ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)
Variation ID: 17683 Accession: VCV000017683.42
- Type and length
-
Deletion, 4 bp
- Location
-
Cytogenetic: 17q21.31 17: 43094685-43094688 (GRCh38) [ NCBI UCSC ] 17: 41246702-41246705 (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 4, 2013 Aug 25, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.843_846del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser282fs frameshift NM_001407571.1:c.630_633del NP_001394500.1:p.Ser211fs frameshift NM_001407581.1:c.843_846del NP_001394510.1:p.Ser282fs frameshift NM_001407582.1:c.843_846del NP_001394511.1:p.Ser282fs frameshift NM_001407583.1:c.843_846del NP_001394512.1:p.Ser282fs frameshift NM_001407585.1:c.843_846del NP_001394514.1:p.Ser282fs frameshift NM_001407587.1:c.840_843del NP_001394516.1:p.Ser281fs frameshift NM_001407590.1:c.840_843del NP_001394519.1:p.Ser281fs frameshift NM_001407591.1:c.840_843del NP_001394520.1:p.Ser281fs frameshift NM_001407593.1:c.843_846del NP_001394522.1:p.Ser282fs frameshift NM_001407594.1:c.843_846del NP_001394523.1:p.Ser282fs frameshift NM_001407596.1:c.843_846del NP_001394525.1:p.Ser282fs frameshift NM_001407597.1:c.843_846del NP_001394526.1:p.Ser282fs frameshift NM_001407598.1:c.843_846del NP_001394527.1:p.Ser282fs frameshift NM_001407602.1:c.843_846del NP_001394531.1:p.Ser282fs frameshift NM_001407603.1:c.843_846del NP_001394532.1:p.Ser282fs frameshift NM_001407605.1:c.843_846del NP_001394534.1:p.Ser282fs frameshift NM_001407610.1:c.840_843del NP_001394539.1:p.Ser281fs frameshift NM_001407611.1:c.840_843del NP_001394540.1:p.Ser281fs frameshift NM_001407612.1:c.840_843del NP_001394541.1:p.Ser281fs frameshift NM_001407613.1:c.840_843del NP_001394542.1:p.Ser281fs frameshift NM_001407614.1:c.840_843del NP_001394543.1:p.Ser281fs frameshift NM_001407615.1:c.840_843del NP_001394544.1:p.Ser281fs frameshift NM_001407616.1:c.843_846del NP_001394545.1:p.Ser282fs frameshift NM_001407617.1:c.843_846del NP_001394546.1:p.Ser282fs frameshift NM_001407618.1:c.843_846del NP_001394547.1:p.Ser282fs frameshift NM_001407619.1:c.843_846del NP_001394548.1:p.Ser282fs frameshift NM_001407620.1:c.843_846del NP_001394549.1:p.Ser282fs frameshift NM_001407621.1:c.843_846del NP_001394550.1:p.Ser282fs frameshift NM_001407622.1:c.843_846del NP_001394551.1:p.Ser282fs frameshift NM_001407623.1:c.843_846del NP_001394552.1:p.Ser282fs frameshift NM_001407624.1:c.843_846del NP_001394553.1:p.Ser282fs frameshift NM_001407625.1:c.843_846del NP_001394554.1:p.Ser282fs frameshift NM_001407626.1:c.843_846del NP_001394555.1:p.Ser282fs frameshift NM_001407627.1:c.840_843del NP_001394556.1:p.Ser281fs frameshift NM_001407628.1:c.840_843del NP_001394557.1:p.Ser281fs frameshift NM_001407629.1:c.840_843del NP_001394558.1:p.Ser281fs frameshift NM_001407630.1:c.840_843del NP_001394559.1:p.Ser281fs frameshift NM_001407631.1:c.840_843del NP_001394560.1:p.Ser281fs frameshift NM_001407632.1:c.840_843del NP_001394561.1:p.Ser281fs frameshift NM_001407633.1:c.840_843del NP_001394562.1:p.Ser281fs frameshift NM_001407634.1:c.840_843del NP_001394563.1:p.Ser281fs frameshift NM_001407635.1:c.840_843del NP_001394564.1:p.Ser281fs frameshift NM_001407636.1:c.840_843del NP_001394565.1:p.Ser281fs frameshift NM_001407637.1:c.840_843del NP_001394566.1:p.Ser281fs frameshift NM_001407638.1:c.840_843del NP_001394567.1:p.Ser281fs frameshift NM_001407639.1:c.843_846del NP_001394568.1:p.Ser282fs frameshift NM_001407640.1:c.843_846del NP_001394569.1:p.Ser282fs frameshift NM_001407641.1:c.843_846del NP_001394570.1:p.Ser282fs frameshift NM_001407642.1:c.843_846del NP_001394571.1:p.Ser282fs frameshift NM_001407644.1:c.840_843del NP_001394573.1:p.Ser281fs frameshift NM_001407645.1:c.840_843del NP_001394574.1:p.Ser281fs frameshift NM_001407646.1:c.834_837del NP_001394575.1:p.Ser279fs frameshift NM_001407647.1:c.834_837del NP_001394576.1:p.Ser279fs frameshift NM_001407648.1:c.720_723del NP_001394577.1:p.Ser241fs frameshift NM_001407649.1:c.717_720del NP_001394578.1:p.Ser240fs frameshift NM_001407652.1:c.843_846del NP_001394581.1:p.Ser282fs frameshift NM_001407653.1:c.765_768del NP_001394582.1:p.Ser256fs frameshift NM_001407654.1:c.765_768del NP_001394583.1:p.Ser256fs frameshift NM_001407655.1:c.765_768del NP_001394584.1:p.Ser256fs frameshift NM_001407656.1:c.765_768del NP_001394585.1:p.Ser256fs frameshift NM_001407657.1:c.765_768del NP_001394586.1:p.Ser256fs frameshift NM_001407658.1:c.765_768del NP_001394587.1:p.Ser256fs frameshift NM_001407659.1:c.762_765del NP_001394588.1:p.Ser255fs frameshift NM_001407660.1:c.762_765del NP_001394589.1:p.Ser255fs frameshift NM_001407661.1:c.762_765del NP_001394590.1:p.Ser255fs frameshift NM_001407662.1:c.762_765del NP_001394591.1:p.Ser255fs frameshift NM_001407663.1:c.765_768del NP_001394592.1:p.Ser256fs frameshift NM_001407664.1:c.720_723del NP_001394593.1:p.Ser241fs frameshift NM_001407665.1:c.720_723del NP_001394594.1:p.Ser241fs frameshift NM_001407666.1:c.720_723del NP_001394595.1:p.Ser241fs frameshift NM_001407667.1:c.720_723del NP_001394596.1:p.Ser241fs frameshift NM_001407668.1:c.720_723del NP_001394597.1:p.Ser241fs frameshift NM_001407669.1:c.720_723del NP_001394598.1:p.Ser241fs frameshift NM_001407670.1:c.717_720del NP_001394599.1:p.Ser240fs frameshift NM_001407671.1:c.717_720del NP_001394600.1:p.Ser240fs frameshift NM_001407672.1:c.717_720del NP_001394601.1:p.Ser240fs frameshift NM_001407673.1:c.717_720del NP_001394602.1:p.Ser240fs frameshift NM_001407674.1:c.720_723del NP_001394603.1:p.Ser241fs frameshift NM_001407675.1:c.720_723del NP_001394604.1:p.Ser241fs frameshift NM_001407676.1:c.720_723del NP_001394605.1:p.Ser241fs frameshift NM_001407677.1:c.720_723del NP_001394606.1:p.Ser241fs frameshift NM_001407678.1:c.720_723del NP_001394607.1:p.Ser241fs frameshift NM_001407679.1:c.720_723del NP_001394608.1:p.Ser241fs frameshift NM_001407680.1:c.720_723del NP_001394609.1:p.Ser241fs frameshift NM_001407681.1:c.720_723del NP_001394610.1:p.Ser241fs frameshift NM_001407682.1:c.720_723del NP_001394611.1:p.Ser241fs frameshift NM_001407683.1:c.720_723del NP_001394612.1:p.Ser241fs frameshift NM_001407684.1:c.843_846del NP_001394613.1:p.Ser282fs frameshift NM_001407685.1:c.717_720del NP_001394614.1:p.Ser240fs frameshift NM_001407686.1:c.717_720del NP_001394615.1:p.Ser240fs frameshift NM_001407687.1:c.717_720del NP_001394616.1:p.Ser240fs frameshift NM_001407688.1:c.717_720del NP_001394617.1:p.Ser240fs frameshift NM_001407689.1:c.717_720del NP_001394618.1:p.Ser240fs frameshift NM_001407690.1:c.717_720del NP_001394619.1:p.Ser240fs frameshift NM_001407691.1:c.717_720del NP_001394620.1:p.Ser240fs frameshift NM_001407692.1:c.702_705del NP_001394621.1:p.Ser235fs frameshift NM_001407694.1:c.702_705del NP_001394623.1:p.Ser235fs frameshift NM_001407695.1:c.702_705del NP_001394624.1:p.Ser235fs frameshift NM_001407696.1:c.702_705del NP_001394625.1:p.Ser235fs frameshift NM_001407697.1:c.702_705del NP_001394626.1:p.Ser235fs frameshift NM_001407698.1:c.702_705del NP_001394627.1:p.Ser235fs frameshift NM_001407724.1:c.702_705del NP_001394653.1:p.Ser235fs frameshift NM_001407725.1:c.702_705del NP_001394654.1:p.Ser235fs frameshift NM_001407726.1:c.702_705del NP_001394655.1:p.Ser235fs frameshift NM_001407727.1:c.702_705del NP_001394656.1:p.Ser235fs frameshift NM_001407728.1:c.702_705del NP_001394657.1:p.Ser235fs frameshift NM_001407729.1:c.702_705del NP_001394658.1:p.Ser235fs frameshift NM_001407730.1:c.702_705del NP_001394659.1:p.Ser235fs frameshift NM_001407731.1:c.702_705del NP_001394660.1:p.Ser235fs frameshift NM_001407732.1:c.702_705del NP_001394661.1:p.Ser235fs frameshift NM_001407733.1:c.702_705del NP_001394662.1:p.Ser235fs frameshift NM_001407734.1:c.702_705del NP_001394663.1:p.Ser235fs frameshift NM_001407735.1:c.702_705del NP_001394664.1:p.Ser235fs frameshift NM_001407736.1:c.702_705del NP_001394665.1:p.Ser235fs frameshift NM_001407737.1:c.702_705del NP_001394666.1:p.Ser235fs frameshift NM_001407738.1:c.702_705del NP_001394667.1:p.Ser235fs frameshift NM_001407739.1:c.702_705del NP_001394668.1:p.Ser235fs frameshift NM_001407740.1:c.699_702del NP_001394669.1:p.Ser234fs frameshift NM_001407741.1:c.699_702del NP_001394670.1:p.Ser234fs frameshift NM_001407742.1:c.699_702del NP_001394671.1:p.Ser234fs frameshift NM_001407743.1:c.699_702del NP_001394672.1:p.Ser234fs frameshift NM_001407744.1:c.699_702del NP_001394673.1:p.Ser234fs frameshift NM_001407745.1:c.699_702del NP_001394674.1:p.Ser234fs frameshift NM_001407746.1:c.699_702del NP_001394675.1:p.Ser234fs frameshift NM_001407747.1:c.699_702del NP_001394676.1:p.Ser234fs frameshift NM_001407748.1:c.699_702del NP_001394677.1:p.Ser234fs frameshift NM_001407749.1:c.699_702del NP_001394678.1:p.Ser234fs frameshift NM_001407750.1:c.702_705del NP_001394679.1:p.Ser235fs frameshift NM_001407751.1:c.702_705del NP_001394680.1:p.Ser235fs frameshift NM_001407752.1:c.702_705del NP_001394681.1:p.Ser235fs frameshift NM_001407838.1:c.699_702del NP_001394767.1:p.Ser234fs frameshift NM_001407839.1:c.699_702del NP_001394768.1:p.Ser234fs frameshift NM_001407841.1:c.699_702del NP_001394770.1:p.Ser234fs frameshift NM_001407842.1:c.699_702del NP_001394771.1:p.Ser234fs frameshift NM_001407843.1:c.699_702del NP_001394772.1:p.Ser234fs frameshift NM_001407844.1:c.699_702del NP_001394773.1:p.Ser234fs frameshift NM_001407845.1:c.699_702del NP_001394774.1:p.Ser234fs frameshift NM_001407846.1:c.699_702del NP_001394775.1:p.Ser234fs frameshift NM_001407847.1:c.699_702del NP_001394776.1:p.Ser234fs frameshift NM_001407848.1:c.699_702del NP_001394777.1:p.Ser234fs frameshift NM_001407849.1:c.699_702del NP_001394778.1:p.Ser234fs frameshift NM_001407850.1:c.702_705del NP_001394779.1:p.Ser235fs frameshift NM_001407851.1:c.702_705del NP_001394780.1:p.Ser235fs frameshift NM_001407852.1:c.702_705del NP_001394781.1:p.Ser235fs frameshift NM_001407853.1:c.630_633del NP_001394782.1:p.Ser211fs frameshift NM_001407854.1:c.843_846del NP_001394783.1:p.Ser282fs frameshift NM_001407858.1:c.843_846del NP_001394787.1:p.Ser282fs frameshift NM_001407859.1:c.843_846del NP_001394788.1:p.Ser282fs frameshift NM_001407860.1:c.840_843del NP_001394789.1:p.Ser281fs frameshift NM_001407861.1:c.840_843del NP_001394790.1:p.Ser281fs frameshift NM_001407862.1:c.642_645del NP_001394791.1:p.Ser215fs frameshift NM_001407863.1:c.720_723del NP_001394792.1:p.Ser241fs frameshift NM_001407874.1:c.639_642del NP_001394803.1:p.Ser214fs frameshift NM_001407875.1:c.639_642del NP_001394804.1:p.Ser214fs frameshift NM_001407879.1:c.633_636del NP_001394808.1:p.Ser212fs frameshift NM_001407881.1:c.633_636del NP_001394810.1:p.Ser212fs frameshift NM_001407882.1:c.633_636del NP_001394811.1:p.Ser212fs frameshift NM_001407884.1:c.633_636del NP_001394813.1:p.Ser212fs frameshift NM_001407885.1:c.633_636del NP_001394814.1:p.Ser212fs frameshift NM_001407886.1:c.633_636del NP_001394815.1:p.Ser212fs frameshift NM_001407887.1:c.633_636del NP_001394816.1:p.Ser212fs frameshift NM_001407889.1:c.633_636del NP_001394818.1:p.Ser212fs frameshift NM_001407894.1:c.630_633del NP_001394823.1:p.Ser211fs frameshift NM_001407895.1:c.630_633del NP_001394824.1:p.Ser211fs frameshift NM_001407896.1:c.630_633del NP_001394825.1:p.Ser211fs frameshift NM_001407897.1:c.630_633del NP_001394826.1:p.Ser211fs frameshift NM_001407898.1:c.630_633del NP_001394827.1:p.Ser211fs frameshift NM_001407899.1:c.630_633del NP_001394828.1:p.Ser211fs frameshift NM_001407900.1:c.633_636del NP_001394829.1:p.Ser212fs frameshift NM_001407902.1:c.633_636del NP_001394831.1:p.Ser212fs frameshift NM_001407904.1:c.633_636del NP_001394833.1:p.Ser212fs frameshift NM_001407906.1:c.633_636del NP_001394835.1:p.Ser212fs frameshift NM_001407907.1:c.633_636del NP_001394836.1:p.Ser212fs frameshift NM_001407908.1:c.633_636del NP_001394837.1:p.Ser212fs frameshift NM_001407909.1:c.633_636del NP_001394838.1:p.Ser212fs frameshift NM_001407910.1:c.633_636del NP_001394839.1:p.Ser212fs frameshift NM_001407915.1:c.630_633del NP_001394844.1:p.Ser211fs frameshift NM_001407916.1:c.630_633del NP_001394845.1:p.Ser211fs frameshift NM_001407917.1:c.630_633del NP_001394846.1:p.Ser211fs frameshift NM_001407918.1:c.630_633del NP_001394847.1:p.Ser211fs frameshift NM_001407919.1:c.720_723del NP_001394848.1:p.Ser241fs frameshift NM_001407920.1:c.579_582del NP_001394849.1:p.Ser194fs frameshift NM_001407921.1:c.579_582del NP_001394850.1:p.Ser194fs frameshift NM_001407922.1:c.579_582del NP_001394851.1:p.Ser194fs frameshift NM_001407923.1:c.579_582del NP_001394852.1:p.Ser194fs frameshift NM_001407924.1:c.579_582del NP_001394853.1:p.Ser194fs frameshift NM_001407925.1:c.579_582del NP_001394854.1:p.Ser194fs frameshift NM_001407926.1:c.579_582del NP_001394855.1:p.Ser194fs frameshift NM_001407927.1:c.579_582del NP_001394856.1:p.Ser194fs frameshift NM_001407928.1:c.579_582del NP_001394857.1:p.Ser194fs frameshift NM_001407929.1:c.579_582del NP_001394858.1:p.Ser194fs frameshift NM_001407930.1:c.576_579del NP_001394859.1:p.Ser193fs frameshift NM_001407931.1:c.576_579del NP_001394860.1:p.Ser193fs frameshift NM_001407932.1:c.576_579del NP_001394861.1:p.Ser193fs frameshift NM_001407933.1:c.579_582del NP_001394862.1:p.Ser194fs frameshift NM_001407934.1:c.576_579del NP_001394863.1:p.Ser193fs frameshift NM_001407935.1:c.579_582del NP_001394864.1:p.Ser194fs frameshift NM_001407936.1:c.576_579del NP_001394865.1:p.Ser193fs frameshift NM_001407937.1:c.720_723del NP_001394866.1:p.Ser241fs frameshift NM_001407938.1:c.720_723del NP_001394867.1:p.Ser241fs frameshift NM_001407939.1:c.720_723del NP_001394868.1:p.Ser241fs frameshift NM_001407940.1:c.717_720del NP_001394869.1:p.Ser240fs frameshift NM_001407941.1:c.717_720del NP_001394870.1:p.Ser240fs frameshift NM_001407942.1:c.702_705del NP_001394871.1:p.Ser235fs frameshift NM_001407943.1:c.699_702del NP_001394872.1:p.Ser234fs frameshift NM_001407944.1:c.702_705del NP_001394873.1:p.Ser235fs frameshift NM_001407945.1:c.702_705del NP_001394874.1:p.Ser235fs frameshift NM_001407946.1:c.510_513del NP_001394875.1:p.Ser171fs frameshift NM_001407947.1:c.510_513del NP_001394876.1:p.Ser171fs frameshift NM_001407948.1:c.510_513del NP_001394877.1:p.Ser171fs frameshift NM_001407949.1:c.510_513del NP_001394878.1:p.Ser171fs frameshift NM_001407950.1:c.510_513del NP_001394879.1:p.Ser171fs frameshift NM_001407951.1:c.510_513del NP_001394880.1:p.Ser171fs frameshift NM_001407952.1:c.510_513del NP_001394881.1:p.Ser171fs frameshift NM_001407953.1:c.510_513del NP_001394882.1:p.Ser171fs frameshift NM_001407954.1:c.507_510del NP_001394883.1:p.Ser170fs frameshift NM_001407955.1:c.507_510del NP_001394884.1:p.Ser170fs frameshift NM_001407956.1:c.507_510del NP_001394885.1:p.Ser170fs frameshift NM_001407957.1:c.510_513del NP_001394886.1:p.Ser171fs frameshift NM_001407958.1:c.507_510del NP_001394887.1:p.Ser170fs frameshift NM_001407959.1:c.462_465del NP_001394888.1:p.Ser155fs frameshift NM_001407960.1:c.462_465del NP_001394889.1:p.Ser155fs frameshift NM_001407962.1:c.459_462del NP_001394891.1:p.Ser154fs frameshift NM_001407963.1:c.462_465del NP_001394892.1:p.Ser155fs frameshift NM_001407964.1:c.699_702del NP_001394893.1:p.Ser234fs frameshift NM_001407965.1:c.339_342del NP_001394894.1:p.Ser114fs frameshift NM_001407966.1:c.-46_-43del 5 prime UTR NM_001407967.1:c.-46_-43del 5 prime UTR NM_001407968.1:c.787+56_787+59del intron variant NM_001407969.1:c.787+56_787+59del intron variant NM_001407970.1:c.787+56_787+59del intron variant NM_001407971.1:c.787+56_787+59del intron variant NM_001407972.1:c.784+56_784+59del intron variant NM_001407973.1:c.787+56_787+59del intron variant NM_001407974.1:c.787+56_787+59del intron variant NM_001407975.1:c.787+56_787+59del intron variant NM_001407976.1:c.787+56_787+59del intron variant NM_001407977.1:c.787+56_787+59del intron variant NM_001407978.1:c.787+56_787+59del intron variant NM_001407979.1:c.787+56_787+59del intron variant NM_001407980.1:c.787+56_787+59del intron variant NM_001407981.1:c.787+56_787+59del intron variant NM_001407982.1:c.787+56_787+59del intron variant NM_001407983.1:c.787+56_787+59del intron variant NM_001407984.1:c.784+56_784+59del intron variant NM_001407985.1:c.784+56_784+59del intron variant NM_001407986.1:c.784+56_784+59del intron variant NM_001407990.1:c.787+56_787+59del intron variant NM_001407991.1:c.784+56_784+59del intron variant NM_001407992.1:c.784+56_784+59del intron variant NM_001407993.1:c.787+56_787+59del intron variant NM_001408392.1:c.784+56_784+59del intron variant NM_001408396.1:c.784+56_784+59del intron variant NM_001408397.1:c.784+56_784+59del intron variant NM_001408398.1:c.784+56_784+59del intron variant NM_001408399.1:c.784+56_784+59del intron variant NM_001408400.1:c.784+56_784+59del intron variant NM_001408401.1:c.784+56_784+59del intron variant NM_001408402.1:c.784+56_784+59del intron variant NM_001408403.1:c.787+56_787+59del intron variant NM_001408404.1:c.787+56_787+59del intron variant NM_001408406.1:c.790+53_790+56del intron variant NM_001408407.1:c.784+56_784+59del intron variant NM_001408408.1:c.778+56_778+59del intron variant NM_001408409.1:c.709+56_709+59del intron variant NM_001408410.1:c.646+56_646+59del intron variant NM_001408411.1:c.709+56_709+59del intron variant NM_001408412.1:c.709+56_709+59del intron variant NM_001408413.1:c.706+56_706+59del intron variant NM_001408414.1:c.709+56_709+59del intron variant NM_001408415.1:c.709+56_709+59del intron variant NM_001408416.1:c.706+56_706+59del intron variant NM_001408418.1:c.670+1158_670+1161del intron variant NM_001408419.1:c.670+1158_670+1161del intron variant NM_001408420.1:c.670+1158_670+1161del intron variant NM_001408421.1:c.667+1158_667+1161del intron variant NM_001408422.1:c.670+1158_670+1161del intron variant NM_001408423.1:c.670+1158_670+1161del intron variant NM_001408424.1:c.667+1158_667+1161del intron variant NM_001408425.1:c.664+56_664+59del intron variant NM_001408426.1:c.664+56_664+59del intron variant NM_001408427.1:c.664+56_664+59del intron variant NM_001408428.1:c.664+56_664+59del intron variant NM_001408429.1:c.664+56_664+59del intron variant NM_001408430.1:c.664+56_664+59del intron variant NM_001408431.1:c.667+1158_667+1161del intron variant NM_001408432.1:c.661+56_661+59del intron variant NM_001408433.1:c.661+56_661+59del intron variant NM_001408434.1:c.661+56_661+59del intron variant NM_001408435.1:c.661+56_661+59del intron variant NM_001408436.1:c.664+56_664+59del intron variant NM_001408437.1:c.664+56_664+59del intron variant NM_001408438.1:c.664+56_664+59del intron variant NM_001408439.1:c.664+56_664+59del intron variant NM_001408440.1:c.664+56_664+59del intron variant NM_001408441.1:c.664+56_664+59del intron variant NM_001408442.1:c.664+56_664+59del intron variant NM_001408443.1:c.664+56_664+59del intron variant NM_001408444.1:c.664+56_664+59del intron variant NM_001408445.1:c.661+56_661+59del intron variant NM_001408446.1:c.661+56_661+59del intron variant NM_001408447.1:c.661+56_661+59del intron variant NM_001408448.1:c.661+56_661+59del intron variant NM_001408450.1:c.661+56_661+59del intron variant NM_001408451.1:c.652+56_652+59del intron variant NM_001408452.1:c.646+56_646+59del intron variant NM_001408453.1:c.646+56_646+59del intron variant NM_001408454.1:c.646+56_646+59del intron variant NM_001408455.1:c.646+56_646+59del intron variant NM_001408456.1:c.646+56_646+59del intron variant NM_001408457.1:c.646+56_646+59del intron variant NM_001408458.1:c.646+56_646+59del intron variant NM_001408459.1:c.646+56_646+59del intron variant NM_001408460.1:c.646+56_646+59del intron variant NM_001408461.1:c.646+56_646+59del intron variant NM_001408462.1:c.643+56_643+59del intron variant NM_001408463.1:c.643+56_643+59del intron variant NM_001408464.1:c.643+56_643+59del intron variant NM_001408465.1:c.643+56_643+59del intron variant NM_001408466.1:c.646+56_646+59del intron variant NM_001408467.1:c.646+56_646+59del intron variant NM_001408468.1:c.643+56_643+59del intron variant NM_001408469.1:c.646+56_646+59del intron variant NM_001408470.1:c.643+56_643+59del intron variant NM_001408472.1:c.787+56_787+59del intron variant NM_001408473.1:c.784+56_784+59del intron variant NM_001408474.1:c.586+56_586+59del intron variant NM_001408475.1:c.583+56_583+59del intron variant NM_001408476.1:c.586+56_586+59del intron variant NM_001408478.1:c.577+56_577+59del intron variant NM_001408479.1:c.577+56_577+59del intron variant NM_001408480.1:c.577+56_577+59del intron variant NM_001408481.1:c.577+56_577+59del intron variant NM_001408482.1:c.577+56_577+59del intron variant NM_001408483.1:c.577+56_577+59del intron variant NM_001408484.1:c.577+56_577+59del intron variant NM_001408485.1:c.577+56_577+59del intron variant NM_001408489.1:c.577+56_577+59del intron variant NM_001408490.1:c.574+56_574+59del intron variant NM_001408491.1:c.574+56_574+59del intron variant NM_001408492.1:c.577+56_577+59del intron variant NM_001408493.1:c.574+56_574+59del intron variant NM_001408494.1:c.548-3656_548-3653del intron variant NM_001408495.1:c.545-3656_545-3653del intron variant NM_001408496.1:c.523+56_523+59del intron variant NM_001408497.1:c.523+56_523+59del intron variant NM_001408498.1:c.523+56_523+59del intron variant NM_001408499.1:c.523+56_523+59del intron variant NM_001408500.1:c.523+56_523+59del intron variant NM_001408501.1:c.523+56_523+59del intron variant NM_001408502.1:c.454+56_454+59del intron variant NM_001408503.1:c.520+56_520+59del intron variant NM_001408504.1:c.520+56_520+59del intron variant NM_001408505.1:c.520+56_520+59del intron variant NM_001408506.1:c.460+1158_460+1161del intron variant NM_001408507.1:c.460+1158_460+1161del intron variant NM_001408508.1:c.451+56_451+59del intron variant NM_001408509.1:c.451+56_451+59del intron variant NM_001408510.1:c.406+56_406+59del intron variant NM_001408511.1:c.404-3656_404-3653del intron variant NM_001408512.1:c.283+56_283+59del intron variant NM_001408513.1:c.577+56_577+59del intron variant NM_001408514.1:c.577+56_577+59del intron variant NM_007297.4:c.702_705del NP_009228.2:p.Ser235fs frameshift NM_007298.4:c.787+56_787+59del intron variant NM_007299.4:c.787+56_787+59del intron variant NM_007300.4:c.843_846del NP_009231.2:p.Ser282fs frameshift NR_027676.1:n.979_982delCTCA NC_000017.11:g.43094685_43094688del NC_000017.10:g.41246702_41246705del NG_005905.2:g.123296_123299del LRG_292:g.123296_123299del LRG_292t1:c.843_846del LRG_292p1:p.Ser282Tyrfs U14680.1:n.962_965delCTCA - Protein change
- S282fs, S235fs, S114fs, S155fs, S171fs, S215fs, S234fs, S279fs, S170fs, S194fs, S212fs, S256fs, S281fs, S154fs, S193fs, S211fs, S214fs, S240fs, S241fs, S255fs
- Other names
- 962del4
- Canonical SPDI
- NC_000017.11:43094684:TGAG:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 | ||
---|---|---|---|---|---|---|
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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13013 | 14815 |
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. |
---|---|---|---|---|
Pathogenic (14) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000019253.30 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 20, 2022 | RCV000131872.18 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Sep 9, 2023 | RCV000049168.27 | |
Pathogenic (2) |
no assertion criteria provided
|
Jun 11, 2019 | RCV000735511.10 | |
Pathogenic (10) |
criteria provided, multiple submitters, no conflicts
|
Jul 31, 2024 | RCV000412670.22 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jul 27, 2021 | RCV002496415.8 | |
Pathogenic (1) |
criteria provided, single submitter
|
Mar 13, 2024 | RCV003992160.1 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299490.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447448.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Non-Mendelian inheritance (present)
Sex: female
|
|
Pathogenic
(Jan 05, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210005.6
First in ClinVar: Feb 24, 2015 Last updated: Jan 07, 2017 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Reported in numerous individuals with personal and/or family histories of breast and/or ovarian cancer (Wagner 1998, Janezic 1999, Stegel 2011, Zhang 2011, Pern 2012, Song 2014, Muendlein 2015); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); Also known as 962del4 and 962_965delCTCA; This variant is associated with the following publications: (PMID: 10196379, 9663595, 21324516, 23110154, 22366370, 21232165, 23397983, 23635950, 24797986, 24728189, 27221827, 25971625, 27533253, 26306726, 25066507, 18489799, 11179017, 27062684, 29339979, 28324225, 31159747, 32341426, 26681312) (less)
|
|
Pathogenic
(Jan 15, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683371.3
First in ClinVar: Feb 19, 2018 Last updated: Jan 15, 2022 |
Comment:
This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
Pathogenic
(Dec 28, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002580575.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PVS1, PS4_MOD, PM2_SUP
|
Number of individuals with the variant: 1
Sex: female
|
|
Pathogenic
(Jul 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215063.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
Pathogenic
(Jun 19, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848361.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Ser282TyrfsX15 variant in BRCA1 has been reported in 23 individuals with BRCA1-related cancers (first published by Wagner 1998 PMID: 9663595). It was absent from … (more)
The p.Ser282TyrfsX15 variant in BRCA1 has been reported in 23 individuals with BRCA1-related cancers (first published by Wagner 1998 PMID: 9663595). It was absent from large population studies. This variant was classified as pathogenic on 09/08/16 by the ClinGen-approved ENIGMA expert panel (Variation ID 17683). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 282 and leads to a premature termination codon 15 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant hereditary breast and/or ovarian cancer (HBOC). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PS4, PM2. (less)
|
|
Pathogenic
(Jun 28, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000564365.1
First in ClinVar: Apr 22, 2017 Last updated: Apr 22, 2017 |
Number of individuals with the variant: 3
|
|
Pathogenic
(Jan 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: no
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000296764.4
First in ClinVar: Jul 31, 2016 Last updated: Apr 22, 2020 |
Comment:
This sequence change deletes 4 nucleotide from exon 11 of the BRCA1 mRNA (c.843_846delCTCA), causing a frameshift after codon 282 and the creation of a … (more)
This sequence change deletes 4 nucleotide from exon 11 of the BRCA1 mRNA (c.843_846delCTCA), causing a frameshift after codon 282 and the creation of a premature translation stop signal 15 amino acid residues later- p.(Ser282Tyrfs). This is expected to result in an absent or disrupted protein product.Truncating variants in BRCA1 are known to be pathogenic. This variant has been described in the international literature in individuals undergoing panel testing for hereditary syndrome (PMID: 31159747).This mutation has been described in the mutation database ClinVar (Variation ID: 17683). (less)
|
|
Pathogenic
(Apr 02, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499627.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
|
|
Pathogenic
(Apr 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699318.2
First in ClinVar: Dec 26, 2017 Last updated: May 23, 2021 |
Comment:
Variant summary: BRCA1 c.843_846delCTCA (p.Ser282TyrfsX15) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.843_846delCTCA (p.Ser282TyrfsX15) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 254112 control chromosomes (gnomAD and publication data). c.843_846delCTCA has been reported in the literature in multiple individuals affected with breast cancer and/or ovarian cancer (Wagner_1998, Janezic_1999, Judkins_2005, Song_2014, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Twelve ClinVar submitters, including one expert panel (ENIGMA), (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Mar 25, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600442.2
First in ClinVar: Jan 07, 2017 Last updated: Jan 03, 2022 |
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326442.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Jul 27, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002810445.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Pathogenic
(Dec 09, 2022)
|
criteria provided, single submitter
Method: research
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV002762794.2
First in ClinVar: Dec 17, 2022 Last updated: Feb 25, 2023 |
Comment:
PVS1, PS4_STR, PM2_SUP
|
|
Pathogenic
(Nov 03, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: not provided
Allele origin:
germline
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009405.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
|
|
Pathogenic
(Jul 03, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
inherited
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV003921010.2
First in ClinVar: May 06, 2023 Last updated: Aug 23, 2023 |
Comment:
Criteria applied: PVS1,PS4,PM2_SUP
Clinical Features:
Family history of cancer (present)
Sex: female
|
|
Pathogenic
(Sep 09, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000077181.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17683). This variant is also known … (more)
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17683). This variant is also known as 962del4. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 9663595, 10196379, 17319787, 21203900, 21324156, 23110154). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser282Tyrfs*15) 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). (less)
|
|
Pathogenic
(Mar 13, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV004812085.1
First in ClinVar: Apr 15, 2024 Last updated: Apr 15, 2024 |
Comment:
Criteria applied: PVS1,PM5_STR,PM2_SUP
Clinical Features:
Breast carcinoma (present) , Ovarian carcinoma (present)
Sex: female
|
|
Pathogenic
(Jan 20, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186927.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.843_846delCTCA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of four nucleotides at positions 843 to 846, … (more)
The c.843_846delCTCA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of four nucleotides at positions 843 to 846, causing a translational frameshift with a predicted alternate stop codon (p.S282Yfs*15). This mutation has been reported in multiple individuals with hereditary breast and/or ovarian cancer (Janezic SA et al. Hum. Mol. Genet. 1999;8:889-97; Zhang S et al. Gynecol. Oncol. 2011 May;121:353-7; Wagner TM et al. Int. J. Cancer. 1998 July;77:354-60; Tihomirova L et al. Adv Med Sci. 2014 Mar;59:114-9; Pern F et al. PLoS ONE. 2012 Oct;7:e47993; Stegel V et al. BMC Med. Genet. 2011 Jan;12:9; Dobricic J et al. J. Hum. Genet. 2013 Aug;58:501-7; Meisel C et al. Arch. Gynecol. Obstet. 2017 May;295:1227-1238). Of note, this mutation is also designated as 962del4 in published literature. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
|
Pathogenic
(May 27, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Accession: SCV005045949.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
PVS1; PM2_supporting; PM5_PTC_Strong
|
|
Pathogenic
(Jul 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005090362.1
First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024 |
|
|
Pathogenic
(May 27, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005198295.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
|
|
Pathogenic
(May 01, 1999)
|
no assertion criteria provided
Method: literature only
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039541.1
First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013 |
Comment on evidence:
In a Caucasian patient with a positive family history of breast or ovarian cancer (604370) in a first-degree relative, Janezic et al. (1999) identified a … (more)
In a Caucasian patient with a positive family history of breast or ovarian cancer (604370) in a first-degree relative, Janezic et al. (1999) identified a 962delCTCA mutation in the BRCA1 gene. (less)
|
|
Pathogenic
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145702.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 7
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Italy
Observation 3:
Number of individuals with the variant: 2
Geographic origin: Western European
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Ashkenazi
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Austrian
Observation 6:
Number of individuals with the variant: 1
Ethnicity/Population group: Austrian
Geographic origin: Austria
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Observation 8:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 11:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
|
Pathogenic
(May 28, 2013)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000109435.3
First in ClinVar: Dec 23, 2013 Last updated: Oct 11, 2015 |
|
|
Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587080.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733664.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591305.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The p.Ser282TyrfsX15 variant has been reported in 25 of 3463 probands with breast or ovarian cancer (Anton-Culver_2000_10882857, Capalbo_2006_16760289, Wagner_1998_9663595, Zhang_2011_21324516, Machackova_2008_18489799, Janezic_1999_10196379, http://research.nhgri.nih.gov/bic/). In addition, … (more)
The p.Ser282TyrfsX15 variant has been reported in 25 of 3463 probands with breast or ovarian cancer (Anton-Culver_2000_10882857, Capalbo_2006_16760289, Wagner_1998_9663595, Zhang_2011_21324516, Machackova_2008_18489799, Janezic_1999_10196379, http://research.nhgri.nih.gov/bic/). In addition, The p.Ser282TyrfsX15 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 282 and leads to a premature stop codon 15 codons downstream. This alteration is then predicted to lead to a truncated or absent protein and loss of function. Loss of function variants are an established mechanism of disease for the BRCA1 gene, which makes it highly likely that the p.Ser282TyrfsX15 variant is pathogenic. (less)
|
|
Pathogenic
(Aug 01, 2000)
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863649.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
|
|
Pathogenic
(Jun 11, 2019)
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: yes
Allele origin:
germline
|
CZECANCA consortium
Accession: SCV001451789.1
First in ClinVar: Dec 24, 2020 Last updated: Dec 24, 2020 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905698.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001965266.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
|
Pathogenic
(Mar 02, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
BRCAlab, Lund University
Accession: SCV004244143.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
|
click to load more click to collapse |
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
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. | Tsaousis GN | BMC cancer | 2019 | PMID: 31159747 |
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients. | Koczkowska M | Cancers | 2018 | PMID: 30441849 |
Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population. | Goidescu IG | Clujul medical (1957) | 2018 | PMID: 29785153 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
A Danish national effort of BRCA1/2 variant classification. | Pedersen IS | Acta oncologica (Stockholm, Sweden) | 2018 | PMID: 29168416 |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | Azzollini J | European journal of internal medicine | 2016 | PMID: 27062684 |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | Susswein LR | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26681312 |
BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia. | Tihomirova L | Advances in medical sciences | 2014 | PMID: 24797986 |
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | Song H | Human molecular genetics | 2014 | PMID: 24728189 |
Serbian high-risk families: extensive results on BRCA mutation spectra and frequency. | Dobričić J | Journal of human genetics | 2013 | PMID: 23635950 |
Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer. | Pern F | PloS one | 2012 | PMID: 23110154 |
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. | Zhang S | Gynecologic oncology | 2011 | PMID: 21324516 |
Social and cultural factors underlying generational differences in overweight: a cross-sectional study among ethnic minorities in the Netherlands. | Hosper K | BMC public health | 2011 | PMID: 21324156 |
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. | Stegel V | BMC medical genetics | 2011 | PMID: 21232165 |
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. | Konecny M | Breast cancer research and treatment | 2011 | PMID: 21203900 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. | Machackova E | BMC cancer | 2008 | PMID: 18489799 |
The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families. | Konecny M | Neoplasma | 2007 | PMID: 17319787 |
BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. | Capalbo C | Annals of oncology : official journal of the European Society for Medical Oncology | 2006 | PMID: 16760289 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer. | Anton-Culver H | European journal of cancer (Oxford, England : 1990) | 2000 | PMID: 10882857 |
Germline BRCA1 alterations in a population-based series of ovarian cancer cases. | Janezic SA | Human molecular genetics | 1999 | PMID: 10196379 |
BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. | Wagner TM | International journal of cancer | 1998 | PMID: 9663595 |
Wagner et al. Int. J. Cancer, in press | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs80357919 ...
HelpRecord last updated Aug 25, 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.