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NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 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:
RCV001853000.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter)]

NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter)

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.3472G>T (p.Glu1158Ter)
HGVS:
  • NC_000017.11:g.43092059C>A
  • NG_005905.2:g.125925G>T
  • NG_087068.1:g.1041C>A
  • NM_001407571.1:c.3259G>T
  • NM_001407581.1:c.3472G>T
  • NM_001407582.1:c.3472G>T
  • NM_001407583.1:c.3472G>T
  • NM_001407585.1:c.3472G>T
  • NM_001407587.1:c.3469G>T
  • NM_001407590.1:c.3469G>T
  • NM_001407591.1:c.3469G>T
  • NM_001407593.1:c.3472G>T
  • NM_001407594.1:c.3472G>T
  • NM_001407596.1:c.3472G>T
  • NM_001407597.1:c.3472G>T
  • NM_001407598.1:c.3472G>T
  • NM_001407602.1:c.3472G>T
  • NM_001407603.1:c.3472G>T
  • NM_001407605.1:c.3472G>T
  • NM_001407610.1:c.3469G>T
  • NM_001407611.1:c.3469G>T
  • NM_001407612.1:c.3469G>T
  • NM_001407613.1:c.3469G>T
  • NM_001407614.1:c.3469G>T
  • NM_001407615.1:c.3469G>T
  • NM_001407616.1:c.3472G>T
  • NM_001407617.1:c.3472G>T
  • NM_001407618.1:c.3472G>T
  • NM_001407619.1:c.3472G>T
  • NM_001407620.1:c.3472G>T
  • NM_001407621.1:c.3472G>T
  • NM_001407622.1:c.3472G>T
  • NM_001407623.1:c.3472G>T
  • NM_001407624.1:c.3472G>T
  • NM_001407625.1:c.3472G>T
  • NM_001407626.1:c.3472G>T
  • NM_001407627.1:c.3469G>T
  • NM_001407628.1:c.3469G>T
  • NM_001407629.1:c.3469G>T
  • NM_001407630.1:c.3469G>T
  • NM_001407631.1:c.3469G>T
  • NM_001407632.1:c.3469G>T
  • NM_001407633.1:c.3469G>T
  • NM_001407634.1:c.3469G>T
  • NM_001407635.1:c.3469G>T
  • NM_001407636.1:c.3469G>T
  • NM_001407637.1:c.3469G>T
  • NM_001407638.1:c.3469G>T
  • NM_001407639.1:c.3472G>T
  • NM_001407640.1:c.3472G>T
  • NM_001407641.1:c.3472G>T
  • NM_001407642.1:c.3472G>T
  • NM_001407644.1:c.3469G>T
  • NM_001407645.1:c.3469G>T
  • NM_001407646.1:c.3463G>T
  • NM_001407647.1:c.3463G>T
  • NM_001407648.1:c.3349G>T
  • NM_001407649.1:c.3346G>T
  • NM_001407652.1:c.3472G>T
  • NM_001407653.1:c.3394G>T
  • NM_001407654.1:c.3394G>T
  • NM_001407655.1:c.3394G>T
  • NM_001407656.1:c.3394G>T
  • NM_001407657.1:c.3394G>T
  • NM_001407658.1:c.3394G>T
  • NM_001407659.1:c.3391G>T
  • NM_001407660.1:c.3391G>T
  • NM_001407661.1:c.3391G>T
  • NM_001407662.1:c.3391G>T
  • NM_001407663.1:c.3394G>T
  • NM_001407664.1:c.3349G>T
  • NM_001407665.1:c.3349G>T
  • NM_001407666.1:c.3349G>T
  • NM_001407667.1:c.3349G>T
  • NM_001407668.1:c.3349G>T
  • NM_001407669.1:c.3349G>T
  • NM_001407670.1:c.3346G>T
  • NM_001407671.1:c.3346G>T
  • NM_001407672.1:c.3346G>T
  • NM_001407673.1:c.3346G>T
  • NM_001407674.1:c.3349G>T
  • NM_001407675.1:c.3349G>T
  • NM_001407676.1:c.3349G>T
  • NM_001407677.1:c.3349G>T
  • NM_001407678.1:c.3349G>T
  • NM_001407679.1:c.3349G>T
  • NM_001407680.1:c.3349G>T
  • NM_001407681.1:c.3349G>T
  • NM_001407682.1:c.3349G>T
  • NM_001407683.1:c.3349G>T
  • NM_001407684.1:c.3472G>T
  • NM_001407685.1:c.3346G>T
  • NM_001407686.1:c.3346G>T
  • NM_001407687.1:c.3346G>T
  • NM_001407688.1:c.3346G>T
  • NM_001407689.1:c.3346G>T
  • NM_001407690.1:c.3346G>T
  • NM_001407691.1:c.3346G>T
  • NM_001407692.1:c.3331G>T
  • NM_001407694.1:c.3331G>T
  • NM_001407695.1:c.3331G>T
  • NM_001407696.1:c.3331G>T
  • NM_001407697.1:c.3331G>T
  • NM_001407698.1:c.3331G>T
  • NM_001407724.1:c.3331G>T
  • NM_001407725.1:c.3331G>T
  • NM_001407726.1:c.3331G>T
  • NM_001407727.1:c.3331G>T
  • NM_001407728.1:c.3331G>T
  • NM_001407729.1:c.3331G>T
  • NM_001407730.1:c.3331G>T
  • NM_001407731.1:c.3331G>T
  • NM_001407732.1:c.3331G>T
  • NM_001407733.1:c.3331G>T
  • NM_001407734.1:c.3331G>T
  • NM_001407735.1:c.3331G>T
  • NM_001407736.1:c.3331G>T
  • NM_001407737.1:c.3331G>T
  • NM_001407738.1:c.3331G>T
  • NM_001407739.1:c.3331G>T
  • NM_001407740.1:c.3328G>T
  • NM_001407741.1:c.3328G>T
  • NM_001407742.1:c.3328G>T
  • NM_001407743.1:c.3328G>T
  • NM_001407744.1:c.3328G>T
  • NM_001407745.1:c.3328G>T
  • NM_001407746.1:c.3328G>T
  • NM_001407747.1:c.3328G>T
  • NM_001407748.1:c.3328G>T
  • NM_001407749.1:c.3328G>T
  • NM_001407750.1:c.3331G>T
  • NM_001407751.1:c.3331G>T
  • NM_001407752.1:c.3331G>T
  • NM_001407838.1:c.3328G>T
  • NM_001407839.1:c.3328G>T
  • NM_001407841.1:c.3328G>T
  • NM_001407842.1:c.3328G>T
  • NM_001407843.1:c.3328G>T
  • NM_001407844.1:c.3328G>T
  • NM_001407845.1:c.3328G>T
  • NM_001407846.1:c.3328G>T
  • NM_001407847.1:c.3328G>T
  • NM_001407848.1:c.3328G>T
  • NM_001407849.1:c.3328G>T
  • NM_001407850.1:c.3331G>T
  • NM_001407851.1:c.3331G>T
  • NM_001407852.1:c.3331G>T
  • NM_001407853.1:c.3259G>T
  • NM_001407854.1:c.3472G>T
  • NM_001407858.1:c.3472G>T
  • NM_001407859.1:c.3472G>T
  • NM_001407860.1:c.3469G>T
  • NM_001407861.1:c.3469G>T
  • NM_001407862.1:c.3271G>T
  • NM_001407863.1:c.3349G>T
  • NM_001407874.1:c.3268G>T
  • NM_001407875.1:c.3268G>T
  • NM_001407879.1:c.3262G>T
  • NM_001407881.1:c.3262G>T
  • NM_001407882.1:c.3262G>T
  • NM_001407884.1:c.3262G>T
  • NM_001407885.1:c.3262G>T
  • NM_001407886.1:c.3262G>T
  • NM_001407887.1:c.3262G>T
  • NM_001407889.1:c.3262G>T
  • NM_001407894.1:c.3259G>T
  • NM_001407895.1:c.3259G>T
  • NM_001407896.1:c.3259G>T
  • NM_001407897.1:c.3259G>T
  • NM_001407898.1:c.3259G>T
  • NM_001407899.1:c.3259G>T
  • NM_001407900.1:c.3262G>T
  • NM_001407902.1:c.3262G>T
  • NM_001407904.1:c.3262G>T
  • NM_001407906.1:c.3262G>T
  • NM_001407907.1:c.3262G>T
  • NM_001407908.1:c.3262G>T
  • NM_001407909.1:c.3262G>T
  • NM_001407910.1:c.3262G>T
  • NM_001407915.1:c.3259G>T
  • NM_001407916.1:c.3259G>T
  • NM_001407917.1:c.3259G>T
  • NM_001407918.1:c.3259G>T
  • NM_001407919.1:c.3349G>T
  • NM_001407920.1:c.3208G>T
  • NM_001407921.1:c.3208G>T
  • NM_001407922.1:c.3208G>T
  • NM_001407923.1:c.3208G>T
  • NM_001407924.1:c.3208G>T
  • NM_001407925.1:c.3208G>T
  • NM_001407926.1:c.3208G>T
  • NM_001407927.1:c.3208G>T
  • NM_001407928.1:c.3208G>T
  • NM_001407929.1:c.3208G>T
  • NM_001407930.1:c.3205G>T
  • NM_001407931.1:c.3205G>T
  • NM_001407932.1:c.3205G>T
  • NM_001407933.1:c.3208G>T
  • NM_001407934.1:c.3205G>T
  • NM_001407935.1:c.3208G>T
  • NM_001407936.1:c.3205G>T
  • NM_001407937.1:c.3349G>T
  • NM_001407938.1:c.3349G>T
  • NM_001407939.1:c.3349G>T
  • NM_001407940.1:c.3346G>T
  • NM_001407941.1:c.3346G>T
  • NM_001407942.1:c.3331G>T
  • NM_001407943.1:c.3328G>T
  • NM_001407944.1:c.3331G>T
  • NM_001407945.1:c.3331G>T
  • NM_001407946.1:c.3139G>T
  • NM_001407947.1:c.3139G>T
  • NM_001407948.1:c.3139G>T
  • NM_001407949.1:c.3139G>T
  • NM_001407950.1:c.3139G>T
  • NM_001407951.1:c.3139G>T
  • NM_001407952.1:c.3139G>T
  • NM_001407953.1:c.3139G>T
  • NM_001407954.1:c.3136G>T
  • NM_001407955.1:c.3136G>T
  • NM_001407956.1:c.3136G>T
  • NM_001407957.1:c.3139G>T
  • NM_001407958.1:c.3136G>T
  • NM_001407959.1:c.3091G>T
  • NM_001407960.1:c.3091G>T
  • NM_001407962.1:c.3088G>T
  • NM_001407963.1:c.3091G>T
  • NM_001407964.1:c.3328G>T
  • NM_001407965.1:c.2968G>T
  • NM_001407966.1:c.2584G>T
  • NM_001407967.1:c.2584G>T
  • NM_001407968.1:c.868G>T
  • NM_001407969.1:c.868G>T
  • NM_001407970.1:c.788-1027G>T
  • NM_001407971.1:c.788-1027G>T
  • NM_001407972.1:c.785-1027G>T
  • NM_001407973.1:c.788-1027G>T
  • NM_001407974.1:c.788-1027G>T
  • NM_001407975.1:c.788-1027G>T
  • NM_001407976.1:c.788-1027G>T
  • NM_001407977.1:c.788-1027G>T
  • NM_001407978.1:c.788-1027G>T
  • NM_001407979.1:c.788-1027G>T
  • NM_001407980.1:c.788-1027G>T
  • NM_001407981.1:c.788-1027G>T
  • NM_001407982.1:c.788-1027G>T
  • NM_001407983.1:c.788-1027G>T
  • NM_001407984.1:c.785-1027G>T
  • NM_001407985.1:c.785-1027G>T
  • NM_001407986.1:c.785-1027G>T
  • NM_001407990.1:c.788-1027G>T
  • NM_001407991.1:c.785-1027G>T
  • NM_001407992.1:c.785-1027G>T
  • NM_001407993.1:c.788-1027G>T
  • NM_001408392.1:c.785-1027G>T
  • NM_001408396.1:c.785-1027G>T
  • NM_001408397.1:c.785-1027G>T
  • NM_001408398.1:c.785-1027G>T
  • NM_001408399.1:c.785-1027G>T
  • NM_001408400.1:c.785-1027G>T
  • NM_001408401.1:c.785-1027G>T
  • NM_001408402.1:c.785-1027G>T
  • NM_001408403.1:c.788-1027G>T
  • NM_001408404.1:c.788-1027G>T
  • NM_001408406.1:c.791-1036G>T
  • NM_001408407.1:c.785-1027G>T
  • NM_001408408.1:c.779-1027G>T
  • NM_001408409.1:c.710-1027G>T
  • NM_001408410.1:c.647-1027G>T
  • NM_001408411.1:c.710-1027G>T
  • NM_001408412.1:c.710-1027G>T
  • NM_001408413.1:c.707-1027G>T
  • NM_001408414.1:c.710-1027G>T
  • NM_001408415.1:c.710-1027G>T
  • NM_001408416.1:c.707-1027G>T
  • NM_001408418.1:c.671-1027G>T
  • NM_001408419.1:c.671-1027G>T
  • NM_001408420.1:c.671-1027G>T
  • NM_001408421.1:c.668-1027G>T
  • NM_001408422.1:c.671-1027G>T
  • NM_001408423.1:c.671-1027G>T
  • NM_001408424.1:c.668-1027G>T
  • NM_001408425.1:c.665-1027G>T
  • NM_001408426.1:c.665-1027G>T
  • NM_001408427.1:c.665-1027G>T
  • NM_001408428.1:c.665-1027G>T
  • NM_001408429.1:c.665-1027G>T
  • NM_001408430.1:c.665-1027G>T
  • NM_001408431.1:c.668-1027G>T
  • NM_001408432.1:c.662-1027G>T
  • NM_001408433.1:c.662-1027G>T
  • NM_001408434.1:c.662-1027G>T
  • NM_001408435.1:c.662-1027G>T
  • NM_001408436.1:c.665-1027G>T
  • NM_001408437.1:c.665-1027G>T
  • NM_001408438.1:c.665-1027G>T
  • NM_001408439.1:c.665-1027G>T
  • NM_001408440.1:c.665-1027G>T
  • NM_001408441.1:c.665-1027G>T
  • NM_001408442.1:c.665-1027G>T
  • NM_001408443.1:c.665-1027G>T
  • NM_001408444.1:c.665-1027G>T
  • NM_001408445.1:c.662-1027G>T
  • NM_001408446.1:c.662-1027G>T
  • NM_001408447.1:c.662-1027G>T
  • NM_001408448.1:c.662-1027G>T
  • NM_001408450.1:c.662-1027G>T
  • NM_001408451.1:c.653-1027G>T
  • NM_001408452.1:c.647-1027G>T
  • NM_001408453.1:c.647-1027G>T
  • NM_001408454.1:c.647-1027G>T
  • NM_001408455.1:c.647-1027G>T
  • NM_001408456.1:c.647-1027G>T
  • NM_001408457.1:c.647-1027G>T
  • NM_001408458.1:c.647-1027G>T
  • NM_001408459.1:c.647-1027G>T
  • NM_001408460.1:c.647-1027G>T
  • NM_001408461.1:c.647-1027G>T
  • NM_001408462.1:c.644-1027G>T
  • NM_001408463.1:c.644-1027G>T
  • NM_001408464.1:c.644-1027G>T
  • NM_001408465.1:c.644-1027G>T
  • NM_001408466.1:c.647-1027G>T
  • NM_001408467.1:c.647-1027G>T
  • NM_001408468.1:c.644-1027G>T
  • NM_001408469.1:c.647-1027G>T
  • NM_001408470.1:c.644-1027G>T
  • NM_001408472.1:c.788-1027G>T
  • NM_001408473.1:c.785-1027G>T
  • NM_001408474.1:c.587-1027G>T
  • NM_001408475.1:c.584-1027G>T
  • NM_001408476.1:c.587-1027G>T
  • NM_001408478.1:c.578-1027G>T
  • NM_001408479.1:c.578-1027G>T
  • NM_001408480.1:c.578-1027G>T
  • NM_001408481.1:c.578-1027G>T
  • NM_001408482.1:c.578-1027G>T
  • NM_001408483.1:c.578-1027G>T
  • NM_001408484.1:c.578-1027G>T
  • NM_001408485.1:c.578-1027G>T
  • NM_001408489.1:c.578-1027G>T
  • NM_001408490.1:c.575-1027G>T
  • NM_001408491.1:c.575-1027G>T
  • NM_001408492.1:c.578-1027G>T
  • NM_001408493.1:c.575-1027G>T
  • NM_001408494.1:c.548-1027G>T
  • NM_001408495.1:c.545-1027G>T
  • NM_001408496.1:c.524-1027G>T
  • NM_001408497.1:c.524-1027G>T
  • NM_001408498.1:c.524-1027G>T
  • NM_001408499.1:c.524-1027G>T
  • NM_001408500.1:c.524-1027G>T
  • NM_001408501.1:c.524-1027G>T
  • NM_001408502.1:c.455-1027G>T
  • NM_001408503.1:c.521-1027G>T
  • NM_001408504.1:c.521-1027G>T
  • NM_001408505.1:c.521-1027G>T
  • NM_001408506.1:c.461-1027G>T
  • NM_001408507.1:c.461-1027G>T
  • NM_001408508.1:c.452-1027G>T
  • NM_001408509.1:c.452-1027G>T
  • NM_001408510.1:c.407-1027G>T
  • NM_001408511.1:c.404-1027G>T
  • NM_001408512.1:c.284-1027G>T
  • NM_001408513.1:c.578-1027G>T
  • NM_001408514.1:c.578-1027G>T
  • NM_007294.4:c.3472G>TMANE SELECT
  • NM_007297.4:c.3331G>T
  • NM_007298.4:c.788-1027G>T
  • NM_007299.4:c.788-1027G>T
  • NM_007300.4:c.3472G>T
  • NP_001394500.1:p.Glu1087Ter
  • NP_001394510.1:p.Glu1158Ter
  • NP_001394511.1:p.Glu1158Ter
  • NP_001394512.1:p.Glu1158Ter
  • NP_001394514.1:p.Glu1158Ter
  • NP_001394516.1:p.Glu1157Ter
  • NP_001394519.1:p.Glu1157Ter
  • NP_001394520.1:p.Glu1157Ter
  • NP_001394522.1:p.Glu1158Ter
  • NP_001394523.1:p.Glu1158Ter
  • NP_001394525.1:p.Glu1158Ter
  • NP_001394526.1:p.Glu1158Ter
  • NP_001394527.1:p.Glu1158Ter
  • NP_001394531.1:p.Glu1158Ter
  • NP_001394532.1:p.Glu1158Ter
  • NP_001394534.1:p.Glu1158Ter
  • NP_001394539.1:p.Glu1157Ter
  • NP_001394540.1:p.Glu1157Ter
  • NP_001394541.1:p.Glu1157Ter
  • NP_001394542.1:p.Glu1157Ter
  • NP_001394543.1:p.Glu1157Ter
  • NP_001394544.1:p.Glu1157Ter
  • NP_001394545.1:p.Glu1158Ter
  • NP_001394546.1:p.Glu1158Ter
  • NP_001394547.1:p.Glu1158Ter
  • NP_001394548.1:p.Glu1158Ter
  • NP_001394549.1:p.Glu1158Ter
  • NP_001394550.1:p.Glu1158Ter
  • NP_001394551.1:p.Glu1158Ter
  • NP_001394552.1:p.Glu1158Ter
  • NP_001394553.1:p.Glu1158Ter
  • NP_001394554.1:p.Glu1158Ter
  • NP_001394555.1:p.Glu1158Ter
  • NP_001394556.1:p.Glu1157Ter
  • NP_001394557.1:p.Glu1157Ter
  • NP_001394558.1:p.Glu1157Ter
  • NP_001394559.1:p.Glu1157Ter
  • NP_001394560.1:p.Glu1157Ter
  • NP_001394561.1:p.Glu1157Ter
  • NP_001394562.1:p.Glu1157Ter
  • NP_001394563.1:p.Glu1157Ter
  • NP_001394564.1:p.Glu1157Ter
  • NP_001394565.1:p.Glu1157Ter
  • NP_001394566.1:p.Glu1157Ter
  • NP_001394567.1:p.Glu1157Ter
  • NP_001394568.1:p.Glu1158Ter
  • NP_001394569.1:p.Glu1158Ter
  • NP_001394570.1:p.Glu1158Ter
  • NP_001394571.1:p.Glu1158Ter
  • NP_001394573.1:p.Glu1157Ter
  • NP_001394574.1:p.Glu1157Ter
  • NP_001394575.1:p.Glu1155Ter
  • NP_001394576.1:p.Glu1155Ter
  • NP_001394577.1:p.Glu1117Ter
  • NP_001394578.1:p.Glu1116Ter
  • NP_001394581.1:p.Glu1158Ter
  • NP_001394582.1:p.Glu1132Ter
  • NP_001394583.1:p.Glu1132Ter
  • NP_001394584.1:p.Glu1132Ter
  • NP_001394585.1:p.Glu1132Ter
  • NP_001394586.1:p.Glu1132Ter
  • NP_001394587.1:p.Glu1132Ter
  • NP_001394588.1:p.Glu1131Ter
  • NP_001394589.1:p.Glu1131Ter
  • NP_001394590.1:p.Glu1131Ter
  • NP_001394591.1:p.Glu1131Ter
  • NP_001394592.1:p.Glu1132Ter
  • NP_001394593.1:p.Glu1117Ter
  • NP_001394594.1:p.Glu1117Ter
  • NP_001394595.1:p.Glu1117Ter
  • NP_001394596.1:p.Glu1117Ter
  • NP_001394597.1:p.Glu1117Ter
  • NP_001394598.1:p.Glu1117Ter
  • NP_001394599.1:p.Glu1116Ter
  • NP_001394600.1:p.Glu1116Ter
  • NP_001394601.1:p.Glu1116Ter
  • NP_001394602.1:p.Glu1116Ter
  • NP_001394603.1:p.Glu1117Ter
  • NP_001394604.1:p.Glu1117Ter
  • NP_001394605.1:p.Glu1117Ter
  • NP_001394606.1:p.Glu1117Ter
  • NP_001394607.1:p.Glu1117Ter
  • NP_001394608.1:p.Glu1117Ter
  • NP_001394609.1:p.Glu1117Ter
  • NP_001394610.1:p.Glu1117Ter
  • NP_001394611.1:p.Glu1117Ter
  • NP_001394612.1:p.Glu1117Ter
  • NP_001394613.1:p.Glu1158Ter
  • NP_001394614.1:p.Glu1116Ter
  • NP_001394615.1:p.Glu1116Ter
  • NP_001394616.1:p.Glu1116Ter
  • NP_001394617.1:p.Glu1116Ter
  • NP_001394618.1:p.Glu1116Ter
  • NP_001394619.1:p.Glu1116Ter
  • NP_001394620.1:p.Glu1116Ter
  • NP_001394621.1:p.Glu1111Ter
  • NP_001394623.1:p.Glu1111Ter
  • NP_001394624.1:p.Glu1111Ter
  • NP_001394625.1:p.Glu1111Ter
  • NP_001394626.1:p.Glu1111Ter
  • NP_001394627.1:p.Glu1111Ter
  • NP_001394653.1:p.Glu1111Ter
  • NP_001394654.1:p.Glu1111Ter
  • NP_001394655.1:p.Glu1111Ter
  • NP_001394656.1:p.Glu1111Ter
  • NP_001394657.1:p.Glu1111Ter
  • NP_001394658.1:p.Glu1111Ter
  • NP_001394659.1:p.Glu1111Ter
  • NP_001394660.1:p.Glu1111Ter
  • NP_001394661.1:p.Glu1111Ter
  • NP_001394662.1:p.Glu1111Ter
  • NP_001394663.1:p.Glu1111Ter
  • NP_001394664.1:p.Glu1111Ter
  • NP_001394665.1:p.Glu1111Ter
  • NP_001394666.1:p.Glu1111Ter
  • NP_001394667.1:p.Glu1111Ter
  • NP_001394668.1:p.Glu1111Ter
  • NP_001394669.1:p.Glu1110Ter
  • NP_001394670.1:p.Glu1110Ter
  • NP_001394671.1:p.Glu1110Ter
  • NP_001394672.1:p.Glu1110Ter
  • NP_001394673.1:p.Glu1110Ter
  • NP_001394674.1:p.Glu1110Ter
  • NP_001394675.1:p.Glu1110Ter
  • NP_001394676.1:p.Glu1110Ter
  • NP_001394677.1:p.Glu1110Ter
  • NP_001394678.1:p.Glu1110Ter
  • NP_001394679.1:p.Glu1111Ter
  • NP_001394680.1:p.Glu1111Ter
  • NP_001394681.1:p.Glu1111Ter
  • NP_001394767.1:p.Glu1110Ter
  • NP_001394768.1:p.Glu1110Ter
  • NP_001394770.1:p.Glu1110Ter
  • NP_001394771.1:p.Glu1110Ter
  • NP_001394772.1:p.Glu1110Ter
  • NP_001394773.1:p.Glu1110Ter
  • NP_001394774.1:p.Glu1110Ter
  • NP_001394775.1:p.Glu1110Ter
  • NP_001394776.1:p.Glu1110Ter
  • NP_001394777.1:p.Glu1110Ter
  • NP_001394778.1:p.Glu1110Ter
  • NP_001394779.1:p.Glu1111Ter
  • NP_001394780.1:p.Glu1111Ter
  • NP_001394781.1:p.Glu1111Ter
  • NP_001394782.1:p.Glu1087Ter
  • NP_001394783.1:p.Glu1158Ter
  • NP_001394787.1:p.Glu1158Ter
  • NP_001394788.1:p.Glu1158Ter
  • NP_001394789.1:p.Glu1157Ter
  • NP_001394790.1:p.Glu1157Ter
  • NP_001394791.1:p.Glu1091Ter
  • NP_001394792.1:p.Glu1117Ter
  • NP_001394803.1:p.Glu1090Ter
  • NP_001394804.1:p.Glu1090Ter
  • NP_001394808.1:p.Glu1088Ter
  • NP_001394810.1:p.Glu1088Ter
  • NP_001394811.1:p.Glu1088Ter
  • NP_001394813.1:p.Glu1088Ter
  • NP_001394814.1:p.Glu1088Ter
  • NP_001394815.1:p.Glu1088Ter
  • NP_001394816.1:p.Glu1088Ter
  • NP_001394818.1:p.Glu1088Ter
  • NP_001394823.1:p.Glu1087Ter
  • NP_001394824.1:p.Glu1087Ter
  • NP_001394825.1:p.Glu1087Ter
  • NP_001394826.1:p.Glu1087Ter
  • NP_001394827.1:p.Glu1087Ter
  • NP_001394828.1:p.Glu1087Ter
  • NP_001394829.1:p.Glu1088Ter
  • NP_001394831.1:p.Glu1088Ter
  • NP_001394833.1:p.Glu1088Ter
  • NP_001394835.1:p.Glu1088Ter
  • NP_001394836.1:p.Glu1088Ter
  • NP_001394837.1:p.Glu1088Ter
  • NP_001394838.1:p.Glu1088Ter
  • NP_001394839.1:p.Glu1088Ter
  • NP_001394844.1:p.Glu1087Ter
  • NP_001394845.1:p.Glu1087Ter
  • NP_001394846.1:p.Glu1087Ter
  • NP_001394847.1:p.Glu1087Ter
  • NP_001394848.1:p.Glu1117Ter
  • NP_001394849.1:p.Glu1070Ter
  • NP_001394850.1:p.Glu1070Ter
  • NP_001394851.1:p.Glu1070Ter
  • NP_001394852.1:p.Glu1070Ter
  • NP_001394853.1:p.Glu1070Ter
  • NP_001394854.1:p.Glu1070Ter
  • NP_001394855.1:p.Glu1070Ter
  • NP_001394856.1:p.Glu1070Ter
  • NP_001394857.1:p.Glu1070Ter
  • NP_001394858.1:p.Glu1070Ter
  • NP_001394859.1:p.Glu1069Ter
  • NP_001394860.1:p.Glu1069Ter
  • NP_001394861.1:p.Glu1069Ter
  • NP_001394862.1:p.Glu1070Ter
  • NP_001394863.1:p.Glu1069Ter
  • NP_001394864.1:p.Glu1070Ter
  • NP_001394865.1:p.Glu1069Ter
  • NP_001394866.1:p.Glu1117Ter
  • NP_001394867.1:p.Glu1117Ter
  • NP_001394868.1:p.Glu1117Ter
  • NP_001394869.1:p.Glu1116Ter
  • NP_001394870.1:p.Glu1116Ter
  • NP_001394871.1:p.Glu1111Ter
  • NP_001394872.1:p.Glu1110Ter
  • NP_001394873.1:p.Glu1111Ter
  • NP_001394874.1:p.Glu1111Ter
  • NP_001394875.1:p.Glu1047Ter
  • NP_001394876.1:p.Glu1047Ter
  • NP_001394877.1:p.Glu1047Ter
  • NP_001394878.1:p.Glu1047Ter
  • NP_001394879.1:p.Glu1047Ter
  • NP_001394880.1:p.Glu1047Ter
  • NP_001394881.1:p.Glu1047Ter
  • NP_001394882.1:p.Glu1047Ter
  • NP_001394883.1:p.Glu1046Ter
  • NP_001394884.1:p.Glu1046Ter
  • NP_001394885.1:p.Glu1046Ter
  • NP_001394886.1:p.Glu1047Ter
  • NP_001394887.1:p.Glu1046Ter
  • NP_001394888.1:p.Glu1031Ter
  • NP_001394889.1:p.Glu1031Ter
  • NP_001394891.1:p.Glu1030Ter
  • NP_001394892.1:p.Glu1031Ter
  • NP_001394893.1:p.Glu1110Ter
  • NP_001394894.1:p.Glu990Ter
  • NP_001394895.1:p.Glu862Ter
  • NP_001394896.1:p.Glu862Ter
  • NP_001394897.1:p.Glu290Ter
  • NP_001394898.1:p.Glu290Ter
  • NP_009225.1:p.Glu1158Ter
  • NP_009225.1:p.Glu1158Ter
  • NP_009228.2:p.Glu1111Ter
  • NP_009231.2:p.Glu1158Ter
  • LRG_292t1:c.3472G>T
  • LRG_292:g.125925G>T
  • LRG_292p1:p.Glu1158Ter
  • NC_000017.10:g.41244076C>A
  • NM_007294.3:c.3472G>T
  • NR_027676.1:n.3608G>T
Protein change:
E1030*
Links:
dbSNP: rs397509072
NCBI 1000 Genomes Browser:
rs397509072
Molecular consequence:
  • NM_001407970.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1036G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1027G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.3463G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.3463G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3391G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3391G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3391G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3391G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3394G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.3469G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3271G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3268G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3268G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3262G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3259G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3205G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3205G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3205G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3205G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3208G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3205G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3349G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3346G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.3136G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.3136G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.3136G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.3139G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.3136G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3091G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3091G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3088G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3091G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3328G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.2584G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.2584G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.868G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.868G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.3472G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002140925Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 13, 2022) 		germlineclinical testing

PubMed (6)
[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

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group., Haffty BG.

Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.

PubMed [citation]
PMID:
22798144

BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.

Li A, Xie R, Zhi Q, Deng Y, Wu Y, Li W, Yang L, Jiao Z, Luo J, Zi Y, Sun G, Zhang J, Shi Y, Liu J.

Gynecol Oncol. 2018 Oct;151(1):145-152. doi: 10.1016/j.ygyno.2018.07.024. Epub 2018 Aug 2.

PubMed [citation]
PMID:
30078507
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002140925.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54894). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer (PMID: 22798144, 30078507, 30702160, 30720863). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1158*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

Last Updated: Oct 13, 2024