:c.3994G>T
- NM_001407684.1:c.4117G>T
- NM_001407685.1:c.3991G>T
- NM_001407686.1:c.3991G>T
- NM_001407687.1:c.3991G>T
- NM_001407688.1:c.3991G>T
- NM_001407689.1:c.3991G>T
- NM_001407690.1:c.3991G>T
- NM_001407691.1:c.3991G>T
- NM_001407692.1:c.3976G>T
- NM_001407694.1:c.3976G>T
- NM_001407695.1:c.3976G>T
- NM_001407696.1:c.3976G>T
- NM_001407697.1:c.3976G>T
- NM_001407698.1:c.3976G>T
- NM_001407724.1:c.3976G>T
- NM_001407725.1:c.3976G>T
- NM_001407726.1:c.3976G>T
- NM_001407727.1:c.3976G>T
- NM_001407728.1:c.3976G>T
- NM_001407729.1:c.3976G>T
- NM_001407730.1:c.3976G>T
- NM_001407731.1:c.3976G>T
- NM_001407732.1:c.3976G>T
- NM_001407733.1:c.3976G>T
- NM_001407734.1:c.3976G>T
- NM_001407735.1:c.3976G>T
- NM_001407736.1:c.3976G>T
- NM_001407737.1:c.3976G>T
- NM_001407738.1:c.3976G>T
- NM_001407739.1:c.3976G>T
- NM_001407740.1:c.3973G>T
- NM_001407741.1:c.3973G>T
- NM_001407742.1:c.3973G>T
- NM_001407743.1:c.3973G>T
- NM_001407744.1:c.3973G>T
- NM_001407745.1:c.3973G>T
- NM_001407746.1:c.3973G>T
- NM_001407747.1:c.3973G>T
- NM_001407748.1:c.3973G>T
- NM_001407749.1:c.3973G>T
- NM_001407750.1:c.3976G>T
- NM_001407751.1:c.3976G>T
- NM_001407752.1:c.3976G>T
- NM_001407838.1:c.3973G>T
- NM_001407839.1:c.3973G>T
- NM_001407841.1:c.3973G>T
- NM_001407842.1:c.3973G>T
- NM_001407843.1:c.3973G>T
- NM_001407844.1:c.3973G>T
- NM_001407845.1:c.3973G>T
- NM_001407846.1:c.3973G>T
- NM_001407847.1:c.3973G>T
- NM_001407848.1:c.3973G>T
- NM_001407849.1:c.3973G>T
- NM_001407850.1:c.3976G>T
- NM_001407851.1:c.3976G>T
- NM_001407852.1:c.3976G>T
- NM_001407853.1:c.3904G>T
- NM_001407854.1:c.4117G>T
- NM_001407858.1:c.4117G>T
- NM_001407859.1:c.4117G>T
- NM_001407860.1:c.4114G>T
- NM_001407861.1:c.4114G>T
- NM_001407862.1:c.3916G>T
- NM_001407863.1:c.3994G>T
- NM_001407874.1:c.3913G>T
- NM_001407875.1:c.3913G>T
- NM_001407879.1:c.3907G>T
- NM_001407881.1:c.3907G>T
- NM_001407882.1:c.3907G>T
- NM_001407884.1:c.3907G>T
- NM_001407885.1:c.3907G>T
- NM_001407886.1:c.3907G>T
- NM_001407887.1:c.3907G>T
- NM_001407889.1:c.3907G>T
- NM_001407894.1:c.3904G>T
- NM_001407895.1:c.3904G>T
- NM_001407896.1:c.3904G>T
- NM_001407897.1:c.3904G>T
- NM_001407898.1:c.3904G>T
- NM_001407899.1:c.3904G>T
- NM_001407900.1:c.3907G>T
- NM_001407902.1:c.3907G>T
- NM_001407904.1:c.3907G>T
- NM_001407906.1:c.3907G>T
- NM_001407907.1:c.3907G>T
- NM_001407908.1:c.3907G>T
- NM_001407909.1:c.3907G>T
- NM_001407910.1:c.3907G>T
- NM_001407915.1:c.3904G>T
- NM_001407916.1:c.3904G>T
- NM_001407917.1:c.3904G>T
- NM_001407918.1:c.3904G>T
- NM_001407919.1:c.3994G>T
- NM_001407920.1:c.3853G>T
- NM_001407921.1:c.3853G>T
- NM_001407922.1:c.3853G>T
- NM_001407923.1:c.3853G>T
- NM_001407924.1:c.3853G>T
- NM_001407925.1:c.3853G>T
- NM_001407926.1:c.3853G>T
- NM_001407927.1:c.3853G>T
- NM_001407928.1:c.3853G>T
- NM_001407929.1:c.3853G>T
- NM_001407930.1:c.3850G>T
- NM_001407931.1:c.3850G>T
- NM_001407932.1:c.3850G>T
- NM_001407933.1:c.3853G>T
- NM_001407934.1:c.3850G>T
- NM_001407935.1:c.3853G>T
- NM_001407936.1:c.3850G>T
- NM_001407937.1:c.3994G>T
- NM_001407938.1:c.3994G>T
- NM_001407939.1:c.3994G>T
- NM_001407940.1:c.3991G>T
- NM_001407941.1:c.3991G>T
- NM_001407942.1:c.3976G>T
- NM_001407943.1:c.3973G>T
- NM_001407944.1:c.3976G>T
- NM_001407945.1:c.3976G>T
- NM_001407946.1:c.3784G>T
- NM_001407947.1:c.3784G>T
- NM_001407948.1:c.3784G>T
- NM_001407949.1:c.3784G>T
- NM_001407950.1:c.3784G>T
- NM_001407951.1:c.3784G>T
- NM_001407952.1:c.3784G>T
- NM_001407953.1:c.3784G>T
- NM_001407954.1:c.3781G>T
- NM_001407955.1:c.3781G>T
- NM_001407956.1:c.3781G>T
- NM_001407957.1:c.3784G>T
- NM_001407958.1:c.3781G>T
- NM_001407959.1:c.3736G>T
- NM_001407960.1:c.3736G>T
- NM_001407962.1:c.3733G>T
- NM_001407963.1:c.3736G>T
- NM_001407964.1:c.3973G>T
- NM_001407965.1:c.3613G>T
- NM_001407966.1:c.3229G>T
- NM_001407967.1:c.3229G>T
- NM_001407968.1:c.1513G>T
- NM_001407969.1:c.1513G>T
- NM_001407970.1:c.808G>T
- NM_001407971.1:c.808G>T
- NM_001407972.1:c.805G>T
- NM_001407973.1:c.808G>T
- NM_001407974.1:c.808G>T
- NM_001407975.1:c.808G>T
- NM_001407976.1:c.808G>T
- NM_001407977.1:c.808G>T
- NM_001407978.1:c.808G>T
- NM_001407979.1:c.808G>T
- NM_001407980.1:c.808G>T
- NM_001407981.1:c.808G>T
- NM_001407982.1:c.808G>T
- NM_001407983.1:c.808G>T
- NM_001407984.1:c.805G>T
- NM_001407985.1:c.805G>T
- NM_001407986.1:c.805G>T
- NM_001407990.1:c.808G>T
- NM_001407991.1:c.805G>T
- NM_001407992.1:c.805G>T
- NM_001407993.1:c.808G>T
- NM_001408392.1:c.805G>T
- NM_001408396.1:c.805G>T
- NM_001408397.1:c.805G>T
- NM_001408398.1:c.805G>T
- NM_001408399.1:c.805G>T
- NM_001408400.1:c.805G>T
- NM_001408401.1:c.805G>T
- NM_001408402.1:c.805G>T
- NM_001408403.1:c.808G>T
- NM_001408404.1:c.808G>T
- NM_001408406.1:c.802G>T
- NM_001408407.1:c.805G>T
- NM_001408408.1:c.799G>T
- NM_001408409.1:c.730G>T
- NM_001408410.1:c.667G>T
- NM_001408411.1:c.730G>T
- NM_001408412.1:c.730G>T
- NM_001408413.1:c.727G>T
- NM_001408414.1:c.730G>T
- NM_001408415.1:c.730G>T
- NM_001408416.1:c.727G>T
- NM_001408418.1:c.691G>T
- NM_001408419.1:c.691G>T
- NM_001408420.1:c.691G>T
- NM_001408421.1:c.688G>T
- NM_001408422.1:c.691G>T
- NM_001408423.1:c.691G>T
- NM_001408424.1:c.688G>T
- NM_001408425.1:c.685G>T
- NM_001408426.1:c.685G>T
- NM_001408427.1:c.685G>T
- NM_001408428.1:c.685G>T
- NM_001408429.1:c.685G>T
- NM_001408430.1:c.685G>T
- NM_001408431.1:c.688G>T
- NM_001408432.1:c.682G>T
- NM_001408433.1:c.682G>T
- NM_001408434.1:c.682G>T
- NM_001408435.1:c.682G>T
- NM_001408436.1:c.685G>T
- NM_001408437.1:c.685G>T
- NM_001408438.1:c.685G>T
- NM_001408439.1:c.685G>T
- NM_001408440.1:c.685G>T
- NM_001408441.1:c.685G>T
- NM_001408442.1:c.685G>T
- NM_001408443.1:c.685G>T
- NM_001408444.1:c.685G>T
- NM_001408445.1:c.682G>T
- NM_001408446.1:c.682G>T
- NM_001408447.1:c.682G>T
- NM_001408448.1:c.682G>T
- NM_001408450.1:c.682G>T
- NM_001408451.1:c.673G>T
- NM_001408452.1:c.667G>T
- NM_001408453.1:c.667G>T
- NM_001408454.1:c.667G>T
- NM_001408455.1:c.667G>T
- NM_001408456.1:c.667G>T
- NM_001408457.1:c.667G>T
- NM_001408458.1:c.667G>T
- NM_001408459.1:c.667G>T
- NM_001408460.1:c.667G>T
- NM_001408461.1:c.667G>T
- NM_001408462.1:c.664G>T
- NM_001408463.1:c.664G>T
- NM_001408464.1:c.664G>T
- NM_001408465.1:c.664G>T
- NM_001408466.1:c.667G>T
- NM_001408467.1:c.667G>T
- NM_001408468.1:c.664G>T
- NM_001408469.1:c.667G>T
- NM_001408470.1:c.664G>T
- NM_001408472.1:c.808G>T
- NM_001408473.1:c.805G>T
- NM_001408474.1:c.607G>T
- NM_001408475.1:c.604G>T
- NM_001408476.1:c.607G>T
- NM_001408478.1:c.598G>T
- NM_001408479.1:c.598G>T
- NM_001408480.1:c.598G>T
- NM_001408481.1:c.598G>T
- NM_001408482.1:c.598G>T
- NM_001408483.1:c.598G>T
- NM_001408484.1:c.598G>T
- NM_001408485.1:c.598G>T
- NM_001408489.1:c.598G>T
- NM_001408490.1:c.595G>T
- NM_001408491.1:c.595G>T
- NM_001408492.1:c.598G>T
- NM_001408493.1:c.595G>T
- NM_001408494.1:c.568G>T
- NM_001408495.1:c.565G>T
- NM_001408496.1:c.544G>T
- NM_001408497.1:c.544G>T
- NM_001408498.1:c.544G>T
- NM_001408499.1:c.544G>T
- NM_001408500.1:c.544G>T
- NM_001408501.1:c.544G>T
- NM_001408502.1:c.475G>T
- NM_001408503.1:c.541G>T
- NM_001408504.1:c.541G>T
- NM_001408505.1:c.541G>T
- NM_001408506.1:c.481G>T
- NM_001408507.1:c.481G>T
- NM_001408508.1:c.472G>T
- NM_001408509.1:c.472G>T
- NM_001408510.1:c.427G>T
- NM_001408511.1:c.424G>T
- NM_001408512.1:c.304G>T
- NM_001408513.1:c.598G>T
- NM_001408514.1:c.598G>T
- NM_007294.4:c.4117G>TMANE SELECT
- NM_007297.4:c.3976G>T
- NM_007298.4:c.808G>T
- NM_007299.4:c.808G>T
- NM_007300.3:c.4117G>T
- NM_007300.4:c.4117G>T
- NM_007304.2:c.808G>T
- NP_001394500.1:p.Glu1302Ter
- NP_001394510.1:p.Glu1373Ter
- NP_001394511.1:p.Glu1373Ter
- NP_001394512.1:p.Glu1373Ter
- NP_001394514.1:p.Glu1373Ter
- NP_001394516.1:p.Glu1372Ter
- NP_001394519.1:p.Glu1372Ter
- NP_001394520.1:p.Glu1372Ter
- NP_001394522.1:p.Glu1373Ter
- NP_001394523.1:p.Glu1373Ter
- NP_001394525.1:p.Glu1373Ter
- NP_001394526.1:p.Glu1373Ter
- NP_001394527.1:p.Glu1373Ter
- NP_001394531.1:p.Glu1373Ter
- NP_001394532.1:p.Glu1373Ter
- NP_001394534.1:p.Glu1373Ter
- NP_001394539.1:p.Glu1372Ter
- NP_001394540.1:p.Glu1372Ter
- NP_001394541.1:p.Glu1372Ter
- NP_001394542.1:p.Glu1372Ter
- NP_001394543.1:p.Glu1372Ter
- NP_001394544.1:p.Glu1372Ter
- NP_001394545.1:p.Glu1373Ter
- NP_001394546.1:p.Glu1373Ter
- NP_001394547.1:p.Glu1373Ter
- NP_001394548.1:p.Glu1373Ter
- NP_001394549.1:p.Glu1373Ter
- NP_001394550.1:p.Glu1373Ter
- NP_001394551.1:p.Glu1373Ter
- NP_001394552.1:p.Glu1373Ter
- NP_001394553.1:p.Glu1373Ter
- NP_001394554.1:p.Glu1373Ter
- NP_001394555.1:p.Glu1373Ter
- NP_001394556.1:p.Glu1372Ter
- NP_001394557.1:p.Glu1372Ter
- NP_001394558.1:p.Glu1372Ter
- NP_001394559.1:p.Glu1372Ter
- NP_001394560.1:p.Glu1372Ter
- NP_001394561.1:p.Glu1372Ter
- NP_001394562.1:p.Glu1372Ter
- NP_001394563.1:p.Glu1372Ter
- NP_001394564.1:p.Glu1372Ter
- NP_001394565.1:p.Glu1372Ter
- NP_001394566.1:p.Glu1372Ter
- NP_001394567.1:p.Glu1372Ter
- NP_001394568.1:p.Glu1373Ter
- NP_001394569.1:p.Glu1373Ter
- NP_001394570.1:p.Glu1373Ter
- NP_001394571.1:p.Glu1373Ter
- NP_001394573.1:p.Glu1372Ter
- NP_001394574.1:p.Glu1372Ter
- NP_001394575.1:p.Glu1370Ter
- NP_001394576.1:p.Glu1370Ter
- NP_001394577.1:p.Glu1332Ter
- NP_001394578.1:p.Glu1331Ter
- NP_001394581.1:p.Glu1373Ter
- NP_001394582.1:p.Glu1347Ter
- NP_001394583.1:p.Glu1347Ter
- NP_001394584.1:p.Glu1347Ter
- NP_001394585.1:p.Glu1347Ter
- NP_001394586.1:p.Glu1347Ter
- NP_001394587.1:p.Glu1347Ter
- NP_001394588.1:p.Glu1346Ter
- NP_001394589.1:p.Glu1346Ter
- NP_001394590.1:p.Glu1346Ter
- NP_001394591.1:p.Glu1346Ter
- NP_001394592.1:p.Glu1347Ter
- NP_001394593.1:p.Glu1332Ter
- NP_001394594.1:p.Glu1332Ter
- NP_001394595.1:p.Glu1332Ter
- NP_001394596.1:p.Glu1332Ter
- NP_001394597.1:p.Glu1332Ter
- NP_001394598.1:p.Glu1332Ter
- NP_001394599.1:p.Glu1331Ter
- NP_001394600.1:p.Glu1331Ter
- NP_001394601.1:p.Glu1331Ter
- NP_001394602.1:p.Glu1331Ter
- NP_001394603.1:p.Glu1332Ter
- NP_001394604.1:p.Glu1332Ter
- NP_001394605.1:p.Glu1332Ter
- NP_001394606.1:p.Glu1332Ter
- NP_001394607.1:p.Glu1332Ter
- NP_001394608.1:p.Glu1332Ter
- NP_001394609.1:p.Glu1332Ter
- NP_001394610.1:p.Glu1332Ter
- NP_001394611.1:p.Glu1332Ter
- NP_001394612.1:p.Glu1332Ter
- NP_001394613.1:p.Glu1373Ter
- NP_001394614.1:p.Glu1331Ter
- NP_001394615.1:p.Glu1331Ter
- NP_001394616.1:p.Glu1331Ter
- NP_001394617.1:p.Glu1331Ter
- NP_001394618.1:p.Glu1331Ter
- NP_001394619.1:p.Glu1331Ter
- NP_001394620.1:p.Glu1331Ter
- NP_001394621.1:p.Glu1326Ter
- NP_001394623.1:p.Glu1326Ter
- NP_001394624.1:p.Glu1326Ter
- NP_001394625.1:p.Glu1326Ter
- NP_001394626.1:p.Glu1326Ter
- NP_001394627.1:p.Glu1326Ter
- NP_001394653.1:p.Glu1326Ter
- NP_001394654.1:p.Glu1326Ter
- NP_001394655.1:p.Glu1326Ter
- NP_001394656.1:p.Glu1326Ter
- NP_001394657.1:p.Glu1326Ter
- NP_001394658.1:p.Glu1326Ter
- NP_001394659.1:p.Glu1326Ter
- NP_001394660.1:p.Glu1326Ter
- NP_001394661.1:p.Glu1326Ter
- NP_001394662.1:p.Glu1326Ter
- NP_001394663.1:p.Glu1326Ter
- NP_001394664.1:p.Glu1326Ter
- NP_001394665.1:p.Glu1326Ter
- NP_001394666.1:p.Glu1326Ter
- NP_001394667.1:p.Glu1326Ter
- NP_001394668.1:p.Glu1326Ter
- NP_001394669.1:p.Glu1325Ter
- NP_001394670.1:p.Glu1325Ter
- NP_001394671.1:p.Glu1325Ter
- NP_001394672.1:p.Glu1325Ter
- NP_001394673.1:p.Glu1325Ter
- NP_001394674.1:p.Glu1325Ter
- NP_001394675.1:p.Glu1325Ter
- NP_001394676.1:p.Glu1325Ter
- NP_001394677.1:p.Glu1325Ter
- NP_001394678.1:p.Glu1325Ter
- NP_001394679.1:p.Glu1326Ter
- NP_001394680.1:p.Glu1326Ter
- NP_001394681.1:p.Glu1326Ter
- NP_001394767.1:p.Glu1325Ter
- NP_001394768.1:p.Glu1325Ter
- NP_001394770.1:p.Glu1325Ter
- NP_001394771.1:p.Glu1325Ter
- NP_001394772.1:p.Glu1325Ter
- NP_001394773.1:p.Glu1325Ter
- NP_001394774.1:p.Glu1325Ter
- NP_001394775.1:p.Glu1325Ter
- NP_001394776.1:p.Glu1325Ter
- NP_001394777.1:p.Glu1325Ter
- NP_001394778.1:p.Glu1325Ter
- NP_001394779.1:p.Glu1326Ter
- NP_001394780.1:p.Glu1326Ter
- NP_001394781.1:p.Glu1326Ter
- NP_001394782.1:p.Glu1302Ter
- NP_001394783.1:p.Glu1373Ter
- NP_001394787.1:p.Glu1373Ter
- NP_001394788.1:p.Glu1373Ter
- NP_001394789.1:p.Glu1372Ter
- NP_001394790.1:p.Glu1372Ter
- NP_001394791.1:p.Glu1306Ter
- NP_001394792.1:p.Glu1332Ter
- NP_001394803.1:p.Glu1305Ter
- NP_001394804.1:p.Glu1305Ter
- NP_001394808.1:p.Glu1303Ter
- NP_001394810.1:p.Glu1303Ter
- NP_001394811.1:p.Glu1303Ter
- NP_001394813.1:p.Glu1303Ter
- NP_001394814.1:p.Glu1303Ter
- NP_001394815.1:p.Glu1303Ter
- NP_001394816.1:p.Glu1303Ter
- NP_001394818.1:p.Glu1303Ter
- NP_001394823.1:p.Glu1302Ter
- NP_001394824.1:p.Glu1302Ter
- NP_001394825.1:p.Glu1302Ter
- NP_001394826.1:p.Glu1302Ter
- NP_001394827.1:p.Glu1302Ter
- NP_001394828.1:p.Glu1302Ter
- NP_001394829.1:p.Glu1303Ter
- NP_001394831.1:p.Glu1303Ter
- NP_001394833.1:p.Glu1303Ter
- NP_001394835.1:p.Glu1303Ter
- NP_001394836.1:p.Glu1303Ter
- NP_001394837.1:p.Glu1303Ter
- NP_001394838.1:p.Glu1303Ter
- NP_001394839.1:p.Glu1303Ter
- NP_001394844.1:p.Glu1302Ter
- NP_001394845.1:p.Glu1302Ter
- NP_001394846.1:p.Glu1302Ter
- NP_001394847.1:p.Glu1302Ter
- NP_001394848.1:p.Glu1332Ter
- NP_001394849.1:p.Glu1285Ter
- NP_001394850.1:p.Glu1285Ter
- NP_001394851.1:p.Glu1285Ter
- NP_001394852.1:p.Glu1285Ter
- NP_001394853.1:p.Glu1285Ter
- NP_001394854.1:p.Glu1285Ter
- NP_001394855.1:p.Glu1285Ter
- NP_001394856.1:p.Glu1285Ter
- NP_001394857.1:p.Glu1285Ter
- NP_001394858.1:p.Glu1285Ter
- NP_001394859.1:p.Glu1284Ter
- NP_001394860.1:p.Glu1284Ter
- NP_001394861.1:p.Glu1284Ter
- NP_001394862.1:p.Glu1285Ter
- NP_001394863.1:p.Glu1284Ter
- NP_001394864.1:p.Glu1285Ter
- NP_001394865.1:p.Glu1284Ter
- NP_001394866.1:p.Glu1332Ter
- NP_001394867.1:p.Glu1332Ter
- NP_001394868.1:p.Glu1332Ter
- NP_001394869.1:p.Glu1331Ter
- NP_001394870.1:p.Glu1331Ter
- NP_001394871.1:p.Glu1326Ter
- NP_001394872.1:p.Glu1325Ter
- NP_001394873.1:p.Glu1326Ter
- NP_001394874.1:p.Glu1326Ter
- NP_001394875.1:p.Glu1262Ter
- NP_001394876.1:p.Glu1262Ter
- NP_001394877.1:p.Glu1262Ter
- NP_001394878.1:p.Glu1262Ter
- NP_001394879.1:p.Glu1262Ter
- NP_001394880.1:p.Glu1262Ter
- NP_001394881.1:p.Glu1262Ter
- NP_001394882.1:p.Glu1262Ter
- NP_001394883.1:p.Glu1261Ter
- NP_001394884.1:p.Glu1261Ter
- NP_001394885.1:p.Glu1261Ter
- NP_001394886.1:p.Glu1262Ter
- NP_001394887.1:p.Glu1261Ter
- NP_001394888.1:p.Glu1246Ter
- NP_001394889.1:p.Glu1246Ter
- NP_001394891.1:p.Glu1245Ter
- NP_001394892.1:p.Glu1246Ter
- NP_001394893.1:p.Glu1325Ter
- NP_001394894.1:p.Glu1205Ter
- NP_001394895.1:p.Glu1077Ter
- NP_001394896.1:p.Glu1077Ter
- NP_001394897.1:p.Glu505Ter
- NP_001394898.1:p.Glu505Ter
- NP_001394899.1:p.Glu270Ter
- NP_001394900.1:p.Glu270Ter
- NP_001394901.1:p.Glu269Ter
- NP_001394902.1:p.Glu270Ter
- NP_001394903.1:p.Glu270Ter
- NP_001394904.1:p.Glu270Ter
- NP_001394905.1:p.Glu270Ter
- NP_001394906.1:p.Glu270Ter
- NP_001394907.1:p.Glu270Ter
- NP_001394908.1:p.Glu270Ter
- NP_001394909.1:p.Glu270Ter
- NP_001394910.1:p.Glu270Ter
- NP_001394911.1:p.Glu270Ter
- NP_001394912.1:p.Glu270Ter
- NP_001394913.1:p.Glu269Ter
- NP_001394914.1:p.Glu269Ter
- NP_001394915.1:p.Glu269Ter
- NP_001394919.1:p.Glu270Ter
- NP_001394920.1:p.Glu269Ter
- NP_001394921.1:p.Glu269Ter
- NP_001394922.1:p.Glu270Ter
- NP_001395321.1:p.Glu269Ter
- NP_001395325.1:p.Glu269Ter
- NP_001395326.1:p.Glu269Ter
- NP_001395327.1:p.Glu269Ter
- NP_001395328.1:p.Glu269Ter
- NP_001395329.1:p.Glu269Ter
- NP_001395330.1:p.Glu269Ter
- NP_001395331.1:p.Glu269Ter
- NP_001395332.1:p.Glu270Ter
- NP_001395333.1:p.Glu270Ter
- NP_001395335.1:p.Glu268Ter
- NP_001395336.1:p.Glu269Ter
- NP_001395337.1:p.Glu267Ter
- NP_001395338.1:p.Glu244Ter
- NP_001395339.1:p.Glu223Ter
- NP_001395340.1:p.Glu244Ter
- NP_001395341.1:p.Glu244Ter
- NP_001395342.1:p.Glu243Ter
- NP_001395343.1:p.Glu244Ter
- NP_001395344.1:p.Glu244Ter
- NP_001395345.1:p.Glu243Ter
- NP_001395347.1:p.Glu231Ter
- NP_001395348.1:p.Glu231Ter
- NP_001395349.1:p.Glu231Ter
- NP_001395350.1:p.Glu230Ter
- NP_001395351.1:p.Glu231Ter
- NP_001395352.1:p.Glu231Ter
- NP_001395353.1:p.Glu230Ter
- NP_001395354.1:p.Glu229Ter
- NP_001395355.1:p.Glu229Ter
- NP_001395356.1:p.Glu229Ter
- NP_001395357.1:p.Glu229Ter
- NP_001395358.1:p.Glu229Ter
- NP_001395359.1:p.Glu229Ter
- NP_001395360.1:p.Glu230Ter
- NP_001395361.1:p.Glu228Ter
- NP_001395362.1:p.Glu228Ter
- NP_001395363.1:p.Glu228Ter
- NP_001395364.1:p.Glu228Ter
- NP_001395365.1:p.Glu229Ter
- NP_001395366.1:p.Glu229Ter
- NP_001395367.1:p.Glu229Ter
- NP_001395368.1:p.Glu229Ter
- NP_001395369.1:p.Glu229Ter
- NP_001395370.1:p.Glu229Ter
- NP_001395371.1:p.Glu229Ter
- NP_001395372.1:p.Glu229Ter
- NP_001395373.1:p.Glu229Ter
- NP_001395374.1:p.Glu228Ter
- NP_001395375.1:p.Glu228Ter
- NP_001395376.1:p.Glu228Ter
- NP_001395377.1:p.Glu228Ter
- NP_001395379.1:p.Glu228Ter
- NP_001395380.1:p.Glu225Ter
- NP_001395381.1:p.Glu223Ter
- NP_001395382.1:p.Glu223Ter
- NP_001395383.1:p.Glu223Ter
- NP_001395384.1:p.Glu223Ter
- NP_001395385.1:p.Glu223Ter
- NP_001395386.1:p.Glu223Ter
- NP_001395387.1:p.Glu223Ter
- NP_001395388.1:p.Glu223Ter
- NP_001395389.1:p.Glu223Ter
- NP_001395390.1:p.Glu223Ter
- NP_001395391.1:p.Glu222Ter
- NP_001395392.1:p.Glu222Ter
- NP_001395393.1:p.Glu222Ter
- NP_001395394.1:p.Glu222Ter
- NP_001395395.1:p.Glu223Ter
- NP_001395396.1:p.Glu223Ter
- NP_001395397.1:p.Glu222Ter
- NP_001395398.1:p.Glu223Ter
- NP_001395399.1:p.Glu222Ter
- NP_001395401.1:p.Glu270Ter
- NP_001395402.1:p.Glu269Ter
- NP_001395403.1:p.Glu203Ter
- NP_001395404.1:p.Glu202Ter
- NP_001395405.1:p.Glu203Ter
- NP_001395407.1:p.Glu200Ter
- NP_001395408.1:p.Glu200Ter
- NP_001395409.1:p.Glu200Ter
- NP_001395410.1:p.Glu200Ter
- NP_001395411.1:p.Glu200Ter
- NP_001395412.1:p.Glu200Ter
- NP_001395413.1:p.Glu200Ter
- NP_001395414.1:p.Glu200Ter
- NP_001395418.1:p.Glu200Ter
- NP_001395419.1:p.Glu199Ter
- NP_001395420.1:p.Glu199Ter
- NP_001395421.1:p.Glu200Ter
- NP_001395422.1:p.Glu199Ter
- NP_001395423.1:p.Glu190Ter
- NP_001395424.1:p.Glu189Ter
- NP_001395425.1:p.Glu182Ter
- NP_001395426.1:p.Glu182Ter
- NP_001395427.1:p.Glu182Ter
- NP_001395428.1:p.Glu182Ter
- NP_001395429.1:p.Glu182Ter
- NP_001395430.1:p.Glu182Ter
- NP_001395431.1:p.Glu159Ter
- NP_001395432.1:p.Glu181Ter
- NP_001395433.1:p.Glu181Ter
- NP_001395434.1:p.Glu181Ter
- NP_001395435.1:p.Glu161Ter
- NP_001395436.1:p.Glu161Ter
- NP_001395437.1:p.Glu158Ter
- NP_001395438.1:p.Glu158Ter
- NP_001395439.1:p.Glu143Ter
- NP_001395440.1:p.Glu142Ter
- NP_001395441.1:p.Glu102Ter
- NP_001395442.1:p.Glu200Ter
- NP_001395443.1:p.Glu200Ter
- NP_009225.1:p.Glu1373Ter
- NP_009225.1:p.Glu1373Ter
- NP_009228.2:p.Glu1326Ter
- NP_009229.2:p.Glu270Ter
- NP_009229.2:p.Glu270Ter
- NP_009230.2:p.Glu270Ter
- NP_009231.2:p.Glu1373Ter
- NP_009235.2:p.Glu270Ter
- LRG_292t1:c.4117G>T
- LRG_292:g.126972G>T
- LRG_292p1:p.Glu1373Ter
- NC_000017.10:g.41243029C>A
- NM_007294.3:c.4117G>T
- NM_007294.4:c.4117G>T
- NM_007298.3:c.808G>T
- NR_027676.2:n.4294G>T
- U14680.1:n.4236G>T
- p.E1373*
- p.Glu1373*
This HGVS expression did not pass validation- Nucleotide change:
- 4236G>T
- Protein change:
- E102*
- Links:
- dbSNP: rs80357259
- NCBI 1000 Genomes Browser:
- rs80357259
- Molecular consequence:
- NR_027676.2:n.4294G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NM_001407571.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407581.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407582.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407583.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407585.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407587.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407590.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407591.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407593.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407594.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407596.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407597.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407598.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407602.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407603.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407605.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407610.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407611.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407612.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407613.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407614.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407615.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407616.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407617.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407618.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407619.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407620.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407621.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407622.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407623.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407624.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407625.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407626.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407627.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407628.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407629.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407630.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407631.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407632.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407633.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407634.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407635.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407636.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407637.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407638.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407639.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407640.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407641.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407642.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407644.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407645.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407646.1:c.4108G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407647.1:c.4108G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407648.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407649.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407652.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407653.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407654.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407655.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407656.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407657.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407658.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407659.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407660.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407661.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407662.1:c.4036G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407663.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407664.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407665.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407666.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407667.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407668.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407669.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407670.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407671.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407672.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407673.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407674.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407675.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407676.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407677.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407678.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407679.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407680.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407681.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407682.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407683.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407684.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407685.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407686.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407687.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407688.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407689.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407690.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407691.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407692.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407694.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407695.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407696.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407697.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407698.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407724.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407725.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407726.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407727.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407728.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407729.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407730.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407731.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407732.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407733.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407734.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407735.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407736.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407737.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407738.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407739.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407740.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407741.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407742.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407743.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407744.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407745.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407746.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407747.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407748.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407749.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407750.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407751.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407752.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407838.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407839.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407841.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407842.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407843.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407844.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407845.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407846.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407847.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407848.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407849.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407850.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407851.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407852.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407853.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407854.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407858.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407859.1:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407860.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407861.1:c.4114G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407862.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407863.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407874.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407875.1:c.3913G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407879.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407881.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407882.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407884.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407885.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407886.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407887.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407889.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407894.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407895.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407896.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407897.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407898.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407899.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407900.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407902.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407904.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407906.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407907.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407908.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407909.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407910.1:c.3907G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407915.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407916.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407917.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407918.1:c.3904G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407919.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407920.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407921.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407922.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407923.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407924.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407925.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407926.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407927.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407928.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407929.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407930.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407931.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407932.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407933.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407934.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407935.1:c.3853G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407936.1:c.3850G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407937.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407938.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407939.1:c.3994G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407940.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407941.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407942.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407943.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407944.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407945.1:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407946.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407947.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407948.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407949.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407950.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407951.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407952.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407953.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407954.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407955.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407956.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407957.1:c.3784G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407958.1:c.3781G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407959.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407960.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407962.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407963.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407964.1:c.3973G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407965.1:c.3613G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407966.1:c.3229G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407967.1:c.3229G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407968.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407969.1:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407970.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407971.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407972.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407973.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407974.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407975.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407976.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407977.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407978.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407979.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407980.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407981.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407982.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407983.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407984.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407985.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407986.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407990.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407991.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407992.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001407993.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408392.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408396.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408397.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408398.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408399.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408400.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408401.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408402.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408403.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408404.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408406.1:c.802G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408407.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408408.1:c.799G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408409.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408410.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408411.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408412.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408413.1:c.727G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408414.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408415.1:c.730G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408416.1:c.727G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408418.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408419.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408420.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408421.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408422.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408423.1:c.691G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408424.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408425.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408426.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408427.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408428.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408429.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408430.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408431.1:c.688G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408432.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408433.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408434.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408435.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408436.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408437.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408438.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408439.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408440.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408441.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408442.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408443.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408444.1:c.685G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408445.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408446.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408447.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408448.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408450.1:c.682G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408451.1:c.673G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408452.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408453.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408454.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408455.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408456.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408457.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408458.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408459.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408460.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408461.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408462.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408463.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408464.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408465.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408466.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408467.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408468.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408469.1:c.667G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408470.1:c.664G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408472.1:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408473.1:c.805G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408474.1:c.607G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408475.1:c.604G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408476.1:c.607G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408478.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408479.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408480.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408481.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408482.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408483.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408484.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408485.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408489.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408490.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408491.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408492.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408493.1:c.595G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408494.1:c.568G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408495.1:c.565G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408496.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408497.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408498.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408499.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408500.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408501.1:c.544G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408502.1:c.475G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408503.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408504.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408505.1:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408506.1:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408507.1:c.481G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408508.1:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408509.1:c.472G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408510.1:c.427G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408511.1:c.424G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408512.1:c.304G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408513.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_001408514.1:c.598G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007294.4:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007297.4:c.3976G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007298.4:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007299.4:c.808G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007300.4:c.4117G>T - nonsense - [Sequence Ontology: SO:0001587]
- NM_007304.2:c.808G>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
-
cytochrome c oxidase subunit II (mitochondrion) [Zalophus californianus]
cytochrome c oxidase subunit II (mitochondrion) [Zalophus californianus]gi|115494569|gnl|NCBI_MITO|COX2_198 f|YP_778698.1|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 |
---|---|---|---|---|---|---|
SCV000213359 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Jul 26, 2022) | germline | clinical testing | |
SCV000537657 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (May 23, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.
Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.
- PMID:
- 28486781
- PMCID:
- PMC5526459
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA.
Am J Hum Genet. 2001 Mar;68(3):700-10. Epub 2001 Feb 15.
- PMID:
- 11179017
- PMCID:
- PMC1274482
Details of each submission
From Ambry Genetics, SCV000213359.7
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
Description
The p.E1373* pathogenic mutation (also known as c.4117G>T) located in coding exon 10 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4117. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. This alteration has been identified in several individuals with hereditary breast and/or ovarian cancer (HBOC) syndrome (Risch HA et al. Am. J. Hum. Genet. 2001 Mar; 68(3):700-10. Kadouri L et al. BMC Cancer 2007; 7:14. Geisler JP et al. J. Natl. Cancer Inst. 2002 Jan; 94(1):61-7; Lolas Hamameh S et al. Int. J. Cancer. 2017 Aug;141(4):750-756; Palmero E et al. Sci Rep 2018 Jun;8(1):9188). 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, SCV000537657.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (7) |
Description
This variant changes 1 nucleotide in exon 11 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 been reported in over two dozen individuals affected with breast and/or ovarian cancer (PMID: 11179017, 11773283, 17233897, 17591842, 30128899, 32438681), and this variant was also found to segregate with breast, ovarian or pancreatic cancer in one family (PMID: 17233897). 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: Sep 16, 2024