ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1757del (p.Pro586fs)
Variation ID: 54343 Accession: VCV000054343.17
- Type and length
-
Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093774 (GRCh38) [ NCBI UCSC ] 17: 41245791 (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.1757del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Pro586fs frameshift NM_001407571.1:c.1544del NP_001394500.1:p.Pro515fs frameshift NM_001407581.1:c.1757del NP_001394510.1:p.Pro586fs frameshift NM_001407582.1:c.1757del NP_001394511.1:p.Pro586fs frameshift NM_001407583.1:c.1757del NP_001394512.1:p.Pro586fs frameshift NM_001407585.1:c.1757del NP_001394514.1:p.Pro586fs frameshift NM_001407587.1:c.1754del NP_001394516.1:p.Pro585fs frameshift NM_001407590.1:c.1754del NP_001394519.1:p.Pro585fs frameshift NM_001407591.1:c.1754del NP_001394520.1:p.Pro585fs frameshift NM_001407593.1:c.1757del NP_001394522.1:p.Pro586fs frameshift NM_001407594.1:c.1757del NP_001394523.1:p.Pro586fs frameshift NM_001407596.1:c.1757del NP_001394525.1:p.Pro586fs frameshift NM_001407597.1:c.1757del NP_001394526.1:p.Pro586fs frameshift NM_001407598.1:c.1757del NP_001394527.1:p.Pro586fs frameshift NM_001407602.1:c.1757del NP_001394531.1:p.Pro586fs frameshift NM_001407603.1:c.1757del NP_001394532.1:p.Pro586fs frameshift NM_001407605.1:c.1757del NP_001394534.1:p.Pro586fs frameshift NM_001407610.1:c.1754del NP_001394539.1:p.Pro585fs frameshift NM_001407611.1:c.1754del NP_001394540.1:p.Pro585fs frameshift NM_001407612.1:c.1754del NP_001394541.1:p.Pro585fs frameshift NM_001407613.1:c.1754del NP_001394542.1:p.Pro585fs frameshift NM_001407614.1:c.1754del NP_001394543.1:p.Pro585fs frameshift NM_001407615.1:c.1754del NP_001394544.1:p.Pro585fs frameshift NM_001407616.1:c.1757del NP_001394545.1:p.Pro586fs frameshift NM_001407617.1:c.1757del NP_001394546.1:p.Pro586fs frameshift NM_001407618.1:c.1757del NP_001394547.1:p.Pro586fs frameshift NM_001407619.1:c.1757del NP_001394548.1:p.Pro586fs frameshift NM_001407620.1:c.1757del NP_001394549.1:p.Pro586fs frameshift NM_001407621.1:c.1757del NP_001394550.1:p.Pro586fs frameshift NM_001407622.1:c.1757del NP_001394551.1:p.Pro586fs frameshift NM_001407623.1:c.1757del NP_001394552.1:p.Pro586fs frameshift NM_001407624.1:c.1757del NP_001394553.1:p.Pro586fs frameshift NM_001407625.1:c.1757del NP_001394554.1:p.Pro586fs frameshift NM_001407626.1:c.1757del NP_001394555.1:p.Pro586fs frameshift NM_001407627.1:c.1754del NP_001394556.1:p.Pro585fs frameshift NM_001407628.1:c.1754del NP_001394557.1:p.Pro585fs frameshift NM_001407629.1:c.1754del NP_001394558.1:p.Pro585fs frameshift NM_001407630.1:c.1754del NP_001394559.1:p.Pro585fs frameshift NM_001407631.1:c.1754del NP_001394560.1:p.Pro585fs frameshift NM_001407632.1:c.1754del NP_001394561.1:p.Pro585fs frameshift NM_001407633.1:c.1754del NP_001394562.1:p.Pro585fs frameshift NM_001407634.1:c.1754del NP_001394563.1:p.Pro585fs frameshift NM_001407635.1:c.1754del NP_001394564.1:p.Pro585fs frameshift NM_001407636.1:c.1754del NP_001394565.1:p.Pro585fs frameshift NM_001407637.1:c.1754del NP_001394566.1:p.Pro585fs frameshift NM_001407638.1:c.1754del NP_001394567.1:p.Pro585fs frameshift NM_001407639.1:c.1757del NP_001394568.1:p.Pro586fs frameshift NM_001407640.1:c.1757del NP_001394569.1:p.Pro586fs frameshift NM_001407641.1:c.1757del NP_001394570.1:p.Pro586fs frameshift NM_001407642.1:c.1757del NP_001394571.1:p.Pro586fs frameshift NM_001407644.1:c.1754del NP_001394573.1:p.Pro585fs frameshift NM_001407645.1:c.1754del NP_001394574.1:p.Pro585fs frameshift NM_001407646.1:c.1748del NP_001394575.1:p.Pro583fs frameshift NM_001407647.1:c.1748del NP_001394576.1:p.Pro583fs frameshift NM_001407648.1:c.1634del NP_001394577.1:p.Pro545fs frameshift NM_001407649.1:c.1631del NP_001394578.1:p.Pro544fs frameshift NM_001407652.1:c.1757del NP_001394581.1:p.Pro586fs frameshift NM_001407653.1:c.1679del NP_001394582.1:p.Pro560fs frameshift NM_001407654.1:c.1679del NP_001394583.1:p.Pro560fs frameshift NM_001407655.1:c.1679del NP_001394584.1:p.Pro560fs frameshift NM_001407656.1:c.1679del NP_001394585.1:p.Pro560fs frameshift NM_001407657.1:c.1679del NP_001394586.1:p.Pro560fs frameshift NM_001407658.1:c.1679del NP_001394587.1:p.Pro560fs frameshift NM_001407659.1:c.1676del NP_001394588.1:p.Pro559fs frameshift NM_001407660.1:c.1676del NP_001394589.1:p.Pro559fs frameshift NM_001407661.1:c.1676del NP_001394590.1:p.Pro559fs frameshift NM_001407662.1:c.1676del NP_001394591.1:p.Pro559fs frameshift NM_001407663.1:c.1679del NP_001394592.1:p.Pro560fs frameshift NM_001407664.1:c.1634del NP_001394593.1:p.Pro545fs frameshift NM_001407665.1:c.1634del NP_001394594.1:p.Pro545fs frameshift NM_001407666.1:c.1634del NP_001394595.1:p.Pro545fs frameshift NM_001407667.1:c.1634del NP_001394596.1:p.Pro545fs frameshift NM_001407668.1:c.1634del NP_001394597.1:p.Pro545fs frameshift NM_001407669.1:c.1634del NP_001394598.1:p.Pro545fs frameshift NM_001407670.1:c.1631del NP_001394599.1:p.Pro544fs frameshift NM_001407671.1:c.1631del NP_001394600.1:p.Pro544fs frameshift NM_001407672.1:c.1631del NP_001394601.1:p.Pro544fs frameshift NM_001407673.1:c.1631del NP_001394602.1:p.Pro544fs frameshift NM_001407674.1:c.1634del NP_001394603.1:p.Pro545fs frameshift NM_001407675.1:c.1634del NP_001394604.1:p.Pro545fs frameshift NM_001407676.1:c.1634del NP_001394605.1:p.Pro545fs frameshift NM_001407677.1:c.1634del NP_001394606.1:p.Pro545fs frameshift NM_001407678.1:c.1634del NP_001394607.1:p.Pro545fs frameshift NM_001407679.1:c.1634del NP_001394608.1:p.Pro545fs frameshift NM_001407680.1:c.1634del NP_001394609.1:p.Pro545fs frameshift NM_001407681.1:c.1634del NP_001394610.1:p.Pro545fs frameshift NM_001407682.1:c.1634del NP_001394611.1:p.Pro545fs frameshift NM_001407683.1:c.1634del NP_001394612.1:p.Pro545fs frameshift NM_001407684.1:c.1757del NP_001394613.1:p.Pro586fs frameshift NM_001407685.1:c.1631del NP_001394614.1:p.Pro544fs frameshift NM_001407686.1:c.1631del NP_001394615.1:p.Pro544fs frameshift NM_001407687.1:c.1631del NP_001394616.1:p.Pro544fs frameshift NM_001407688.1:c.1631del NP_001394617.1:p.Pro544fs frameshift NM_001407689.1:c.1631del NP_001394618.1:p.Pro544fs frameshift NM_001407690.1:c.1631del NP_001394619.1:p.Pro544fs frameshift NM_001407691.1:c.1631del NP_001394620.1:p.Pro544fs frameshift NM_001407692.1:c.1616del NP_001394621.1:p.Pro539fs frameshift NM_001407694.1:c.1616del NP_001394623.1:p.Pro539fs frameshift NM_001407695.1:c.1616del NP_001394624.1:p.Pro539fs frameshift NM_001407696.1:c.1616del NP_001394625.1:p.Pro539fs frameshift NM_001407697.1:c.1616del NP_001394626.1:p.Pro539fs frameshift NM_001407698.1:c.1616del NP_001394627.1:p.Pro539fs frameshift NM_001407724.1:c.1616del NP_001394653.1:p.Pro539fs frameshift NM_001407725.1:c.1616del NP_001394654.1:p.Pro539fs frameshift NM_001407726.1:c.1616del NP_001394655.1:p.Pro539fs frameshift NM_001407727.1:c.1616del NP_001394656.1:p.Pro539fs frameshift NM_001407728.1:c.1616del NP_001394657.1:p.Pro539fs frameshift NM_001407729.1:c.1616del NP_001394658.1:p.Pro539fs frameshift NM_001407730.1:c.1616del NP_001394659.1:p.Pro539fs frameshift NM_001407731.1:c.1616del NP_001394660.1:p.Pro539fs frameshift NM_001407732.1:c.1616del NP_001394661.1:p.Pro539fs frameshift NM_001407733.1:c.1616del NP_001394662.1:p.Pro539fs frameshift NM_001407734.1:c.1616del NP_001394663.1:p.Pro539fs frameshift NM_001407735.1:c.1616del NP_001394664.1:p.Pro539fs frameshift NM_001407736.1:c.1616del NP_001394665.1:p.Pro539fs frameshift NM_001407737.1:c.1616del NP_001394666.1:p.Pro539fs frameshift NM_001407738.1:c.1616del NP_001394667.1:p.Pro539fs frameshift NM_001407739.1:c.1616del NP_001394668.1:p.Pro539fs frameshift NM_001407740.1:c.1613del NP_001394669.1:p.Pro538fs frameshift NM_001407741.1:c.1613del NP_001394670.1:p.Pro538fs frameshift NM_001407742.1:c.1613del NP_001394671.1:p.Pro538fs frameshift NM_001407743.1:c.1613del NP_001394672.1:p.Pro538fs frameshift NM_001407744.1:c.1613del NP_001394673.1:p.Pro538fs frameshift NM_001407745.1:c.1613del NP_001394674.1:p.Pro538fs frameshift NM_001407746.1:c.1613del NP_001394675.1:p.Pro538fs frameshift NM_001407747.1:c.1613del NP_001394676.1:p.Pro538fs frameshift NM_001407748.1:c.1613del NP_001394677.1:p.Pro538fs frameshift NM_001407749.1:c.1613del NP_001394678.1:p.Pro538fs frameshift NM_001407750.1:c.1616del NP_001394679.1:p.Pro539fs frameshift NM_001407751.1:c.1616del NP_001394680.1:p.Pro539fs frameshift NM_001407752.1:c.1616del NP_001394681.1:p.Pro539fs frameshift NM_001407838.1:c.1613del NP_001394767.1:p.Pro538fs frameshift NM_001407839.1:c.1613del NP_001394768.1:p.Pro538fs frameshift NM_001407841.1:c.1613del NP_001394770.1:p.Pro538fs frameshift NM_001407842.1:c.1613del NP_001394771.1:p.Pro538fs frameshift NM_001407843.1:c.1613del NP_001394772.1:p.Pro538fs frameshift NM_001407844.1:c.1613del NP_001394773.1:p.Pro538fs frameshift NM_001407845.1:c.1613del NP_001394774.1:p.Pro538fs frameshift NM_001407846.1:c.1613del NP_001394775.1:p.Pro538fs frameshift NM_001407847.1:c.1613del NP_001394776.1:p.Pro538fs frameshift NM_001407848.1:c.1613del NP_001394777.1:p.Pro538fs frameshift NM_001407849.1:c.1613del NP_001394778.1:p.Pro538fs frameshift NM_001407850.1:c.1616del NP_001394779.1:p.Pro539fs frameshift NM_001407851.1:c.1616del NP_001394780.1:p.Pro539fs frameshift NM_001407852.1:c.1616del NP_001394781.1:p.Pro539fs frameshift NM_001407853.1:c.1544del NP_001394782.1:p.Pro515fs frameshift NM_001407854.1:c.1757del NP_001394783.1:p.Pro586fs frameshift NM_001407858.1:c.1757del NP_001394787.1:p.Pro586fs frameshift NM_001407859.1:c.1757del NP_001394788.1:p.Pro586fs frameshift NM_001407860.1:c.1754del NP_001394789.1:p.Pro585fs frameshift NM_001407861.1:c.1754del NP_001394790.1:p.Pro585fs frameshift NM_001407862.1:c.1556del NP_001394791.1:p.Pro519fs frameshift NM_001407863.1:c.1634del NP_001394792.1:p.Pro545fs frameshift NM_001407874.1:c.1553del NP_001394803.1:p.Pro518fs frameshift NM_001407875.1:c.1553del NP_001394804.1:p.Pro518fs frameshift NM_001407879.1:c.1547del NP_001394808.1:p.Pro516fs frameshift NM_001407881.1:c.1547del NP_001394810.1:p.Pro516fs frameshift NM_001407882.1:c.1547del NP_001394811.1:p.Pro516fs frameshift NM_001407884.1:c.1547del NP_001394813.1:p.Pro516fs frameshift NM_001407885.1:c.1547del NP_001394814.1:p.Pro516fs frameshift NM_001407886.1:c.1547del NP_001394815.1:p.Pro516fs frameshift NM_001407887.1:c.1547del NP_001394816.1:p.Pro516fs frameshift NM_001407889.1:c.1547del NP_001394818.1:p.Pro516fs frameshift NM_001407894.1:c.1544del NP_001394823.1:p.Pro515fs frameshift NM_001407895.1:c.1544del NP_001394824.1:p.Pro515fs frameshift NM_001407896.1:c.1544del NP_001394825.1:p.Pro515fs frameshift NM_001407897.1:c.1544del NP_001394826.1:p.Pro515fs frameshift NM_001407898.1:c.1544del NP_001394827.1:p.Pro515fs frameshift NM_001407899.1:c.1544del NP_001394828.1:p.Pro515fs frameshift NM_001407900.1:c.1547del NP_001394829.1:p.Pro516fs frameshift NM_001407902.1:c.1547del NP_001394831.1:p.Pro516fs frameshift NM_001407904.1:c.1547del NP_001394833.1:p.Pro516fs frameshift NM_001407906.1:c.1547del NP_001394835.1:p.Pro516fs frameshift NM_001407907.1:c.1547del NP_001394836.1:p.Pro516fs frameshift NM_001407908.1:c.1547del NP_001394837.1:p.Pro516fs frameshift NM_001407909.1:c.1547del NP_001394838.1:p.Pro516fs frameshift NM_001407910.1:c.1547del NP_001394839.1:p.Pro516fs frameshift NM_001407915.1:c.1544del NP_001394844.1:p.Pro515fs frameshift NM_001407916.1:c.1544del NP_001394845.1:p.Pro515fs frameshift NM_001407917.1:c.1544del NP_001394846.1:p.Pro515fs frameshift NM_001407918.1:c.1544del NP_001394847.1:p.Pro515fs frameshift NM_001407919.1:c.1634del NP_001394848.1:p.Pro545fs frameshift NM_001407920.1:c.1493del NP_001394849.1:p.Pro498fs frameshift NM_001407921.1:c.1493del NP_001394850.1:p.Pro498fs frameshift NM_001407922.1:c.1493del NP_001394851.1:p.Pro498fs frameshift NM_001407923.1:c.1493del NP_001394852.1:p.Pro498fs frameshift NM_001407924.1:c.1493del NP_001394853.1:p.Pro498fs frameshift NM_001407925.1:c.1493del NP_001394854.1:p.Pro498fs frameshift NM_001407926.1:c.1493del NP_001394855.1:p.Pro498fs frameshift NM_001407927.1:c.1493del NP_001394856.1:p.Pro498fs frameshift NM_001407928.1:c.1493del NP_001394857.1:p.Pro498fs frameshift NM_001407929.1:c.1493del NP_001394858.1:p.Pro498fs frameshift NM_001407930.1:c.1490del NP_001394859.1:p.Pro497fs frameshift NM_001407931.1:c.1490del NP_001394860.1:p.Pro497fs frameshift NM_001407932.1:c.1490del NP_001394861.1:p.Pro497fs frameshift NM_001407933.1:c.1493del NP_001394862.1:p.Pro498fs frameshift NM_001407934.1:c.1490del NP_001394863.1:p.Pro497fs frameshift NM_001407935.1:c.1493del NP_001394864.1:p.Pro498fs frameshift NM_001407936.1:c.1490del NP_001394865.1:p.Pro497fs frameshift NM_001407937.1:c.1634del NP_001394866.1:p.Pro545fs frameshift NM_001407938.1:c.1634del NP_001394867.1:p.Pro545fs frameshift NM_001407939.1:c.1634del NP_001394868.1:p.Pro545fs frameshift NM_001407940.1:c.1631del NP_001394869.1:p.Pro544fs frameshift NM_001407941.1:c.1631del NP_001394870.1:p.Pro544fs frameshift NM_001407942.1:c.1616del NP_001394871.1:p.Pro539fs frameshift NM_001407943.1:c.1613del NP_001394872.1:p.Pro538fs frameshift NM_001407944.1:c.1616del NP_001394873.1:p.Pro539fs frameshift NM_001407945.1:c.1616del NP_001394874.1:p.Pro539fs frameshift NM_001407946.1:c.1424del NP_001394875.1:p.Pro475fs frameshift NM_001407947.1:c.1424del NP_001394876.1:p.Pro475fs frameshift NM_001407948.1:c.1424del NP_001394877.1:p.Pro475fs frameshift NM_001407949.1:c.1424del NP_001394878.1:p.Pro475fs frameshift NM_001407950.1:c.1424del NP_001394879.1:p.Pro475fs frameshift NM_001407951.1:c.1424del NP_001394880.1:p.Pro475fs frameshift NM_001407952.1:c.1424del NP_001394881.1:p.Pro475fs frameshift NM_001407953.1:c.1424del NP_001394882.1:p.Pro475fs frameshift NM_001407954.1:c.1421del NP_001394883.1:p.Pro474fs frameshift NM_001407955.1:c.1421del NP_001394884.1:p.Pro474fs frameshift NM_001407956.1:c.1421del NP_001394885.1:p.Pro474fs frameshift NM_001407957.1:c.1424del NP_001394886.1:p.Pro475fs frameshift NM_001407958.1:c.1421del NP_001394887.1:p.Pro474fs frameshift NM_001407959.1:c.1376del NP_001394888.1:p.Pro459fs frameshift NM_001407960.1:c.1376del NP_001394889.1:p.Pro459fs frameshift NM_001407962.1:c.1373del NP_001394891.1:p.Pro458fs frameshift NM_001407963.1:c.1376del NP_001394892.1:p.Pro459fs frameshift NM_001407964.1:c.1613del NP_001394893.1:p.Pro538fs frameshift NM_001407965.1:c.1253del NP_001394894.1:p.Pro418fs frameshift NM_001407966.1:c.869del NP_001394895.1:p.Pro290fs frameshift NM_001407967.1:c.869del NP_001394896.1:p.Pro290fs frameshift NM_001407968.1:c.787+970del intron variant NM_001407969.1:c.787+970del intron variant NM_001407970.1:c.787+970del intron variant NM_001407971.1:c.787+970del intron variant NM_001407972.1:c.784+970del intron variant NM_001407973.1:c.787+970del intron variant NM_001407974.1:c.787+970del intron variant NM_001407975.1:c.787+970del intron variant NM_001407976.1:c.787+970del intron variant NM_001407977.1:c.787+970del intron variant NM_001407978.1:c.787+970del intron variant NM_001407979.1:c.787+970del intron variant NM_001407980.1:c.787+970del intron variant NM_001407981.1:c.787+970del intron variant NM_001407982.1:c.787+970del intron variant NM_001407983.1:c.787+970del intron variant NM_001407984.1:c.784+970del intron variant NM_001407985.1:c.784+970del intron variant NM_001407986.1:c.784+970del intron variant NM_001407990.1:c.787+970del intron variant NM_001407991.1:c.784+970del intron variant NM_001407992.1:c.784+970del intron variant NM_001407993.1:c.787+970del intron variant NM_001408392.1:c.784+970del intron variant NM_001408396.1:c.784+970del intron variant NM_001408397.1:c.784+970del intron variant NM_001408398.1:c.784+970del intron variant NM_001408399.1:c.784+970del intron variant NM_001408400.1:c.784+970del intron variant NM_001408401.1:c.784+970del intron variant NM_001408402.1:c.784+970del intron variant NM_001408403.1:c.787+970del intron variant NM_001408404.1:c.787+970del intron variant NM_001408406.1:c.790+967del intron variant NM_001408407.1:c.784+970del intron variant NM_001408408.1:c.778+970del intron variant NM_001408409.1:c.709+970del intron variant NM_001408410.1:c.646+970del intron variant NM_001408411.1:c.709+970del intron variant NM_001408412.1:c.709+970del intron variant NM_001408413.1:c.706+970del intron variant NM_001408414.1:c.709+970del intron variant NM_001408415.1:c.709+970del intron variant NM_001408416.1:c.706+970del intron variant NM_001408418.1:c.670+2072del intron variant NM_001408419.1:c.670+2072del intron variant NM_001408420.1:c.670+2072del intron variant NM_001408421.1:c.667+2072del intron variant NM_001408422.1:c.670+2072del intron variant NM_001408423.1:c.670+2072del intron variant NM_001408424.1:c.667+2072del intron variant NM_001408425.1:c.664+970del intron variant NM_001408426.1:c.664+970del intron variant NM_001408427.1:c.664+970del intron variant NM_001408428.1:c.664+970del intron variant NM_001408429.1:c.664+970del intron variant NM_001408430.1:c.664+970del intron variant NM_001408431.1:c.667+2072del intron variant NM_001408432.1:c.661+970del intron variant NM_001408433.1:c.661+970del intron variant NM_001408434.1:c.661+970del intron variant NM_001408435.1:c.661+970del intron variant NM_001408436.1:c.664+970del intron variant NM_001408437.1:c.664+970del intron variant NM_001408438.1:c.664+970del intron variant NM_001408439.1:c.664+970del intron variant NM_001408440.1:c.664+970del intron variant NM_001408441.1:c.664+970del intron variant NM_001408442.1:c.664+970del intron variant NM_001408443.1:c.664+970del intron variant NM_001408444.1:c.664+970del intron variant NM_001408445.1:c.661+970del intron variant NM_001408446.1:c.661+970del intron variant NM_001408447.1:c.661+970del intron variant NM_001408448.1:c.661+970del intron variant NM_001408450.1:c.661+970del intron variant NM_001408451.1:c.652+970del intron variant NM_001408452.1:c.646+970del intron variant NM_001408453.1:c.646+970del intron variant NM_001408454.1:c.646+970del intron variant NM_001408455.1:c.646+970del intron variant NM_001408456.1:c.646+970del intron variant NM_001408457.1:c.646+970del intron variant NM_001408458.1:c.646+970del intron variant NM_001408459.1:c.646+970del intron variant NM_001408460.1:c.646+970del intron variant NM_001408461.1:c.646+970del intron variant NM_001408462.1:c.643+970del intron variant NM_001408463.1:c.643+970del intron variant NM_001408464.1:c.643+970del intron variant NM_001408465.1:c.643+970del intron variant NM_001408466.1:c.646+970del intron variant NM_001408467.1:c.646+970del intron variant NM_001408468.1:c.643+970del intron variant NM_001408469.1:c.646+970del intron variant NM_001408470.1:c.643+970del intron variant NM_001408472.1:c.787+970del intron variant NM_001408473.1:c.784+970del intron variant NM_001408474.1:c.586+970del intron variant NM_001408475.1:c.583+970del intron variant NM_001408476.1:c.586+970del intron variant NM_001408478.1:c.577+970del intron variant NM_001408479.1:c.577+970del intron variant NM_001408480.1:c.577+970del intron variant NM_001408481.1:c.577+970del intron variant NM_001408482.1:c.577+970del intron variant NM_001408483.1:c.577+970del intron variant NM_001408484.1:c.577+970del intron variant NM_001408485.1:c.577+970del intron variant NM_001408489.1:c.577+970del intron variant NM_001408490.1:c.574+970del intron variant NM_001408491.1:c.574+970del intron variant NM_001408492.1:c.577+970del intron variant NM_001408493.1:c.574+970del intron variant NM_001408494.1:c.548-2742del intron variant NM_001408495.1:c.545-2742del intron variant NM_001408496.1:c.523+970del intron variant NM_001408497.1:c.523+970del intron variant NM_001408498.1:c.523+970del intron variant NM_001408499.1:c.523+970del intron variant NM_001408500.1:c.523+970del intron variant NM_001408501.1:c.523+970del intron variant NM_001408502.1:c.454+970del intron variant NM_001408503.1:c.520+970del intron variant NM_001408504.1:c.520+970del intron variant NM_001408505.1:c.520+970del intron variant NM_001408506.1:c.460+2072del intron variant NM_001408507.1:c.460+2072del intron variant NM_001408508.1:c.451+970del intron variant NM_001408509.1:c.451+970del intron variant NM_001408510.1:c.406+970del intron variant NM_001408511.1:c.404-2742del intron variant NM_001408512.1:c.283+970del intron variant NM_001408513.1:c.577+970del intron variant NM_001408514.1:c.577+970del intron variant NM_007294.3:c.1757delC frameshift NM_007297.4:c.1616del NP_009228.2:p.Pro539fs frameshift NM_007298.4:c.787+970del intron variant NM_007299.4:c.787+970del intron variant NM_007300.4:c.1757del NP_009231.2:p.Pro586fs frameshift NR_027676.1:n.1892delC NC_000017.11:g.43093775del NC_000017.10:g.41245792del NG_005905.2:g.124210del LRG_292:g.124210del LRG_292t1:c.1756del LRG_292p1:p.Pro586Leufs U14680.1:n.1876delC - Protein change
- P539fs, P586fs, P459fs, P474fs, P515fs, P544fs, P418fs, P497fs, P516fs, P519fs, P545fs, P585fs, P458fs, P498fs, P559fs, P560fs, P290fs, P475fs, P518fs, P538fs, P583fs
- Other names
- 1876delC
- Canonical SPDI
- NC_000017.11:43093773:GG:G
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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 (3) |
reviewed by expert panel
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Sep 8, 2016 | RCV000111675.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 19, 2015 | RCV000132331.13 | |
Pathogenic (1) |
criteria provided, single submitter
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May 15, 2017 | RCV000657213.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 17, 2023 | RCV001388572.15 |
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: SCV000299644.2
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
(Nov 19, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000187419.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.1757delC pathogenic mutation (also known as 1876delC), located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at … (more)
The c.1757delC pathogenic mutation (also known as 1876delC), located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1757, causing a translational frameshift with a predicted alternate stop codon. This mutation has been described in a patient with breast cancer at 37 years of age, though it was not detected in the patient's mother, who had breast cancer at 48 years of age (Hopper JL et al. Cancer Epidemiol. Biomarkers Prev. 1999 Sep; 8(9):741-7). In addition to the clinical data found in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). (less)
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Pathogenic
(May 15, 2017)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000778939.2
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
Comment:
This deletion of one nucleotide in BRCA1 is denoted c.1757delC at the cDNA level and p.Pro586LeufsX2 (P586LfsX2) at the protein level. The normal sequence, with … (more)
This deletion of one nucleotide in BRCA1 is denoted c.1757delC at the cDNA level and p.Pro586LeufsX2 (P586LfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is GAAC[delC]TATA. The deletion causes a frameshift which changes a Proline to a Leucine at codon 586, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.1757delC, also published as 1876delC using alternate nomenclature, has been observed in at least one individual with Hereditary Breast and Ovarian Cancer (Hopper 1999, Southey 1999, Turkovic 2010). We consider this variant to be pathogenic. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325133.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Jul 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001589618.4
First in ClinVar: May 10, 2021 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro586Leufs*2) in the BRCA1 gene. It … (more)
For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Pro586Leufs*2) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 10498392, 28724667, 29446198, 30702160). ClinVar contains an entry for this variant (Variation ID: 54343). (less)
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Pathogenic
(Nov 30, 1998)
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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: SCV000144173.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
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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 |
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Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age. | Turkovic L | BMC cancer | 2010 | PMID: 20807450 |
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 |
Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. | Hopper JL | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 1999 | PMID: 10498392 |
Text-mined citations for rs80357723 ...
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.