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NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2022
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:
RCV003584586.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)]

NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)

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.4042G>T (p.Gly1348Ter)
Other names:
4161G>T
HGVS:
  • NC_000017.11:g.43091489C>A
  • NG_005905.2:g.126495G>T
  • NG_087068.1:g.471C>A
  • NM_001407571.1:c.3829G>T
  • NM_001407581.1:c.4042G>T
  • NM_001407582.1:c.4042G>T
  • NM_001407583.1:c.4042G>T
  • NM_001407585.1:c.4042G>T
  • NM_001407587.1:c.4039G>T
  • NM_001407590.1:c.4039G>T
  • NM_001407591.1:c.4039G>T
  • NM_001407593.1:c.4042G>T
  • NM_001407594.1:c.4042G>T
  • NM_001407596.1:c.4042G>T
  • NM_001407597.1:c.4042G>T
  • NM_001407598.1:c.4042G>T
  • NM_001407602.1:c.4042G>T
  • NM_001407603.1:c.4042G>T
  • NM_001407605.1:c.4042G>T
  • NM_001407610.1:c.4039G>T
  • NM_001407611.1:c.4039G>T
  • NM_001407612.1:c.4039G>T
  • NM_001407613.1:c.4039G>T
  • NM_001407614.1:c.4039G>T
  • NM_001407615.1:c.4039G>T
  • NM_001407616.1:c.4042G>T
  • NM_001407617.1:c.4042G>T
  • NM_001407618.1:c.4042G>T
  • NM_001407619.1:c.4042G>T
  • NM_001407620.1:c.4042G>T
  • NM_001407621.1:c.4042G>T
  • NM_001407622.1:c.4042G>T
  • NM_001407623.1:c.4042G>T
  • NM_001407624.1:c.4042G>T
  • NM_001407625.1:c.4042G>T
  • NM_001407626.1:c.4042G>T
  • NM_001407627.1:c.4039G>T
  • NM_001407628.1:c.4039G>T
  • NM_001407629.1:c.4039G>T
  • NM_001407630.1:c.4039G>T
  • NM_001407631.1:c.4039G>T
  • NM_001407632.1:c.4039G>T
  • NM_001407633.1:c.4039G>T
  • NM_001407634.1:c.4039G>T
  • NM_001407635.1:c.4039G>T
  • NM_001407636.1:c.4039G>T
  • NM_001407637.1:c.4039G>T
  • NM_001407638.1:c.4039G>T
  • NM_001407639.1:c.4042G>T
  • NM_001407640.1:c.4042G>T
  • NM_001407641.1:c.4042G>T
  • NM_001407642.1:c.4042G>T
  • NM_001407644.1:c.4039G>T
  • NM_001407645.1:c.4039G>T
  • NM_001407646.1:c.4033G>T
  • NM_001407647.1:c.4033G>T
  • NM_001407648.1:c.3919G>T
  • NM_001407649.1:c.3916G>T
  • NM_001407652.1:c.4042G>T
  • NM_001407653.1:c.3964G>T
  • NM_001407654.1:c.3964G>T
  • NM_001407655.1:c.3964G>T
  • NM_001407656.1:c.3964G>T
  • NM_001407657.1:c.3964G>T
  • NM_001407658.1:c.3964G>T
  • NM_001407659.1:c.3961G>T
  • NM_001407660.1:c.3961G>T
  • NM_001407661.1:c.3961G>T
  • NM_001407662.1:c.3961G>T
  • NM_001407663.1:c.3964G>T
  • NM_001407664.1:c.3919G>T
  • NM_001407665.1:c.3919G>T
  • NM_001407666.1:c.3919G>T
  • NM_001407667.1:c.3919G>T
  • NM_001407668.1:c.3919G>T
  • NM_001407669.1:c.3919G>T
  • NM_001407670.1:c.3916G>T
  • NM_001407671.1:c.3916G>T
  • NM_001407672.1:c.3916G>T
  • NM_001407673.1:c.3916G>T
  • NM_001407674.1:c.3919G>T
  • NM_001407675.1:c.3919G>T
  • NM_001407676.1:c.3919G>T
  • NM_001407677.1:c.3919G>T
  • NM_001407678.1:c.3919G>T
  • NM_001407679.1:c.3919G>T
  • NM_001407680.1:c.3919G>T
  • NM_001407681.1:c.3919G>T
  • NM_001407682.1:c.3919G>T
  • NM_001407683.1:c.3919G>T
  • NM_001407684.1:c.4042G>T
  • NM_001407685.1:c.3916G>T
  • NM_001407686.1:c.3916G>T
  • NM_001407687.1:c.3916G>T
  • NM_001407688.1:c.3916G>T
  • NM_001407689.1:c.3916G>T
  • NM_001407690.1:c.3916G>T
  • NM_001407691.1:c.3916G>T
  • NM_001407692.1:c.3901G>T
  • NM_001407694.1:c.3901G>T
  • NM_001407695.1:c.3901G>T
  • NM_001407696.1:c.3901G>T
  • NM_001407697.1:c.3901G>T
  • NM_001407698.1:c.3901G>T
  • NM_001407724.1:c.3901G>T
  • NM_001407725.1:c.3901G>T
  • NM_001407726.1:c.3901G>T
  • NM_001407727.1:c.3901G>T
  • NM_001407728.1:c.3901G>T
  • NM_001407729.1:c.3901G>T
  • NM_001407730.1:c.3901G>T
  • NM_001407731.1:c.3901G>T
  • NM_001407732.1:c.3901G>T
  • NM_001407733.1:c.3901G>T
  • NM_001407734.1:c.3901G>T
  • NM_001407735.1:c.3901G>T
  • NM_001407736.1:c.3901G>T
  • NM_001407737.1:c.3901G>T
  • NM_001407738.1:c.3901G>T
  • NM_001407739.1:c.3901G>T
  • NM_001407740.1:c.3898G>T
  • NM_001407741.1:c.3898G>T
  • NM_001407742.1:c.3898G>T
  • NM_001407743.1:c.3898G>T
  • NM_001407744.1:c.3898G>T
  • NM_001407745.1:c.3898G>T
  • NM_001407746.1:c.3898G>T
  • NM_001407747.1:c.3898G>T
  • NM_001407748.1:c.3898G>T
  • NM_001407749.1:c.3898G>T
  • NM_001407750.1:c.3901G>T
  • NM_001407751.1:c.3901G>T
  • NM_001407752.1:c.3901G>T
  • NM_001407838.1:c.3898G>T
  • NM_001407839.1:c.3898G>T
  • NM_001407841.1:c.3898G>T
  • NM_001407842.1:c.3898G>T
  • NM_001407843.1:c.3898G>T
  • NM_001407844.1:c.3898G>T
  • NM_001407845.1:c.3898G>T
  • NM_001407846.1:c.3898G>T
  • NM_001407847.1:c.3898G>T
  • NM_001407848.1:c.3898G>T
  • NM_001407849.1:c.3898G>T
  • NM_001407850.1:c.3901G>T
  • NM_001407851.1:c.3901G>T
  • NM_001407852.1:c.3901G>T
  • NM_001407853.1:c.3829G>T
  • NM_001407854.1:c.4042G>T
  • NM_001407858.1:c.4042G>T
  • NM_001407859.1:c.4042G>T
  • NM_001407860.1:c.4039G>T
  • NM_001407861.1:c.4039G>T
  • NM_001407862.1:c.3841G>T
  • NM_001407863.1:c.3919G>T
  • NM_001407874.1:c.3838G>T
  • NM_001407875.1:c.3838G>T
  • NM_001407879.1:c.3832G>T
  • NM_001407881.1:c.3832G>T
  • NM_001407882.1:c.3832G>T
  • NM_001407884.1:c.3832G>T
  • NM_001407885.1:c.3832G>T
  • NM_001407886.1:c.3832G>T
  • NM_001407887.1:c.3832G>T
  • NM_001407889.1:c.3832G>T
  • NM_001407894.1:c.3829G>T
  • NM_001407895.1:c.3829G>T
  • NM_001407896.1:c.3829G>T
  • NM_001407897.1:c.3829G>T
  • NM_001407898.1:c.3829G>T
  • NM_001407899.1:c.3829G>T
  • NM_001407900.1:c.3832G>T
  • NM_001407902.1:c.3832G>T
  • NM_001407904.1:c.3832G>T
  • NM_001407906.1:c.3832G>T
  • NM_001407907.1:c.3832G>T
  • NM_001407908.1:c.3832G>T
  • NM_001407909.1:c.3832G>T
  • NM_001407910.1:c.3832G>T
  • NM_001407915.1:c.3829G>T
  • NM_001407916.1:c.3829G>T
  • NM_001407917.1:c.3829G>T
  • NM_001407918.1:c.3829G>T
  • NM_001407919.1:c.3919G>T
  • NM_001407920.1:c.3778G>T
  • NM_001407921.1:c.3778G>T
  • NM_001407922.1:c.3778G>T
  • NM_001407923.1:c.3778G>T
  • NM_001407924.1:c.3778G>T
  • NM_001407925.1:c.3778G>T
  • NM_001407926.1:c.3778G>T
  • NM_001407927.1:c.3778G>T
  • NM_001407928.1:c.3778G>T
  • NM_001407929.1:c.3778G>T
  • NM_001407930.1:c.3775G>T
  • NM_001407931.1:c.3775G>T
  • NM_001407932.1:c.3775G>T
  • NM_001407933.1:c.3778G>T
  • NM_001407934.1:c.3775G>T
  • NM_001407935.1:c.3778G>T
  • NM_001407936.1:c.3775G>T
  • NM_001407937.1:c.3919G>T
  • NM_001407938.1:c.3919G>T
  • NM_001407939.1:c.3919G>T
  • NM_001407940.1:c.3916G>T
  • NM_001407941.1:c.3916G>T
  • NM_001407942.1:c.3901G>T
  • NM_001407943.1:c.3898G>T
  • NM_001407944.1:c.3901G>T
  • NM_001407945.1:c.3901G>T
  • NM_001407946.1:c.3709G>T
  • NM_001407947.1:c.3709G>T
  • NM_001407948.1:c.3709G>T
  • NM_001407949.1:c.3709G>T
  • NM_001407950.1:c.3709G>T
  • NM_001407951.1:c.3709G>T
  • NM_001407952.1:c.3709G>T
  • NM_001407953.1:c.3709G>T
  • NM_001407954.1:c.3706G>T
  • NM_001407955.1:c.3706G>T
  • NM_001407956.1:c.3706G>T
  • NM_001407957.1:c.3709G>T
  • NM_001407958.1:c.3706G>T
  • NM_001407959.1:c.3661G>T
  • NM_001407960.1:c.3661G>T
  • NM_001407962.1:c.3658G>T
  • NM_001407963.1:c.3661G>T
  • NM_001407964.1:c.3898G>T
  • NM_001407965.1:c.3538G>T
  • NM_001407966.1:c.3154G>T
  • NM_001407967.1:c.3154G>T
  • NM_001407968.1:c.1438G>T
  • NM_001407969.1:c.1438G>T
  • NM_001407970.1:c.788-457G>T
  • NM_001407971.1:c.788-457G>T
  • NM_001407972.1:c.785-457G>T
  • NM_001407973.1:c.788-457G>T
  • NM_001407974.1:c.788-457G>T
  • NM_001407975.1:c.788-457G>T
  • NM_001407976.1:c.788-457G>T
  • NM_001407977.1:c.788-457G>T
  • NM_001407978.1:c.788-457G>T
  • NM_001407979.1:c.788-457G>T
  • NM_001407980.1:c.788-457G>T
  • NM_001407981.1:c.788-457G>T
  • NM_001407982.1:c.788-457G>T
  • NM_001407983.1:c.788-457G>T
  • NM_001407984.1:c.785-457G>T
  • NM_001407985.1:c.785-457G>T
  • NM_001407986.1:c.785-457G>T
  • NM_001407990.1:c.788-457G>T
  • NM_001407991.1:c.785-457G>T
  • NM_001407992.1:c.785-457G>T
  • NM_001407993.1:c.788-457G>T
  • NM_001408392.1:c.785-457G>T
  • NM_001408396.1:c.785-457G>T
  • NM_001408397.1:c.785-457G>T
  • NM_001408398.1:c.785-457G>T
  • NM_001408399.1:c.785-457G>T
  • NM_001408400.1:c.785-457G>T
  • NM_001408401.1:c.785-457G>T
  • NM_001408402.1:c.785-457G>T
  • NM_001408403.1:c.788-457G>T
  • NM_001408404.1:c.788-457G>T
  • NM_001408406.1:c.791-466G>T
  • NM_001408407.1:c.785-457G>T
  • NM_001408408.1:c.779-457G>T
  • NM_001408409.1:c.710-457G>T
  • NM_001408410.1:c.647-457G>T
  • NM_001408411.1:c.710-457G>T
  • NM_001408412.1:c.710-457G>T
  • NM_001408413.1:c.707-457G>T
  • NM_001408414.1:c.710-457G>T
  • NM_001408415.1:c.710-457G>T
  • NM_001408416.1:c.707-457G>T
  • NM_001408418.1:c.671-457G>T
  • NM_001408419.1:c.671-457G>T
  • NM_001408420.1:c.671-457G>T
  • NM_001408421.1:c.668-457G>T
  • NM_001408422.1:c.671-457G>T
  • NM_001408423.1:c.671-457G>T
  • NM_001408424.1:c.668-457G>T
  • NM_001408425.1:c.665-457G>T
  • NM_001408426.1:c.665-457G>T
  • NM_001408427.1:c.665-457G>T
  • NM_001408428.1:c.665-457G>T
  • NM_001408429.1:c.665-457G>T
  • NM_001408430.1:c.665-457G>T
  • NM_001408431.1:c.668-457G>T
  • NM_001408432.1:c.662-457G>T
  • NM_001408433.1:c.662-457G>T
  • NM_001408434.1:c.662-457G>T
  • NM_001408435.1:c.662-457G>T
  • NM_001408436.1:c.665-457G>T
  • NM_001408437.1:c.665-457G>T
  • NM_001408438.1:c.665-457G>T
  • NM_001408439.1:c.665-457G>T
  • NM_001408440.1:c.665-457G>T
  • NM_001408441.1:c.665-457G>T
  • NM_001408442.1:c.665-457G>T
  • NM_001408443.1:c.665-457G>T
  • NM_001408444.1:c.665-457G>T
  • NM_001408445.1:c.662-457G>T
  • NM_001408446.1:c.662-457G>T
  • NM_001408447.1:c.662-457G>T
  • NM_001408448.1:c.662-457G>T
  • NM_001408450.1:c.662-457G>T
  • NM_001408451.1:c.653-457G>T
  • NM_001408452.1:c.647-457G>T
  • NM_001408453.1:c.647-457G>T
  • NM_001408454.1:c.647-457G>T
  • NM_001408455.1:c.647-457G>T
  • NM_001408456.1:c.647-457G>T
  • NM_001408457.1:c.647-457G>T
  • NM_001408458.1:c.647-457G>T
  • NM_001408459.1:c.647-457G>T
  • NM_001408460.1:c.647-457G>T
  • NM_001408461.1:c.647-457G>T
  • NM_001408462.1:c.644-457G>T
  • NM_001408463.1:c.644-457G>T
  • NM_001408464.1:c.644-457G>T
  • NM_001408465.1:c.644-457G>T
  • NM_001408466.1:c.647-457G>T
  • NM_001408467.1:c.647-457G>T
  • NM_001408468.1:c.644-457G>T
  • NM_001408469.1:c.647-457G>T
  • NM_001408470.1:c.644-457G>T
  • NM_001408472.1:c.788-457G>T
  • NM_001408473.1:c.785-457G>T
  • NM_001408474.1:c.587-457G>T
  • NM_001408475.1:c.584-457G>T
  • NM_001408476.1:c.587-457G>T
  • NM_001408478.1:c.578-457G>T
  • NM_001408479.1:c.578-457G>T
  • NM_001408480.1:c.578-457G>T
  • NM_001408481.1:c.578-457G>T
  • NM_001408482.1:c.578-457G>T
  • NM_001408483.1:c.578-457G>T
  • NM_001408484.1:c.578-457G>T
  • NM_001408485.1:c.578-457G>T
  • NM_001408489.1:c.578-457G>T
  • NM_001408490.1:c.575-457G>T
  • NM_001408491.1:c.575-457G>T
  • NM_001408492.1:c.578-457G>T
  • NM_001408493.1:c.575-457G>T
  • NM_001408494.1:c.548-457G>T
  • NM_001408495.1:c.545-457G>T
  • NM_001408496.1:c.524-457G>T
  • NM_001408497.1:c.524-457G>T
  • NM_001408498.1:c.524-457G>T
  • NM_001408499.1:c.524-457G>T
  • NM_001408500.1:c.524-457G>T
  • NM_001408501.1:c.524-457G>T
  • NM_001408502.1:c.455-457G>T
  • NM_001408503.1:c.521-457G>T
  • NM_001408504.1:c.521-457G>T
  • NM_001408505.1:c.521-457G>T
  • NM_001408506.1:c.461-457G>T
  • NM_001408507.1:c.461-457G>T
  • NM_001408508.1:c.452-457G>T
  • NM_001408509.1:c.452-457G>T
  • NM_001408510.1:c.407-457G>T
  • NM_001408511.1:c.404-457G>T
  • NM_001408512.1:c.284-457G>T
  • NM_001408513.1:c.578-457G>T
  • NM_001408514.1:c.578-457G>T
  • NM_007294.4:c.4042G>TMANE SELECT
  • NM_007297.4:c.3901G>T
  • NM_007298.4:c.788-457G>T
  • NM_007299.4:c.788-457G>T
  • NM_007300.4:c.4042G>T
  • NP_001394500.1:p.Gly1277Ter
  • NP_001394510.1:p.Gly1348Ter
  • NP_001394511.1:p.Gly1348Ter
  • NP_001394512.1:p.Gly1348Ter
  • NP_001394514.1:p.Gly1348Ter
  • NP_001394516.1:p.Gly1347Ter
  • NP_001394519.1:p.Gly1347Ter
  • NP_001394520.1:p.Gly1347Ter
  • NP_001394522.1:p.Gly1348Ter
  • NP_001394523.1:p.Gly1348Ter
  • NP_001394525.1:p.Gly1348Ter
  • NP_001394526.1:p.Gly1348Ter
  • NP_001394527.1:p.Gly1348Ter
  • NP_001394531.1:p.Gly1348Ter
  • NP_001394532.1:p.Gly1348Ter
  • NP_001394534.1:p.Gly1348Ter
  • NP_001394539.1:p.Gly1347Ter
  • NP_001394540.1:p.Gly1347Ter
  • NP_001394541.1:p.Gly1347Ter
  • NP_001394542.1:p.Gly1347Ter
  • NP_001394543.1:p.Gly1347Ter
  • NP_001394544.1:p.Gly1347Ter
  • NP_001394545.1:p.Gly1348Ter
  • NP_001394546.1:p.Gly1348Ter
  • NP_001394547.1:p.Gly1348Ter
  • NP_001394548.1:p.Gly1348Ter
  • NP_001394549.1:p.Gly1348Ter
  • NP_001394550.1:p.Gly1348Ter
  • NP_001394551.1:p.Gly1348Ter
  • NP_001394552.1:p.Gly1348Ter
  • NP_001394553.1:p.Gly1348Ter
  • NP_001394554.1:p.Gly1348Ter
  • NP_001394555.1:p.Gly1348Ter
  • NP_001394556.1:p.Gly1347Ter
  • NP_001394557.1:p.Gly1347Ter
  • NP_001394558.1:p.Gly1347Ter
  • NP_001394559.1:p.Gly1347Ter
  • NP_001394560.1:p.Gly1347Ter
  • NP_001394561.1:p.Gly1347Ter
  • NP_001394562.1:p.Gly1347Ter
  • NP_001394563.1:p.Gly1347Ter
  • NP_001394564.1:p.Gly1347Ter
  • NP_001394565.1:p.Gly1347Ter
  • NP_001394566.1:p.Gly1347Ter
  • NP_001394567.1:p.Gly1347Ter
  • NP_001394568.1:p.Gly1348Ter
  • NP_001394569.1:p.Gly1348Ter
  • NP_001394570.1:p.Gly1348Ter
  • NP_001394571.1:p.Gly1348Ter
  • NP_001394573.1:p.Gly1347Ter
  • NP_001394574.1:p.Gly1347Ter
  • NP_001394575.1:p.Gly1345Ter
  • NP_001394576.1:p.Gly1345Ter
  • NP_001394577.1:p.Gly1307Ter
  • NP_001394578.1:p.Gly1306Ter
  • NP_001394581.1:p.Gly1348Ter
  • NP_001394582.1:p.Gly1322Ter
  • NP_001394583.1:p.Gly1322Ter
  • NP_001394584.1:p.Gly1322Ter
  • NP_001394585.1:p.Gly1322Ter
  • NP_001394586.1:p.Gly1322Ter
  • NP_001394587.1:p.Gly1322Ter
  • NP_001394588.1:p.Gly1321Ter
  • NP_001394589.1:p.Gly1321Ter
  • NP_001394590.1:p.Gly1321Ter
  • NP_001394591.1:p.Gly1321Ter
  • NP_001394592.1:p.Gly1322Ter
  • NP_001394593.1:p.Gly1307Ter
  • NP_001394594.1:p.Gly1307Ter
  • NP_001394595.1:p.Gly1307Ter
  • NP_001394596.1:p.Gly1307Ter
  • NP_001394597.1:p.Gly1307Ter
  • NP_001394598.1:p.Gly1307Ter
  • NP_001394599.1:p.Gly1306Ter
  • NP_001394600.1:p.Gly1306Ter
  • NP_001394601.1:p.Gly1306Ter
  • NP_001394602.1:p.Gly1306Ter
  • NP_001394603.1:p.Gly1307Ter
  • NP_001394604.1:p.Gly1307Ter
  • NP_001394605.1:p.Gly1307Ter
  • NP_001394606.1:p.Gly1307Ter
  • NP_001394607.1:p.Gly1307Ter
  • NP_001394608.1:p.Gly1307Ter
  • NP_001394609.1:p.Gly1307Ter
  • NP_001394610.1:p.Gly1307Ter
  • NP_001394611.1:p.Gly1307Ter
  • NP_001394612.1:p.Gly1307Ter
  • NP_001394613.1:p.Gly1348Ter
  • NP_001394614.1:p.Gly1306Ter
  • NP_001394615.1:p.Gly1306Ter
  • NP_001394616.1:p.Gly1306Ter
  • NP_001394617.1:p.Gly1306Ter
  • NP_001394618.1:p.Gly1306Ter
  • NP_001394619.1:p.Gly1306Ter
  • NP_001394620.1:p.Gly1306Ter
  • NP_001394621.1:p.Gly1301Ter
  • NP_001394623.1:p.Gly1301Ter
  • NP_001394624.1:p.Gly1301Ter
  • NP_001394625.1:p.Gly1301Ter
  • NP_001394626.1:p.Gly1301Ter
  • NP_001394627.1:p.Gly1301Ter
  • NP_001394653.1:p.Gly1301Ter
  • NP_001394654.1:p.Gly1301Ter
  • NP_001394655.1:p.Gly1301Ter
  • NP_001394656.1:p.Gly1301Ter
  • NP_001394657.1:p.Gly1301Ter
  • NP_001394658.1:p.Gly1301Ter
  • NP_001394659.1:p.Gly1301Ter
  • NP_001394660.1:p.Gly1301Ter
  • NP_001394661.1:p.Gly1301Ter
  • NP_001394662.1:p.Gly1301Ter
  • NP_001394663.1:p.Gly1301Ter
  • NP_001394664.1:p.Gly1301Ter
  • NP_001394665.1:p.Gly1301Ter
  • NP_001394666.1:p.Gly1301Ter
  • NP_001394667.1:p.Gly1301Ter
  • NP_001394668.1:p.Gly1301Ter
  • NP_001394669.1:p.Gly1300Ter
  • NP_001394670.1:p.Gly1300Ter
  • NP_001394671.1:p.Gly1300Ter
  • NP_001394672.1:p.Gly1300Ter
  • NP_001394673.1:p.Gly1300Ter
  • NP_001394674.1:p.Gly1300Ter
  • NP_001394675.1:p.Gly1300Ter
  • NP_001394676.1:p.Gly1300Ter
  • NP_001394677.1:p.Gly1300Ter
  • NP_001394678.1:p.Gly1300Ter
  • NP_001394679.1:p.Gly1301Ter
  • NP_001394680.1:p.Gly1301Ter
  • NP_001394681.1:p.Gly1301Ter
  • NP_001394767.1:p.Gly1300Ter
  • NP_001394768.1:p.Gly1300Ter
  • NP_001394770.1:p.Gly1300Ter
  • NP_001394771.1:p.Gly1300Ter
  • NP_001394772.1:p.Gly1300Ter
  • NP_001394773.1:p.Gly1300Ter
  • NP_001394774.1:p.Gly1300Ter
  • NP_001394775.1:p.Gly1300Ter
  • NP_001394776.1:p.Gly1300Ter
  • NP_001394777.1:p.Gly1300Ter
  • NP_001394778.1:p.Gly1300Ter
  • NP_001394779.1:p.Gly1301Ter
  • NP_001394780.1:p.Gly1301Ter
  • NP_001394781.1:p.Gly1301Ter
  • NP_001394782.1:p.Gly1277Ter
  • NP_001394783.1:p.Gly1348Ter
  • NP_001394787.1:p.Gly1348Ter
  • NP_001394788.1:p.Gly1348Ter
  • NP_001394789.1:p.Gly1347Ter
  • NP_001394790.1:p.Gly1347Ter
  • NP_001394791.1:p.Gly1281Ter
  • NP_001394792.1:p.Gly1307Ter
  • NP_001394803.1:p.Gly1280Ter
  • NP_001394804.1:p.Gly1280Ter
  • NP_001394808.1:p.Gly1278Ter
  • NP_001394810.1:p.Gly1278Ter
  • NP_001394811.1:p.Gly1278Ter
  • NP_001394813.1:p.Gly1278Ter
  • NP_001394814.1:p.Gly1278Ter
  • NP_001394815.1:p.Gly1278Ter
  • NP_001394816.1:p.Gly1278Ter
  • NP_001394818.1:p.Gly1278Ter
  • NP_001394823.1:p.Gly1277Ter
  • NP_001394824.1:p.Gly1277Ter
  • NP_001394825.1:p.Gly1277Ter
  • NP_001394826.1:p.Gly1277Ter
  • NP_001394827.1:p.Gly1277Ter
  • NP_001394828.1:p.Gly1277Ter
  • NP_001394829.1:p.Gly1278Ter
  • NP_001394831.1:p.Gly1278Ter
  • NP_001394833.1:p.Gly1278Ter
  • NP_001394835.1:p.Gly1278Ter
  • NP_001394836.1:p.Gly1278Ter
  • NP_001394837.1:p.Gly1278Ter
  • NP_001394838.1:p.Gly1278Ter
  • NP_001394839.1:p.Gly1278Ter
  • NP_001394844.1:p.Gly1277Ter
  • NP_001394845.1:p.Gly1277Ter
  • NP_001394846.1:p.Gly1277Ter
  • NP_001394847.1:p.Gly1277Ter
  • NP_001394848.1:p.Gly1307Ter
  • NP_001394849.1:p.Gly1260Ter
  • NP_001394850.1:p.Gly1260Ter
  • NP_001394851.1:p.Gly1260Ter
  • NP_001394852.1:p.Gly1260Ter
  • NP_001394853.1:p.Gly1260Ter
  • NP_001394854.1:p.Gly1260Ter
  • NP_001394855.1:p.Gly1260Ter
  • NP_001394856.1:p.Gly1260Ter
  • NP_001394857.1:p.Gly1260Ter
  • NP_001394858.1:p.Gly1260Ter
  • NP_001394859.1:p.Gly1259Ter
  • NP_001394860.1:p.Gly1259Ter
  • NP_001394861.1:p.Gly1259Ter
  • NP_001394862.1:p.Gly1260Ter
  • NP_001394863.1:p.Gly1259Ter
  • NP_001394864.1:p.Gly1260Ter
  • NP_001394865.1:p.Gly1259Ter
  • NP_001394866.1:p.Gly1307Ter
  • NP_001394867.1:p.Gly1307Ter
  • NP_001394868.1:p.Gly1307Ter
  • NP_001394869.1:p.Gly1306Ter
  • NP_001394870.1:p.Gly1306Ter
  • NP_001394871.1:p.Gly1301Ter
  • NP_001394872.1:p.Gly1300Ter
  • NP_001394873.1:p.Gly1301Ter
  • NP_001394874.1:p.Gly1301Ter
  • NP_001394875.1:p.Gly1237Ter
  • NP_001394876.1:p.Gly1237Ter
  • NP_001394877.1:p.Gly1237Ter
  • NP_001394878.1:p.Gly1237Ter
  • NP_001394879.1:p.Gly1237Ter
  • NP_001394880.1:p.Gly1237Ter
  • NP_001394881.1:p.Gly1237Ter
  • NP_001394882.1:p.Gly1237Ter
  • NP_001394883.1:p.Gly1236Ter
  • NP_001394884.1:p.Gly1236Ter
  • NP_001394885.1:p.Gly1236Ter
  • NP_001394886.1:p.Gly1237Ter
  • NP_001394887.1:p.Gly1236Ter
  • NP_001394888.1:p.Gly1221Ter
  • NP_001394889.1:p.Gly1221Ter
  • NP_001394891.1:p.Gly1220Ter
  • NP_001394892.1:p.Gly1221Ter
  • NP_001394893.1:p.Gly1300Ter
  • NP_001394894.1:p.Gly1180Ter
  • NP_001394895.1:p.Gly1052Ter
  • NP_001394896.1:p.Gly1052Ter
  • NP_001394897.1:p.Gly480Ter
  • NP_001394898.1:p.Gly480Ter
  • NP_009225.1:p.Gly1348Ter
  • NP_009225.1:p.Gly1348Ter
  • NP_009228.2:p.Gly1301Ter
  • NP_009231.2:p.Gly1348Ter
  • LRG_292t1:c.4042G>T
  • LRG_292:g.126495G>T
  • LRG_292p1:p.Gly1348Ter
  • NC_000017.10:g.41243506C>A
  • NM_007294.3:c.4042G>T
  • NR_027676.1:n.4178G>T
  • p.Gly1348X
Protein change:
G1052*
Links:
dbSNP: rs886040191
NCBI 1000 Genomes Browser:
rs886040191
Molecular consequence:
  • NM_001407970.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-466G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-457G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4033G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4033G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3961G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3961G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3961G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3961G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3964G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4039G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3841G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3838G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3838G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3832G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3829G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3778G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3775G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3919G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3916G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3706G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3706G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3706G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3709G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3706G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3658G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3661G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3898G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3538G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3154G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3154G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1438G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1438G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4042G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3901G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4042G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004360201Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 31, 2022) 		germlineclinical testing

PubMed (4)
[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

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, Bonanni B, Manoukian S, Zuradelli M, Tondini C, Pasini B, Peterlongo P, Plaseska-Karanfilska D, Jakimovska M, Majidzadeh K, Zarinfam S, Loizidou MA, Hadjisavvas A, Michailidou K, Kyriacou K, Behar DM, Molho RB, et al.

Hum Mutat. 2019 Nov;40(11):e1-e23. doi: 10.1002/humu.23842. Epub 2019 Jul 26.

PubMed [citation]
PMID:
31209999
See all PubMed Citations (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV004360201.1

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

Description

This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals at high-risk for or affected with breast and/or ovarian cancer (PMID: 31209999, 34072659), and has been identified in one family among the CIMBA participants (PMID: 29446198) (https://cimba.ccge.medschl.cam.ac.uk/). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Nov 3, 2024