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NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2020
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:
RCV002321941.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)]

NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)

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.4066C>T (p.Gln1356Ter)
Other names:
4185C>T
HGVS:
  • NC_000017.11:g.43091465G>A
  • NG_005905.2:g.126519C>T
  • NG_087068.1:g.447G>A
  • NM_001407571.1:c.3853C>T
  • NM_001407581.1:c.4066C>T
  • NM_001407582.1:c.4066C>T
  • NM_001407583.1:c.4066C>T
  • NM_001407585.1:c.4066C>T
  • NM_001407587.1:c.4063C>T
  • NM_001407590.1:c.4063C>T
  • NM_001407591.1:c.4063C>T
  • NM_001407593.1:c.4066C>T
  • NM_001407594.1:c.4066C>T
  • NM_001407596.1:c.4066C>T
  • NM_001407597.1:c.4066C>T
  • NM_001407598.1:c.4066C>T
  • NM_001407602.1:c.4066C>T
  • NM_001407603.1:c.4066C>T
  • NM_001407605.1:c.4066C>T
  • NM_001407610.1:c.4063C>T
  • NM_001407611.1:c.4063C>T
  • NM_001407612.1:c.4063C>T
  • NM_001407613.1:c.4063C>T
  • NM_001407614.1:c.4063C>T
  • NM_001407615.1:c.4063C>T
  • NM_001407616.1:c.4066C>T
  • NM_001407617.1:c.4066C>T
  • NM_001407618.1:c.4066C>T
  • NM_001407619.1:c.4066C>T
  • NM_001407620.1:c.4066C>T
  • NM_001407621.1:c.4066C>T
  • NM_001407622.1:c.4066C>T
  • NM_001407623.1:c.4066C>T
  • NM_001407624.1:c.4066C>T
  • NM_001407625.1:c.4066C>T
  • NM_001407626.1:c.4066C>T
  • NM_001407627.1:c.4063C>T
  • NM_001407628.1:c.4063C>T
  • NM_001407629.1:c.4063C>T
  • NM_001407630.1:c.4063C>T
  • NM_001407631.1:c.4063C>T
  • NM_001407632.1:c.4063C>T
  • NM_001407633.1:c.4063C>T
  • NM_001407634.1:c.4063C>T
  • NM_001407635.1:c.4063C>T
  • NM_001407636.1:c.4063C>T
  • NM_001407637.1:c.4063C>T
  • NM_001407638.1:c.4063C>T
  • NM_001407639.1:c.4066C>T
  • NM_001407640.1:c.4066C>T
  • NM_001407641.1:c.4066C>T
  • NM_001407642.1:c.4066C>T
  • NM_001407644.1:c.4063C>T
  • NM_001407645.1:c.4063C>T
  • NM_001407646.1:c.4057C>T
  • NM_001407647.1:c.4057C>T
  • NM_001407648.1:c.3943C>T
  • NM_001407649.1:c.3940C>T
  • NM_001407652.1:c.4066C>T
  • NM_001407653.1:c.3988C>T
  • NM_001407654.1:c.3988C>T
  • NM_001407655.1:c.3988C>T
  • NM_001407656.1:c.3988C>T
  • NM_001407657.1:c.3988C>T
  • NM_001407658.1:c.3988C>T
  • NM_001407659.1:c.3985C>T
  • NM_001407660.1:c.3985C>T
  • NM_001407661.1:c.3985C>T
  • NM_001407662.1:c.3985C>T
  • NM_001407663.1:c.3988C>T
  • NM_001407664.1:c.3943C>T
  • NM_001407665.1:c.3943C>T
  • NM_001407666.1:c.3943C>T
  • NM_001407667.1:c.3943C>T
  • NM_001407668.1:c.3943C>T
  • NM_001407669.1:c.3943C>T
  • NM_001407670.1:c.3940C>T
  • NM_001407671.1:c.3940C>T
  • NM_001407672.1:c.3940C>T
  • NM_001407673.1:c.3940C>T
  • NM_001407674.1:c.3943C>T
  • NM_001407675.1:c.3943C>T
  • NM_001407676.1:c.3943C>T
  • NM_001407677.1:c.3943C>T
  • NM_001407678.1:c.3943C>T
  • NM_001407679.1:c.3943C>T
  • NM_001407680.1:c.3943C>T
  • NM_001407681.1:c.3943C>T
  • NM_001407682.1:c.3943C>T
  • NM_001407683.1:c.3943C>T
  • NM_001407684.1:c.4066C>T
  • NM_001407685.1:c.3940C>T
  • NM_001407686.1:c.3940C>T
  • NM_001407687.1:c.3940C>T
  • NM_001407688.1:c.3940C>T
  • NM_001407689.1:c.3940C>T
  • NM_001407690.1:c.3940C>T
  • NM_001407691.1:c.3940C>T
  • NM_001407692.1:c.3925C>T
  • NM_001407694.1:c.3925C>T
  • NM_001407695.1:c.3925C>T
  • NM_001407696.1:c.3925C>T
  • NM_001407697.1:c.3925C>T
  • NM_001407698.1:c.3925C>T
  • NM_001407724.1:c.3925C>T
  • NM_001407725.1:c.3925C>T
  • NM_001407726.1:c.3925C>T
  • NM_001407727.1:c.3925C>T
  • NM_001407728.1:c.3925C>T
  • NM_001407729.1:c.3925C>T
  • NM_001407730.1:c.3925C>T
  • NM_001407731.1:c.3925C>T
  • NM_001407732.1:c.3925C>T
  • NM_001407733.1:c.3925C>T
  • NM_001407734.1:c.3925C>T
  • NM_001407735.1:c.3925C>T
  • NM_001407736.1:c.3925C>T
  • NM_001407737.1:c.3925C>T
  • NM_001407738.1:c.3925C>T
  • NM_001407739.1:c.3925C>T
  • NM_001407740.1:c.3922C>T
  • NM_001407741.1:c.3922C>T
  • NM_001407742.1:c.3922C>T
  • NM_001407743.1:c.3922C>T
  • NM_001407744.1:c.3922C>T
  • NM_001407745.1:c.3922C>T
  • NM_001407746.1:c.3922C>T
  • NM_001407747.1:c.3922C>T
  • NM_001407748.1:c.3922C>T
  • NM_001407749.1:c.3922C>T
  • NM_001407750.1:c.3925C>T
  • NM_001407751.1:c.3925C>T
  • NM_001407752.1:c.3925C>T
  • NM_001407838.1:c.3922C>T
  • NM_001407839.1:c.3922C>T
  • NM_001407841.1:c.3922C>T
  • NM_001407842.1:c.3922C>T
  • NM_001407843.1:c.3922C>T
  • NM_001407844.1:c.3922C>T
  • NM_001407845.1:c.3922C>T
  • NM_001407846.1:c.3922C>T
  • NM_001407847.1:c.3922C>T
  • NM_001407848.1:c.3922C>T
  • NM_001407849.1:c.3922C>T
  • NM_001407850.1:c.3925C>T
  • NM_001407851.1:c.3925C>T
  • NM_001407852.1:c.3925C>T
  • NM_001407853.1:c.3853C>T
  • NM_001407854.1:c.4066C>T
  • NM_001407858.1:c.4066C>T
  • NM_001407859.1:c.4066C>T
  • NM_001407860.1:c.4063C>T
  • NM_001407861.1:c.4063C>T
  • NM_001407862.1:c.3865C>T
  • NM_001407863.1:c.3943C>T
  • NM_001407874.1:c.3862C>T
  • NM_001407875.1:c.3862C>T
  • NM_001407879.1:c.3856C>T
  • NM_001407881.1:c.3856C>T
  • NM_001407882.1:c.3856C>T
  • NM_001407884.1:c.3856C>T
  • NM_001407885.1:c.3856C>T
  • NM_001407886.1:c.3856C>T
  • NM_001407887.1:c.3856C>T
  • NM_001407889.1:c.3856C>T
  • NM_001407894.1:c.3853C>T
  • NM_001407895.1:c.3853C>T
  • NM_001407896.1:c.3853C>T
  • NM_001407897.1:c.3853C>T
  • NM_001407898.1:c.3853C>T
  • NM_001407899.1:c.3853C>T
  • NM_001407900.1:c.3856C>T
  • NM_001407902.1:c.3856C>T
  • NM_001407904.1:c.3856C>T
  • NM_001407906.1:c.3856C>T
  • NM_001407907.1:c.3856C>T
  • NM_001407908.1:c.3856C>T
  • NM_001407909.1:c.3856C>T
  • NM_001407910.1:c.3856C>T
  • NM_001407915.1:c.3853C>T
  • NM_001407916.1:c.3853C>T
  • NM_001407917.1:c.3853C>T
  • NM_001407918.1:c.3853C>T
  • NM_001407919.1:c.3943C>T
  • NM_001407920.1:c.3802C>T
  • NM_001407921.1:c.3802C>T
  • NM_001407922.1:c.3802C>T
  • NM_001407923.1:c.3802C>T
  • NM_001407924.1:c.3802C>T
  • NM_001407925.1:c.3802C>T
  • NM_001407926.1:c.3802C>T
  • NM_001407927.1:c.3802C>T
  • NM_001407928.1:c.3802C>T
  • NM_001407929.1:c.3802C>T
  • NM_001407930.1:c.3799C>T
  • NM_001407931.1:c.3799C>T
  • NM_001407932.1:c.3799C>T
  • NM_001407933.1:c.3802C>T
  • NM_001407934.1:c.3799C>T
  • NM_001407935.1:c.3802C>T
  • NM_001407936.1:c.3799C>T
  • NM_001407937.1:c.3943C>T
  • NM_001407938.1:c.3943C>T
  • NM_001407939.1:c.3943C>T
  • NM_001407940.1:c.3940C>T
  • NM_001407941.1:c.3940C>T
  • NM_001407942.1:c.3925C>T
  • NM_001407943.1:c.3922C>T
  • NM_001407944.1:c.3925C>T
  • NM_001407945.1:c.3925C>T
  • NM_001407946.1:c.3733C>T
  • NM_001407947.1:c.3733C>T
  • NM_001407948.1:c.3733C>T
  • NM_001407949.1:c.3733C>T
  • NM_001407950.1:c.3733C>T
  • NM_001407951.1:c.3733C>T
  • NM_001407952.1:c.3733C>T
  • NM_001407953.1:c.3733C>T
  • NM_001407954.1:c.3730C>T
  • NM_001407955.1:c.3730C>T
  • NM_001407956.1:c.3730C>T
  • NM_001407957.1:c.3733C>T
  • NM_001407958.1:c.3730C>T
  • NM_001407959.1:c.3685C>T
  • NM_001407960.1:c.3685C>T
  • NM_001407962.1:c.3682C>T
  • NM_001407963.1:c.3685C>T
  • NM_001407964.1:c.3922C>T
  • NM_001407965.1:c.3562C>T
  • NM_001407966.1:c.3178C>T
  • NM_001407967.1:c.3178C>T
  • NM_001407968.1:c.1462C>T
  • NM_001407969.1:c.1462C>T
  • NM_001407970.1:c.788-433C>T
  • NM_001407971.1:c.788-433C>T
  • NM_001407972.1:c.785-433C>T
  • NM_001407973.1:c.788-433C>T
  • NM_001407974.1:c.788-433C>T
  • NM_001407975.1:c.788-433C>T
  • NM_001407976.1:c.788-433C>T
  • NM_001407977.1:c.788-433C>T
  • NM_001407978.1:c.788-433C>T
  • NM_001407979.1:c.788-433C>T
  • NM_001407980.1:c.788-433C>T
  • NM_001407981.1:c.788-433C>T
  • NM_001407982.1:c.788-433C>T
  • NM_001407983.1:c.788-433C>T
  • NM_001407984.1:c.785-433C>T
  • NM_001407985.1:c.785-433C>T
  • NM_001407986.1:c.785-433C>T
  • NM_001407990.1:c.788-433C>T
  • NM_001407991.1:c.785-433C>T
  • NM_001407992.1:c.785-433C>T
  • NM_001407993.1:c.788-433C>T
  • NM_001408392.1:c.785-433C>T
  • NM_001408396.1:c.785-433C>T
  • NM_001408397.1:c.785-433C>T
  • NM_001408398.1:c.785-433C>T
  • NM_001408399.1:c.785-433C>T
  • NM_001408400.1:c.785-433C>T
  • NM_001408401.1:c.785-433C>T
  • NM_001408402.1:c.785-433C>T
  • NM_001408403.1:c.788-433C>T
  • NM_001408404.1:c.788-433C>T
  • NM_001408406.1:c.791-442C>T
  • NM_001408407.1:c.785-433C>T
  • NM_001408408.1:c.779-433C>T
  • NM_001408409.1:c.710-433C>T
  • NM_001408410.1:c.647-433C>T
  • NM_001408411.1:c.710-433C>T
  • NM_001408412.1:c.710-433C>T
  • NM_001408413.1:c.707-433C>T
  • NM_001408414.1:c.710-433C>T
  • NM_001408415.1:c.710-433C>T
  • NM_001408416.1:c.707-433C>T
  • NM_001408418.1:c.671-433C>T
  • NM_001408419.1:c.671-433C>T
  • NM_001408420.1:c.671-433C>T
  • NM_001408421.1:c.668-433C>T
  • NM_001408422.1:c.671-433C>T
  • NM_001408423.1:c.671-433C>T
  • NM_001408424.1:c.668-433C>T
  • NM_001408425.1:c.665-433C>T
  • NM_001408426.1:c.665-433C>T
  • NM_001408427.1:c.665-433C>T
  • NM_001408428.1:c.665-433C>T
  • NM_001408429.1:c.665-433C>T
  • NM_001408430.1:c.665-433C>T
  • NM_001408431.1:c.668-433C>T
  • NM_001408432.1:c.662-433C>T
  • NM_001408433.1:c.662-433C>T
  • NM_001408434.1:c.662-433C>T
  • NM_001408435.1:c.662-433C>T
  • NM_001408436.1:c.665-433C>T
  • NM_001408437.1:c.665-433C>T
  • NM_001408438.1:c.665-433C>T
  • NM_001408439.1:c.665-433C>T
  • NM_001408440.1:c.665-433C>T
  • NM_001408441.1:c.665-433C>T
  • NM_001408442.1:c.665-433C>T
  • NM_001408443.1:c.665-433C>T
  • NM_001408444.1:c.665-433C>T
  • NM_001408445.1:c.662-433C>T
  • NM_001408446.1:c.662-433C>T
  • NM_001408447.1:c.662-433C>T
  • NM_001408448.1:c.662-433C>T
  • NM_001408450.1:c.662-433C>T
  • NM_001408451.1:c.653-433C>T
  • NM_001408452.1:c.647-433C>T
  • NM_001408453.1:c.647-433C>T
  • NM_001408454.1:c.647-433C>T
  • NM_001408455.1:c.647-433C>T
  • NM_001408456.1:c.647-433C>T
  • NM_001408457.1:c.647-433C>T
  • NM_001408458.1:c.647-433C>T
  • NM_001408459.1:c.647-433C>T
  • NM_001408460.1:c.647-433C>T
  • NM_001408461.1:c.647-433C>T
  • NM_001408462.1:c.644-433C>T
  • NM_001408463.1:c.644-433C>T
  • NM_001408464.1:c.644-433C>T
  • NM_001408465.1:c.644-433C>T
  • NM_001408466.1:c.647-433C>T
  • NM_001408467.1:c.647-433C>T
  • NM_001408468.1:c.644-433C>T
  • NM_001408469.1:c.647-433C>T
  • NM_001408470.1:c.644-433C>T
  • NM_001408472.1:c.788-433C>T
  • NM_001408473.1:c.785-433C>T
  • NM_001408474.1:c.587-433C>T
  • NM_001408475.1:c.584-433C>T
  • NM_001408476.1:c.587-433C>T
  • NM_001408478.1:c.578-433C>T
  • NM_001408479.1:c.578-433C>T
  • NM_001408480.1:c.578-433C>T
  • NM_001408481.1:c.578-433C>T
  • NM_001408482.1:c.578-433C>T
  • NM_001408483.1:c.578-433C>T
  • NM_001408484.1:c.578-433C>T
  • NM_001408485.1:c.578-433C>T
  • NM_001408489.1:c.578-433C>T
  • NM_001408490.1:c.575-433C>T
  • NM_001408491.1:c.575-433C>T
  • NM_001408492.1:c.578-433C>T
  • NM_001408493.1:c.575-433C>T
  • NM_001408494.1:c.548-433C>T
  • NM_001408495.1:c.545-433C>T
  • NM_001408496.1:c.524-433C>T
  • NM_001408497.1:c.524-433C>T
  • NM_001408498.1:c.524-433C>T
  • NM_001408499.1:c.524-433C>T
  • NM_001408500.1:c.524-433C>T
  • NM_001408501.1:c.524-433C>T
  • NM_001408502.1:c.455-433C>T
  • NM_001408503.1:c.521-433C>T
  • NM_001408504.1:c.521-433C>T
  • NM_001408505.1:c.521-433C>T
  • NM_001408506.1:c.461-433C>T
  • NM_001408507.1:c.461-433C>T
  • NM_001408508.1:c.452-433C>T
  • NM_001408509.1:c.452-433C>T
  • NM_001408510.1:c.407-433C>T
  • NM_001408511.1:c.404-433C>T
  • NM_001408512.1:c.284-433C>T
  • NM_001408513.1:c.578-433C>T
  • NM_001408514.1:c.578-433C>T
  • NM_007294.4:c.4066C>TMANE SELECT
  • NM_007297.4:c.3925C>T
  • NM_007298.4:c.788-433C>T
  • NM_007299.4:c.788-433C>T
  • NM_007300.4:c.4066C>T
  • NP_001394500.1:p.Gln1285Ter
  • NP_001394510.1:p.Gln1356Ter
  • NP_001394511.1:p.Gln1356Ter
  • NP_001394512.1:p.Gln1356Ter
  • NP_001394514.1:p.Gln1356Ter
  • NP_001394516.1:p.Gln1355Ter
  • NP_001394519.1:p.Gln1355Ter
  • NP_001394520.1:p.Gln1355Ter
  • NP_001394522.1:p.Gln1356Ter
  • NP_001394523.1:p.Gln1356Ter
  • NP_001394525.1:p.Gln1356Ter
  • NP_001394526.1:p.Gln1356Ter
  • NP_001394527.1:p.Gln1356Ter
  • NP_001394531.1:p.Gln1356Ter
  • NP_001394532.1:p.Gln1356Ter
  • NP_001394534.1:p.Gln1356Ter
  • NP_001394539.1:p.Gln1355Ter
  • NP_001394540.1:p.Gln1355Ter
  • NP_001394541.1:p.Gln1355Ter
  • NP_001394542.1:p.Gln1355Ter
  • NP_001394543.1:p.Gln1355Ter
  • NP_001394544.1:p.Gln1355Ter
  • NP_001394545.1:p.Gln1356Ter
  • NP_001394546.1:p.Gln1356Ter
  • NP_001394547.1:p.Gln1356Ter
  • NP_001394548.1:p.Gln1356Ter
  • NP_001394549.1:p.Gln1356Ter
  • NP_001394550.1:p.Gln1356Ter
  • NP_001394551.1:p.Gln1356Ter
  • NP_001394552.1:p.Gln1356Ter
  • NP_001394553.1:p.Gln1356Ter
  • NP_001394554.1:p.Gln1356Ter
  • NP_001394555.1:p.Gln1356Ter
  • NP_001394556.1:p.Gln1355Ter
  • NP_001394557.1:p.Gln1355Ter
  • NP_001394558.1:p.Gln1355Ter
  • NP_001394559.1:p.Gln1355Ter
  • NP_001394560.1:p.Gln1355Ter
  • NP_001394561.1:p.Gln1355Ter
  • NP_001394562.1:p.Gln1355Ter
  • NP_001394563.1:p.Gln1355Ter
  • NP_001394564.1:p.Gln1355Ter
  • NP_001394565.1:p.Gln1355Ter
  • NP_001394566.1:p.Gln1355Ter
  • NP_001394567.1:p.Gln1355Ter
  • NP_001394568.1:p.Gln1356Ter
  • NP_001394569.1:p.Gln1356Ter
  • NP_001394570.1:p.Gln1356Ter
  • NP_001394571.1:p.Gln1356Ter
  • NP_001394573.1:p.Gln1355Ter
  • NP_001394574.1:p.Gln1355Ter
  • NP_001394575.1:p.Gln1353Ter
  • NP_001394576.1:p.Gln1353Ter
  • NP_001394577.1:p.Gln1315Ter
  • NP_001394578.1:p.Gln1314Ter
  • NP_001394581.1:p.Gln1356Ter
  • NP_001394582.1:p.Gln1330Ter
  • NP_001394583.1:p.Gln1330Ter
  • NP_001394584.1:p.Gln1330Ter
  • NP_001394585.1:p.Gln1330Ter
  • NP_001394586.1:p.Gln1330Ter
  • NP_001394587.1:p.Gln1330Ter
  • NP_001394588.1:p.Gln1329Ter
  • NP_001394589.1:p.Gln1329Ter
  • NP_001394590.1:p.Gln1329Ter
  • NP_001394591.1:p.Gln1329Ter
  • NP_001394592.1:p.Gln1330Ter
  • NP_001394593.1:p.Gln1315Ter
  • NP_001394594.1:p.Gln1315Ter
  • NP_001394595.1:p.Gln1315Ter
  • NP_001394596.1:p.Gln1315Ter
  • NP_001394597.1:p.Gln1315Ter
  • NP_001394598.1:p.Gln1315Ter
  • NP_001394599.1:p.Gln1314Ter
  • NP_001394600.1:p.Gln1314Ter
  • NP_001394601.1:p.Gln1314Ter
  • NP_001394602.1:p.Gln1314Ter
  • NP_001394603.1:p.Gln1315Ter
  • NP_001394604.1:p.Gln1315Ter
  • NP_001394605.1:p.Gln1315Ter
  • NP_001394606.1:p.Gln1315Ter
  • NP_001394607.1:p.Gln1315Ter
  • NP_001394608.1:p.Gln1315Ter
  • NP_001394609.1:p.Gln1315Ter
  • NP_001394610.1:p.Gln1315Ter
  • NP_001394611.1:p.Gln1315Ter
  • NP_001394612.1:p.Gln1315Ter
  • NP_001394613.1:p.Gln1356Ter
  • NP_001394614.1:p.Gln1314Ter
  • NP_001394615.1:p.Gln1314Ter
  • NP_001394616.1:p.Gln1314Ter
  • NP_001394617.1:p.Gln1314Ter
  • NP_001394618.1:p.Gln1314Ter
  • NP_001394619.1:p.Gln1314Ter
  • NP_001394620.1:p.Gln1314Ter
  • NP_001394621.1:p.Gln1309Ter
  • NP_001394623.1:p.Gln1309Ter
  • NP_001394624.1:p.Gln1309Ter
  • NP_001394625.1:p.Gln1309Ter
  • NP_001394626.1:p.Gln1309Ter
  • NP_001394627.1:p.Gln1309Ter
  • NP_001394653.1:p.Gln1309Ter
  • NP_001394654.1:p.Gln1309Ter
  • NP_001394655.1:p.Gln1309Ter
  • NP_001394656.1:p.Gln1309Ter
  • NP_001394657.1:p.Gln1309Ter
  • NP_001394658.1:p.Gln1309Ter
  • NP_001394659.1:p.Gln1309Ter
  • NP_001394660.1:p.Gln1309Ter
  • NP_001394661.1:p.Gln1309Ter
  • NP_001394662.1:p.Gln1309Ter
  • NP_001394663.1:p.Gln1309Ter
  • NP_001394664.1:p.Gln1309Ter
  • NP_001394665.1:p.Gln1309Ter
  • NP_001394666.1:p.Gln1309Ter
  • NP_001394667.1:p.Gln1309Ter
  • NP_001394668.1:p.Gln1309Ter
  • NP_001394669.1:p.Gln1308Ter
  • NP_001394670.1:p.Gln1308Ter
  • NP_001394671.1:p.Gln1308Ter
  • NP_001394672.1:p.Gln1308Ter
  • NP_001394673.1:p.Gln1308Ter
  • NP_001394674.1:p.Gln1308Ter
  • NP_001394675.1:p.Gln1308Ter
  • NP_001394676.1:p.Gln1308Ter
  • NP_001394677.1:p.Gln1308Ter
  • NP_001394678.1:p.Gln1308Ter
  • NP_001394679.1:p.Gln1309Ter
  • NP_001394680.1:p.Gln1309Ter
  • NP_001394681.1:p.Gln1309Ter
  • NP_001394767.1:p.Gln1308Ter
  • NP_001394768.1:p.Gln1308Ter
  • NP_001394770.1:p.Gln1308Ter
  • NP_001394771.1:p.Gln1308Ter
  • NP_001394772.1:p.Gln1308Ter
  • NP_001394773.1:p.Gln1308Ter
  • NP_001394774.1:p.Gln1308Ter
  • NP_001394775.1:p.Gln1308Ter
  • NP_001394776.1:p.Gln1308Ter
  • NP_001394777.1:p.Gln1308Ter
  • NP_001394778.1:p.Gln1308Ter
  • NP_001394779.1:p.Gln1309Ter
  • NP_001394780.1:p.Gln1309Ter
  • NP_001394781.1:p.Gln1309Ter
  • NP_001394782.1:p.Gln1285Ter
  • NP_001394783.1:p.Gln1356Ter
  • NP_001394787.1:p.Gln1356Ter
  • NP_001394788.1:p.Gln1356Ter
  • NP_001394789.1:p.Gln1355Ter
  • NP_001394790.1:p.Gln1355Ter
  • NP_001394791.1:p.Gln1289Ter
  • NP_001394792.1:p.Gln1315Ter
  • NP_001394803.1:p.Gln1288Ter
  • NP_001394804.1:p.Gln1288Ter
  • NP_001394808.1:p.Gln1286Ter
  • NP_001394810.1:p.Gln1286Ter
  • NP_001394811.1:p.Gln1286Ter
  • NP_001394813.1:p.Gln1286Ter
  • NP_001394814.1:p.Gln1286Ter
  • NP_001394815.1:p.Gln1286Ter
  • NP_001394816.1:p.Gln1286Ter
  • NP_001394818.1:p.Gln1286Ter
  • NP_001394823.1:p.Gln1285Ter
  • NP_001394824.1:p.Gln1285Ter
  • NP_001394825.1:p.Gln1285Ter
  • NP_001394826.1:p.Gln1285Ter
  • NP_001394827.1:p.Gln1285Ter
  • NP_001394828.1:p.Gln1285Ter
  • NP_001394829.1:p.Gln1286Ter
  • NP_001394831.1:p.Gln1286Ter
  • NP_001394833.1:p.Gln1286Ter
  • NP_001394835.1:p.Gln1286Ter
  • NP_001394836.1:p.Gln1286Ter
  • NP_001394837.1:p.Gln1286Ter
  • NP_001394838.1:p.Gln1286Ter
  • NP_001394839.1:p.Gln1286Ter
  • NP_001394844.1:p.Gln1285Ter
  • NP_001394845.1:p.Gln1285Ter
  • NP_001394846.1:p.Gln1285Ter
  • NP_001394847.1:p.Gln1285Ter
  • NP_001394848.1:p.Gln1315Ter
  • NP_001394849.1:p.Gln1268Ter
  • NP_001394850.1:p.Gln1268Ter
  • NP_001394851.1:p.Gln1268Ter
  • NP_001394852.1:p.Gln1268Ter
  • NP_001394853.1:p.Gln1268Ter
  • NP_001394854.1:p.Gln1268Ter
  • NP_001394855.1:p.Gln1268Ter
  • NP_001394856.1:p.Gln1268Ter
  • NP_001394857.1:p.Gln1268Ter
  • NP_001394858.1:p.Gln1268Ter
  • NP_001394859.1:p.Gln1267Ter
  • NP_001394860.1:p.Gln1267Ter
  • NP_001394861.1:p.Gln1267Ter
  • NP_001394862.1:p.Gln1268Ter
  • NP_001394863.1:p.Gln1267Ter
  • NP_001394864.1:p.Gln1268Ter
  • NP_001394865.1:p.Gln1267Ter
  • NP_001394866.1:p.Gln1315Ter
  • NP_001394867.1:p.Gln1315Ter
  • NP_001394868.1:p.Gln1315Ter
  • NP_001394869.1:p.Gln1314Ter
  • NP_001394870.1:p.Gln1314Ter
  • NP_001394871.1:p.Gln1309Ter
  • NP_001394872.1:p.Gln1308Ter
  • NP_001394873.1:p.Gln1309Ter
  • NP_001394874.1:p.Gln1309Ter
  • NP_001394875.1:p.Gln1245Ter
  • NP_001394876.1:p.Gln1245Ter
  • NP_001394877.1:p.Gln1245Ter
  • NP_001394878.1:p.Gln1245Ter
  • NP_001394879.1:p.Gln1245Ter
  • NP_001394880.1:p.Gln1245Ter
  • NP_001394881.1:p.Gln1245Ter
  • NP_001394882.1:p.Gln1245Ter
  • NP_001394883.1:p.Gln1244Ter
  • NP_001394884.1:p.Gln1244Ter
  • NP_001394885.1:p.Gln1244Ter
  • NP_001394886.1:p.Gln1245Ter
  • NP_001394887.1:p.Gln1244Ter
  • NP_001394888.1:p.Gln1229Ter
  • NP_001394889.1:p.Gln1229Ter
  • NP_001394891.1:p.Gln1228Ter
  • NP_001394892.1:p.Gln1229Ter
  • NP_001394893.1:p.Gln1308Ter
  • NP_001394894.1:p.Gln1188Ter
  • NP_001394895.1:p.Gln1060Ter
  • NP_001394896.1:p.Gln1060Ter
  • NP_001394897.1:p.Gln488Ter
  • NP_001394898.1:p.Gln488Ter
  • NP_009225.1:p.Gln1356Ter
  • NP_009225.1:p.Gln1356Ter
  • NP_009228.2:p.Gln1309Ter
  • NP_009231.2:p.Gln1356Ter
  • LRG_292t1:c.4066C>T
  • LRG_292:g.126519C>T
  • LRG_292p1:p.Gln1356Ter
  • NC_000017.10:g.41243482G>A
  • NM_007294.3:c.4066C>T
  • NR_027676.1:n.4202C>T
  • p.Gln1356X
Protein change:
Q1060*
Links:
dbSNP: rs886040193
NCBI 1000 Genomes Browser:
rs886040193
Molecular consequence:
  • NM_001407970.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-442C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-433C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3985C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3988C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3862C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3856C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3853C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3799C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3940C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3733C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3730C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3685C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3685C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3682C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3685C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3922C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3562C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3178C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3178C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1462C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1462C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3925C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4066C>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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002632505Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 10, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, Zhuang ZG, Cao AY, Ling H, Yu KD, Li S, Sun MH, Zhou XY, Huang W, Shao ZM.

Int J Cancer. 2017 Jul 1;141(1):129-142. doi: 10.1002/ijc.30692. Epub 2017 Apr 25.

PubMed [citation]
PMID:
28294317

Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.

Li G, Guo X, Tang L, Chen M, Luo X, Peng L, Xu X, Wang S, Xiao Z, Yi W, Dai L, Wang J.

J Cancer Res Clin Oncol. 2017 Oct;143(10):2011-2024. doi: 10.1007/s00432-017-2465-8. Epub 2017 Jun 29.

PubMed [citation]
PMID:
28664449
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002632505.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.Q1356* variant (also known as c.4066C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4066. This changes the amino acid from a glutamine to a stop codon within coding exon 9. In one study, this mutation was identified in 1/2991 Chinese breast cancer patients and was not detected in 1043 healthy controls (Lang GT et al. Int. J. Cancer, 2017 07;141:129-142). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). 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.

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

Last Updated: Nov 3, 2024