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NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 24, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002521867.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)]

NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)
Other names:
E1357X (4188G>T)
HGVS:
  • NC_000017.11:g.43091462C>A
  • NG_005905.2:g.126522G>T
  • NG_087068.1:g.444C>A
  • NM_001407571.1:c.3856G>T
  • NM_001407581.1:c.4069G>T
  • NM_001407582.1:c.4069G>T
  • NM_001407583.1:c.4069G>T
  • NM_001407585.1:c.4069G>T
  • NM_001407587.1:c.4066G>T
  • NM_001407590.1:c.4066G>T
  • NM_001407591.1:c.4066G>T
  • NM_001407593.1:c.4069G>T
  • NM_001407594.1:c.4069G>T
  • NM_001407596.1:c.4069G>T
  • NM_001407597.1:c.4069G>T
  • NM_001407598.1:c.4069G>T
  • NM_001407602.1:c.4069G>T
  • NM_001407603.1:c.4069G>T
  • NM_001407605.1:c.4069G>T
  • NM_001407610.1:c.4066G>T
  • NM_001407611.1:c.4066G>T
  • NM_001407612.1:c.4066G>T
  • NM_001407613.1:c.4066G>T
  • NM_001407614.1:c.4066G>T
  • NM_001407615.1:c.4066G>T
  • NM_001407616.1:c.4069G>T
  • NM_001407617.1:c.4069G>T
  • NM_001407618.1:c.4069G>T
  • NM_001407619.1:c.4069G>T
  • NM_001407620.1:c.4069G>T
  • NM_001407621.1:c.4069G>T
  • NM_001407622.1:c.4069G>T
  • NM_001407623.1:c.4069G>T
  • NM_001407624.1:c.4069G>T
  • NM_001407625.1:c.4069G>T
  • NM_001407626.1:c.4069G>T
  • NM_001407627.1:c.4066G>T
  • NM_001407628.1:c.4066G>T
  • NM_001407629.1:c.4066G>T
  • NM_001407630.1:c.4066G>T
  • NM_001407631.1:c.4066G>T
  • NM_001407632.1:c.4066G>T
  • NM_001407633.1:c.4066G>T
  • NM_001407634.1:c.4066G>T
  • NM_001407635.1:c.4066G>T
  • NM_001407636.1:c.4066G>T
  • NM_001407637.1:c.4066G>T
  • NM_001407638.1:c.4066G>T
  • NM_001407639.1:c.4069G>T
  • NM_001407640.1:c.4069G>T
  • NM_001407641.1:c.4069G>T
  • NM_001407642.1:c.4069G>T
  • NM_001407644.1:c.4066G>T
  • NM_001407645.1:c.4066G>T
  • NM_001407646.1:c.4060G>T
  • NM_001407647.1:c.4060G>T
  • NM_001407648.1:c.3946G>T
  • NM_001407649.1:c.3943G>T
  • NM_001407652.1:c.4069G>T
  • NM_001407653.1:c.3991G>T
  • NM_001407654.1:c.3991G>T
  • NM_001407655.1:c.3991G>T
  • NM_001407656.1:c.3991G>T
  • NM_001407657.1:c.3991G>T
  • NM_001407658.1:c.3991G>T
  • NM_001407659.1:c.3988G>T
  • NM_001407660.1:c.3988G>T
  • NM_001407661.1:c.3988G>T
  • NM_001407662.1:c.3988G>T
  • NM_001407663.1:c.3991G>T
  • NM_001407664.1:c.3946G>T
  • NM_001407665.1:c.3946G>T
  • NM_001407666.1:c.3946G>T
  • NM_001407667.1:c.3946G>T
  • NM_001407668.1:c.3946G>T
  • NM_001407669.1:c.3946G>T
  • NM_001407670.1:c.3943G>T
  • NM_001407671.1:c.3943G>T
  • NM_001407672.1:c.3943G>T
  • NM_001407673.1:c.3943G>T
  • NM_001407674.1:c.3946G>T
  • NM_001407675.1:c.3946G>T
  • NM_001407676.1:c.3946G>T
  • NM_001407677.1:c.3946G>T
  • NM_001407678.1:c.3946G>T
  • NM_001407679.1:c.3946G>T
  • NM_001407680.1:c.3946G>T
  • NM_001407681.1:c.3946G>T
  • NM_001407682.1:c.3946G>T
  • NM_001407683.1:c.3946G>T
  • NM_001407684.1:c.4069G>T
  • NM_001407685.1:c.3943G>T
  • NM_001407686.1:c.3943G>T
  • NM_001407687.1:c.3943G>T
  • NM_001407688.1:c.3943G>T
  • NM_001407689.1:c.3943G>T
  • NM_001407690.1:c.3943G>T
  • NM_001407691.1:c.3943G>T
  • NM_001407692.1:c.3928G>T
  • NM_001407694.1:c.3928G>T
  • NM_001407695.1:c.3928G>T
  • NM_001407696.1:c.3928G>T
  • NM_001407697.1:c.3928G>T
  • NM_001407698.1:c.3928G>T
  • NM_001407724.1:c.3928G>T
  • NM_001407725.1:c.3928G>T
  • NM_001407726.1:c.3928G>T
  • NM_001407727.1:c.3928G>T
  • NM_001407728.1:c.3928G>T
  • NM_001407729.1:c.3928G>T
  • NM_001407730.1:c.3928G>T
  • NM_001407731.1:c.3928G>T
  • NM_001407732.1:c.3928G>T
  • NM_001407733.1:c.3928G>T
  • NM_001407734.1:c.3928G>T
  • NM_001407735.1:c.3928G>T
  • NM_001407736.1:c.3928G>T
  • NM_001407737.1:c.3928G>T
  • NM_001407738.1:c.3928G>T
  • NM_001407739.1:c.3928G>T
  • NM_001407740.1:c.3925G>T
  • NM_001407741.1:c.3925G>T
  • NM_001407742.1:c.3925G>T
  • NM_001407743.1:c.3925G>T
  • NM_001407744.1:c.3925G>T
  • NM_001407745.1:c.3925G>T
  • NM_001407746.1:c.3925G>T
  • NM_001407747.1:c.3925G>T
  • NM_001407748.1:c.3925G>T
  • NM_001407749.1:c.3925G>T
  • NM_001407750.1:c.3928G>T
  • NM_001407751.1:c.3928G>T
  • NM_001407752.1:c.3928G>T
  • NM_001407838.1:c.3925G>T
  • NM_001407839.1:c.3925G>T
  • NM_001407841.1:c.3925G>T
  • NM_001407842.1:c.3925G>T
  • NM_001407843.1:c.3925G>T
  • NM_001407844.1:c.3925G>T
  • NM_001407845.1:c.3925G>T
  • NM_001407846.1:c.3925G>T
  • NM_001407847.1:c.3925G>T
  • NM_001407848.1:c.3925G>T
  • NM_001407849.1:c.3925G>T
  • NM_001407850.1:c.3928G>T
  • NM_001407851.1:c.3928G>T
  • NM_001407852.1:c.3928G>T
  • NM_001407853.1:c.3856G>T
  • NM_001407854.1:c.4069G>T
  • NM_001407858.1:c.4069G>T
  • NM_001407859.1:c.4069G>T
  • NM_001407860.1:c.4066G>T
  • NM_001407861.1:c.4066G>T
  • NM_001407862.1:c.3868G>T
  • NM_001407863.1:c.3946G>T
  • NM_001407874.1:c.3865G>T
  • NM_001407875.1:c.3865G>T
  • NM_001407879.1:c.3859G>T
  • NM_001407881.1:c.3859G>T
  • NM_001407882.1:c.3859G>T
  • NM_001407884.1:c.3859G>T
  • NM_001407885.1:c.3859G>T
  • NM_001407886.1:c.3859G>T
  • NM_001407887.1:c.3859G>T
  • NM_001407889.1:c.3859G>T
  • NM_001407894.1:c.3856G>T
  • NM_001407895.1:c.3856G>T
  • NM_001407896.1:c.3856G>T
  • NM_001407897.1:c.3856G>T
  • NM_001407898.1:c.3856G>T
  • NM_001407899.1:c.3856G>T
  • NM_001407900.1:c.3859G>T
  • NM_001407902.1:c.3859G>T
  • NM_001407904.1:c.3859G>T
  • NM_001407906.1:c.3859G>T
  • NM_001407907.1:c.3859G>T
  • NM_001407908.1:c.3859G>T
  • NM_001407909.1:c.3859G>T
  • NM_001407910.1:c.3859G>T
  • NM_001407915.1:c.3856G>T
  • NM_001407916.1:c.3856G>T
  • NM_001407917.1:c.3856G>T
  • NM_001407918.1:c.3856G>T
  • NM_001407919.1:c.3946G>T
  • NM_001407920.1:c.3805G>T
  • NM_001407921.1:c.3805G>T
  • NM_001407922.1:c.3805G>T
  • NM_001407923.1:c.3805G>T
  • NM_001407924.1:c.3805G>T
  • NM_001407925.1:c.3805G>T
  • NM_001407926.1:c.3805G>T
  • NM_001407927.1:c.3805G>T
  • NM_001407928.1:c.3805G>T
  • NM_001407929.1:c.3805G>T
  • NM_001407930.1:c.3802G>T
  • NM_001407931.1:c.3802G>T
  • NM_001407932.1:c.3802G>T
  • NM_001407933.1:c.3805G>T
  • NM_001407934.1:c.3802G>T
  • NM_001407935.1:c.3805G>T
  • NM_001407936.1:c.3802G>T
  • NM_001407937.1:c.3946G>T
  • NM_001407938.1:c.3946G>T
  • NM_001407939.1:c.3946G>T
  • NM_001407940.1:c.3943G>T
  • NM_001407941.1:c.3943G>T
  • NM_001407942.1:c.3928G>T
  • NM_001407943.1:c.3925G>T
  • NM_001407944.1:c.3928G>T
  • NM_001407945.1:c.3928G>T
  • NM_001407946.1:c.3736G>T
  • NM_001407947.1:c.3736G>T
  • NM_001407948.1:c.3736G>T
  • NM_001407949.1:c.3736G>T
  • NM_001407950.1:c.3736G>T
  • NM_001407951.1:c.3736G>T
  • NM_001407952.1:c.3736G>T
  • NM_001407953.1:c.3736G>T
  • NM_001407954.1:c.3733G>T
  • NM_001407955.1:c.3733G>T
  • NM_001407956.1:c.3733G>T
  • NM_001407957.1:c.3736G>T
  • NM_001407958.1:c.3733G>T
  • NM_001407959.1:c.3688G>T
  • NM_001407960.1:c.3688G>T
  • NM_001407962.1:c.3685G>T
  • NM_001407963.1:c.3688G>T
  • NM_001407964.1:c.3925G>T
  • NM_001407965.1:c.3565G>T
  • NM_001407966.1:c.3181G>T
  • NM_001407967.1:c.3181G>T
  • NM_001407968.1:c.1465G>T
  • NM_001407969.1:c.1465G>T
  • NM_001407970.1:c.788-430G>T
  • NM_001407971.1:c.788-430G>T
  • NM_001407972.1:c.785-430G>T
  • NM_001407973.1:c.788-430G>T
  • NM_001407974.1:c.788-430G>T
  • NM_001407975.1:c.788-430G>T
  • NM_001407976.1:c.788-430G>T
  • NM_001407977.1:c.788-430G>T
  • NM_001407978.1:c.788-430G>T
  • NM_001407979.1:c.788-430G>T
  • NM_001407980.1:c.788-430G>T
  • NM_001407981.1:c.788-430G>T
  • NM_001407982.1:c.788-430G>T
  • NM_001407983.1:c.788-430G>T
  • NM_001407984.1:c.785-430G>T
  • NM_001407985.1:c.785-430G>T
  • NM_001407986.1:c.785-430G>T
  • NM_001407990.1:c.788-430G>T
  • NM_001407991.1:c.785-430G>T
  • NM_001407992.1:c.785-430G>T
  • NM_001407993.1:c.788-430G>T
  • NM_001408392.1:c.785-430G>T
  • NM_001408396.1:c.785-430G>T
  • NM_001408397.1:c.785-430G>T
  • NM_001408398.1:c.785-430G>T
  • NM_001408399.1:c.785-430G>T
  • NM_001408400.1:c.785-430G>T
  • NM_001408401.1:c.785-430G>T
  • NM_001408402.1:c.785-430G>T
  • NM_001408403.1:c.788-430G>T
  • NM_001408404.1:c.788-430G>T
  • NM_001408406.1:c.791-439G>T
  • NM_001408407.1:c.785-430G>T
  • NM_001408408.1:c.779-430G>T
  • NM_001408409.1:c.710-430G>T
  • NM_001408410.1:c.647-430G>T
  • NM_001408411.1:c.710-430G>T
  • NM_001408412.1:c.710-430G>T
  • NM_001408413.1:c.707-430G>T
  • NM_001408414.1:c.710-430G>T
  • NM_001408415.1:c.710-430G>T
  • NM_001408416.1:c.707-430G>T
  • NM_001408418.1:c.671-430G>T
  • NM_001408419.1:c.671-430G>T
  • NM_001408420.1:c.671-430G>T
  • NM_001408421.1:c.668-430G>T
  • NM_001408422.1:c.671-430G>T
  • NM_001408423.1:c.671-430G>T
  • NM_001408424.1:c.668-430G>T
  • NM_001408425.1:c.665-430G>T
  • NM_001408426.1:c.665-430G>T
  • NM_001408427.1:c.665-430G>T
  • NM_001408428.1:c.665-430G>T
  • NM_001408429.1:c.665-430G>T
  • NM_001408430.1:c.665-430G>T
  • NM_001408431.1:c.668-430G>T
  • NM_001408432.1:c.662-430G>T
  • NM_001408433.1:c.662-430G>T
  • NM_001408434.1:c.662-430G>T
  • NM_001408435.1:c.662-430G>T
  • NM_001408436.1:c.665-430G>T
  • NM_001408437.1:c.665-430G>T
  • NM_001408438.1:c.665-430G>T
  • NM_001408439.1:c.665-430G>T
  • NM_001408440.1:c.665-430G>T
  • NM_001408441.1:c.665-430G>T
  • NM_001408442.1:c.665-430G>T
  • NM_001408443.1:c.665-430G>T
  • NM_001408444.1:c.665-430G>T
  • NM_001408445.1:c.662-430G>T
  • NM_001408446.1:c.662-430G>T
  • NM_001408447.1:c.662-430G>T
  • NM_001408448.1:c.662-430G>T
  • NM_001408450.1:c.662-430G>T
  • NM_001408451.1:c.653-430G>T
  • NM_001408452.1:c.647-430G>T
  • NM_001408453.1:c.647-430G>T
  • NM_001408454.1:c.647-430G>T
  • NM_001408455.1:c.647-430G>T
  • NM_001408456.1:c.647-430G>T
  • NM_001408457.1:c.647-430G>T
  • NM_001408458.1:c.647-430G>T
  • NM_001408459.1:c.647-430G>T
  • NM_001408460.1:c.647-430G>T
  • NM_001408461.1:c.647-430G>T
  • NM_001408462.1:c.644-430G>T
  • NM_001408463.1:c.644-430G>T
  • NM_001408464.1:c.644-430G>T
  • NM_001408465.1:c.644-430G>T
  • NM_001408466.1:c.647-430G>T
  • NM_001408467.1:c.647-430G>T
  • NM_001408468.1:c.644-430G>T
  • NM_001408469.1:c.647-430G>T
  • NM_001408470.1:c.644-430G>T
  • NM_001408472.1:c.788-430G>T
  • NM_001408473.1:c.785-430G>T
  • NM_001408474.1:c.587-430G>T
  • NM_001408475.1:c.584-430G>T
  • NM_001408476.1:c.587-430G>T
  • NM_001408478.1:c.578-430G>T
  • NM_001408479.1:c.578-430G>T
  • NM_001408480.1:c.578-430G>T
  • NM_001408481.1:c.578-430G>T
  • NM_001408482.1:c.578-430G>T
  • NM_001408483.1:c.578-430G>T
  • NM_001408484.1:c.578-430G>T
  • NM_001408485.1:c.578-430G>T
  • NM_001408489.1:c.578-430G>T
  • NM_001408490.1:c.575-430G>T
  • NM_001408491.1:c.575-430G>T
  • NM_001408492.1:c.578-430G>T
  • NM_001408493.1:c.575-430G>T
  • NM_001408494.1:c.548-430G>T
  • NM_001408495.1:c.545-430G>T
  • NM_001408496.1:c.524-430G>T
  • NM_001408497.1:c.524-430G>T
  • NM_001408498.1:c.524-430G>T
  • NM_001408499.1:c.524-430G>T
  • NM_001408500.1:c.524-430G>T
  • NM_001408501.1:c.524-430G>T
  • NM_001408502.1:c.455-430G>T
  • NM_001408503.1:c.521-430G>T
  • NM_001408504.1:c.521-430G>T
  • NM_001408505.1:c.521-430G>T
  • NM_001408506.1:c.461-430G>T
  • NM_001408507.1:c.461-430G>T
  • NM_001408508.1:c.452-430G>T
  • NM_001408509.1:c.452-430G>T
  • NM_001408510.1:c.407-430G>T
  • NM_001408511.1:c.404-430G>T
  • NM_001408512.1:c.284-430G>T
  • NM_001408513.1:c.578-430G>T
  • NM_001408514.1:c.578-430G>T
  • NM_007294.4:c.4069G>TMANE SELECT
  • NM_007297.4:c.3928G>T
  • NM_007298.4:c.788-430G>T
  • NM_007299.4:c.788-430G>T
  • NM_007300.4:c.4069G>T
  • NP_001394500.1:p.Glu1286Ter
  • NP_001394510.1:p.Glu1357Ter
  • NP_001394511.1:p.Glu1357Ter
  • NP_001394512.1:p.Glu1357Ter
  • NP_001394514.1:p.Glu1357Ter
  • NP_001394516.1:p.Glu1356Ter
  • NP_001394519.1:p.Glu1356Ter
  • NP_001394520.1:p.Glu1356Ter
  • NP_001394522.1:p.Glu1357Ter
  • NP_001394523.1:p.Glu1357Ter
  • NP_001394525.1:p.Glu1357Ter
  • NP_001394526.1:p.Glu1357Ter
  • NP_001394527.1:p.Glu1357Ter
  • NP_001394531.1:p.Glu1357Ter
  • NP_001394532.1:p.Glu1357Ter
  • NP_001394534.1:p.Glu1357Ter
  • NP_001394539.1:p.Glu1356Ter
  • NP_001394540.1:p.Glu1356Ter
  • NP_001394541.1:p.Glu1356Ter
  • NP_001394542.1:p.Glu1356Ter
  • NP_001394543.1:p.Glu1356Ter
  • NP_001394544.1:p.Glu1356Ter
  • NP_001394545.1:p.Glu1357Ter
  • NP_001394546.1:p.Glu1357Ter
  • NP_001394547.1:p.Glu1357Ter
  • NP_001394548.1:p.Glu1357Ter
  • NP_001394549.1:p.Glu1357Ter
  • NP_001394550.1:p.Glu1357Ter
  • NP_001394551.1:p.Glu1357Ter
  • NP_001394552.1:p.Glu1357Ter
  • NP_001394553.1:p.Glu1357Ter
  • NP_001394554.1:p.Glu1357Ter
  • NP_001394555.1:p.Glu1357Ter
  • NP_001394556.1:p.Glu1356Ter
  • NP_001394557.1:p.Glu1356Ter
  • NP_001394558.1:p.Glu1356Ter
  • NP_001394559.1:p.Glu1356Ter
  • NP_001394560.1:p.Glu1356Ter
  • NP_001394561.1:p.Glu1356Ter
  • NP_001394562.1:p.Glu1356Ter
  • NP_001394563.1:p.Glu1356Ter
  • NP_001394564.1:p.Glu1356Ter
  • NP_001394565.1:p.Glu1356Ter
  • NP_001394566.1:p.Glu1356Ter
  • NP_001394567.1:p.Glu1356Ter
  • NP_001394568.1:p.Glu1357Ter
  • NP_001394569.1:p.Glu1357Ter
  • NP_001394570.1:p.Glu1357Ter
  • NP_001394571.1:p.Glu1357Ter
  • NP_001394573.1:p.Glu1356Ter
  • NP_001394574.1:p.Glu1356Ter
  • NP_001394575.1:p.Glu1354Ter
  • NP_001394576.1:p.Glu1354Ter
  • NP_001394577.1:p.Glu1316Ter
  • NP_001394578.1:p.Glu1315Ter
  • NP_001394581.1:p.Glu1357Ter
  • NP_001394582.1:p.Glu1331Ter
  • NP_001394583.1:p.Glu1331Ter
  • NP_001394584.1:p.Glu1331Ter
  • NP_001394585.1:p.Glu1331Ter
  • NP_001394586.1:p.Glu1331Ter
  • NP_001394587.1:p.Glu1331Ter
  • NP_001394588.1:p.Glu1330Ter
  • NP_001394589.1:p.Glu1330Ter
  • NP_001394590.1:p.Glu1330Ter
  • NP_001394591.1:p.Glu1330Ter
  • NP_001394592.1:p.Glu1331Ter
  • NP_001394593.1:p.Glu1316Ter
  • NP_001394594.1:p.Glu1316Ter
  • NP_001394595.1:p.Glu1316Ter
  • NP_001394596.1:p.Glu1316Ter
  • NP_001394597.1:p.Glu1316Ter
  • NP_001394598.1:p.Glu1316Ter
  • NP_001394599.1:p.Glu1315Ter
  • NP_001394600.1:p.Glu1315Ter
  • NP_001394601.1:p.Glu1315Ter
  • NP_001394602.1:p.Glu1315Ter
  • NP_001394603.1:p.Glu1316Ter
  • NP_001394604.1:p.Glu1316Ter
  • NP_001394605.1:p.Glu1316Ter
  • NP_001394606.1:p.Glu1316Ter
  • NP_001394607.1:p.Glu1316Ter
  • NP_001394608.1:p.Glu1316Ter
  • NP_001394609.1:p.Glu1316Ter
  • NP_001394610.1:p.Glu1316Ter
  • NP_001394611.1:p.Glu1316Ter
  • NP_001394612.1:p.Glu1316Ter
  • NP_001394613.1:p.Glu1357Ter
  • NP_001394614.1:p.Glu1315Ter
  • NP_001394615.1:p.Glu1315Ter
  • NP_001394616.1:p.Glu1315Ter
  • NP_001394617.1:p.Glu1315Ter
  • NP_001394618.1:p.Glu1315Ter
  • NP_001394619.1:p.Glu1315Ter
  • NP_001394620.1:p.Glu1315Ter
  • NP_001394621.1:p.Glu1310Ter
  • NP_001394623.1:p.Glu1310Ter
  • NP_001394624.1:p.Glu1310Ter
  • NP_001394625.1:p.Glu1310Ter
  • NP_001394626.1:p.Glu1310Ter
  • NP_001394627.1:p.Glu1310Ter
  • NP_001394653.1:p.Glu1310Ter
  • NP_001394654.1:p.Glu1310Ter
  • NP_001394655.1:p.Glu1310Ter
  • NP_001394656.1:p.Glu1310Ter
  • NP_001394657.1:p.Glu1310Ter
  • NP_001394658.1:p.Glu1310Ter
  • NP_001394659.1:p.Glu1310Ter
  • NP_001394660.1:p.Glu1310Ter
  • NP_001394661.1:p.Glu1310Ter
  • NP_001394662.1:p.Glu1310Ter
  • NP_001394663.1:p.Glu1310Ter
  • NP_001394664.1:p.Glu1310Ter
  • NP_001394665.1:p.Glu1310Ter
  • NP_001394666.1:p.Glu1310Ter
  • NP_001394667.1:p.Glu1310Ter
  • NP_001394668.1:p.Glu1310Ter
  • NP_001394669.1:p.Glu1309Ter
  • NP_001394670.1:p.Glu1309Ter
  • NP_001394671.1:p.Glu1309Ter
  • NP_001394672.1:p.Glu1309Ter
  • NP_001394673.1:p.Glu1309Ter
  • NP_001394674.1:p.Glu1309Ter
  • NP_001394675.1:p.Glu1309Ter
  • NP_001394676.1:p.Glu1309Ter
  • NP_001394677.1:p.Glu1309Ter
  • NP_001394678.1:p.Glu1309Ter
  • NP_001394679.1:p.Glu1310Ter
  • NP_001394680.1:p.Glu1310Ter
  • NP_001394681.1:p.Glu1310Ter
  • NP_001394767.1:p.Glu1309Ter
  • NP_001394768.1:p.Glu1309Ter
  • NP_001394770.1:p.Glu1309Ter
  • NP_001394771.1:p.Glu1309Ter
  • NP_001394772.1:p.Glu1309Ter
  • NP_001394773.1:p.Glu1309Ter
  • NP_001394774.1:p.Glu1309Ter
  • NP_001394775.1:p.Glu1309Ter
  • NP_001394776.1:p.Glu1309Ter
  • NP_001394777.1:p.Glu1309Ter
  • NP_001394778.1:p.Glu1309Ter
  • NP_001394779.1:p.Glu1310Ter
  • NP_001394780.1:p.Glu1310Ter
  • NP_001394781.1:p.Glu1310Ter
  • NP_001394782.1:p.Glu1286Ter
  • NP_001394783.1:p.Glu1357Ter
  • NP_001394787.1:p.Glu1357Ter
  • NP_001394788.1:p.Glu1357Ter
  • NP_001394789.1:p.Glu1356Ter
  • NP_001394790.1:p.Glu1356Ter
  • NP_001394791.1:p.Glu1290Ter
  • NP_001394792.1:p.Glu1316Ter
  • NP_001394803.1:p.Glu1289Ter
  • NP_001394804.1:p.Glu1289Ter
  • NP_001394808.1:p.Glu1287Ter
  • NP_001394810.1:p.Glu1287Ter
  • NP_001394811.1:p.Glu1287Ter
  • NP_001394813.1:p.Glu1287Ter
  • NP_001394814.1:p.Glu1287Ter
  • NP_001394815.1:p.Glu1287Ter
  • NP_001394816.1:p.Glu1287Ter
  • NP_001394818.1:p.Glu1287Ter
  • NP_001394823.1:p.Glu1286Ter
  • NP_001394824.1:p.Glu1286Ter
  • NP_001394825.1:p.Glu1286Ter
  • NP_001394826.1:p.Glu1286Ter
  • NP_001394827.1:p.Glu1286Ter
  • NP_001394828.1:p.Glu1286Ter
  • NP_001394829.1:p.Glu1287Ter
  • NP_001394831.1:p.Glu1287Ter
  • NP_001394833.1:p.Glu1287Ter
  • NP_001394835.1:p.Glu1287Ter
  • NP_001394836.1:p.Glu1287Ter
  • NP_001394837.1:p.Glu1287Ter
  • NP_001394838.1:p.Glu1287Ter
  • NP_001394839.1:p.Glu1287Ter
  • NP_001394844.1:p.Glu1286Ter
  • NP_001394845.1:p.Glu1286Ter
  • NP_001394846.1:p.Glu1286Ter
  • NP_001394847.1:p.Glu1286Ter
  • NP_001394848.1:p.Glu1316Ter
  • NP_001394849.1:p.Glu1269Ter
  • NP_001394850.1:p.Glu1269Ter
  • NP_001394851.1:p.Glu1269Ter
  • NP_001394852.1:p.Glu1269Ter
  • NP_001394853.1:p.Glu1269Ter
  • NP_001394854.1:p.Glu1269Ter
  • NP_001394855.1:p.Glu1269Ter
  • NP_001394856.1:p.Glu1269Ter
  • NP_001394857.1:p.Glu1269Ter
  • NP_001394858.1:p.Glu1269Ter
  • NP_001394859.1:p.Glu1268Ter
  • NP_001394860.1:p.Glu1268Ter
  • NP_001394861.1:p.Glu1268Ter
  • NP_001394862.1:p.Glu1269Ter
  • NP_001394863.1:p.Glu1268Ter
  • NP_001394864.1:p.Glu1269Ter
  • NP_001394865.1:p.Glu1268Ter
  • NP_001394866.1:p.Glu1316Ter
  • NP_001394867.1:p.Glu1316Ter
  • NP_001394868.1:p.Glu1316Ter
  • NP_001394869.1:p.Glu1315Ter
  • NP_001394870.1:p.Glu1315Ter
  • NP_001394871.1:p.Glu1310Ter
  • NP_001394872.1:p.Glu1309Ter
  • NP_001394873.1:p.Glu1310Ter
  • NP_001394874.1:p.Glu1310Ter
  • NP_001394875.1:p.Glu1246Ter
  • NP_001394876.1:p.Glu1246Ter
  • NP_001394877.1:p.Glu1246Ter
  • NP_001394878.1:p.Glu1246Ter
  • NP_001394879.1:p.Glu1246Ter
  • NP_001394880.1:p.Glu1246Ter
  • NP_001394881.1:p.Glu1246Ter
  • NP_001394882.1:p.Glu1246Ter
  • NP_001394883.1:p.Glu1245Ter
  • NP_001394884.1:p.Glu1245Ter
  • NP_001394885.1:p.Glu1245Ter
  • NP_001394886.1:p.Glu1246Ter
  • NP_001394887.1:p.Glu1245Ter
  • NP_001394888.1:p.Glu1230Ter
  • NP_001394889.1:p.Glu1230Ter
  • NP_001394891.1:p.Glu1229Ter
  • NP_001394892.1:p.Glu1230Ter
  • NP_001394893.1:p.Glu1309Ter
  • NP_001394894.1:p.Glu1189Ter
  • NP_001394895.1:p.Glu1061Ter
  • NP_001394896.1:p.Glu1061Ter
  • NP_001394897.1:p.Glu489Ter
  • NP_001394898.1:p.Glu489Ter
  • NP_009225.1:p.Glu1357Ter
  • NP_009225.1:p.Glu1357Ter
  • NP_009228.2:p.Glu1310Ter
  • NP_009231.2:p.Glu1357Ter
  • LRG_292t1:c.4069G>T
  • LRG_292:g.126522G>T
  • LRG_292p1:p.Glu1357Ter
  • NC_000017.10:g.41243479C>A
  • NM_007294.3:c.4069G>T
  • NR_027676.1:n.4205G>T
  • p.Glu1357X
Protein change:
E1061*
Links:
dbSNP: rs886040195
NCBI 1000 Genomes Browser:
rs886040195
Molecular consequence:
  • NM_001407970.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-439G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-430G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4060G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4060G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3988G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3988G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3988G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3988G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3991G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4066G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3868G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3865G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3865G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3859G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3856G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3805G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3802G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3946G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3943G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3736G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3733G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3688G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3688G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3685G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3688G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3925G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3565G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3181G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3181G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1465G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1465G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3928G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003442379Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 24, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN, Wubbenhorst B, Wenz BM, De Sloover D, Pluta J, Emery L, Barrett A, Kraya AA, Anastopoulos IN, Yu S, Jiang Y, Chen H, Zhang NR, Hackman N, D'Andrea K, Daber R, Morrissette JJD, Mitra N, Feldman M, Domchek SM, Nathanson KL.

Nat Commun. 2017 Aug 22;8(1):319. doi: 10.1038/s41467-017-00388-9.

PubMed [citation]
PMID:
28831036
PMCID:
PMC5567274
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003442379.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu1357*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 28831036). ClinVar contains an entry for this variant (Variation ID: 266437). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024