ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
Variation ID: 54162 Accession: VCV000054162.23
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43094327 (GRCh38) [ NCBI UCSC ] 17: 41246344 (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 May 1, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.1204del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu402fs frameshift NM_001407571.1:c.991del NP_001394500.1:p.Glu331fs frameshift NM_001407581.1:c.1204del NP_001394510.1:p.Glu402fs frameshift NM_001407582.1:c.1204del NP_001394511.1:p.Glu402fs frameshift NM_001407583.1:c.1204del NP_001394512.1:p.Glu402fs frameshift NM_001407585.1:c.1204del NP_001394514.1:p.Glu402fs frameshift NM_001407587.1:c.1201del NP_001394516.1:p.Glu401fs frameshift NM_001407590.1:c.1201del NP_001394519.1:p.Glu401fs frameshift NM_001407591.1:c.1201del NP_001394520.1:p.Glu401fs frameshift NM_001407593.1:c.1204del NP_001394522.1:p.Glu402fs frameshift NM_001407594.1:c.1204del NP_001394523.1:p.Glu402fs frameshift NM_001407596.1:c.1204del NP_001394525.1:p.Glu402fs frameshift NM_001407597.1:c.1204del NP_001394526.1:p.Glu402fs frameshift NM_001407598.1:c.1204del NP_001394527.1:p.Glu402fs frameshift NM_001407602.1:c.1204del NP_001394531.1:p.Glu402fs frameshift NM_001407603.1:c.1204del NP_001394532.1:p.Glu402fs frameshift NM_001407605.1:c.1204del NP_001394534.1:p.Glu402fs frameshift NM_001407610.1:c.1201del NP_001394539.1:p.Glu401fs frameshift NM_001407611.1:c.1201del NP_001394540.1:p.Glu401fs frameshift NM_001407612.1:c.1201del NP_001394541.1:p.Glu401fs frameshift NM_001407613.1:c.1201del NP_001394542.1:p.Glu401fs frameshift NM_001407614.1:c.1201del NP_001394543.1:p.Glu401fs frameshift NM_001407615.1:c.1201del NP_001394544.1:p.Glu401fs frameshift NM_001407616.1:c.1204del NP_001394545.1:p.Glu402fs frameshift NM_001407617.1:c.1204del NP_001394546.1:p.Glu402fs frameshift NM_001407618.1:c.1204del NP_001394547.1:p.Glu402fs frameshift NM_001407619.1:c.1204del NP_001394548.1:p.Glu402fs frameshift NM_001407620.1:c.1204del NP_001394549.1:p.Glu402fs frameshift NM_001407621.1:c.1204del NP_001394550.1:p.Glu402fs frameshift NM_001407622.1:c.1204del NP_001394551.1:p.Glu402fs frameshift NM_001407623.1:c.1204del NP_001394552.1:p.Glu402fs frameshift NM_001407624.1:c.1204del NP_001394553.1:p.Glu402fs frameshift NM_001407625.1:c.1204del NP_001394554.1:p.Glu402fs frameshift NM_001407626.1:c.1204del NP_001394555.1:p.Glu402fs frameshift NM_001407627.1:c.1201del NP_001394556.1:p.Glu401fs frameshift NM_001407628.1:c.1201del NP_001394557.1:p.Glu401fs frameshift NM_001407629.1:c.1201del NP_001394558.1:p.Glu401fs frameshift NM_001407630.1:c.1201del NP_001394559.1:p.Glu401fs frameshift NM_001407631.1:c.1201del NP_001394560.1:p.Glu401fs frameshift NM_001407632.1:c.1201del NP_001394561.1:p.Glu401fs frameshift NM_001407633.1:c.1201del NP_001394562.1:p.Glu401fs frameshift NM_001407634.1:c.1201del NP_001394563.1:p.Glu401fs frameshift NM_001407635.1:c.1201del NP_001394564.1:p.Glu401fs frameshift NM_001407636.1:c.1201del NP_001394565.1:p.Glu401fs frameshift NM_001407637.1:c.1201del NP_001394566.1:p.Glu401fs frameshift NM_001407638.1:c.1201del NP_001394567.1:p.Glu401fs frameshift NM_001407639.1:c.1204del NP_001394568.1:p.Glu402fs frameshift NM_001407640.1:c.1204del NP_001394569.1:p.Glu402fs frameshift NM_001407641.1:c.1204del NP_001394570.1:p.Glu402fs frameshift NM_001407642.1:c.1204del NP_001394571.1:p.Glu402fs frameshift NM_001407644.1:c.1201del NP_001394573.1:p.Glu401fs frameshift NM_001407645.1:c.1201del NP_001394574.1:p.Glu401fs frameshift NM_001407646.1:c.1195del NP_001394575.1:p.Glu399fs frameshift NM_001407647.1:c.1195del NP_001394576.1:p.Glu399fs frameshift NM_001407648.1:c.1081del NP_001394577.1:p.Glu361fs frameshift NM_001407649.1:c.1078del NP_001394578.1:p.Glu360fs frameshift NM_001407652.1:c.1204del NP_001394581.1:p.Glu402fs frameshift NM_001407653.1:c.1126del NP_001394582.1:p.Glu376fs frameshift NM_001407654.1:c.1126del NP_001394583.1:p.Glu376fs frameshift NM_001407655.1:c.1126del NP_001394584.1:p.Glu376fs frameshift NM_001407656.1:c.1126del NP_001394585.1:p.Glu376fs frameshift NM_001407657.1:c.1126del NP_001394586.1:p.Glu376fs frameshift NM_001407658.1:c.1126del NP_001394587.1:p.Glu376fs frameshift NM_001407659.1:c.1123del NP_001394588.1:p.Glu375fs frameshift NM_001407660.1:c.1123del NP_001394589.1:p.Glu375fs frameshift NM_001407661.1:c.1123del NP_001394590.1:p.Glu375fs frameshift NM_001407662.1:c.1123del NP_001394591.1:p.Glu375fs frameshift NM_001407663.1:c.1126del NP_001394592.1:p.Glu376fs frameshift NM_001407664.1:c.1081del NP_001394593.1:p.Glu361fs frameshift NM_001407665.1:c.1081del NP_001394594.1:p.Glu361fs frameshift NM_001407666.1:c.1081del NP_001394595.1:p.Glu361fs frameshift NM_001407667.1:c.1081del NP_001394596.1:p.Glu361fs frameshift NM_001407668.1:c.1081del NP_001394597.1:p.Glu361fs frameshift NM_001407669.1:c.1081del NP_001394598.1:p.Glu361fs frameshift NM_001407670.1:c.1078del NP_001394599.1:p.Glu360fs frameshift NM_001407671.1:c.1078del NP_001394600.1:p.Glu360fs frameshift NM_001407672.1:c.1078del NP_001394601.1:p.Glu360fs frameshift NM_001407673.1:c.1078del NP_001394602.1:p.Glu360fs frameshift NM_001407674.1:c.1081del NP_001394603.1:p.Glu361fs frameshift NM_001407675.1:c.1081del NP_001394604.1:p.Glu361fs frameshift NM_001407676.1:c.1081del NP_001394605.1:p.Glu361fs frameshift NM_001407677.1:c.1081del NP_001394606.1:p.Glu361fs frameshift NM_001407678.1:c.1081del NP_001394607.1:p.Glu361fs frameshift NM_001407679.1:c.1081del NP_001394608.1:p.Glu361fs frameshift NM_001407680.1:c.1081del NP_001394609.1:p.Glu361fs frameshift NM_001407681.1:c.1081del NP_001394610.1:p.Glu361fs frameshift NM_001407682.1:c.1081del NP_001394611.1:p.Glu361fs frameshift NM_001407683.1:c.1081del NP_001394612.1:p.Glu361fs frameshift NM_001407684.1:c.1204del NP_001394613.1:p.Glu402fs frameshift NM_001407685.1:c.1078del NP_001394614.1:p.Glu360fs frameshift NM_001407686.1:c.1078del NP_001394615.1:p.Glu360fs frameshift NM_001407687.1:c.1078del NP_001394616.1:p.Glu360fs frameshift NM_001407688.1:c.1078del NP_001394617.1:p.Glu360fs frameshift NM_001407689.1:c.1078del NP_001394618.1:p.Glu360fs frameshift NM_001407690.1:c.1078del NP_001394619.1:p.Glu360fs frameshift NM_001407691.1:c.1078del NP_001394620.1:p.Glu360fs frameshift NM_001407692.1:c.1063del NP_001394621.1:p.Glu355fs frameshift NM_001407694.1:c.1063del NP_001394623.1:p.Glu355fs frameshift NM_001407695.1:c.1063del NP_001394624.1:p.Glu355fs frameshift NM_001407696.1:c.1063del NP_001394625.1:p.Glu355fs frameshift NM_001407697.1:c.1063del NP_001394626.1:p.Glu355fs frameshift NM_001407698.1:c.1063del NP_001394627.1:p.Glu355fs frameshift NM_001407724.1:c.1063del NP_001394653.1:p.Glu355fs frameshift NM_001407725.1:c.1063del NP_001394654.1:p.Glu355fs frameshift NM_001407726.1:c.1063del NP_001394655.1:p.Glu355fs frameshift NM_001407727.1:c.1063del NP_001394656.1:p.Glu355fs frameshift NM_001407728.1:c.1063del NP_001394657.1:p.Glu355fs frameshift NM_001407729.1:c.1063del NP_001394658.1:p.Glu355fs frameshift NM_001407730.1:c.1063del NP_001394659.1:p.Glu355fs frameshift NM_001407731.1:c.1063del NP_001394660.1:p.Glu355fs frameshift NM_001407732.1:c.1063del NP_001394661.1:p.Glu355fs frameshift NM_001407733.1:c.1063del NP_001394662.1:p.Glu355fs frameshift NM_001407734.1:c.1063del NP_001394663.1:p.Glu355fs frameshift NM_001407735.1:c.1063del NP_001394664.1:p.Glu355fs frameshift NM_001407736.1:c.1063del NP_001394665.1:p.Glu355fs frameshift NM_001407737.1:c.1063del NP_001394666.1:p.Glu355fs frameshift NM_001407738.1:c.1063del NP_001394667.1:p.Glu355fs frameshift NM_001407739.1:c.1063del NP_001394668.1:p.Glu355fs frameshift NM_001407740.1:c.1060del NP_001394669.1:p.Glu354fs frameshift NM_001407741.1:c.1060del NP_001394670.1:p.Glu354fs frameshift NM_001407742.1:c.1060del NP_001394671.1:p.Glu354fs frameshift NM_001407743.1:c.1060del NP_001394672.1:p.Glu354fs frameshift NM_001407744.1:c.1060del NP_001394673.1:p.Glu354fs frameshift NM_001407745.1:c.1060del NP_001394674.1:p.Glu354fs frameshift NM_001407746.1:c.1060del NP_001394675.1:p.Glu354fs frameshift NM_001407747.1:c.1060del NP_001394676.1:p.Glu354fs frameshift NM_001407748.1:c.1060del NP_001394677.1:p.Glu354fs frameshift NM_001407749.1:c.1060del NP_001394678.1:p.Glu354fs frameshift NM_001407750.1:c.1063del NP_001394679.1:p.Glu355fs frameshift NM_001407751.1:c.1063del NP_001394680.1:p.Glu355fs frameshift NM_001407752.1:c.1063del NP_001394681.1:p.Glu355fs frameshift NM_001407838.1:c.1060del NP_001394767.1:p.Glu354fs frameshift NM_001407839.1:c.1060del NP_001394768.1:p.Glu354fs frameshift NM_001407841.1:c.1060del NP_001394770.1:p.Glu354fs frameshift NM_001407842.1:c.1060del NP_001394771.1:p.Glu354fs frameshift NM_001407843.1:c.1060del NP_001394772.1:p.Glu354fs frameshift NM_001407844.1:c.1060del NP_001394773.1:p.Glu354fs frameshift NM_001407845.1:c.1060del NP_001394774.1:p.Glu354fs frameshift NM_001407846.1:c.1060del NP_001394775.1:p.Glu354fs frameshift NM_001407847.1:c.1060del NP_001394776.1:p.Glu354fs frameshift NM_001407848.1:c.1060del NP_001394777.1:p.Glu354fs frameshift NM_001407849.1:c.1060del NP_001394778.1:p.Glu354fs frameshift NM_001407850.1:c.1063del NP_001394779.1:p.Glu355fs frameshift NM_001407851.1:c.1063del NP_001394780.1:p.Glu355fs frameshift NM_001407852.1:c.1063del NP_001394781.1:p.Glu355fs frameshift NM_001407853.1:c.991del NP_001394782.1:p.Glu331fs frameshift NM_001407854.1:c.1204del NP_001394783.1:p.Glu402fs frameshift NM_001407858.1:c.1204del NP_001394787.1:p.Glu402fs frameshift NM_001407859.1:c.1204del NP_001394788.1:p.Glu402fs frameshift NM_001407860.1:c.1201del NP_001394789.1:p.Glu401fs frameshift NM_001407861.1:c.1201del NP_001394790.1:p.Glu401fs frameshift NM_001407862.1:c.1003del NP_001394791.1:p.Glu335fs frameshift NM_001407863.1:c.1081del NP_001394792.1:p.Glu361fs frameshift NM_001407874.1:c.1000del NP_001394803.1:p.Glu334fs frameshift NM_001407875.1:c.1000del NP_001394804.1:p.Glu334fs frameshift NM_001407879.1:c.994del NP_001394808.1:p.Glu332fs frameshift NM_001407881.1:c.994del NP_001394810.1:p.Glu332fs frameshift NM_001407882.1:c.994del NP_001394811.1:p.Glu332fs frameshift NM_001407884.1:c.994del NP_001394813.1:p.Glu332fs frameshift NM_001407885.1:c.994del NP_001394814.1:p.Glu332fs frameshift NM_001407886.1:c.994del NP_001394815.1:p.Glu332fs frameshift NM_001407887.1:c.994del NP_001394816.1:p.Glu332fs frameshift NM_001407889.1:c.994del NP_001394818.1:p.Glu332fs frameshift NM_001407894.1:c.991del NP_001394823.1:p.Glu331fs frameshift NM_001407895.1:c.991del NP_001394824.1:p.Glu331fs frameshift NM_001407896.1:c.991del NP_001394825.1:p.Glu331fs frameshift NM_001407897.1:c.991del NP_001394826.1:p.Glu331fs frameshift NM_001407898.1:c.991del NP_001394827.1:p.Glu331fs frameshift NM_001407899.1:c.991del NP_001394828.1:p.Glu331fs frameshift NM_001407900.1:c.994del NP_001394829.1:p.Glu332fs frameshift NM_001407902.1:c.994del NP_001394831.1:p.Glu332fs frameshift NM_001407904.1:c.994del NP_001394833.1:p.Glu332fs frameshift NM_001407906.1:c.994del NP_001394835.1:p.Glu332fs frameshift NM_001407907.1:c.994del NP_001394836.1:p.Glu332fs frameshift NM_001407908.1:c.994del NP_001394837.1:p.Glu332fs frameshift NM_001407909.1:c.994del NP_001394838.1:p.Glu332fs frameshift NM_001407910.1:c.994del NP_001394839.1:p.Glu332fs frameshift NM_001407915.1:c.991del NP_001394844.1:p.Glu331fs frameshift NM_001407916.1:c.991del NP_001394845.1:p.Glu331fs frameshift NM_001407917.1:c.991del NP_001394846.1:p.Glu331fs frameshift NM_001407918.1:c.991del NP_001394847.1:p.Glu331fs frameshift NM_001407919.1:c.1081del NP_001394848.1:p.Glu361fs frameshift NM_001407920.1:c.940del NP_001394849.1:p.Glu314fs frameshift NM_001407921.1:c.940del NP_001394850.1:p.Glu314fs frameshift NM_001407922.1:c.940del NP_001394851.1:p.Glu314fs frameshift NM_001407923.1:c.940del NP_001394852.1:p.Glu314fs frameshift NM_001407924.1:c.940del NP_001394853.1:p.Glu314fs frameshift NM_001407925.1:c.940del NP_001394854.1:p.Glu314fs frameshift NM_001407926.1:c.940del NP_001394855.1:p.Glu314fs frameshift NM_001407927.1:c.940del NP_001394856.1:p.Glu314fs frameshift NM_001407928.1:c.940del NP_001394857.1:p.Glu314fs frameshift NM_001407929.1:c.940del NP_001394858.1:p.Glu314fs frameshift NM_001407930.1:c.937del NP_001394859.1:p.Glu313fs frameshift NM_001407931.1:c.937del NP_001394860.1:p.Glu313fs frameshift NM_001407932.1:c.937del NP_001394861.1:p.Glu313fs frameshift NM_001407933.1:c.940del NP_001394862.1:p.Glu314fs frameshift NM_001407934.1:c.937del NP_001394863.1:p.Glu313fs frameshift NM_001407935.1:c.940del NP_001394864.1:p.Glu314fs frameshift NM_001407936.1:c.937del NP_001394865.1:p.Glu313fs frameshift NM_001407937.1:c.1081del NP_001394866.1:p.Glu361fs frameshift NM_001407938.1:c.1081del NP_001394867.1:p.Glu361fs frameshift NM_001407939.1:c.1081del NP_001394868.1:p.Glu361fs frameshift NM_001407940.1:c.1078del NP_001394869.1:p.Glu360fs frameshift NM_001407941.1:c.1078del NP_001394870.1:p.Glu360fs frameshift NM_001407942.1:c.1063del NP_001394871.1:p.Glu355fs frameshift NM_001407943.1:c.1060del NP_001394872.1:p.Glu354fs frameshift NM_001407944.1:c.1063del NP_001394873.1:p.Glu355fs frameshift NM_001407945.1:c.1063del NP_001394874.1:p.Glu355fs frameshift NM_001407946.1:c.871del NP_001394875.1:p.Glu291fs frameshift NM_001407947.1:c.871del NP_001394876.1:p.Glu291fs frameshift NM_001407948.1:c.871del NP_001394877.1:p.Glu291fs frameshift NM_001407949.1:c.871del NP_001394878.1:p.Glu291fs frameshift NM_001407950.1:c.871del NP_001394879.1:p.Glu291fs frameshift NM_001407951.1:c.871del NP_001394880.1:p.Glu291fs frameshift NM_001407952.1:c.871del NP_001394881.1:p.Glu291fs frameshift NM_001407953.1:c.871del NP_001394882.1:p.Glu291fs frameshift NM_001407954.1:c.868del NP_001394883.1:p.Glu290fs frameshift NM_001407955.1:c.868del NP_001394884.1:p.Glu290fs frameshift NM_001407956.1:c.868del NP_001394885.1:p.Glu290fs frameshift NM_001407957.1:c.871del NP_001394886.1:p.Glu291fs frameshift NM_001407958.1:c.868del NP_001394887.1:p.Glu290fs frameshift NM_001407959.1:c.823del NP_001394888.1:p.Glu275fs frameshift NM_001407960.1:c.823del NP_001394889.1:p.Glu275fs frameshift NM_001407962.1:c.820del NP_001394891.1:p.Glu274fs frameshift NM_001407963.1:c.823del NP_001394892.1:p.Glu275fs frameshift NM_001407964.1:c.1060del NP_001394893.1:p.Glu354fs frameshift NM_001407965.1:c.700del NP_001394894.1:p.Glu234fs frameshift NM_001407966.1:c.316del NP_001394895.1:p.Glu106fs frameshift NM_001407967.1:c.316del NP_001394896.1:p.Glu106fs frameshift NM_001407968.1:c.787+417del intron variant NM_001407969.1:c.787+417del intron variant NM_001407970.1:c.787+417del intron variant NM_001407971.1:c.787+417del intron variant NM_001407972.1:c.784+417del intron variant NM_001407973.1:c.787+417del intron variant NM_001407974.1:c.787+417del intron variant NM_001407975.1:c.787+417del intron variant NM_001407976.1:c.787+417del intron variant NM_001407977.1:c.787+417del intron variant NM_001407978.1:c.787+417del intron variant NM_001407979.1:c.787+417del intron variant NM_001407980.1:c.787+417del intron variant NM_001407981.1:c.787+417del intron variant NM_001407982.1:c.787+417del intron variant NM_001407983.1:c.787+417del intron variant NM_001407984.1:c.784+417del intron variant NM_001407985.1:c.784+417del intron variant NM_001407986.1:c.784+417del intron variant NM_001407990.1:c.787+417del intron variant NM_001407991.1:c.784+417del intron variant NM_001407992.1:c.784+417del intron variant NM_001407993.1:c.787+417del intron variant NM_001408392.1:c.784+417del intron variant NM_001408396.1:c.784+417del intron variant NM_001408397.1:c.784+417del intron variant NM_001408398.1:c.784+417del intron variant NM_001408399.1:c.784+417del intron variant NM_001408400.1:c.784+417del intron variant NM_001408401.1:c.784+417del intron variant NM_001408402.1:c.784+417del intron variant NM_001408403.1:c.787+417del intron variant NM_001408404.1:c.787+417del intron variant NM_001408406.1:c.790+414del intron variant NM_001408407.1:c.784+417del intron variant NM_001408408.1:c.778+417del intron variant NM_001408409.1:c.709+417del intron variant NM_001408410.1:c.646+417del intron variant NM_001408411.1:c.709+417del intron variant NM_001408412.1:c.709+417del intron variant NM_001408413.1:c.706+417del intron variant NM_001408414.1:c.709+417del intron variant NM_001408415.1:c.709+417del intron variant NM_001408416.1:c.706+417del intron variant NM_001408418.1:c.670+1519del intron variant NM_001408419.1:c.670+1519del intron variant NM_001408420.1:c.670+1519del intron variant NM_001408421.1:c.667+1519del intron variant NM_001408422.1:c.670+1519del intron variant NM_001408423.1:c.670+1519del intron variant NM_001408424.1:c.667+1519del intron variant NM_001408425.1:c.664+417del intron variant NM_001408426.1:c.664+417del intron variant NM_001408427.1:c.664+417del intron variant NM_001408428.1:c.664+417del intron variant NM_001408429.1:c.664+417del intron variant NM_001408430.1:c.664+417del intron variant NM_001408431.1:c.667+1519del intron variant NM_001408432.1:c.661+417del intron variant NM_001408433.1:c.661+417del intron variant NM_001408434.1:c.661+417del intron variant NM_001408435.1:c.661+417del intron variant NM_001408436.1:c.664+417del intron variant NM_001408437.1:c.664+417del intron variant NM_001408438.1:c.664+417del intron variant NM_001408439.1:c.664+417del intron variant NM_001408440.1:c.664+417del intron variant NM_001408441.1:c.664+417del intron variant NM_001408442.1:c.664+417del intron variant NM_001408443.1:c.664+417del intron variant NM_001408444.1:c.664+417del intron variant NM_001408445.1:c.661+417del intron variant NM_001408446.1:c.661+417del intron variant NM_001408447.1:c.661+417del intron variant NM_001408448.1:c.661+417del intron variant NM_001408450.1:c.661+417del intron variant NM_001408451.1:c.652+417del intron variant NM_001408452.1:c.646+417del intron variant NM_001408453.1:c.646+417del intron variant NM_001408454.1:c.646+417del intron variant NM_001408455.1:c.646+417del intron variant NM_001408456.1:c.646+417del intron variant NM_001408457.1:c.646+417del intron variant NM_001408458.1:c.646+417del intron variant NM_001408459.1:c.646+417del intron variant NM_001408460.1:c.646+417del intron variant NM_001408461.1:c.646+417del intron variant NM_001408462.1:c.643+417del intron variant NM_001408463.1:c.643+417del intron variant NM_001408464.1:c.643+417del intron variant NM_001408465.1:c.643+417del intron variant NM_001408466.1:c.646+417del intron variant NM_001408467.1:c.646+417del intron variant NM_001408468.1:c.643+417del intron variant NM_001408469.1:c.646+417del intron variant NM_001408470.1:c.643+417del intron variant NM_001408472.1:c.787+417del intron variant NM_001408473.1:c.784+417del intron variant NM_001408474.1:c.586+417del intron variant NM_001408475.1:c.583+417del intron variant NM_001408476.1:c.586+417del intron variant NM_001408478.1:c.577+417del intron variant NM_001408479.1:c.577+417del intron variant NM_001408480.1:c.577+417del intron variant NM_001408481.1:c.577+417del intron variant NM_001408482.1:c.577+417del intron variant NM_001408483.1:c.577+417del intron variant NM_001408484.1:c.577+417del intron variant NM_001408485.1:c.577+417del intron variant NM_001408489.1:c.577+417del intron variant NM_001408490.1:c.574+417del intron variant NM_001408491.1:c.574+417del intron variant NM_001408492.1:c.577+417del intron variant NM_001408493.1:c.574+417del intron variant NM_001408494.1:c.548-3295del intron variant NM_001408495.1:c.545-3295del intron variant NM_001408496.1:c.523+417del intron variant NM_001408497.1:c.523+417del intron variant NM_001408498.1:c.523+417del intron variant NM_001408499.1:c.523+417del intron variant NM_001408500.1:c.523+417del intron variant NM_001408501.1:c.523+417del intron variant NM_001408502.1:c.454+417del intron variant NM_001408503.1:c.520+417del intron variant NM_001408504.1:c.520+417del intron variant NM_001408505.1:c.520+417del intron variant NM_001408506.1:c.460+1519del intron variant NM_001408507.1:c.460+1519del intron variant NM_001408508.1:c.451+417del intron variant NM_001408509.1:c.451+417del intron variant NM_001408510.1:c.406+417del intron variant NM_001408511.1:c.404-3295del intron variant NM_001408512.1:c.283+417del intron variant NM_001408513.1:c.577+417del intron variant NM_001408514.1:c.577+417del intron variant NM_007294.3:c.1204delG frameshift NM_007297.4:c.1063del NP_009228.2:p.Glu355fs frameshift NM_007298.4:c.787+417del intron variant NM_007299.4:c.787+417del intron variant NM_007300.4:c.1204del NP_009231.2:p.Glu402fs frameshift NR_027676.1:n.1337delG NC_000017.11:g.43094330del NC_000017.10:g.41246347del NG_005905.2:g.123657del LRG_292:g.123657del LRG_292t1:c.1201del LRG_292p1:p.Glu402Serfs U14680.1:n.1323delG - Protein change
- E355fs, E402fs, E106fs, E290fs, E332fs, E354fs, E313fs, E335fs, E360fs, E375fs, E275fs, E291fs, E314fs, E234fs, E274fs, E331fs, E334fs, E361fs, E376fs, E399fs, E401fs
- Other names
- 1323delG
- Canonical SPDI
- NC_000017.11:43094326:CCCC:CCC
-
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 |
13021 | 14825 |
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 (2) |
criteria provided, single submitter
|
Apr 2, 2021 | RCV000047378.13 | |
Pathogenic (4) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000111566.13 | |
Pathogenic (1) |
criteria provided, single submitter
|
Nov 26, 2021 | RCV000573323.11 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Nov 13, 2023 | RCV000656644.21 | |
Pathogenic (1) |
criteria provided, single submitter
|
Dec 1, 2021 | RCV002483061.8 |
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: SCV000299557.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Nov 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000785771.2
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
|
|
Pathogenic
(Dec 11, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV002069050.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 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: SCV000324983.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(Dec 01, 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: SCV002793492.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Pathogenic
(Nov 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV004168143.1
First in ClinVar: Nov 25, 2023 Last updated: Nov 25, 2023 |
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; Observed … (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; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (PMID: 18489799, 7611277); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 1323delG; This variant is associated with the following publications: (PMID: 7611277, 18489799, 27533253, 29446198, 26207792, 35912641) (less)
|
|
Pathogenic
(Dec 05, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000858440.1
First in ClinVar: Jun 25, 2018 Last updated: Jun 25, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Pathogenic
(Apr 02, 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: SCV000918670.2
First in ClinVar: Jun 03, 2019 Last updated: May 01, 2021 |
Comment:
Variant summary: BRCA1 c.1204delG (p.Glu402SerfsX8) 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.1204delG (p.Glu402SerfsX8) 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 250852 control chromosomes. c.1204delG has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Rebbeck_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Nov 26, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000661096.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The c.1204delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1204, causing … (more)
The c.1204delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1204, causing a translational frameshift with a predicted alternate stop codon (p.E402Sfs*8). This alteration has been reported in multiple families with hereditary breast and ovarian cancer (Machackova E et al. BMC Cancer, 2008 May;8:140; Struewing JP et al. Am. J. Hum. Genet., 1995 Jul;57:1-7). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). 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
(Nov 06, 2014)
|
no assertion criteria provided
Method: clinical testing
|
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000075391.3
First in ClinVar: Jul 03, 2013 Last updated: Mar 29, 2015 |
|
|
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: SCV001553518.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Glu402Serfs*8 variant was identified in 7 of 2116 proband chromosomes (frequency: 0.0033) from individuals or families with hereditary breast and ovarian cancer (Enyedi … (more)
The BRCA1 p.Glu402Serfs*8 variant was identified in 7 of 2116 proband chromosomes (frequency: 0.0033) from individuals or families with hereditary breast and ovarian cancer (Enyedi 2016, Machackova 2008, Struewing 1995). The variant was also identified in dbSNP (ID: rs80357859) as “With Pathogenic allele”, ClinVar (as pathogenic by 9 submitters, reviewed by expert panel), LOVD 3.0 (3x as pathogenic). The variant was not identified in UMD-LSDB. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Glu402Serfs*8 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 402 and leads to a premature stop codon at position 409. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
|
|
Pathogenic
(Apr 02, 1997)
|
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: SCV000144030.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Dec 07, 2017)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778771.1
First in ClinVar: Jun 25, 2018 Last updated: Jun 25, 2018 |
|
|
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: SCV002034323.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035706.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
|
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 |
---|---|---|---|---|
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients. | Lincoln SE | The Journal of molecular diagnostics : JMD | 2015 | PMID: 26207792 |
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 |
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. | Struewing JP | American journal of human genetics | 1995 | PMID: 7611277 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
Text-mined citations for rs80357859 ...
HelpRecord last updated Sep 17, 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.