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NM_007294.4(BRCA1):c.3285del (p.Lys1095fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 11, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000478254.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)]

NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3285del (p.Lys1095fs)
HGVS:
  • NC_000017.11:g.43092248del
  • NG_005905.2:g.125738del
  • NG_087068.1:g.1230del
  • NM_001407571.1:c.3072del
  • NM_001407581.1:c.3285del
  • NM_001407582.1:c.3285del
  • NM_001407583.1:c.3285del
  • NM_001407585.1:c.3285del
  • NM_001407587.1:c.3282del
  • NM_001407590.1:c.3282del
  • NM_001407591.1:c.3282del
  • NM_001407593.1:c.3285del
  • NM_001407594.1:c.3285del
  • NM_001407596.1:c.3285del
  • NM_001407597.1:c.3285del
  • NM_001407598.1:c.3285del
  • NM_001407602.1:c.3285del
  • NM_001407603.1:c.3285del
  • NM_001407605.1:c.3285del
  • NM_001407610.1:c.3282del
  • NM_001407611.1:c.3282del
  • NM_001407612.1:c.3282del
  • NM_001407613.1:c.3282del
  • NM_001407614.1:c.3282del
  • NM_001407615.1:c.3282del
  • NM_001407616.1:c.3285del
  • NM_001407617.1:c.3285del
  • NM_001407618.1:c.3285del
  • NM_001407619.1:c.3285del
  • NM_001407620.1:c.3285del
  • NM_001407621.1:c.3285del
  • NM_001407622.1:c.3285del
  • NM_001407623.1:c.3285del
  • NM_001407624.1:c.3285del
  • NM_001407625.1:c.3285del
  • NM_001407626.1:c.3285del
  • NM_001407627.1:c.3282del
  • NM_001407628.1:c.3282del
  • NM_001407629.1:c.3282del
  • NM_001407630.1:c.3282del
  • NM_001407631.1:c.3282del
  • NM_001407632.1:c.3282del
  • NM_001407633.1:c.3282del
  • NM_001407634.1:c.3282del
  • NM_001407635.1:c.3282del
  • NM_001407636.1:c.3282del
  • NM_001407637.1:c.3282del
  • NM_001407638.1:c.3282del
  • NM_001407639.1:c.3285del
  • NM_001407640.1:c.3285del
  • NM_001407641.1:c.3285del
  • NM_001407642.1:c.3285del
  • NM_001407644.1:c.3282del
  • NM_001407645.1:c.3282del
  • NM_001407646.1:c.3276del
  • NM_001407647.1:c.3276del
  • NM_001407648.1:c.3162del
  • NM_001407649.1:c.3159del
  • NM_001407652.1:c.3285del
  • NM_001407653.1:c.3207del
  • NM_001407654.1:c.3207del
  • NM_001407655.1:c.3207del
  • NM_001407656.1:c.3207del
  • NM_001407657.1:c.3207del
  • NM_001407658.1:c.3207del
  • NM_001407659.1:c.3204del
  • NM_001407660.1:c.3204del
  • NM_001407661.1:c.3204del
  • NM_001407662.1:c.3204del
  • NM_001407663.1:c.3207del
  • NM_001407664.1:c.3162del
  • NM_001407665.1:c.3162del
  • NM_001407666.1:c.3162del
  • NM_001407667.1:c.3162del
  • NM_001407668.1:c.3162del
  • NM_001407669.1:c.3162del
  • NM_001407670.1:c.3159del
  • NM_001407671.1:c.3159del
  • NM_001407672.1:c.3159del
  • NM_001407673.1:c.3159del
  • NM_001407674.1:c.3162del
  • NM_001407675.1:c.3162del
  • NM_001407676.1:c.3162del
  • NM_001407677.1:c.3162del
  • NM_001407678.1:c.3162del
  • NM_001407679.1:c.3162del
  • NM_001407680.1:c.3162del
  • NM_001407681.1:c.3162del
  • NM_001407682.1:c.3162del
  • NM_001407683.1:c.3162del
  • NM_001407684.1:c.3285del
  • NM_001407685.1:c.3159del
  • NM_001407686.1:c.3159del
  • NM_001407687.1:c.3159del
  • NM_001407688.1:c.3159del
  • NM_001407689.1:c.3159del
  • NM_001407690.1:c.3159del
  • NM_001407691.1:c.3159del
  • NM_001407692.1:c.3144del
  • NM_001407694.1:c.3144del
  • NM_001407695.1:c.3144del
  • NM_001407696.1:c.3144del
  • NM_001407697.1:c.3144del
  • NM_001407698.1:c.3144del
  • NM_001407724.1:c.3144del
  • NM_001407725.1:c.3144del
  • NM_001407726.1:c.3144del
  • NM_001407727.1:c.3144del
  • NM_001407728.1:c.3144del
  • NM_001407729.1:c.3144del
  • NM_001407730.1:c.3144del
  • NM_001407731.1:c.3144del
  • NM_001407732.1:c.3144del
  • NM_001407733.1:c.3144del
  • NM_001407734.1:c.3144del
  • NM_001407735.1:c.3144del
  • NM_001407736.1:c.3144del
  • NM_001407737.1:c.3144del
  • NM_001407738.1:c.3144del
  • NM_001407739.1:c.3144del
  • NM_001407740.1:c.3141del
  • NM_001407741.1:c.3141del
  • NM_001407742.1:c.3141del
  • NM_001407743.1:c.3141del
  • NM_001407744.1:c.3141del
  • NM_001407745.1:c.3141del
  • NM_001407746.1:c.3141del
  • NM_001407747.1:c.3141del
  • NM_001407748.1:c.3141del
  • NM_001407749.1:c.3141del
  • NM_001407750.1:c.3144del
  • NM_001407751.1:c.3144del
  • NM_001407752.1:c.3144del
  • NM_001407838.1:c.3141del
  • NM_001407839.1:c.3141del
  • NM_001407841.1:c.3141del
  • NM_001407842.1:c.3141del
  • NM_001407843.1:c.3141del
  • NM_001407844.1:c.3141del
  • NM_001407845.1:c.3141del
  • NM_001407846.1:c.3141del
  • NM_001407847.1:c.3141del
  • NM_001407848.1:c.3141del
  • NM_001407849.1:c.3141del
  • NM_001407850.1:c.3144del
  • NM_001407851.1:c.3144del
  • NM_001407852.1:c.3144del
  • NM_001407853.1:c.3072del
  • NM_001407854.1:c.3285del
  • NM_001407858.1:c.3285del
  • NM_001407859.1:c.3285del
  • NM_001407860.1:c.3282del
  • NM_001407861.1:c.3282del
  • NM_001407862.1:c.3084del
  • NM_001407863.1:c.3162del
  • NM_001407874.1:c.3081del
  • NM_001407875.1:c.3081del
  • NM_001407879.1:c.3075del
  • NM_001407881.1:c.3075del
  • NM_001407882.1:c.3075del
  • NM_001407884.1:c.3075del
  • NM_001407885.1:c.3075del
  • NM_001407886.1:c.3075del
  • NM_001407887.1:c.3075del
  • NM_001407889.1:c.3075del
  • NM_001407894.1:c.3072del
  • NM_001407895.1:c.3072del
  • NM_001407896.1:c.3072del
  • NM_001407897.1:c.3072del
  • NM_001407898.1:c.3072del
  • NM_001407899.1:c.3072del
  • NM_001407900.1:c.3075del
  • NM_001407902.1:c.3075del
  • NM_001407904.1:c.3075del
  • NM_001407906.1:c.3075del
  • NM_001407907.1:c.3075del
  • NM_001407908.1:c.3075del
  • NM_001407909.1:c.3075del
  • NM_001407910.1:c.3075del
  • NM_001407915.1:c.3072del
  • NM_001407916.1:c.3072del
  • NM_001407917.1:c.3072del
  • NM_001407918.1:c.3072del
  • NM_001407919.1:c.3162del
  • NM_001407920.1:c.3021del
  • NM_001407921.1:c.3021del
  • NM_001407922.1:c.3021del
  • NM_001407923.1:c.3021del
  • NM_001407924.1:c.3021del
  • NM_001407925.1:c.3021del
  • NM_001407926.1:c.3021del
  • NM_001407927.1:c.3021del
  • NM_001407928.1:c.3021del
  • NM_001407929.1:c.3021del
  • NM_001407930.1:c.3018del
  • NM_001407931.1:c.3018del
  • NM_001407932.1:c.3018del
  • NM_001407933.1:c.3021del
  • NM_001407934.1:c.3018del
  • NM_001407935.1:c.3021del
  • NM_001407936.1:c.3018del
  • NM_001407937.1:c.3162del
  • NM_001407938.1:c.3162del
  • NM_001407939.1:c.3162del
  • NM_001407940.1:c.3159del
  • NM_001407941.1:c.3159del
  • NM_001407942.1:c.3144del
  • NM_001407943.1:c.3141del
  • NM_001407944.1:c.3144del
  • NM_001407945.1:c.3144del
  • NM_001407946.1:c.2952del
  • NM_001407947.1:c.2952del
  • NM_001407948.1:c.2952del
  • NM_001407949.1:c.2952del
  • NM_001407950.1:c.2952del
  • NM_001407951.1:c.2952del
  • NM_001407952.1:c.2952del
  • NM_001407953.1:c.2952del
  • NM_001407954.1:c.2949del
  • NM_001407955.1:c.2949del
  • NM_001407956.1:c.2949del
  • NM_001407957.1:c.2952del
  • NM_001407958.1:c.2949del
  • NM_001407959.1:c.2904del
  • NM_001407960.1:c.2904del
  • NM_001407962.1:c.2901del
  • NM_001407963.1:c.2904del
  • NM_001407964.1:c.3141del
  • NM_001407965.1:c.2781del
  • NM_001407966.1:c.2397del
  • NM_001407967.1:c.2397del
  • NM_001407968.1:c.788-107del
  • NM_001407969.1:c.788-107del
  • NM_001407970.1:c.788-1214del
  • NM_001407971.1:c.788-1214del
  • NM_001407972.1:c.785-1214del
  • NM_001407973.1:c.788-1214del
  • NM_001407974.1:c.788-1214del
  • NM_001407975.1:c.788-1214del
  • NM_001407976.1:c.788-1214del
  • NM_001407977.1:c.788-1214del
  • NM_001407978.1:c.788-1214del
  • NM_001407979.1:c.788-1214del
  • NM_001407980.1:c.788-1214del
  • NM_001407981.1:c.788-1214del
  • NM_001407982.1:c.788-1214del
  • NM_001407983.1:c.788-1214del
  • NM_001407984.1:c.785-1214del
  • NM_001407985.1:c.785-1214del
  • NM_001407986.1:c.785-1214del
  • NM_001407990.1:c.788-1214del
  • NM_001407991.1:c.785-1214del
  • NM_001407992.1:c.785-1214del
  • NM_001407993.1:c.788-1214del
  • NM_001408392.1:c.785-1214del
  • NM_001408396.1:c.785-1214del
  • NM_001408397.1:c.785-1214del
  • NM_001408398.1:c.785-1214del
  • NM_001408399.1:c.785-1214del
  • NM_001408400.1:c.785-1214del
  • NM_001408401.1:c.785-1214del
  • NM_001408402.1:c.785-1214del
  • NM_001408403.1:c.788-1214del
  • NM_001408404.1:c.788-1214del
  • NM_001408406.1:c.791-1223del
  • NM_001408407.1:c.785-1214del
  • NM_001408408.1:c.779-1214del
  • NM_001408409.1:c.710-1214del
  • NM_001408410.1:c.647-1214del
  • NM_001408411.1:c.710-1214del
  • NM_001408412.1:c.710-1214del
  • NM_001408413.1:c.707-1214del
  • NM_001408414.1:c.710-1214del
  • NM_001408415.1:c.710-1214del
  • NM_001408416.1:c.707-1214del
  • NM_001408418.1:c.671-1214del
  • NM_001408419.1:c.671-1214del
  • NM_001408420.1:c.671-1214del
  • NM_001408421.1:c.668-1214del
  • NM_001408422.1:c.671-1214del
  • NM_001408423.1:c.671-1214del
  • NM_001408424.1:c.668-1214del
  • NM_001408425.1:c.665-1214del
  • NM_001408426.1:c.665-1214del
  • NM_001408427.1:c.665-1214del
  • NM_001408428.1:c.665-1214del
  • NM_001408429.1:c.665-1214del
  • NM_001408430.1:c.665-1214del
  • NM_001408431.1:c.668-1214del
  • NM_001408432.1:c.662-1214del
  • NM_001408433.1:c.662-1214del
  • NM_001408434.1:c.662-1214del
  • NM_001408435.1:c.662-1214del
  • NM_001408436.1:c.665-1214del
  • NM_001408437.1:c.665-1214del
  • NM_001408438.1:c.665-1214del
  • NM_001408439.1:c.665-1214del
  • NM_001408440.1:c.665-1214del
  • NM_001408441.1:c.665-1214del
  • NM_001408442.1:c.665-1214del
  • NM_001408443.1:c.665-1214del
  • NM_001408444.1:c.665-1214del
  • NM_001408445.1:c.662-1214del
  • NM_001408446.1:c.662-1214del
  • NM_001408447.1:c.662-1214del
  • NM_001408448.1:c.662-1214del
  • NM_001408450.1:c.662-1214del
  • NM_001408451.1:c.653-1214del
  • NM_001408452.1:c.647-1214del
  • NM_001408453.1:c.647-1214del
  • NM_001408454.1:c.647-1214del
  • NM_001408455.1:c.647-1214del
  • NM_001408456.1:c.647-1214del
  • NM_001408457.1:c.647-1214del
  • NM_001408458.1:c.647-1214del
  • NM_001408459.1:c.647-1214del
  • NM_001408460.1:c.647-1214del
  • NM_001408461.1:c.647-1214del
  • NM_001408462.1:c.644-1214del
  • NM_001408463.1:c.644-1214del
  • NM_001408464.1:c.644-1214del
  • NM_001408465.1:c.644-1214del
  • NM_001408466.1:c.647-1214del
  • NM_001408467.1:c.647-1214del
  • NM_001408468.1:c.644-1214del
  • NM_001408469.1:c.647-1214del
  • NM_001408470.1:c.644-1214del
  • NM_001408472.1:c.788-1214del
  • NM_001408473.1:c.785-1214del
  • NM_001408474.1:c.587-1214del
  • NM_001408475.1:c.584-1214del
  • NM_001408476.1:c.587-1214del
  • NM_001408478.1:c.578-1214del
  • NM_001408479.1:c.578-1214del
  • NM_001408480.1:c.578-1214del
  • NM_001408481.1:c.578-1214del
  • NM_001408482.1:c.578-1214del
  • NM_001408483.1:c.578-1214del
  • NM_001408484.1:c.578-1214del
  • NM_001408485.1:c.578-1214del
  • NM_001408489.1:c.578-1214del
  • NM_001408490.1:c.575-1214del
  • NM_001408491.1:c.575-1214del
  • NM_001408492.1:c.578-1214del
  • NM_001408493.1:c.575-1214del
  • NM_001408494.1:c.548-1214del
  • NM_001408495.1:c.545-1214del
  • NM_001408496.1:c.524-1214del
  • NM_001408497.1:c.524-1214del
  • NM_001408498.1:c.524-1214del
  • NM_001408499.1:c.524-1214del
  • NM_001408500.1:c.524-1214del
  • NM_001408501.1:c.524-1214del
  • NM_001408502.1:c.455-1214del
  • NM_001408503.1:c.521-1214del
  • NM_001408504.1:c.521-1214del
  • NM_001408505.1:c.521-1214del
  • NM_001408506.1:c.461-1214del
  • NM_001408507.1:c.461-1214del
  • NM_001408508.1:c.452-1214del
  • NM_001408509.1:c.452-1214del
  • NM_001408510.1:c.407-1214del
  • NM_001408511.1:c.404-1214del
  • NM_001408512.1:c.284-1214del
  • NM_001408513.1:c.578-1214del
  • NM_001408514.1:c.578-1214del
  • NM_007294.4:c.3285delMANE SELECT
  • NM_007297.4:c.3144del
  • NM_007298.4:c.788-1214del
  • NM_007299.4:c.788-1214del
  • NM_007300.4:c.3285del
  • NP_001394500.1:p.Lys1024fs
  • NP_001394510.1:p.Lys1095fs
  • NP_001394511.1:p.Lys1095fs
  • NP_001394512.1:p.Lys1095fs
  • NP_001394514.1:p.Lys1095fs
  • NP_001394516.1:p.Lys1094fs
  • NP_001394519.1:p.Lys1094fs
  • NP_001394520.1:p.Lys1094fs
  • NP_001394522.1:p.Lys1095fs
  • NP_001394523.1:p.Lys1095fs
  • NP_001394525.1:p.Lys1095fs
  • NP_001394526.1:p.Lys1095fs
  • NP_001394527.1:p.Lys1095fs
  • NP_001394531.1:p.Lys1095fs
  • NP_001394532.1:p.Lys1095fs
  • NP_001394534.1:p.Lys1095fs
  • NP_001394539.1:p.Lys1094fs
  • NP_001394540.1:p.Lys1094fs
  • NP_001394541.1:p.Lys1094fs
  • NP_001394542.1:p.Lys1094fs
  • NP_001394543.1:p.Lys1094fs
  • NP_001394544.1:p.Lys1094fs
  • NP_001394545.1:p.Lys1095fs
  • NP_001394546.1:p.Lys1095fs
  • NP_001394547.1:p.Lys1095fs
  • NP_001394548.1:p.Lys1095fs
  • NP_001394549.1:p.Lys1095fs
  • NP_001394550.1:p.Lys1095fs
  • NP_001394551.1:p.Lys1095fs
  • NP_001394552.1:p.Lys1095fs
  • NP_001394553.1:p.Lys1095fs
  • NP_001394554.1:p.Lys1095fs
  • NP_001394555.1:p.Lys1095fs
  • NP_001394556.1:p.Lys1094fs
  • NP_001394557.1:p.Lys1094fs
  • NP_001394558.1:p.Lys1094fs
  • NP_001394559.1:p.Lys1094fs
  • NP_001394560.1:p.Lys1094fs
  • NP_001394561.1:p.Lys1094fs
  • NP_001394562.1:p.Lys1094fs
  • NP_001394563.1:p.Lys1094fs
  • NP_001394564.1:p.Lys1094fs
  • NP_001394565.1:p.Lys1094fs
  • NP_001394566.1:p.Lys1094fs
  • NP_001394567.1:p.Lys1094fs
  • NP_001394568.1:p.Lys1095fs
  • NP_001394569.1:p.Lys1095fs
  • NP_001394570.1:p.Lys1095fs
  • NP_001394571.1:p.Lys1095fs
  • NP_001394573.1:p.Lys1094fs
  • NP_001394574.1:p.Lys1094fs
  • NP_001394575.1:p.Lys1092fs
  • NP_001394576.1:p.Lys1092fs
  • NP_001394577.1:p.Lys1054fs
  • NP_001394578.1:p.Lys1053fs
  • NP_001394581.1:p.Lys1095fs
  • NP_001394582.1:p.Lys1069fs
  • NP_001394583.1:p.Lys1069fs
  • NP_001394584.1:p.Lys1069fs
  • NP_001394585.1:p.Lys1069fs
  • NP_001394586.1:p.Lys1069fs
  • NP_001394587.1:p.Lys1069fs
  • NP_001394588.1:p.Lys1068fs
  • NP_001394589.1:p.Lys1068fs
  • NP_001394590.1:p.Lys1068fs
  • NP_001394591.1:p.Lys1068fs
  • NP_001394592.1:p.Lys1069fs
  • NP_001394593.1:p.Lys1054fs
  • NP_001394594.1:p.Lys1054fs
  • NP_001394595.1:p.Lys1054fs
  • NP_001394596.1:p.Lys1054fs
  • NP_001394597.1:p.Lys1054fs
  • NP_001394598.1:p.Lys1054fs
  • NP_001394599.1:p.Lys1053fs
  • NP_001394600.1:p.Lys1053fs
  • NP_001394601.1:p.Lys1053fs
  • NP_001394602.1:p.Lys1053fs
  • NP_001394603.1:p.Lys1054fs
  • NP_001394604.1:p.Lys1054fs
  • NP_001394605.1:p.Lys1054fs
  • NP_001394606.1:p.Lys1054fs
  • NP_001394607.1:p.Lys1054fs
  • NP_001394608.1:p.Lys1054fs
  • NP_001394609.1:p.Lys1054fs
  • NP_001394610.1:p.Lys1054fs
  • NP_001394611.1:p.Lys1054fs
  • NP_001394612.1:p.Lys1054fs
  • NP_001394613.1:p.Lys1095fs
  • NP_001394614.1:p.Lys1053fs
  • NP_001394615.1:p.Lys1053fs
  • NP_001394616.1:p.Lys1053fs
  • NP_001394617.1:p.Lys1053fs
  • NP_001394618.1:p.Lys1053fs
  • NP_001394619.1:p.Lys1053fs
  • NP_001394620.1:p.Lys1053fs
  • NP_001394621.1:p.Lys1048fs
  • NP_001394623.1:p.Lys1048fs
  • NP_001394624.1:p.Lys1048fs
  • NP_001394625.1:p.Lys1048fs
  • NP_001394626.1:p.Lys1048fs
  • NP_001394627.1:p.Lys1048fs
  • NP_001394653.1:p.Lys1048fs
  • NP_001394654.1:p.Lys1048fs
  • NP_001394655.1:p.Lys1048fs
  • NP_001394656.1:p.Lys1048fs
  • NP_001394657.1:p.Lys1048fs
  • NP_001394658.1:p.Lys1048fs
  • NP_001394659.1:p.Lys1048fs
  • NP_001394660.1:p.Lys1048fs
  • NP_001394661.1:p.Lys1048fs
  • NP_001394662.1:p.Lys1048fs
  • NP_001394663.1:p.Lys1048fs
  • NP_001394664.1:p.Lys1048fs
  • NP_001394665.1:p.Lys1048fs
  • NP_001394666.1:p.Lys1048fs
  • NP_001394667.1:p.Lys1048fs
  • NP_001394668.1:p.Lys1048fs
  • NP_001394669.1:p.Lys1047fs
  • NP_001394670.1:p.Lys1047fs
  • NP_001394671.1:p.Lys1047fs
  • NP_001394672.1:p.Lys1047fs
  • NP_001394673.1:p.Lys1047fs
  • NP_001394674.1:p.Lys1047fs
  • NP_001394675.1:p.Lys1047fs
  • NP_001394676.1:p.Lys1047fs
  • NP_001394677.1:p.Lys1047fs
  • NP_001394678.1:p.Lys1047fs
  • NP_001394679.1:p.Lys1048fs
  • NP_001394680.1:p.Lys1048fs
  • NP_001394681.1:p.Lys1048fs
  • NP_001394767.1:p.Lys1047fs
  • NP_001394768.1:p.Lys1047fs
  • NP_001394770.1:p.Lys1047fs
  • NP_001394771.1:p.Lys1047fs
  • NP_001394772.1:p.Lys1047fs
  • NP_001394773.1:p.Lys1047fs
  • NP_001394774.1:p.Lys1047fs
  • NP_001394775.1:p.Lys1047fs
  • NP_001394776.1:p.Lys1047fs
  • NP_001394777.1:p.Lys1047fs
  • NP_001394778.1:p.Lys1047fs
  • NP_001394779.1:p.Lys1048fs
  • NP_001394780.1:p.Lys1048fs
  • NP_001394781.1:p.Lys1048fs
  • NP_001394782.1:p.Lys1024fs
  • NP_001394783.1:p.Lys1095fs
  • NP_001394787.1:p.Lys1095fs
  • NP_001394788.1:p.Lys1095fs
  • NP_001394789.1:p.Lys1094fs
  • NP_001394790.1:p.Lys1094fs
  • NP_001394791.1:p.Lys1028fs
  • NP_001394792.1:p.Lys1054fs
  • NP_001394803.1:p.Lys1027fs
  • NP_001394804.1:p.Lys1027fs
  • NP_001394808.1:p.Lys1025fs
  • NP_001394810.1:p.Lys1025fs
  • NP_001394811.1:p.Lys1025fs
  • NP_001394813.1:p.Lys1025fs
  • NP_001394814.1:p.Lys1025fs
  • NP_001394815.1:p.Lys1025fs
  • NP_001394816.1:p.Lys1025fs
  • NP_001394818.1:p.Lys1025fs
  • NP_001394823.1:p.Lys1024fs
  • NP_001394824.1:p.Lys1024fs
  • NP_001394825.1:p.Lys1024fs
  • NP_001394826.1:p.Lys1024fs
  • NP_001394827.1:p.Lys1024fs
  • NP_001394828.1:p.Lys1024fs
  • NP_001394829.1:p.Lys1025fs
  • NP_001394831.1:p.Lys1025fs
  • NP_001394833.1:p.Lys1025fs
  • NP_001394835.1:p.Lys1025fs
  • NP_001394836.1:p.Lys1025fs
  • NP_001394837.1:p.Lys1025fs
  • NP_001394838.1:p.Lys1025fs
  • NP_001394839.1:p.Lys1025fs
  • NP_001394844.1:p.Lys1024fs
  • NP_001394845.1:p.Lys1024fs
  • NP_001394846.1:p.Lys1024fs
  • NP_001394847.1:p.Lys1024fs
  • NP_001394848.1:p.Lys1054fs
  • NP_001394849.1:p.Lys1007fs
  • NP_001394850.1:p.Lys1007fs
  • NP_001394851.1:p.Lys1007fs
  • NP_001394852.1:p.Lys1007fs
  • NP_001394853.1:p.Lys1007fs
  • NP_001394854.1:p.Lys1007fs
  • NP_001394855.1:p.Lys1007fs
  • NP_001394856.1:p.Lys1007fs
  • NP_001394857.1:p.Lys1007fs
  • NP_001394858.1:p.Lys1007fs
  • NP_001394859.1:p.Lys1006fs
  • NP_001394860.1:p.Lys1006fs
  • NP_001394861.1:p.Lys1006fs
  • NP_001394862.1:p.Lys1007fs
  • NP_001394863.1:p.Lys1006fs
  • NP_001394864.1:p.Lys1007fs
  • NP_001394865.1:p.Lys1006fs
  • NP_001394866.1:p.Lys1054fs
  • NP_001394867.1:p.Lys1054fs
  • NP_001394868.1:p.Lys1054fs
  • NP_001394869.1:p.Lys1053fs
  • NP_001394870.1:p.Lys1053fs
  • NP_001394871.1:p.Lys1048fs
  • NP_001394872.1:p.Lys1047fs
  • NP_001394873.1:p.Lys1048fs
  • NP_001394874.1:p.Lys1048fs
  • NP_001394875.1:p.Lys984fs
  • NP_001394876.1:p.Lys984fs
  • NP_001394877.1:p.Lys984fs
  • NP_001394878.1:p.Lys984fs
  • NP_001394879.1:p.Lys984fs
  • NP_001394880.1:p.Lys984fs
  • NP_001394881.1:p.Lys984fs
  • NP_001394882.1:p.Lys984fs
  • NP_001394883.1:p.Lys983fs
  • NP_001394884.1:p.Lys983fs
  • NP_001394885.1:p.Lys983fs
  • NP_001394886.1:p.Lys984fs
  • NP_001394887.1:p.Lys983fs
  • NP_001394888.1:p.Lys968fs
  • NP_001394889.1:p.Lys968fs
  • NP_001394891.1:p.Lys967fs
  • NP_001394892.1:p.Lys968fs
  • NP_001394893.1:p.Lys1047fs
  • NP_001394894.1:p.Lys927fs
  • NP_001394895.1:p.Lys799fs
  • NP_001394896.1:p.Lys799fs
  • NP_009225.1:p.Lys1095Asnfs
  • NP_009225.1:p.Lys1095fs
  • NP_009228.2:p.Lys1048fs
  • NP_009231.2:p.Lys1095fs
  • LRG_292t1:c.3283del
  • LRG_292:g.125738del
  • LRG_292p1:p.Lys1095Asnfs
  • NC_000017.10:g.41244265del
  • NM_007294.3:c.3283delA
  • NM_007294.3:c.3285delA
  • NM_007294.4:c.3285del
  • NR_027676.1:n.3419delA
  • p.Lys1095Asnfs*14
Protein change:
K1006fs
Links:
dbSNP: rs397509051
NCBI 1000 Genomes Browser:
rs397509051
Molecular consequence:
  • NM_001407571.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3276del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3276del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.3204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.3204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.3204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.3204del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.3207del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.3084del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.3081del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.3081del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.3075del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.3072del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.3162del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.3159del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2949del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2949del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2949del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2952del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2949del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2904del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2904del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2904del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.3141del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2781del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.3144del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3285del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-107del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-107del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1223del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1214del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568415GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 3, 2016) 		germlineclinical testing

Citation Link,

SCV000600324Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Jul 11, 2022) 		unknownclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

Papi L, Putignano AL, Congregati C, Zanna I, Sera F, Morrone D, Falchetti M, Turco MR, Ottini L, Palli D, Genuardi M.

Breast Cancer Res Treat. 2009 Oct;117(3):497-504. doi: 10.1007/s10549-008-0190-3. Epub 2008 Sep 27.

PubMed [citation]
PMID:
18821011

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

Janavičius R.

EPMA J. 2010 Sep;1(3):397-412. doi: 10.1007/s13167-010-0037-y. Epub 2010 Jun 27.

PubMed [citation]
PMID:
23199084
PMCID:
PMC3405339
See all PubMed Citations (12)

Details of each submission

From GeneDx, SCV000568415.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This deletion of one nucleotide in BRCA1 is denoted c.3285delA at the cDNA level and p.Lys1095AsnfsX14 (K1095NfsX14) at the protein level. The normal sequence, with the base that is deleted in brackets, is ATAA[delA]CAAA. The deletion causes a frameshift which changes a Lysine to an Asparagine at codon 1095, and creates a premature stop codon at position 14 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3285delA, previously published as 3404delA using alternate nomenclature, has been reported in association with Hereditary Breast and Ovarian Cancer (Papi 2009, Caux-Moncoutier 2011). We consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600324.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with hereditary breast and/or ovarian cancer (PMIDs: 34026625 (2021), 32438681 (2020), 31336956 (2019), 30720863 (2019), 24065113 (2014), 18821011 (2009)). It has also been reported in individuals with breast cancer as well as in unaffected controls in a breast cancer association study (PMID: 33471991 (2021), see also LOVD (http://databases.lovd.nl/shared/genes/BRCA1)). This variant is described as a founder variant in Italy (PMIDs: 24312913 (2013), 23199084 (2010), 18821011 (2009)). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Sep 16, 2024