ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1166del (p.Ser389fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1166del (p.Ser389fs)
Variation ID: 54155 Accession: VCV000054155.4
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094365 (GRCh38) [ NCBI UCSC ] 17: 41246382 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Sep 24, 2016 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.1166del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser389fs frameshift NM_001407571.1:c.953del NP_001394500.1:p.Ser318fs frameshift NM_001407581.1:c.1166del NP_001394510.1:p.Ser389fs frameshift NM_001407582.1:c.1166del NP_001394511.1:p.Ser389fs frameshift NM_001407583.1:c.1166del NP_001394512.1:p.Ser389fs frameshift NM_001407585.1:c.1166del NP_001394514.1:p.Ser389fs frameshift NM_001407587.1:c.1163del NP_001394516.1:p.Ser388fs frameshift NM_001407590.1:c.1163del NP_001394519.1:p.Ser388fs frameshift NM_001407591.1:c.1163del NP_001394520.1:p.Ser388fs frameshift NM_001407593.1:c.1166del NP_001394522.1:p.Ser389fs frameshift NM_001407594.1:c.1166del NP_001394523.1:p.Ser389fs frameshift NM_001407596.1:c.1166del NP_001394525.1:p.Ser389fs frameshift NM_001407597.1:c.1166del NP_001394526.1:p.Ser389fs frameshift NM_001407598.1:c.1166del NP_001394527.1:p.Ser389fs frameshift NM_001407602.1:c.1166del NP_001394531.1:p.Ser389fs frameshift NM_001407603.1:c.1166del NP_001394532.1:p.Ser389fs frameshift NM_001407605.1:c.1166del NP_001394534.1:p.Ser389fs frameshift NM_001407610.1:c.1163del NP_001394539.1:p.Ser388fs frameshift NM_001407611.1:c.1163del NP_001394540.1:p.Ser388fs frameshift NM_001407612.1:c.1163del NP_001394541.1:p.Ser388fs frameshift NM_001407613.1:c.1163del NP_001394542.1:p.Ser388fs frameshift NM_001407614.1:c.1163del NP_001394543.1:p.Ser388fs frameshift NM_001407615.1:c.1163del NP_001394544.1:p.Ser388fs frameshift NM_001407616.1:c.1166del NP_001394545.1:p.Ser389fs frameshift NM_001407617.1:c.1166del NP_001394546.1:p.Ser389fs frameshift NM_001407618.1:c.1166del NP_001394547.1:p.Ser389fs frameshift NM_001407619.1:c.1166del NP_001394548.1:p.Ser389fs frameshift NM_001407620.1:c.1166del NP_001394549.1:p.Ser389fs frameshift NM_001407621.1:c.1166del NP_001394550.1:p.Ser389fs frameshift NM_001407622.1:c.1166del NP_001394551.1:p.Ser389fs frameshift NM_001407623.1:c.1166del NP_001394552.1:p.Ser389fs frameshift NM_001407624.1:c.1166del NP_001394553.1:p.Ser389fs frameshift NM_001407625.1:c.1166del NP_001394554.1:p.Ser389fs frameshift NM_001407626.1:c.1166del NP_001394555.1:p.Ser389fs frameshift NM_001407627.1:c.1163del NP_001394556.1:p.Ser388fs frameshift NM_001407628.1:c.1163del NP_001394557.1:p.Ser388fs frameshift NM_001407629.1:c.1163del NP_001394558.1:p.Ser388fs frameshift NM_001407630.1:c.1163del NP_001394559.1:p.Ser388fs frameshift NM_001407631.1:c.1163del NP_001394560.1:p.Ser388fs frameshift NM_001407632.1:c.1163del NP_001394561.1:p.Ser388fs frameshift NM_001407633.1:c.1163del NP_001394562.1:p.Ser388fs frameshift NM_001407634.1:c.1163del NP_001394563.1:p.Ser388fs frameshift NM_001407635.1:c.1163del NP_001394564.1:p.Ser388fs frameshift NM_001407636.1:c.1163del NP_001394565.1:p.Ser388fs frameshift NM_001407637.1:c.1163del NP_001394566.1:p.Ser388fs frameshift NM_001407638.1:c.1163del NP_001394567.1:p.Ser388fs frameshift NM_001407639.1:c.1166del NP_001394568.1:p.Ser389fs frameshift NM_001407640.1:c.1166del NP_001394569.1:p.Ser389fs frameshift NM_001407641.1:c.1166del NP_001394570.1:p.Ser389fs frameshift NM_001407642.1:c.1166del NP_001394571.1:p.Ser389fs frameshift NM_001407644.1:c.1163del NP_001394573.1:p.Ser388fs frameshift NM_001407645.1:c.1163del NP_001394574.1:p.Ser388fs frameshift NM_001407646.1:c.1157del NP_001394575.1:p.Ser386fs frameshift NM_001407647.1:c.1157del NP_001394576.1:p.Ser386fs frameshift NM_001407648.1:c.1043del NP_001394577.1:p.Ser348fs frameshift NM_001407649.1:c.1040del NP_001394578.1:p.Ser347fs frameshift NM_001407652.1:c.1166del NP_001394581.1:p.Ser389fs frameshift NM_001407653.1:c.1088del NP_001394582.1:p.Ser363fs frameshift NM_001407654.1:c.1088del NP_001394583.1:p.Ser363fs frameshift NM_001407655.1:c.1088del NP_001394584.1:p.Ser363fs frameshift NM_001407656.1:c.1088del NP_001394585.1:p.Ser363fs frameshift NM_001407657.1:c.1088del NP_001394586.1:p.Ser363fs frameshift NM_001407658.1:c.1088del NP_001394587.1:p.Ser363fs frameshift NM_001407659.1:c.1085del NP_001394588.1:p.Ser362fs frameshift NM_001407660.1:c.1085del NP_001394589.1:p.Ser362fs frameshift NM_001407661.1:c.1085del NP_001394590.1:p.Ser362fs frameshift NM_001407662.1:c.1085del NP_001394591.1:p.Ser362fs frameshift NM_001407663.1:c.1088del NP_001394592.1:p.Ser363fs frameshift NM_001407664.1:c.1043del NP_001394593.1:p.Ser348fs frameshift NM_001407665.1:c.1043del NP_001394594.1:p.Ser348fs frameshift NM_001407666.1:c.1043del NP_001394595.1:p.Ser348fs frameshift NM_001407667.1:c.1043del NP_001394596.1:p.Ser348fs frameshift NM_001407668.1:c.1043del NP_001394597.1:p.Ser348fs frameshift NM_001407669.1:c.1043del NP_001394598.1:p.Ser348fs frameshift NM_001407670.1:c.1040del NP_001394599.1:p.Ser347fs frameshift NM_001407671.1:c.1040del NP_001394600.1:p.Ser347fs frameshift NM_001407672.1:c.1040del NP_001394601.1:p.Ser347fs frameshift NM_001407673.1:c.1040del NP_001394602.1:p.Ser347fs frameshift NM_001407674.1:c.1043del NP_001394603.1:p.Ser348fs frameshift NM_001407675.1:c.1043del NP_001394604.1:p.Ser348fs frameshift NM_001407676.1:c.1043del NP_001394605.1:p.Ser348fs frameshift NM_001407677.1:c.1043del NP_001394606.1:p.Ser348fs frameshift NM_001407678.1:c.1043del NP_001394607.1:p.Ser348fs frameshift NM_001407679.1:c.1043del NP_001394608.1:p.Ser348fs frameshift NM_001407680.1:c.1043del NP_001394609.1:p.Ser348fs frameshift NM_001407681.1:c.1043del NP_001394610.1:p.Ser348fs frameshift NM_001407682.1:c.1043del NP_001394611.1:p.Ser348fs frameshift NM_001407683.1:c.1043del NP_001394612.1:p.Ser348fs frameshift NM_001407684.1:c.1166del NP_001394613.1:p.Ser389fs frameshift NM_001407685.1:c.1040del NP_001394614.1:p.Ser347fs frameshift NM_001407686.1:c.1040del NP_001394615.1:p.Ser347fs frameshift NM_001407687.1:c.1040del NP_001394616.1:p.Ser347fs frameshift NM_001407688.1:c.1040del NP_001394617.1:p.Ser347fs frameshift NM_001407689.1:c.1040del NP_001394618.1:p.Ser347fs frameshift NM_001407690.1:c.1040del NP_001394619.1:p.Ser347fs frameshift NM_001407691.1:c.1040del NP_001394620.1:p.Ser347fs frameshift NM_001407692.1:c.1025del NP_001394621.1:p.Ser342fs frameshift NM_001407694.1:c.1025del NP_001394623.1:p.Ser342fs frameshift NM_001407695.1:c.1025del NP_001394624.1:p.Ser342fs frameshift NM_001407696.1:c.1025del NP_001394625.1:p.Ser342fs frameshift NM_001407697.1:c.1025del NP_001394626.1:p.Ser342fs frameshift NM_001407698.1:c.1025del NP_001394627.1:p.Ser342fs frameshift NM_001407724.1:c.1025del NP_001394653.1:p.Ser342fs frameshift NM_001407725.1:c.1025del NP_001394654.1:p.Ser342fs frameshift NM_001407726.1:c.1025del NP_001394655.1:p.Ser342fs frameshift NM_001407727.1:c.1025del NP_001394656.1:p.Ser342fs frameshift NM_001407728.1:c.1025del NP_001394657.1:p.Ser342fs frameshift NM_001407729.1:c.1025del NP_001394658.1:p.Ser342fs frameshift NM_001407730.1:c.1025del NP_001394659.1:p.Ser342fs frameshift NM_001407731.1:c.1025del NP_001394660.1:p.Ser342fs frameshift NM_001407732.1:c.1025del NP_001394661.1:p.Ser342fs frameshift NM_001407733.1:c.1025del NP_001394662.1:p.Ser342fs frameshift NM_001407734.1:c.1025del NP_001394663.1:p.Ser342fs frameshift NM_001407735.1:c.1025del NP_001394664.1:p.Ser342fs frameshift NM_001407736.1:c.1025del NP_001394665.1:p.Ser342fs frameshift NM_001407737.1:c.1025del NP_001394666.1:p.Ser342fs frameshift NM_001407738.1:c.1025del NP_001394667.1:p.Ser342fs frameshift NM_001407739.1:c.1025del NP_001394668.1:p.Ser342fs frameshift NM_001407740.1:c.1022del NP_001394669.1:p.Ser341fs frameshift NM_001407741.1:c.1022del NP_001394670.1:p.Ser341fs frameshift NM_001407742.1:c.1022del NP_001394671.1:p.Ser341fs frameshift NM_001407743.1:c.1022del NP_001394672.1:p.Ser341fs frameshift NM_001407744.1:c.1022del NP_001394673.1:p.Ser341fs frameshift NM_001407745.1:c.1022del NP_001394674.1:p.Ser341fs frameshift NM_001407746.1:c.1022del NP_001394675.1:p.Ser341fs frameshift NM_001407747.1:c.1022del NP_001394676.1:p.Ser341fs frameshift NM_001407748.1:c.1022del NP_001394677.1:p.Ser341fs frameshift NM_001407749.1:c.1022del NP_001394678.1:p.Ser341fs frameshift NM_001407750.1:c.1025del NP_001394679.1:p.Ser342fs frameshift NM_001407751.1:c.1025del NP_001394680.1:p.Ser342fs frameshift NM_001407752.1:c.1025del NP_001394681.1:p.Ser342fs frameshift NM_001407838.1:c.1022del NP_001394767.1:p.Ser341fs frameshift NM_001407839.1:c.1022del NP_001394768.1:p.Ser341fs frameshift NM_001407841.1:c.1022del NP_001394770.1:p.Ser341fs frameshift NM_001407842.1:c.1022del NP_001394771.1:p.Ser341fs frameshift NM_001407843.1:c.1022del NP_001394772.1:p.Ser341fs frameshift NM_001407844.1:c.1022del NP_001394773.1:p.Ser341fs frameshift NM_001407845.1:c.1022del NP_001394774.1:p.Ser341fs frameshift NM_001407846.1:c.1022del NP_001394775.1:p.Ser341fs frameshift NM_001407847.1:c.1022del NP_001394776.1:p.Ser341fs frameshift NM_001407848.1:c.1022del NP_001394777.1:p.Ser341fs frameshift NM_001407849.1:c.1022del NP_001394778.1:p.Ser341fs frameshift NM_001407850.1:c.1025del NP_001394779.1:p.Ser342fs frameshift NM_001407851.1:c.1025del NP_001394780.1:p.Ser342fs frameshift NM_001407852.1:c.1025del NP_001394781.1:p.Ser342fs frameshift NM_001407853.1:c.953del NP_001394782.1:p.Ser318fs frameshift NM_001407854.1:c.1166del NP_001394783.1:p.Ser389fs frameshift NM_001407858.1:c.1166del NP_001394787.1:p.Ser389fs frameshift NM_001407859.1:c.1166del NP_001394788.1:p.Ser389fs frameshift NM_001407860.1:c.1163del NP_001394789.1:p.Ser388fs frameshift NM_001407861.1:c.1163del NP_001394790.1:p.Ser388fs frameshift NM_001407862.1:c.965del NP_001394791.1:p.Ser322fs frameshift NM_001407863.1:c.1043del NP_001394792.1:p.Ser348fs frameshift NM_001407874.1:c.962del NP_001394803.1:p.Ser321fs frameshift NM_001407875.1:c.962del NP_001394804.1:p.Ser321fs frameshift NM_001407879.1:c.956del NP_001394808.1:p.Ser319fs frameshift NM_001407881.1:c.956del NP_001394810.1:p.Ser319fs frameshift NM_001407882.1:c.956del NP_001394811.1:p.Ser319fs frameshift NM_001407884.1:c.956del NP_001394813.1:p.Ser319fs frameshift NM_001407885.1:c.956del NP_001394814.1:p.Ser319fs frameshift NM_001407886.1:c.956del NP_001394815.1:p.Ser319fs frameshift NM_001407887.1:c.956del NP_001394816.1:p.Ser319fs frameshift NM_001407889.1:c.956del NP_001394818.1:p.Ser319fs frameshift NM_001407894.1:c.953del NP_001394823.1:p.Ser318fs frameshift NM_001407895.1:c.953del NP_001394824.1:p.Ser318fs frameshift NM_001407896.1:c.953del NP_001394825.1:p.Ser318fs frameshift NM_001407897.1:c.953del NP_001394826.1:p.Ser318fs frameshift NM_001407898.1:c.953del NP_001394827.1:p.Ser318fs frameshift NM_001407899.1:c.953del NP_001394828.1:p.Ser318fs frameshift NM_001407900.1:c.956del NP_001394829.1:p.Ser319fs frameshift NM_001407902.1:c.956del NP_001394831.1:p.Ser319fs frameshift NM_001407904.1:c.956del NP_001394833.1:p.Ser319fs frameshift NM_001407906.1:c.956del NP_001394835.1:p.Ser319fs frameshift NM_001407907.1:c.956del NP_001394836.1:p.Ser319fs frameshift NM_001407908.1:c.956del NP_001394837.1:p.Ser319fs frameshift NM_001407909.1:c.956del NP_001394838.1:p.Ser319fs frameshift NM_001407910.1:c.956del NP_001394839.1:p.Ser319fs frameshift NM_001407915.1:c.953del NP_001394844.1:p.Ser318fs frameshift NM_001407916.1:c.953del NP_001394845.1:p.Ser318fs frameshift NM_001407917.1:c.953del NP_001394846.1:p.Ser318fs frameshift NM_001407918.1:c.953del NP_001394847.1:p.Ser318fs frameshift NM_001407919.1:c.1043del NP_001394848.1:p.Ser348fs frameshift NM_001407920.1:c.902del NP_001394849.1:p.Ser301fs frameshift NM_001407921.1:c.902del NP_001394850.1:p.Ser301fs frameshift NM_001407922.1:c.902del NP_001394851.1:p.Ser301fs frameshift NM_001407923.1:c.902del NP_001394852.1:p.Ser301fs frameshift NM_001407924.1:c.902del NP_001394853.1:p.Ser301fs frameshift NM_001407925.1:c.902del NP_001394854.1:p.Ser301fs frameshift NM_001407926.1:c.902del NP_001394855.1:p.Ser301fs frameshift NM_001407927.1:c.902del NP_001394856.1:p.Ser301fs frameshift NM_001407928.1:c.902del NP_001394857.1:p.Ser301fs frameshift NM_001407929.1:c.902del NP_001394858.1:p.Ser301fs frameshift NM_001407930.1:c.899del NP_001394859.1:p.Ser300fs frameshift NM_001407931.1:c.899del NP_001394860.1:p.Ser300fs frameshift NM_001407932.1:c.899del NP_001394861.1:p.Ser300fs frameshift NM_001407933.1:c.902del NP_001394862.1:p.Ser301fs frameshift NM_001407934.1:c.899del NP_001394863.1:p.Ser300fs frameshift NM_001407935.1:c.902del NP_001394864.1:p.Ser301fs frameshift NM_001407936.1:c.899del NP_001394865.1:p.Ser300fs frameshift NM_001407937.1:c.1043del NP_001394866.1:p.Ser348fs frameshift NM_001407938.1:c.1043del NP_001394867.1:p.Ser348fs frameshift NM_001407939.1:c.1043del NP_001394868.1:p.Ser348fs frameshift NM_001407940.1:c.1040del NP_001394869.1:p.Ser347fs frameshift NM_001407941.1:c.1040del NP_001394870.1:p.Ser347fs frameshift NM_001407942.1:c.1025del NP_001394871.1:p.Ser342fs frameshift NM_001407943.1:c.1022del NP_001394872.1:p.Ser341fs frameshift NM_001407944.1:c.1025del NP_001394873.1:p.Ser342fs frameshift NM_001407945.1:c.1025del NP_001394874.1:p.Ser342fs frameshift NM_001407946.1:c.833del NP_001394875.1:p.Ser278fs frameshift NM_001407947.1:c.833del NP_001394876.1:p.Ser278fs frameshift NM_001407948.1:c.833del NP_001394877.1:p.Ser278fs frameshift NM_001407949.1:c.833del NP_001394878.1:p.Ser278fs frameshift NM_001407950.1:c.833del NP_001394879.1:p.Ser278fs frameshift NM_001407951.1:c.833del NP_001394880.1:p.Ser278fs frameshift NM_001407952.1:c.833del NP_001394881.1:p.Ser278fs frameshift NM_001407953.1:c.833del NP_001394882.1:p.Ser278fs frameshift NM_001407954.1:c.830del NP_001394883.1:p.Ser277fs frameshift NM_001407955.1:c.830del NP_001394884.1:p.Ser277fs frameshift NM_001407956.1:c.830del NP_001394885.1:p.Ser277fs frameshift NM_001407957.1:c.833del NP_001394886.1:p.Ser278fs frameshift NM_001407958.1:c.830del NP_001394887.1:p.Ser277fs frameshift NM_001407959.1:c.785del NP_001394888.1:p.Ser262fs frameshift NM_001407960.1:c.785del NP_001394889.1:p.Ser262fs frameshift NM_001407962.1:c.782del NP_001394891.1:p.Ser261fs frameshift NM_001407963.1:c.785del NP_001394892.1:p.Ser262fs frameshift NM_001407964.1:c.1022del NP_001394893.1:p.Ser341fs frameshift NM_001407965.1:c.662del NP_001394894.1:p.Ser221fs frameshift NM_001407966.1:c.278del NP_001394895.1:p.Ser93fs frameshift NM_001407967.1:c.278del NP_001394896.1:p.Ser93fs frameshift NM_001407968.1:c.787+379del intron variant NM_001407969.1:c.787+379del intron variant NM_001407970.1:c.787+379del intron variant NM_001407971.1:c.787+379del intron variant NM_001407972.1:c.784+379del intron variant NM_001407973.1:c.787+379del intron variant NM_001407974.1:c.787+379del intron variant NM_001407975.1:c.787+379del intron variant NM_001407976.1:c.787+379del intron variant NM_001407977.1:c.787+379del intron variant NM_001407978.1:c.787+379del intron variant NM_001407979.1:c.787+379del intron variant NM_001407980.1:c.787+379del intron variant NM_001407981.1:c.787+379del intron variant NM_001407982.1:c.787+379del intron variant NM_001407983.1:c.787+379del intron variant NM_001407984.1:c.784+379del intron variant NM_001407985.1:c.784+379del intron variant NM_001407986.1:c.784+379del intron variant NM_001407990.1:c.787+379del intron variant NM_001407991.1:c.784+379del intron variant NM_001407992.1:c.784+379del intron variant NM_001407993.1:c.787+379del intron variant NM_001408392.1:c.784+379del intron variant NM_001408396.1:c.784+379del intron variant NM_001408397.1:c.784+379del intron variant NM_001408398.1:c.784+379del intron variant NM_001408399.1:c.784+379del intron variant NM_001408400.1:c.784+379del intron variant NM_001408401.1:c.784+379del intron variant NM_001408402.1:c.784+379del intron variant NM_001408403.1:c.787+379del intron variant NM_001408404.1:c.787+379del intron variant NM_001408406.1:c.790+376del intron variant NM_001408407.1:c.784+379del intron variant NM_001408408.1:c.778+379del intron variant NM_001408409.1:c.709+379del intron variant NM_001408410.1:c.646+379del intron variant NM_001408411.1:c.709+379del intron variant NM_001408412.1:c.709+379del intron variant NM_001408413.1:c.706+379del intron variant NM_001408414.1:c.709+379del intron variant NM_001408415.1:c.709+379del intron variant NM_001408416.1:c.706+379del intron variant NM_001408418.1:c.670+1481del intron variant NM_001408419.1:c.670+1481del intron variant NM_001408420.1:c.670+1481del intron variant NM_001408421.1:c.667+1481del intron variant NM_001408422.1:c.670+1481del intron variant NM_001408423.1:c.670+1481del intron variant NM_001408424.1:c.667+1481del intron variant NM_001408425.1:c.664+379del intron variant NM_001408426.1:c.664+379del intron variant NM_001408427.1:c.664+379del intron variant NM_001408428.1:c.664+379del intron variant NM_001408429.1:c.664+379del intron variant NM_001408430.1:c.664+379del intron variant NM_001408431.1:c.667+1481del intron variant NM_001408432.1:c.661+379del intron variant NM_001408433.1:c.661+379del intron variant NM_001408434.1:c.661+379del intron variant NM_001408435.1:c.661+379del intron variant NM_001408436.1:c.664+379del intron variant NM_001408437.1:c.664+379del intron variant NM_001408438.1:c.664+379del intron variant NM_001408439.1:c.664+379del intron variant NM_001408440.1:c.664+379del intron variant NM_001408441.1:c.664+379del intron variant NM_001408442.1:c.664+379del intron variant NM_001408443.1:c.664+379del intron variant NM_001408444.1:c.664+379del intron variant NM_001408445.1:c.661+379del intron variant NM_001408446.1:c.661+379del intron variant NM_001408447.1:c.661+379del intron variant NM_001408448.1:c.661+379del intron variant NM_001408450.1:c.661+379del intron variant NM_001408451.1:c.652+379del intron variant NM_001408452.1:c.646+379del intron variant NM_001408453.1:c.646+379del intron variant NM_001408454.1:c.646+379del intron variant NM_001408455.1:c.646+379del intron variant NM_001408456.1:c.646+379del intron variant NM_001408457.1:c.646+379del intron variant NM_001408458.1:c.646+379del intron variant NM_001408459.1:c.646+379del intron variant NM_001408460.1:c.646+379del intron variant NM_001408461.1:c.646+379del intron variant NM_001408462.1:c.643+379del intron variant NM_001408463.1:c.643+379del intron variant NM_001408464.1:c.643+379del intron variant NM_001408465.1:c.643+379del intron variant NM_001408466.1:c.646+379del intron variant NM_001408467.1:c.646+379del intron variant NM_001408468.1:c.643+379del intron variant NM_001408469.1:c.646+379del intron variant NM_001408470.1:c.643+379del intron variant NM_001408472.1:c.787+379del intron variant NM_001408473.1:c.784+379del intron variant NM_001408474.1:c.586+379del intron variant NM_001408475.1:c.583+379del intron variant NM_001408476.1:c.586+379del intron variant NM_001408478.1:c.577+379del intron variant NM_001408479.1:c.577+379del intron variant NM_001408480.1:c.577+379del intron variant NM_001408481.1:c.577+379del intron variant NM_001408482.1:c.577+379del intron variant NM_001408483.1:c.577+379del intron variant NM_001408484.1:c.577+379del intron variant NM_001408485.1:c.577+379del intron variant NM_001408489.1:c.577+379del intron variant NM_001408490.1:c.574+379del intron variant NM_001408491.1:c.574+379del intron variant NM_001408492.1:c.577+379del intron variant NM_001408493.1:c.574+379del intron variant NM_001408494.1:c.548-3333del intron variant NM_001408495.1:c.545-3333del intron variant NM_001408496.1:c.523+379del intron variant NM_001408497.1:c.523+379del intron variant NM_001408498.1:c.523+379del intron variant NM_001408499.1:c.523+379del intron variant NM_001408500.1:c.523+379del intron variant NM_001408501.1:c.523+379del intron variant NM_001408502.1:c.454+379del intron variant NM_001408503.1:c.520+379del intron variant NM_001408504.1:c.520+379del intron variant NM_001408505.1:c.520+379del intron variant NM_001408506.1:c.460+1481del intron variant NM_001408507.1:c.460+1481del intron variant NM_001408508.1:c.451+379del intron variant NM_001408509.1:c.451+379del intron variant NM_001408510.1:c.406+379del intron variant NM_001408511.1:c.404-3333del intron variant NM_001408512.1:c.283+379del intron variant NM_001408513.1:c.577+379del intron variant NM_001408514.1:c.577+379del intron variant NM_007297.4:c.1025del NP_009228.2:p.Ser342fs frameshift NM_007298.4:c.787+379del intron variant NM_007299.4:c.787+379del intron variant NM_007300.4:c.1166del NP_009231.2:p.Ser389fs frameshift NR_027676.1:n.1302delG NC_000017.11:g.43094365del NC_000017.10:g.41246382del NG_005905.2:g.123619del LRG_292:g.123619del LRG_292t1:c.1166del LRG_292p1:p.Ser389Metfs U14680.1:n.1285delG - Protein change
- S342fs, S389fs, S221fs, S277fs, S278fs, S319fs, S347fs, S348fs, S363fs, S388fs, S261fs, S262fs, S318fs, S321fs, S362fs, S386fs, S341fs, S300fs, S301fs, S322fs, S93fs
- Other names
- 1285delG
- Canonical SPDI
- NC_000017.11:43094364:C:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
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Sep 8, 2016 | RCV000111563.11 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 08, 2016)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299553.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 03, 2005)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144026.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 5
Ethnicity/Population group: Central European
Geographic origin: Slovakia
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs273897653 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.